Motif 20 (n=495)

Position-wise Probabilities

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uniprot genes site source protein function
A0A0C4DFX4 None S2663 ochoa Snf2 related CREBBP activator protein None
A0AVK6 E2F8 S71 ochoa Transcription factor E2F8 (E2F-8) Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. {ECO:0000269|PubMed:15897886, ECO:0000269|PubMed:16179649, ECO:0000269|PubMed:18202719, ECO:0000269|PubMed:22903062}.
A1L390 PLEKHG3 S423 ochoa Pleckstrin homology domain-containing family G member 3 (PH domain-containing family G member 3) Plays a role in controlling cell polarity and cell motility by selectively binding newly polymerized actin and activating RAC1 and CDC42 to enhance local actin polymerization. {ECO:0000269|PubMed:27555588}.
A5PL33 KRBA1 S101 ochoa Protein KRBA1 None
A6NDB9 PALM3 S72 ochoa Paralemmin-3 ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling. {ECO:0000269|PubMed:21187075}.
A6NHR9 SMCHD1 S67 ochoa Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-) Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:24790221, PubMed:25294876). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:23143600, ECO:0000269|PubMed:23542155, ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876, ECO:0000269|PubMed:29748383}.
A7KAX9 ARHGAP32 S1820 ochoa Rho GTPase-activating protein 32 (Brain-specific Rho GTPase-activating protein) (GAB-associated Cdc42/Rac GTPase-activating protein) (GC-GAP) (GTPase regulator interacting with TrkA) (Rho-type GTPase-activating protein 32) (Rho/Cdc42/Rac GTPase-activating protein RICS) (RhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling) (p200RhoGAP) (p250GAP) GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:12446789, ECO:0000269|PubMed:12454018, ECO:0000269|PubMed:12531901, ECO:0000269|PubMed:12788081, ECO:0000269|PubMed:12819203, ECO:0000269|PubMed:12857875, ECO:0000269|PubMed:17663722}.
A7MCY6 TBKBP1 S534 ochoa TANK-binding kinase 1-binding protein 1 (TBK1-binding protein 1) Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. {ECO:0000269|PubMed:21931631}.
A8MTJ6 FOXI3 S287 ochoa Forkhead box protein I3 Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development (PubMed:37041148). May act as a pioneer transcription factor during pharyngeal arch development (By similarity). Required for epithelial cell differentiation within the epidermis (By similarity). Acts at multiple stages of otic placode induction: necessary for preplacodal ectoderm to execute an inner ear program (By similarity). Required for hair follicle stem cell specification (By similarity). Acts downstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). {ECO:0000250|UniProtKB:D3Z120, ECO:0000269|PubMed:37041148}.
H7C0S8 None S247 ochoa Argininosuccinate lyase (Calcitonin gene-related peptide-receptor component protein) (DNA-directed RNA polymerase III subunit RPC9) Accessory protein for the calcitonin gene-related peptide (CGRP) receptor. It modulates CGRP responsiveness in a variety of tissues. {ECO:0000256|ARBA:ARBA00043924}.; FUNCTION: Catalyzes the reversible cleavage of L-argininosuccinate to fumarate and L-arginine, an intermediate step reaction in the urea cycle mostly providing for hepatic nitrogen detoxification into excretable urea as well as de novo L-arginine synthesis in nonhepatic tissues. Essential regulator of intracellular and extracellular L-arginine pools. As part of citrulline-nitric oxide cycle, forms tissue-specific multiprotein complexes with argininosuccinate synthase ASS1, transport protein SLC7A1 and nitric oxide synthase NOS1, NOS2 or NOS3, allowing for cell-autonomous L-arginine synthesis while channeling extracellular L-arginine to nitric oxide synthesis pathway. {ECO:0000256|ARBA:ARBA00045522}.; FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. With POLR3H/RPC8 forms a mobile stalk that protrudes from Pol III core and functions primarily in transcription initiation. Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway. {ECO:0000256|ARBA:ARBA00045808}.
O00213 APBB1 S347 ochoa|psp Amyloid beta precursor protein binding family B member 1 (Amyloid-beta A4 precursor protein-binding family B member 1) (Protein Fe65) Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1 (PubMed:19234442). Required for histone H4 acetylation at double-strand breaks (DSBs) (PubMed:19234442). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity (PubMed:33938178). Functions in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4 (PubMed:19343227). Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Plays a role in the maintenance of lens transparency (By similarity). May play a role in muscle cell strength (By similarity). Acts as a molecular adapter that functions in neurite outgrowth by activating the RAC1-ARF6 axis upon insulin treatment (PubMed:36250347). {ECO:0000250|UniProtKB:Q9QXJ1, ECO:0000269|PubMed:15031292, ECO:0000269|PubMed:18468999, ECO:0000269|PubMed:18922798, ECO:0000269|PubMed:19234442, ECO:0000269|PubMed:19343227, ECO:0000269|PubMed:25342469, ECO:0000269|PubMed:33938178, ECO:0000269|PubMed:36250347}.
O14513 NCKAP5 S128 ochoa Nck-associated protein 5 (NAP-5) (Peripheral clock protein) None
O14579 COPE S45 ochoa Coatomer subunit epsilon (Epsilon-coat protein) (Epsilon-COP) The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). {ECO:0000250}.
O14827 RASGRF2 S794 ochoa Ras-specific guanine nucleotide-releasing factor 2 (Ras-GRF2) (Ras guanine nucleotide exchange factor 2) Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation. {ECO:0000269|PubMed:15128856}.
O15020 SPTBN2 S772 ochoa Spectrin beta chain, non-erythrocytic 2 (Beta-III spectrin) (Spinocerebellar ataxia 5 protein) Probably plays an important role in neuronal membrane skeleton.
O15372 EIF3H S183 ochoa|psp Eukaryotic translation initiation factor 3 subunit H (eIF3h) (Eukaryotic translation initiation factor 3 subunit 3) (eIF-3-gamma) (eIF3 p40 subunit) Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03007, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.
O43164 PJA2 S309 ochoa E3 ubiquitin-protein ligase Praja-2 (Praja2) (EC 2.3.2.27) (RING finger protein 131) (RING-type E3 ubiquitin transferase Praja-2) Has E2-dependent E3 ubiquitin-protein ligase activity (PubMed:12036302, PubMed:21423175). Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes (PubMed:21423175). Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). Plays a role in ciliogenesis by ubiquitinating OFD1 (PubMed:33934390). {ECO:0000269|PubMed:12036302, ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:28471450, ECO:0000269|PubMed:33934390}.
O43491 EPB41L2 S499 ochoa Band 4.1-like protein 2 (Erythrocyte membrane protein band 4.1-like 2) (Generally expressed protein 4.1) (4.1G) Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). {ECO:0000269|PubMed:23870127}.
O60237 PPP1R12B S687 ochoa Protein phosphatase 1 regulatory subunit 12B (Myosin phosphatase-targeting subunit 2) (Myosin phosphatase target subunit 2) Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus. {ECO:0000269|PubMed:11067852, ECO:0000269|PubMed:9570949}.
O60488 ACSL4 S674 ochoa Long-chain-fatty-acid--CoA ligase 4 (EC 6.2.1.3) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 4) (LACS 4) Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590). {ECO:0000250|UniProtKB:O35547, ECO:0000269|PubMed:21242590, ECO:0000269|PubMed:22633490, ECO:0000269|PubMed:24269233}.
O60930 RNASEH1 S76 ochoa Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonuclease H type II) Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224). {ECO:0000269|PubMed:10497183, ECO:0000269|PubMed:21700224}.
O75376 NCOR1 S2102 ochoa Nuclear receptor corepressor 1 (N-CoR) (N-CoR1) Mediates transcriptional repression by certain nuclear receptors (PubMed:20812024). Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Mediates the NR1D1-dependent repression and circadian regulation of TSHB expression (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). {ECO:0000250|UniProtKB:Q60974, ECO:0000269|PubMed:14527417, ECO:0000269|PubMed:20812024}.
O75410 TACC1 S267 ochoa Transforming acidic coiled-coil-containing protein 1 (Gastric cancer antigen Ga55) (Taxin-1) Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues. {ECO:0000269|PubMed:20078863}.
O75575 CRCP S62 ochoa DNA-directed RNA polymerase III subunit RPC9 (RNA polymerase III subunit C9) (Calcitonin gene-related peptide-receptor component protein) (CGRP-RCP) (CGRP-receptor component protein) (CGRPRCP) (HsC17) DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. With POLR3H/RPC8 forms a mobile stalk that protrudes from Pol III core and functions primarily in transcription initiation (By similarity) (PubMed:20413673, PubMed:33558764, PubMed:33558766, PubMed:34675218). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370). {ECO:0000250|UniProtKB:Q9C0Z9, ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20413673, ECO:0000269|PubMed:33558764, ECO:0000269|PubMed:33558766, ECO:0000269|PubMed:34675218}.; FUNCTION: Accessory protein for the calcitonin gene-related peptide (CGRP) receptor. It modulates CGRP responsiveness in a variety of tissues. {ECO:0000250|UniProtKB:O35427}.
O75626 PRDM1 S288 ochoa PR domain zinc finger protein 1 (EC 2.1.1.-) (BLIMP-1) (Beta-interferon gene positive regulatory domain I-binding factor) (PR domain-containing protein 1) (Positive regulatory domain I-binding factor 1) (PRDI-BF1) (PRDI-binding factor 1) Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection (By similarity). Binds specifically to the PRDI element in the promoter of the beta-interferon gene (PubMed:1851123). Drives the maturation of B-lymphocytes into Ig secreting cells (PubMed:12626569). Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions (By similarity). Binds to the promoter and acts as a transcriptional repressor of IRF8, thereby promotes transcription of osteoclast differentiation factors such as NFATC1 and EEIG1 (By similarity). {ECO:0000250|UniProtKB:Q60636, ECO:0000269|PubMed:12626569, ECO:0000269|PubMed:1851123}.
O75643 SNRNP200 S835 ochoa U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.4.13) (Activating signal cointegrator 1 complex subunit 3-like 1) (BRR2 homolog) (U5 snRNP-specific 200 kDa protein) (U5-200KD) Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. {ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:23045696, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30315277, ECO:0000269|PubMed:30705154, ECO:0000269|PubMed:30728453, ECO:0000269|PubMed:35241646, ECO:0000269|PubMed:8670905, ECO:0000269|PubMed:9539711, ECO:0000305|PubMed:33509932}.
O75899 GABBR2 S884 ochoa Gamma-aminobutyric acid type B receptor subunit 2 (GABA-B receptor 2) (GABA-B-R2) (GABA-BR2) (GABABR2) (Gb2) (G-protein coupled receptor 51) (HG20) Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:10773016, PubMed:10906333, PubMed:9872744). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:22660477, PubMed:9872744). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:10075644, PubMed:22660477, PubMed:9872316, PubMed:9872744). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). {ECO:0000269|PubMed:10075644, ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512, ECO:0000269|PubMed:18165688, ECO:0000269|PubMed:22660477, ECO:0000269|PubMed:24305054, ECO:0000269|PubMed:9872316, ECO:0000269|PubMed:9872744, ECO:0000305}.
O75940 SMNDC1 S201 ochoa Survival of motor neuron-related-splicing factor 30 (30 kDa splicing factor SMNrp) (SMN-related protein) (Survival motor neuron domain-containing protein 1) Involved in spliceosome assembly. {ECO:0000269|PubMed:11331295, ECO:0000269|PubMed:11331595, ECO:0000269|PubMed:9817934}.
O94782 USP1 S475 ochoa Ubiquitin carboxyl-terminal hydrolase 1 (EC 3.4.19.12) (Deubiquitinating enzyme 1) (hUBP) (Ubiquitin thioesterase 1) (Ubiquitin-specific-processing protease 1) [Cleaved into: Ubiquitin carboxyl-terminal hydrolase 1, N-terminal fragment] Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995, PubMed:20147293). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029). {ECO:0000269|PubMed:15694335, ECO:0000269|PubMed:16531995, ECO:0000269|PubMed:18082604, ECO:0000269|PubMed:20147293, ECO:0000269|PubMed:26388029}.
O94811 TPPP S45 ochoa Tubulin polymerization-promoting protein (TPPP) (EC 3.6.5.-) (25 kDa brain-specific protein) (TPPP/p25) (p24) (p25-alpha) Regulator of microtubule dynamics that plays a key role in myelination by promoting elongation of the myelin sheath (PubMed:31522887). Acts as a microtubule nucleation factor in oligodendrocytes: specifically localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, and promotes microtubule nucleation, an important step for elongation of the myelin sheath (PubMed:31522887, PubMed:33831707). Required for both uniform polarized growth of distal microtubules as well as directing the branching of proximal processes (PubMed:31522887). Shows magnesium-dependent GTPase activity; the role of the GTPase activity is unclear (PubMed:21316364, PubMed:21995432). In addition to microtubule nucleation activity, also involved in microtubule bundling and stabilization of existing microtubules, thereby maintaining the integrity of the microtubule network (PubMed:17105200, PubMed:17693641, PubMed:18028908, PubMed:26289831). Regulates microtubule dynamics by promoting tubulin acetylation: acts by inhibiting the tubulin deacetylase activity of HDAC6 (PubMed:20308065, PubMed:23093407). Also regulates cell migration: phosphorylation by ROCK1 inhibits interaction with HDAC6, resulting in decreased acetylation of tubulin and increased cell motility (PubMed:23093407). Plays a role in cell proliferation by regulating the G1/S-phase transition (PubMed:23355470). Involved in astral microtubule organization and mitotic spindle orientation during early stage of mitosis; this process is regulated by phosphorylation by LIMK2 (PubMed:22328514). {ECO:0000269|PubMed:17105200, ECO:0000269|PubMed:17693641, ECO:0000269|PubMed:18028908, ECO:0000269|PubMed:20308065, ECO:0000269|PubMed:21316364, ECO:0000269|PubMed:21995432, ECO:0000269|PubMed:22328514, ECO:0000269|PubMed:23093407, ECO:0000269|PubMed:23355470, ECO:0000269|PubMed:26289831, ECO:0000269|PubMed:31522887}.
O94967 WDR47 S374 ochoa WD repeat-containing protein 47 (Neuronal enriched MAP-interacting protein) (Nemitin) None
O95168 NDUFB4 S26 ochoa NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 (Complex I-B15) (CI-B15) (NADH-ubiquinone oxidoreductase B15 subunit) Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.
O95251 KAT7 S506 ochoa Histone acetyltransferase KAT7 (EC 2.3.1.48) (Histone acetyltransferase binding to ORC1) (Lysine acetyltransferase 7) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2) (MYST-2) Catalytic subunit of histone acetyltransferase HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby regulating various processes, such as gene transcription, protein ubiquitination, immune regulation, stem cell pluripotent and self-renewal maintenance and embryonic development (PubMed:16387653, PubMed:21753189, PubMed:24065767, PubMed:26620551, PubMed:31767635, PubMed:31827282). Some complexes also catalyze acetylation of histone H4 at 'Lys-5', 'Lys-8' and 'Lys-12' (H4K5ac, H4K8ac and H4K12ac, respectively), regulating DNA replication initiation, regulating DNA replication initiation (PubMed:10438470, PubMed:19187766, PubMed:20129055, PubMed:24065767). Specificity of the HBO1 complexes is determined by the scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE (JADE1, JADE2 and JADE3) scaffold direct KAT7/HBO1 specificity towards histone H4 (PubMed:19187766, PubMed:20129055, PubMed:24065767, PubMed:26620551). H3K14ac promotes transcriptional elongation by facilitating the processivity of RNA polymerase II (PubMed:31827282). Acts as a key regulator of hematopoiesis by forming a complex with BRD1/BRPF2, directing KAT7/HBO1 specificity towards H3K14ac and promoting erythroid differentiation (PubMed:21753189). H3K14ac is also required for T-cell development (By similarity). KAT7/HBO1-mediated acetylation facilitates two consecutive steps, licensing and activation, in DNA replication initiation: H3K14ac facilitates the activation of replication origins, and histone H4 acetylation (H4K5ac, H4K8ac and H4K12ac) facilitates chromatin loading of MCM complexes, promoting DNA replication licensing (PubMed:10438470, PubMed:11278932, PubMed:18832067, PubMed:19187766, PubMed:20129055, PubMed:21856198, PubMed:24065767, PubMed:26620551). Acts as a positive regulator of centromeric CENPA assembly: recruited to centromeres and mediates histone acetylation, thereby preventing centromere inactivation mediated by SUV39H1, possibly by increasing histone turnover/exchange (PubMed:27270040). Involved in nucleotide excision repair: phosphorylation by ATR in response to ultraviolet irradiation promotes its localization to DNA damage sites, where it mediates histone acetylation to facilitate recruitment of XPC at the damaged DNA sites (PubMed:28719581). Acts as an inhibitor of NF-kappa-B independently of its histone acetyltransferase activity (PubMed:16997280). {ECO:0000250|UniProtKB:Q5SVQ0, ECO:0000269|PubMed:10438470, ECO:0000269|PubMed:11278932, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:16997280, ECO:0000269|PubMed:18832067, ECO:0000269|PubMed:19187766, ECO:0000269|PubMed:20129055, ECO:0000269|PubMed:21753189, ECO:0000269|PubMed:21856198, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:26620551, ECO:0000269|PubMed:27270040, ECO:0000269|PubMed:28719581, ECO:0000269|PubMed:31767635, ECO:0000269|PubMed:31827282}.; FUNCTION: Plays a central role in the maintenance of leukemia stem cells in acute myeloid leukemia (AML) (PubMed:31827282). Acts by mediating acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby facilitating the processivity of RNA polymerase II to maintain the high expression of key genes, such as HOXA9 and HOXA10 that help to sustain the functional properties of leukemia stem cells (PubMed:31827282). {ECO:0000269|PubMed:31827282}.
O95573 ACSL3 S683 ochoa Fatty acid CoA ligase Acsl3 (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 3) (LACS 3) (Long-chain-fatty-acid--CoA ligase 3) (EC 6.2.1.3) (Medium-chain acyl-CoA ligase Acsl3) (EC 6.2.1.2) Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490). Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins) (PubMed:18003621). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity (By similarity). {ECO:0000250|UniProtKB:Q63151, ECO:0000269|PubMed:18003621, ECO:0000269|PubMed:22633490}.
O95613 PCNT S1245 ochoa Pericentrin (Kendrin) (Pericentrin-B) Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome. {ECO:0000269|PubMed:10823944, ECO:0000269|PubMed:11171385, ECO:0000269|PubMed:18955030, ECO:0000269|PubMed:20599736, ECO:0000269|PubMed:30420784}.
O95671 ASMTL S421 ochoa Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein [Includes: dTTP/UTP pyrophosphatase (dTTPase/UTPase) (EC 3.6.1.9) (Nucleoside triphosphate pyrophosphatase) (Nucleotide pyrophosphatase) (Nucleotide PPase); N-acetylserotonin O-methyltransferase-like protein (ASMTL) (EC 2.1.1.-)] Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo-UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP (PubMed:24210219). May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids (PubMed:24210219). In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity (Probable). {ECO:0000269|PubMed:24210219, ECO:0000305}.
O95759 TBC1D8 S1054 ochoa TBC1 domain family member 8 (AD 3) (Vascular Rab-GAP/TBC-containing protein) May act as a GTPase-activating protein for Rab family protein(s).
O95789 ZMYM6 S759 ochoa Zinc finger MYM-type protein 6 (Transposon-derived Buster2 transposase-like protein) (Zinc finger protein 258) Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:21834987}.
P06132 UROD S61 ochoa Uroporphyrinogen decarboxylase (UPD) (URO-D) (EC 4.1.1.37) Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarboxylates pentacarboxylate porphyrinogen I (PubMed:12071824). {ECO:0000269|PubMed:11069625, ECO:0000269|PubMed:11719352, ECO:0000269|PubMed:12071824, ECO:0000269|PubMed:14633982, ECO:0000269|PubMed:18004775, ECO:0000269|PubMed:21668429}.
P06744 GPI S455 ochoa Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9) (Autocrine motility factor) (AMF) (Neuroleukin) (NLK) (Phosphoglucose isomerase) (PGI) (Phosphohexose isomerase) (PHI) (Sperm antigen 36) (SA-36) In the cytoplasm, catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (PubMed:28803808). Besides it's role as a glycolytic enzyme, also acts as a secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility (PubMed:11437381). Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons (PubMed:11004567, PubMed:3352745). It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (PubMed:11004567, PubMed:3352745). {ECO:0000269|PubMed:11004567, ECO:0000269|PubMed:11437381, ECO:0000269|PubMed:28803808, ECO:0000269|PubMed:3352745}.
P09017 HOXC4 S33 ochoa Homeobox protein Hox-C4 (Homeobox protein CP19) (Homeobox protein Hox-3E) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
P0C671 BNIP5 S463 ochoa Protein BNIP5 None
P11137 MAP2 S1155 ochoa Microtubule-associated protein 2 (MAP-2) The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.
P11940 PABPC1 S599 ochoa Polyadenylate-binding protein 1 (PABP-1) (Poly(A)-binding protein 1) Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability (PubMed:11051545, PubMed:17212783, PubMed:25480299). Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2 (PubMed:11051545, PubMed:20573744). Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs (PubMed:32245947). Involved in translationally coupled mRNA turnover (PubMed:11051545). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545). Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed (PubMed:18447585). By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299). {ECO:0000269|PubMed:11051545, ECO:0000269|PubMed:17212783, ECO:0000269|PubMed:18447585, ECO:0000269|PubMed:20573744, ECO:0000269|PubMed:25480299, ECO:0000269|PubMed:32245947}.; FUNCTION: (Microbial infection) Positively regulates the replication of dengue virus (DENV). {ECO:0000269|PubMed:26735137}.
P15374 UCHL3 S130 ochoa Ubiquitin carboxyl-terminal hydrolase isozyme L3 (UCH-L3) (EC 3.4.19.12) (Ubiquitin thioesterase L3) Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders. {ECO:0000269|PubMed:19154770, ECO:0000269|PubMed:21762696, ECO:0000269|PubMed:22689415, ECO:0000269|PubMed:2530630, ECO:0000269|PubMed:9790970}.
P15822 HIVEP1 S537 ochoa Zinc finger protein 40 (Cirhin interaction protein) (CIRIP) (Gate keeper of apoptosis-activating protein) (GAAP) (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex-binding protein 1) (MBP-1) (Positive regulatory domain II-binding factor 1) (PRDII-BF1) This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis.
P16152 CBR1 S151 ochoa Carbonyl reductase [NADPH] 1 (EC 1.1.1.184) (15-hydroxyprostaglandin dehydrogenase [NADP(+)]) (EC 1.1.1.196, EC 1.1.1.197) (20-beta-hydroxysteroid dehydrogenase) (Alcohol dehydrogenase [NAD(P)+] CBR1) (EC 1.1.1.71) (NADPH-dependent carbonyl reductase 1) (Prostaglandin 9-ketoreductase) (PG-9-KR) (Prostaglandin-E(2) 9-reductase) (EC 1.1.1.189) (Short chain dehydrogenase/reductase family 21C member 1) NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol (PubMed:15799708, PubMed:17344335, PubMed:17912391, PubMed:18449627, PubMed:18826943, PubMed:1921984, PubMed:7005231). Can convert prostaglandin E to prostaglandin F2-alpha (By similarity). Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione (PubMed:17344335, PubMed:18826943). In addition, participates in the glucocorticoid metabolism by catalyzing the NADPH-dependent cortisol/corticosterone into 20beta-dihydrocortisol (20b-DHF) or 20beta-corticosterone (20b-DHB), which are weak agonists of NR3C1 and NR3C2 in adipose tissue (PubMed:28878267). {ECO:0000250|UniProtKB:Q28960, ECO:0000269|PubMed:15799708, ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:17912391, ECO:0000269|PubMed:18449627, ECO:0000269|PubMed:18826943, ECO:0000269|PubMed:1921984, ECO:0000269|PubMed:28878267, ECO:0000269|PubMed:7005231}.
P18065 IGFBP2 S142 ochoa|psp Insulin-like growth factor-binding protein 2 (IBP-2) (IGF-binding protein 2) (IGFBP-2) Multifunctional protein that plays a critical role in regulating the availability of IGFs such as IGF1 and IGF2 to their receptors and thereby regulates IGF-mediated cellular processes including proliferation, differentiation, and apoptosis in a cell-type specific manner (PubMed:18563800, PubMed:38796567). Functions coordinately with receptor protein tyrosine phosphatase beta/PTPRB and the IGF1 receptor to regulate IGF1-mediated signaling by stimulating the phosphorylation of PTEN leading to its inactivation and AKT1 activation (PubMed:22869525). Plays a positive role in cell migration via interaction with integrin alpha5/ITGA5 through an RGD motif (PubMed:16569642). Additionally, interaction with ITGA5/ITGB1 enhances the adhesion of endothelial progenitor cells to endothelial cells (PubMed:26076738). Upon mitochondrial damage, facilitates apoptosis with ITGA5 of podocytes, and then activates the phosphorylation of focal adhesion kinase (FAK)-mediated mitochondrial injury (PubMed:38796567). {ECO:0000269|PubMed:16569642, ECO:0000269|PubMed:18563800, ECO:0000269|PubMed:19081843, ECO:0000269|PubMed:22869525, ECO:0000269|PubMed:26076738, ECO:0000269|PubMed:38796567}.
P18583 SON S283 ochoa Protein SON (Bax antagonist selected in saccharomyces 1) (BASS1) (Negative regulatory element-binding protein) (NRE-binding protein) (Protein DBP-5) (SON3) RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680). {ECO:0000269|PubMed:20581448, ECO:0000269|PubMed:21504830, ECO:0000269|PubMed:27545680}.
P19419 ELK1 S304 ochoa ETS domain-containing protein Elk-1 Transcription factor that binds to purine-rich DNA sequences (PubMed:10799319, PubMed:7889942). Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2 (PubMed:1630903). Induces target gene transcription upon JNK and MAPK-signaling pathways stimulation (PubMed:7889942). {ECO:0000269|PubMed:10799319, ECO:0000269|PubMed:1630903, ECO:0000269|PubMed:7889942}.
P23193 TCEA1 S100 ochoa Transcription elongation factor A protein 1 (Transcription elongation factor S-II protein 1) (Transcription elongation factor TFIIS.o) Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus.
P27987 ITPKB S544 ochoa Inositol-trisphosphate 3-kinase B (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase B) (IP3 3-kinase B) (IP3K B) (InsP 3-kinase B) Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis. {ECO:0000269|PubMed:11846419, ECO:0000269|PubMed:12747803, ECO:0000269|PubMed:1654894}.
P29375 KDM5A S204 ochoa Lysine-specific demethylase 5A (EC 1.14.11.67) (Histone demethylase JARID1A) (Jumonji/ARID domain-containing protein 1A) (Retinoblastoma-binding protein 2) (RBBP-2) ([histone H3]-trimethyl-L-lysine(4) demethylase 5A) Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228). {ECO:0000250|UniProtKB:Q3UXZ9, ECO:0000269|PubMed:11358960, ECO:0000269|PubMed:15949438, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17320163, ECO:0000269|PubMed:18270511, ECO:0000269|PubMed:19430464, ECO:0000269|PubMed:27427228}.
P30038 ALDH4A1 S44 ochoa Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (P5C dehydrogenase) (EC 1.2.1.88) (Aldehyde dehydrogenase family 4 member A1) (L-glutamate gamma-semialdehyde dehydrogenase) Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. {ECO:0000269|PubMed:22516612}.
P31260 HOXA10 S313 ochoa Homeobox protein Hox-A10 (Homeobox protein Hox-1.8) (Homeobox protein Hox-1H) (PL) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5'-AA[AT]TTTTATTAC-3'.
P31270 HOXA11 S221 ochoa Homeobox protein Hox-A11 (Homeobox protein Hox-1I) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
P31629 HIVEP2 S41 ochoa Transcription factor HIVEP2 (Human immunodeficiency virus type I enhancer-binding protein 2) (HIV-EP2) (MHC-binding protein 2) (MBP-2) This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.
P35228 NOS2 S67 ochoa Nitric oxide synthase, inducible (EC 1.14.13.39) (Hepatocyte NOS) (HEP-NOS) (Inducible NO synthase) (Inducible NOS) (iNOS) (NOS type II) (Peptidyl-cysteine S-nitrosylase NOS2) Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body (PubMed:7504305, PubMed:7531687, PubMed:7544004, PubMed:7682706). In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM (PubMed:25417112). Involved in inflammation, enhances the synthesis of pro-inflammatory mediators such as IL6 and IL8 (PubMed:19688109). {ECO:0000250|UniProtKB:P29477, ECO:0000269|PubMed:19688109, ECO:0000269|PubMed:25417112, ECO:0000269|PubMed:7504305, ECO:0000269|PubMed:7531687, ECO:0000269|PubMed:7544004, ECO:0000269|PubMed:7682706}.
P35236 PTPN7 S110 ochoa Tyrosine-protein phosphatase non-receptor type 7 (EC 3.1.3.48) (Hematopoietic protein-tyrosine phosphatase) (HEPTP) (Protein-tyrosine phosphatase LC-PTP) Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction. {ECO:0000269|PubMed:10206983, ECO:0000269|PubMed:10559944, ECO:0000269|PubMed:10702794, ECO:0000269|PubMed:1510684, ECO:0000269|PubMed:1530918, ECO:0000269|PubMed:9624114}.
P35916 FLT4 S953 ochoa Vascular endothelial growth factor receptor 3 (VEGFR-3) (EC 2.7.10.1) (Fms-like tyrosine kinase 4) (FLT-4) (Tyrosine-protein kinase receptor FLT4) Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by forming heterodimers. The secreted isoform 3 may function as a decoy receptor for VEGFC and/or VEGFD and play an important role as a negative regulator of VEGFC-mediated lymphangiogenesis and angiogenesis. Binding of vascular growth factors to isoform 1 or isoform 2 leads to the activation of several signaling cascades; isoform 2 seems to be less efficient in signal transduction, because it has a truncated C-terminus and therefore lacks several phosphorylation sites. Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signaling pathway, of MAPK8 and the JUN signaling pathway, and of the AKT1 signaling pathway. Phosphorylates SHC1. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at 'Thr-183' and 'Tyr-185', and of AKT1 at 'Ser-473'. {ECO:0000269|PubMed:11532940, ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:15474514, ECO:0000269|PubMed:16076871, ECO:0000269|PubMed:16452200, ECO:0000269|PubMed:17210781, ECO:0000269|PubMed:19610651, ECO:0000269|PubMed:19779139, ECO:0000269|PubMed:20224550, ECO:0000269|PubMed:20431062, ECO:0000269|PubMed:20445537, ECO:0000269|PubMed:21273538, ECO:0000269|PubMed:7675451, ECO:0000269|PubMed:8700872, ECO:0000269|PubMed:9435229}.
P36578 RPL4 S295 ochoa Large ribosomal subunit protein uL4 (60S ribosomal protein L1) (60S ribosomal protein L4) Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547}.
P38935 IGHMBP2 S716 ochoa DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2) 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction (PubMed:19158098, PubMed:22999958, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19158098, PubMed:19299493). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). {ECO:0000250|UniProtKB:Q9EQN5, ECO:0000269|PubMed:19158098, ECO:0000269|PubMed:19299493, ECO:0000269|PubMed:22999958, ECO:0000269|PubMed:30218034, ECO:0000269|PubMed:8349627}.
P41229 KDM5C S301 ochoa Lysine-specific demethylase 5C (EC 1.14.11.67) (Histone demethylase JARID1C) (Jumonji/ARID domain-containing protein 1C) (Protein SmcX) (Protein Xe169) ([histone H3]-trimethyl-L-lysine(4) demethylase 5C) Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250|UniProtKB:P41230, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:26645689, ECO:0000269|PubMed:28262558}.
P41970 ELK3 S115 ochoa ETS domain-containing protein Elk-3 (ETS-related protein ERP) (ETS-related protein NET) (Serum response factor accessory protein 2) (SAP-2) (SRF accessory protein 2) May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.
P42684 ABL2 S72 ochoa Tyrosine-protein kinase ABL2 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 2) (Abelson tyrosine-protein kinase 2) (Abelson-related gene protein) (Tyrosine-protein kinase ARG) Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 also acts as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). {ECO:0000250|UniProtKB:Q4JIM5, ECO:0000269|PubMed:15735735, ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:18945674}.
P46013 MKI67 S1048 ochoa Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67) Protein that associates with the surface of mitotic chromosomes and acts both as a chromosome repellent during early mitosis and chromosome attractant during late mitosis (PubMed:27362226, PubMed:32879492, PubMed:35513709, PubMed:39153474). Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). During early mitosis, relocalizes from nucleoli to the chromosome surface where it forms extended brush structures that cover a substantial fraction of the chromosome surface (PubMed:27362226). The MKI67 brush structure prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). During mitotic anaphase, the MKI67 brush structure collapses and MKI67 switches from a chromosome repellent to a chromosome attractant to promote chromosome clustering and facilitate the exclusion of large cytoplasmic particles from the future nuclear space (PubMed:32879492, PubMed:39153474). Mechanistically, dephosphorylation during mitotic exit and simultaneous exposure of a conserved basic patch induce the RNA-dependent formation of a liquid-like condensed phase on the chromosome surface, promoting coalescence of neighboring chromosome surfaces and clustering of chromosomes (PubMed:39153474). Binds premature ribosomal RNAs during anaphase; promoting liquid-liquid phase separation (PubMed:28935370, PubMed:39153474). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization; it is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in mitotic chromosome (PubMed:24867636). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226, ECO:0000269|PubMed:28935370, ECO:0000269|PubMed:32879492, ECO:0000269|PubMed:35513709, ECO:0000269|PubMed:39153474}.
P46013 MKI67 S1656 ochoa Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67) Protein that associates with the surface of mitotic chromosomes and acts both as a chromosome repellent during early mitosis and chromosome attractant during late mitosis (PubMed:27362226, PubMed:32879492, PubMed:35513709, PubMed:39153474). Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). During early mitosis, relocalizes from nucleoli to the chromosome surface where it forms extended brush structures that cover a substantial fraction of the chromosome surface (PubMed:27362226). The MKI67 brush structure prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). During mitotic anaphase, the MKI67 brush structure collapses and MKI67 switches from a chromosome repellent to a chromosome attractant to promote chromosome clustering and facilitate the exclusion of large cytoplasmic particles from the future nuclear space (PubMed:32879492, PubMed:39153474). Mechanistically, dephosphorylation during mitotic exit and simultaneous exposure of a conserved basic patch induce the RNA-dependent formation of a liquid-like condensed phase on the chromosome surface, promoting coalescence of neighboring chromosome surfaces and clustering of chromosomes (PubMed:39153474). Binds premature ribosomal RNAs during anaphase; promoting liquid-liquid phase separation (PubMed:28935370, PubMed:39153474). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization; it is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in mitotic chromosome (PubMed:24867636). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226, ECO:0000269|PubMed:28935370, ECO:0000269|PubMed:32879492, ECO:0000269|PubMed:35513709, ECO:0000269|PubMed:39153474}.
P46013 MKI67 S2505 ochoa Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67) Protein that associates with the surface of mitotic chromosomes and acts both as a chromosome repellent during early mitosis and chromosome attractant during late mitosis (PubMed:27362226, PubMed:32879492, PubMed:35513709, PubMed:39153474). Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). During early mitosis, relocalizes from nucleoli to the chromosome surface where it forms extended brush structures that cover a substantial fraction of the chromosome surface (PubMed:27362226). The MKI67 brush structure prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). During mitotic anaphase, the MKI67 brush structure collapses and MKI67 switches from a chromosome repellent to a chromosome attractant to promote chromosome clustering and facilitate the exclusion of large cytoplasmic particles from the future nuclear space (PubMed:32879492, PubMed:39153474). Mechanistically, dephosphorylation during mitotic exit and simultaneous exposure of a conserved basic patch induce the RNA-dependent formation of a liquid-like condensed phase on the chromosome surface, promoting coalescence of neighboring chromosome surfaces and clustering of chromosomes (PubMed:39153474). Binds premature ribosomal RNAs during anaphase; promoting liquid-liquid phase separation (PubMed:28935370, PubMed:39153474). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization; it is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in mitotic chromosome (PubMed:24867636). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226, ECO:0000269|PubMed:28935370, ECO:0000269|PubMed:32879492, ECO:0000269|PubMed:35513709, ECO:0000269|PubMed:39153474}.
P46013 MKI67 S2865 ochoa Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67) Protein that associates with the surface of mitotic chromosomes and acts both as a chromosome repellent during early mitosis and chromosome attractant during late mitosis (PubMed:27362226, PubMed:32879492, PubMed:35513709, PubMed:39153474). Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). During early mitosis, relocalizes from nucleoli to the chromosome surface where it forms extended brush structures that cover a substantial fraction of the chromosome surface (PubMed:27362226). The MKI67 brush structure prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). During mitotic anaphase, the MKI67 brush structure collapses and MKI67 switches from a chromosome repellent to a chromosome attractant to promote chromosome clustering and facilitate the exclusion of large cytoplasmic particles from the future nuclear space (PubMed:32879492, PubMed:39153474). Mechanistically, dephosphorylation during mitotic exit and simultaneous exposure of a conserved basic patch induce the RNA-dependent formation of a liquid-like condensed phase on the chromosome surface, promoting coalescence of neighboring chromosome surfaces and clustering of chromosomes (PubMed:39153474). Binds premature ribosomal RNAs during anaphase; promoting liquid-liquid phase separation (PubMed:28935370, PubMed:39153474). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization; it is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in mitotic chromosome (PubMed:24867636). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226, ECO:0000269|PubMed:28935370, ECO:0000269|PubMed:32879492, ECO:0000269|PubMed:35513709, ECO:0000269|PubMed:39153474}.
P46379 BAG6 S964 ochoa Large proline-rich protein BAG6 (BAG family molecular chaperone regulator 6) (BCL2-associated athanogene 6) (BAG-6) (HLA-B-associated transcript 3) (Protein G3) (Protein Scythe) ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:27193484, PubMed:28104892). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate in the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). {ECO:0000250|UniProtKB:Q9Z1R2, ECO:0000269|PubMed:20516149, ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:21743475, ECO:0000269|PubMed:23129660, ECO:0000269|PubMed:24981174, ECO:0000269|PubMed:25179605, ECO:0000269|PubMed:26565908, ECO:0000269|PubMed:26692333, ECO:0000269|PubMed:27193484, ECO:0000269|PubMed:28104892}.; FUNCTION: Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639). {ECO:0000269|PubMed:17403783, ECO:0000269|PubMed:18765639}.; FUNCTION: Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC). {ECO:0000269|PubMed:18055229, ECO:0000269|PubMed:18852879}.; FUNCTION: Mediates ricin-induced apoptosis. {ECO:0000269|PubMed:14960581}.
P46821 MAP1B S832 ochoa Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1] Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. {ECO:0000250, ECO:0000269|PubMed:18195017, ECO:0000269|PubMed:33268592}.
P46821 MAP1B S1298 ochoa Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1] Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. {ECO:0000250, ECO:0000269|PubMed:18195017, ECO:0000269|PubMed:33268592}.
P46821 MAP1B S1312 ochoa Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1] Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. {ECO:0000250, ECO:0000269|PubMed:18195017, ECO:0000269|PubMed:33268592}.
P46821 MAP1B S2024 ochoa Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1] Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. {ECO:0000250, ECO:0000269|PubMed:18195017, ECO:0000269|PubMed:33268592}.
P46939 UTRN S1405 ochoa Utrophin (Dystrophin-related protein 1) (DRP-1) May play a role in anchoring the cytoskeleton to the plasma membrane. {ECO:0000250}.
P47736 RAP1GAP S542 ochoa Rap1 GTPase-activating protein 1 (Rap1GAP) (Rap1GAP1) GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. {ECO:0000269|PubMed:15141215}.
P48651 PTDSS1 S425 ochoa Phosphatidylserine synthase 1 (PSS-1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine-exchange enzyme I) Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535). {ECO:0000269|PubMed:19014349, ECO:0000269|PubMed:24241535}.
P48681 NES S1016 ochoa Nestin Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen-stimulated proliferation of neural progenitor cells (By similarity). {ECO:0000250}.
P49406 MRPL19 S77 ochoa Large ribosomal subunit protein bL19m (39S ribosomal protein L15, mitochondrial) (L15mt) (MRP-L15) (39S ribosomal protein L19, mitochondrial) (L19mt) (MRP-L19) None
P49716 CEBPD S191 ochoa CCAAT/enhancer-binding protein delta (C/EBP delta) (Nuclear factor NF-IL6-beta) (NF-IL6-beta) Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers (PubMed:16397300). Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:16397300, PubMed:1741402). Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB (PubMed:1741402). {ECO:0000269|PubMed:1741402}.
P49792 RANBP2 S700 ochoa E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kDa nucleoporin) (Nuclear pore complex protein Nup358) (Nucleoporin Nup358) (Ran-binding protein 2) (RanBP2) (p270) E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Inhibits EIF4E-dependent mRNA export (PubMed:22902403). Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830). {ECO:0000269|PubMed:11792325, ECO:0000269|PubMed:12032081, ECO:0000269|PubMed:15378033, ECO:0000269|PubMed:15931224, ECO:0000269|PubMed:20386726, ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22194619, ECO:0000269|PubMed:22902403, ECO:0000269|PubMed:23353830, ECO:0000269|PubMed:7775481, ECO:0000303|PubMed:10078529}.
P51955 NEK2 S184 ochoa Serine/threonine-protein kinase Nek2 (EC 2.7.11.1) (HSPK 21) (Never in mitosis A-related kinase 2) (NimA-related protein kinase 2) (NimA-like protein kinase 1) Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856). Phosphorylates CCDC102B either directly or indirectly which causes CCDC102B to dissociate from the centrosome and allows for centrosome separation (PubMed:30404835). {ECO:0000269|PubMed:11742531, ECO:0000269|PubMed:12857871, ECO:0000269|PubMed:14978040, ECO:0000269|PubMed:15358203, ECO:0000269|PubMed:15388344, ECO:0000269|PubMed:17283141, ECO:0000269|PubMed:17621308, ECO:0000269|PubMed:17626005, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18297113, ECO:0000269|PubMed:20034488, ECO:0000269|PubMed:21076410, ECO:0000269|PubMed:24554434, ECO:0000269|PubMed:25704143, ECO:0000269|PubMed:26220856, ECO:0000269|PubMed:30404835}.; FUNCTION: [Isoform 1]: Phosphorylates and activates NEK11 in G1/S-arrested cells. {ECO:0000269|PubMed:15161910}.; FUNCTION: [Isoform 2]: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells. {ECO:0000269|PubMed:15161910}.
P53621 COPA S1193 ochoa Coatomer subunit alpha (Alpha-coat protein) (Alpha-COP) (HEP-COP) (HEPCOP) [Cleaved into: Xenin (Xenopsin-related peptide); Proxenin] The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). {ECO:0000250}.; FUNCTION: Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor.
P55060 CSE1L S103 ochoa Exportin-2 (Exp2) (Cellular apoptosis susceptibility protein) (Chromosome segregation 1-like protein) (Importin-alpha re-exporter) Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO:0000269|PubMed:9323134}.
P55211 CASP9 S302 ochoa Caspase-9 (CASP-9) (EC 3.4.22.62) (Apoptotic protease Mch-6) (Apoptotic protease-activating factor 3) (APAF-3) (ICE-like apoptotic protease 6) (ICE-LAP6) [Cleaved into: Caspase-9 subunit p35; Caspase-9 subunit p10] Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates effector caspases caspase-3 (CASP3) or caspase-7 (CASP7). Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Cleaves BIRC6 following inhibition of BIRC6-caspase binding by DIABLO/SMAC (PubMed:36758105, PubMed:36758106). {ECO:0000269|PubMed:15657060, ECO:0000269|PubMed:16352606, ECO:0000269|PubMed:16916640, ECO:0000269|PubMed:23516580, ECO:0000269|PubMed:27889207, ECO:0000269|PubMed:35338844, ECO:0000269|PubMed:35446120}.; FUNCTION: [Isoform 2]: Lacks activity is an dominant-negative inhibitor of caspase-9. {ECO:0000269|PubMed:10070954}.
P78559 MAP1A S527 ochoa Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2] Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
P78559 MAP1A S1190 ochoa Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2] Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
P78559 MAP1A S1326 ochoa Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2] Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
P78559 MAP1A S1675 ochoa Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2] Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
Q01082 SPTBN1 S2042 ochoa Spectrin beta chain, non-erythrocytic 1 (Beta-II spectrin) (Fodrin beta chain) (Spectrin, non-erythroid beta chain 1) Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function. {ECO:0000269|PubMed:34211179}.
Q01484 ANK2 S3277 ochoa Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non-erythroid ankyrin) Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). {ECO:0000250|UniProtKB:Q8C8R3, ECO:0000269|PubMed:12571597}.
Q01658 DR1 S67 ochoa Protein Dr1 (Down-regulator of transcription 1) (Negative cofactor 2-beta) (NC2-beta) (TATA-binding protein-associated phosphoprotein) The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. {ECO:0000269|PubMed:19103755, ECO:0000269|PubMed:8670811}.
Q01954 BNC1 S338 ochoa Zinc finger protein basonuclin-1 Transcriptional activator (By similarity). It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). It is involved in the positive regulation of oocyte maturation, probably acting through the control of BMP15 levels and regulation of AKT signaling cascade (PubMed:30010909). May also play a role in the early development of embryos (By similarity). {ECO:0000250|UniProtKB:O35914, ECO:0000269|PubMed:30010909, ECO:0000269|PubMed:8034748}.
Q02750 MAP2K1 S231 psp Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1) Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis. {ECO:0000269|PubMed:14737111, ECO:0000269|PubMed:17101779, ECO:0000269|PubMed:29433126}.
Q04656 ATP7A S427 ochoa Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein) ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:10419525, PubMed:19453293, PubMed:19917612, PubMed:28389643, PubMed:31283225). Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway (PubMed:11092760, PubMed:28389643). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (PubMed:10419525, PubMed:28389643). May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity) (PubMed:28389643). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity). {ECO:0000250|UniProtKB:Q64430, ECO:0000269|PubMed:10419525, ECO:0000269|PubMed:11092760, ECO:0000269|PubMed:19453293, ECO:0000269|PubMed:19917612, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:31283225}.
Q07820 MCL1 S121 psp Induced myeloid leukemia cell differentiation protein Mcl-1 (Bcl-2-like protein 3) (Bcl2-L-3) (Bcl-2-related protein EAT/mcl1) (mcl1/EAT) Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis. {ECO:0000269|PubMed:10766760, ECO:0000269|PubMed:16543145}.
Q09666 AHNAK S177 ochoa Neuroblast differentiation-associated protein AHNAK (Desmoyokin) May be required for neuronal cell differentiation.
Q12830 BPTF S1300 ochoa Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen) Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:14609955, PubMed:28801535). The NURF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NURF-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NURF-1 ISWI chromatin-remodeling complex, binds to the promoters of En1 and En2 to positively regulate their expression and promote brain development (PubMed:14609955). Histone-binding protein which binds to H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of active genes (PubMed:16728976, PubMed:16728978). Binds to histone H3 tails dimethylated on 'Lys-4' (H3K4Me2) to a lesser extent (PubMed:16728976, PubMed:16728978, PubMed:18042461). May also regulate transcription through direct binding to DNA or transcription factors (PubMed:10575013). {ECO:0000269|PubMed:10575013, ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:16728976, ECO:0000269|PubMed:16728978, ECO:0000269|PubMed:18042461, ECO:0000269|PubMed:28801535}.
Q12851 MAP4K2 S298 ochoa Mitogen-activated protein kinase kinase kinase kinase 2 (EC 2.7.11.1) (B lymphocyte serine/threonine-protein kinase) (Germinal center kinase) (GC kinase) (MAPK/ERK kinase kinase kinase 2) (MEK kinase kinase 2) (MEKKK 2) (Rab8-interacting protein) Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), lipid A, peptidoglycan (PGN), or bacterial flagellin. To a lesser degree, IL-1 and engagement of CD40 also stimulate MAP4K2-mediated JNKs activation. The requirement for MAP4K2/GCK is most pronounced for LPS signaling, and extends to LPS stimulation of c-Jun phosphorylation and induction of IL-8. Enhances MAP3K1 oligomerization, which may relieve N-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. Also mediates the SAP/JNK signaling pathway and the p38 MAPKs signaling pathway through activation of the MAP3Ks MAP3K10/MLK2 and MAP3K11/MLK3. May play a role in the regulation of vesicle targeting or fusion. regulation of vesicle targeting or fusion. Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443). {ECO:0000269|PubMed:11784851, ECO:0000269|PubMed:15456887, ECO:0000269|PubMed:17584736, ECO:0000269|PubMed:26437443, ECO:0000269|PubMed:7477268, ECO:0000269|PubMed:7515885, ECO:0000269|PubMed:9712898}.
Q12888 TP53BP1 S500 ochoa TP53-binding protein 1 (53BP1) (p53-binding protein 1) (p53BP1) Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:17190600, PubMed:21144835, PubMed:22553214, PubMed:23333306, PubMed:27153538, PubMed:28241136, PubMed:31135337, PubMed:37696958). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23333306, PubMed:23727112, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:17190600, PubMed:23760478, PubMed:27153538, PubMed:28241136). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112). {ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:12364621, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:22553214, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23345425, ECO:0000269|PubMed:23727112, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:27153538, ECO:0000269|PubMed:28241136, ECO:0000269|PubMed:31135337, ECO:0000269|PubMed:37696958}.
Q12931 TRAP1 S77 ochoa Heat shock protein 75 kDa, mitochondrial (HSP 75) (Heat shock protein family C member 5) (TNFR-associated protein 1) (Tumor necrosis factor type 1 receptor-associated protein) (TRAP-1) Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA. {ECO:0000269|PubMed:23525905, ECO:0000269|PubMed:23564345, ECO:0000269|PubMed:23747254}.
Q13017 ARHGAP5 S1105 ochoa Rho GTPase-activating protein 5 (Rho-type GTPase-activating protein 5) (p190-B) GTPase-activating protein for Rho family members (PubMed:8537347). {ECO:0000269|PubMed:8537347}.
Q13310 PABPC4 S608 ochoa Polyadenylate-binding protein 4 (PABP-4) (Poly(A)-binding protein 4) (Activated-platelet protein 1) (APP-1) (Inducible poly(A)-binding protein) (iPABP) Binds the poly(A) tail of mRNA (PubMed:8524242). Binds to SMIM26 mRNA and plays a role in its post-transcriptional regulation (PubMed:37009826). May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity). {ECO:0000250|UniProtKB:P11940, ECO:0000269|PubMed:37009826, ECO:0000269|PubMed:8524242}.
Q13459 MYO9B S1115 ochoa Unconventional myosin-IXb (Unconventional myosin-9b) Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:26529257, PubMed:9490638). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). {ECO:0000269|PubMed:26529257, ECO:0000269|PubMed:9490638}.
Q13625 TP53BP2 S673 ochoa Apoptosis-stimulating of p53 protein 2 (Bcl2-binding protein) (Bbp) (Renal carcinoma antigen NY-REN-51) (Tumor suppressor p53-binding protein 2) (53BP2) (p53-binding protein 2) (p53BP2) Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of NAE1 to conjugate NEDD8 to CUL1, and thereby decreases NAE1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42. {ECO:0000269|PubMed:11684014, ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:12694406, ECO:0000269|PubMed:19377511}.
Q13895 BYSL S414 ochoa Bystin Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos. {ECO:0000269|PubMed:17360433, ECO:0000269|PubMed:17381424}.
Q14624 ITIH4 S225 ochoa Inter-alpha-trypsin inhibitor heavy chain H4 (ITI heavy chain H4) (ITI-HC4) (Inter-alpha-inhibitor heavy chain 4) (Inter-alpha-trypsin inhibitor family heavy chain-related protein) (IHRP) (Plasma kallikrein sensitive glycoprotein 120) (Gp120) (PK-120) [Cleaved into: 70 kDa inter-alpha-trypsin inhibitor heavy chain H4; 35 kDa inter-alpha-trypsin inhibitor heavy chain H4] Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration. {ECO:0000269|PubMed:19263524}.
Q14667 BLTP2 S2094 ochoa Bridge-like lipid transfer protein family member 2 (Antigen MLAA-22) (Breast cancer-overexpressed gene 1 protein) (Protein hobbit homolog) Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution. {ECO:0000250|UniProtKB:Q9VZS7}.
Q14676 MDC1 S882 ochoa Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1) Histone reader protein required for checkpoint-mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle (PubMed:12475977, PubMed:12499369, PubMed:12551934, PubMed:12607003, PubMed:12607004, PubMed:12607005, PubMed:12611903, PubMed:14695167, PubMed:15201865, PubMed:15377652, PubMed:16049003, PubMed:16377563, PubMed:30898438). Specifically recognizes and binds histone H2AX phosphorylated at 'Ser-139', a marker of DNA damage, serving as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage sites (PubMed:12607005, PubMed:15201865, PubMed:16049003, PubMed:16377563, PubMed:30898438). Also required for downstream events subsequent to the recruitment of these proteins (PubMed:12607005, PubMed:15201865, PubMed:16049003, PubMed:16377563, PubMed:18582474). These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53/p53 and apoptosis (PubMed:12499369, PubMed:12551934, PubMed:12607004). ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1 (PubMed:12499369, PubMed:12551934, PubMed:12607004). Required for chromosomal stability during mitosis by promoting recruitment of TOPBP1 to DNA double strand breaks (DSBs): TOPBP1 forms filamentous assemblies that bridge MDC1 and tether broken chromosomes during mitosis (PubMed:30898438). Required for the repair of DSBs via homologous recombination by promoting recruitment of NBN component of the MRN complex to DSBs (PubMed:18411307, PubMed:18582474, PubMed:18583988, PubMed:18678890). {ECO:0000269|PubMed:12475977, ECO:0000269|PubMed:12499369, ECO:0000269|PubMed:12551934, ECO:0000269|PubMed:12607003, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12607005, ECO:0000269|PubMed:12611903, ECO:0000269|PubMed:14695167, ECO:0000269|PubMed:15201865, ECO:0000269|PubMed:15377652, ECO:0000269|PubMed:16049003, ECO:0000269|PubMed:16377563, ECO:0000269|PubMed:18411307, ECO:0000269|PubMed:18582474, ECO:0000269|PubMed:18583988, ECO:0000269|PubMed:18678890, ECO:0000269|PubMed:30898438}.
Q14680 MELK S498 ochoa Maternal embryonic leucine zipper kinase (hMELK) (EC 2.7.11.1) (Protein kinase Eg3) (pEg3 kinase) (Protein kinase PK38) (hPK38) (Tyrosine-protein kinase MELK) (EC 2.7.10.2) Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis. {ECO:0000269|PubMed:11802789, ECO:0000269|PubMed:12400006, ECO:0000269|PubMed:14699119, ECO:0000269|PubMed:15908796, ECO:0000269|PubMed:16216881, ECO:0000269|PubMed:17280616}.
Q14807 KIF22 S581 ochoa Kinesin-like protein KIF22 (Kinesin-like DNA-binding protein) (Kinesin-like protein 4) Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205). {ECO:0000250|UniProtKB:Q9I869, ECO:0000269|PubMed:25743205}.
Q14814 MEF2D S98 ochoa|psp Myocyte-specific enhancer factor 2D Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity). {ECO:0000250, ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:15834131}.
Q15051 IQCB1 S20 ochoa IQ calmodulin-binding motif-containing protein 1 (Nephrocystin-5) (p53 and DNA damage-regulated IQ motif protein) (PIQ) Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). {ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}.
Q15067 ACOX1 S26 ochoa|psp Peroxisomal acyl-coenzyme A oxidase 1 (AOX) (EC 1.3.3.6) (Palmitoyl-CoA oxidase) (Peroxisomal fatty acyl-CoA oxidase) (Straight-chain acyl-CoA oxidase) (SCOX) [Cleaved into: Peroxisomal acyl-CoA oxidase 1, A chain; Peroxisomal acyl-CoA oxidase 1, B chain; Peroxisomal acyl-CoA oxidase 1, C chain] Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long-chain fatty acids (PubMed:15060085, PubMed:17458872, PubMed:17603022, PubMed:32169171, PubMed:33234382, PubMed:7876265). Catalyzes the desaturation of fatty acyl-CoAs such as palmitoyl-CoA (hexadecanoyl-CoA) to 2-trans-enoyl-CoAs ((2E)-enoyl-CoAs) such as (2E)-hexadecenoyl-CoA, and donates electrons directly to molecular oxygen (O(2)), thereby producing hydrogen peroxide (H(2)O(2)) (PubMed:17458872, PubMed:17603022, PubMed:7876265). {ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:17603022, ECO:0000269|PubMed:32169171, ECO:0000269|PubMed:33234382, ECO:0000269|PubMed:7876265}.; FUNCTION: [Isoform 1]: Shows highest activity against medium-chain fatty acyl-CoAs. Shows optimum activity with a chain length of 10 carbons (decanoyl-CoA) in vitro. {ECO:0000269|PubMed:17603022}.; FUNCTION: [Isoform 2]: Is active against a much broader range of substrates and shows activity towards long-chain fatty acyl-CoAs. {ECO:0000269|PubMed:17603022}.
Q15366 PCBP2 S272 ochoa|psp Poly(rC)-binding protein 2 (Alpha-CP2) (Heterogeneous nuclear ribonucleoprotein E2) (hnRNP E2) Single-stranded nucleic acid binding protein that binds preferentially to oligo dC (PubMed:12414943, PubMed:7607214). Major cellular poly(rC)-binding protein (PubMed:12414943). Also binds poly(rU) (PubMed:12414943). Acts as a negative regulator of antiviral signaling (PubMed:19881509, PubMed:35322803). Negatively regulates cellular antiviral responses mediated by MAVS signaling (PubMed:19881509). It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation (PubMed:19881509). Negativeley regulates the cGAS-STING pathway via interaction with CGAS, preventing the formation of liquid-like droplets in which CGAS is activated (PubMed:35322803). Together with PCBP1, required for erythropoiesis, possibly by regulating mRNA splicing (By similarity). {ECO:0000250|UniProtKB:Q61990, ECO:0000269|PubMed:12414943, ECO:0000269|PubMed:19881509, ECO:0000269|PubMed:35322803, ECO:0000269|PubMed:7607214}.; FUNCTION: (Microbial infection) In case of infection by poliovirus, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12414943, PubMed:24371074). Also plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943). {ECO:0000269|PubMed:12414943, ECO:0000269|PubMed:24371074}.
Q2M1P5 KIF7 S1289 ochoa Kinesin-like protein KIF7 Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity). {ECO:0000250|UniProtKB:B7ZNG0, ECO:0000269|PubMed:21633164}.
Q2TAZ0 ATG2A S762 ochoa Autophagy-related protein 2 homolog A Lipid transfer protein involved in autophagosome assembly (PubMed:28561066, PubMed:30952800, PubMed:31271352). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (PubMed:30952800, PubMed:31271352). Binds to the ER exit site (ERES), which is the membrane source for autophagosome formation, and extracts phospholipids from the membrane source and transfers them to ATG9 (ATG9A or ATG9B) to the IM for membrane expansion (PubMed:30952800, PubMed:31271352). Lipid transfer activity is enhanced by WIPI1 and WDR45/WIPI4, which promote ATG2A-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066). {ECO:0000269|PubMed:22219374, ECO:0000269|PubMed:28561066, ECO:0000269|PubMed:30952800, ECO:0000269|PubMed:31271352}.
Q2TBE0 CWF19L2 S479 ochoa CWF19-like protein 2 None
Q3T8J9 GON4L S1339 ochoa GON-4-like protein (GON-4 homolog) Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A and HDAC1. Required for B cell lymphopoiesis. {ECO:0000250|UniProtKB:Q9DB00}.
Q4AC94 C2CD3 S339 ochoa C2 domain-containing protein 3 Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. {ECO:0000269|PubMed:23769972, ECO:0000269|PubMed:24997988}.
Q4G0N4 NADK2 S367 ochoa|psp NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitochondrial NAD kinase) (NAD kinase domain-containing protein 1, mitochondrial) Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo. {ECO:0000269|PubMed:23212377}.
Q4KMZ1 IQCC S196 ochoa IQ domain-containing protein C None
Q4VC44 FLYWCH1 S696 ochoa FLYWCH-type zinc finger-containing protein 1 Transcription cofactor (PubMed:30097457). Negatively regulates transcription activation by catenin beta-1 CTNNB1, perhaps acting by competing with TCF4 for CTNNB1 binding (PubMed:30097457). May play a role in DNA-damage response signaling (PubMed:33924684). Binds specifically to DNA sequences at peri-centromeric chromatin loci. {ECO:0000269|PubMed:30097457, ECO:0000269|PubMed:33924684, ECO:0000269|PubMed:34408139}.
Q53F19 NCBP3 S25 ochoa Nuclear cap-binding protein subunit 3 (Protein ELG) Associates with NCBP1/CBP80 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress situations such as virus infections and the NCBP3 activity is critical to inhibit virus growth (PubMed:26382858). {ECO:0000269|PubMed:26382858}.
Q53T59 HS1BP3 S128 ochoa HCLS1-binding protein 3 (HS1-binding protein 3) (HSP1BP-3) May be a modulator of IL-2 signaling. {ECO:0000250}.
Q5H9R7 PPP6R3 S853 ochoa Serine/threonine-protein phosphatase 6 regulatory subunit 3 (SAPS domain family member 3) (Sporulation-induced transcript 4-associated protein SAPL) Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance. {ECO:0000269|PubMed:11401438, ECO:0000269|PubMed:16769727}.
Q5JTC6 AMER1 S286 ochoa APC membrane recruitment protein 1 (Amer1) (Protein FAM123B) (Wilms tumor gene on the X chromosome protein) Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. {ECO:0000269|PubMed:17510365, ECO:0000269|PubMed:17925383, ECO:0000269|PubMed:19416806, ECO:0000269|PubMed:21304492, ECO:0000269|PubMed:21498506}.
Q5JVF3 PCID2 S45 ochoa PCI domain-containing protein 2 (CSN12-like protein) Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:22307388). Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability (PubMed:24896180). Blocks the activity of the SRCAP chromatin remodeling complex by interacting with SRCAP complex member ZNHIT1 and inhibiting its interaction with the complex (By similarity). This prevents the deposition of histone variant H2AZ1/H2A.Z at the nucleosomes of key lymphoid fate regulator genes which suppresses their expression and restricts lymphoid lineage commitment (By similarity). {ECO:0000250|UniProtKB:Q8BFV2, ECO:0000269|PubMed:22307388, ECO:0000269|PubMed:24896180, ECO:0000305|PubMed:23591820}.
Q5JYT7 KIAA1755 S548 ochoa Uncharacterized protein KIAA1755 None
Q5T200 ZC3H13 S198 ochoa Zinc finger CCCH domain-containing protein 13 Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (By similarity). {ECO:0000250|UniProtKB:E9Q784}.
Q5TAX3 TUT4 S296 ochoa Terminal uridylyltransferase 4 (TUTase 4) (EC 2.7.7.52) (Zinc finger CCHC domain-containing protein 11) Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:25480299, PubMed:31036859). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesis using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7), miR107, miR-143 and miR-200c. Uridylated miRNAs are not processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the maintenance of embryonic stem (ES) cell pluripotency (By similarity). Also catalyzes the 3' uridylation of miR-26A, a miRNA that targets IL6 transcript. This abrogates the silencing of IL6 transcript, hence promoting cytokine expression (PubMed:19703396). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828). Adds oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). May also suppress Toll-like receptor-induced NF-kappa-B activation via binding to T2BP (PubMed:16643855). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (By similarity) (PubMed:16643855, PubMed:18172165, PubMed:19703396, PubMed:25480299, PubMed:25979828). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351). {ECO:0000250|UniProtKB:B2RX14, ECO:0000269|PubMed:16643855, ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:19703396, ECO:0000269|PubMed:25480299, ECO:0000269|PubMed:25979828, ECO:0000269|PubMed:30122351, ECO:0000269|PubMed:31036859}.
Q5TGY3 AHDC1 S179 ochoa Transcription factor Gibbin (AT-hook DNA-binding motif-containing protein 1) Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237). {ECO:0000269|PubMed:35585237}.
Q5THK1 PRR14L S1391 ochoa Protein PRR14L (Proline rich 14-like protein) None
Q5VST9 OBSCN S6881 ochoa Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK) Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662). {ECO:0000250|UniProtKB:A2AAJ9, ECO:0000269|PubMed:11448995, ECO:0000269|PubMed:16205939, ECO:0000269|PubMed:28826662}.
Q5VT06 CEP350 S1653 ochoa Centrosome-associated protein 350 (Cep350) (Centrosome-associated protein of 350 kDa) Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CPAP (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385). {ECO:0000269|PubMed:15615782, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:17878239, ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:28659385}.
Q5VU97 CACHD1 S1178 ochoa VWFA and cache domain-containing protein 1 (Cache domain-containing protein 1) May regulate voltage-dependent calcium channels. {ECO:0000250}.
Q5VV41 ARHGEF16 S240 ochoa Rho guanine nucleotide exchange factor 16 (Ephexin-4) Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6. {ECO:0000269|PubMed:20679435}.
Q5VV52 ZNF691 S39 ochoa Zinc finger protein 691 May be involved in transcriptional regulation.
Q5VVJ2 MYSM1 S340 ochoa Deubiquitinase MYSM1 (2A-DUB) (EC 3.4.19.-) (Myb-like, SWIRM and MPN domain-containing protein 1) Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal programming of B-cell responses to antigen after the maturation process (By similarity). Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity (PubMed:33086059). Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes (By similarity). Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component (By similarity). Suppresses the CGAS-STING1 signaling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains (PubMed:33086059). In the nucleus, acts as a hematopoietic transcription regulator derepressing a range of genes essential for normal stem cell differentiation including EBF1 and PAX5 in B-cells, ID2 in NK-cell progenitor or FLT3 in dendritic cell precursors (PubMed:24062447). Deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, leading to dissociation of histone H1 from the nucleosome (PubMed:17707232). {ECO:0000250|UniProtKB:Q69Z66, ECO:0000269|PubMed:17707232, ECO:0000269|PubMed:22169041, ECO:0000269|PubMed:24062447, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216, ECO:0000269|PubMed:33086059}.
Q5VYS8 TUT7 S172 ochoa Terminal uridylyltransferase 7 (TUTase 7) (EC 2.7.7.52) (Zinc finger CCHC domain-containing protein 6) Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:18172165, PubMed:19703396, PubMed:22898984, PubMed:25480299, PubMed:25979828, PubMed:28671666). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351). {ECO:0000250|UniProtKB:Q5BLK4, ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:19703396, ECO:0000269|PubMed:22898984, ECO:0000269|PubMed:25480299, ECO:0000269|PubMed:25979828, ECO:0000269|PubMed:28671666, ECO:0000269|PubMed:30122351}.
Q641Q2 WASHC2A S498 ochoa WASH complex subunit 2A Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L. {ECO:0000269|PubMed:25355947, ECO:0000269|PubMed:28892079}.
Q658Y4 FAM91A1 S691 ochoa Protein FAM91A1 As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. {ECO:0000269|PubMed:29426865}.
Q68CQ4 UTP25 S153 ochoa U3 small nucleolar RNA-associated protein 25 homolog (Digestive organ expansion factor homolog) (UTP25 small subunit processor component) Component of the ribosomal small subunit processome for the biogenesis of ribosomes, functions in pre-ribosomal RNA (pre-rRNA) processing (By similarity). Essential for embryonic development in part through the regulation of p53 pathway. Controls the expansion growth of digestive organs and liver (PubMed:23357851, PubMed:25007945, PubMed:27657329). Also involved in the sympathetic neuronal development (By similarity). Mediates, with CAPN3, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329). {ECO:0000250|UniProtKB:Q6PEH4, ECO:0000269|PubMed:23357851, ECO:0000269|PubMed:25007945, ECO:0000269|PubMed:27657329}.
Q6IE81 JADE1 S293 ochoa Protein Jade-1 (Jade family PHD finger protein 1) (PHD finger protein 17) Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity (PubMed:16387653, PubMed:19187766, PubMed:20129055, PubMed:24065767). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H4 acetylation (H4K5ac, H4K8ac and H4K12ac), regulating DNA replication initiation, regulating DNA replication initiation (PubMed:20129055, PubMed:24065767). May also promote acetylation of nucleosomal histone H4 by KAT5 (PubMed:15502158). Promotes apoptosis (PubMed:16046545). May act as a renal tumor suppressor (PubMed:16046545). Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function (PubMed:22654112). {ECO:0000269|PubMed:15502158, ECO:0000269|PubMed:16046545, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:19187766, ECO:0000269|PubMed:20129055, ECO:0000269|PubMed:22654112, ECO:0000269|PubMed:24065767}.
Q6IQ49 SDE2 S278 ochoa Splicing regulator SDE2 (Replication stress response regulator SDE2) Inhibits translesion DNA synthesis by preventing monoubiquitination of PCNA, this is necessary to counteract damage due to ultraviolet light-induced replication stress (PubMed:27906959). SDE2 is cleaved following PCNA binding, and its complete degradation is necessary to allow S-phase progression following DNA damage (PubMed:27906959). {ECO:0000269|PubMed:27906959}.; FUNCTION: Plays a role in pre-mRNA splicing by facilitating excision of relatively short introns featuring weak 3'-splice sites (ss) and high GC content (PubMed:34365507). May recruit CACTIN to the spliceosome (By similarity). {ECO:0000250|UniProtKB:O14113, ECO:0000269|PubMed:34365507}.; FUNCTION: Plays a role in ribosome biogenesis by enabling SNORD3- and SNORD118-dependent cleavage of the 47S rRNA precursor (PubMed:34365507). Binds ncRNA (non-coding RNA) including the snoRNAs SNORD3 and SNORD118 (PubMed:34365507). {ECO:0000269|PubMed:34365507}.
Q6P5Z2 PKN3 S171 ochoa Serine/threonine-protein kinase N3 (EC 2.7.11.13) (Protein kinase PKN-beta) (Protein-kinase C-related kinase 3) Contributes to invasiveness in malignant prostate cancer. {ECO:0000269|PubMed:15282551}.
Q6PIF6 MYO7B S1582 ochoa Unconventional myosin-VIIb Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length (PubMed:24725409, PubMed:26812018, PubMed:32209652). May link the complex to the actin core bundle of microvilli. {ECO:0000269|PubMed:24725409, ECO:0000269|PubMed:26812018, ECO:0000269|PubMed:32209652, ECO:0000305|PubMed:24725409, ECO:0000305|PubMed:26812018}.
Q6PIZ9 TRAT1 S157 ochoa T-cell receptor-associated transmembrane adapter 1 (T-cell receptor-interacting molecule) (TRIM) (pp29/30) Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells. {ECO:0000269|PubMed:11390434}.
Q6PJG2 MIDEAS S718 ochoa Mitotic deacetylase-associated SANT domain protein (ELM2 and SANT domain-containing protein 1) None
Q6PJI9 WDR59 S822 ochoa GATOR2 complex protein WDR59 (WD repeat-containing protein 59) As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36577058). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation (PubMed:36528027). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25457612, PubMed:27487210). {ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210, ECO:0000269|PubMed:35831510, ECO:0000269|PubMed:36528027, ECO:0000269|PubMed:36577058}.
Q6ZRS2 SRCAP S2840 ochoa Helicase SRCAP (EC 3.6.4.-) (Domino homolog 2) (Snf2-related CBP activator) Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription. {ECO:0000269|PubMed:10347196, ECO:0000269|PubMed:11522779, ECO:0000269|PubMed:14500758, ECO:0000269|PubMed:16024792, ECO:0000269|PubMed:16634648, ECO:0000269|PubMed:17617668}.
Q709C8 VPS13C S2071 ochoa Intermembrane lipid transfer protein VPS13C (Vacuolar protein sorting-associated protein 13C) Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential (PubMed:26942284). Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization (PubMed:26942284). {ECO:0000250|UniProtKB:Q07878, ECO:0000269|PubMed:26942284}.
Q76L83 ASXL2 S580 ochoa Putative Polycomb group protein ASXL2 (Additional sex combs-like protein 2) Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:30664650, PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) (PubMed:30664650). The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability (PubMed:30664650). {ECO:0000250, ECO:0000250|UniProtKB:Q8BZ32, ECO:0000269|PubMed:21047783, ECO:0000269|PubMed:30664650, ECO:0000269|PubMed:36180891}.
Q7Z589 EMSY S818 ochoa BRCA2-interacting transcriptional repressor EMSY Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin (PubMed:14651845). Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338). {ECO:0000269|PubMed:14651845, ECO:0000269|PubMed:19131338}.
Q7Z5J4 RAI1 S880 ochoa Retinoic acid-induced protein 1 Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation. {ECO:0000269|PubMed:22578325}.
Q7Z6B7 SRGAP1 S906 ochoa SLIT-ROBO Rho GTPase-activating protein 1 (srGAP1) (Rho GTPase-activating protein 13) GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42. {ECO:0000269|PubMed:11672528}.
Q7Z6I6 ARHGAP30 S678 ochoa Rho GTPase-activating protein 30 (Rho-type GTPase-activating protein 30) GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42. {ECO:0000269|PubMed:21565175}.
Q7Z6J2 TAMALIN S94 ochoa Protein TAMALIN (General receptor for phosphoinositides 1-associated scaffold protein) (GRP1-associated scaffold protein) Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses. {ECO:0000250}.
Q86SX3 TEDC1 S35 ochoa Tubulin epsilon and delta complex protein 1 Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability (By similarity). May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F (PubMed:28796488). {ECO:0000250|UniProtKB:Q3UK37, ECO:0000269|PubMed:28796488}.
Q86U28 ISCA2 S42 ochoa Iron-sulfur cluster assembly 2 homolog, mitochondrial (HESB-like domain-containing protein 1) Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. {ECO:0000269|PubMed:22323289}.
Q86UP2 KTN1 S1313 ochoa Kinectin (CG-1 antigen) (Kinesin receptor) Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.
Q86YC2 PALB2 S209 ochoa Partner and localizer of BRCA2 Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656). {ECO:0000269|PubMed:16793542, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:19423707, ECO:0000269|PubMed:20871615, ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:22941656, ECO:0000269|PubMed:24141787, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:28319063}.
Q8IUD2 ERC1 S730 ochoa ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2) Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269|PubMed:15218148}.
Q8IUG5 MYO18B S2542 ochoa Unconventional myosin-XVIIIb May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.
Q8IVF2 AHNAK2 S5175 ochoa Protein AHNAK2 None
Q8IW40 DNAAF19 S91 ochoa Dynein axonemal assembly factor 19 (Coiled-coil domain-containing protein 103) Dynein-attachment factor required for cilia motility. {ECO:0000269|PubMed:22581229}.
Q8IWA0 WDR75 S672 ochoa WD repeat-containing protein 75 (U3 small nucleolar RNA-associated protein 17 homolog) Ribosome biogenesis factor. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. {ECO:0000269|PubMed:17699751, ECO:0000269|PubMed:34516797}.
Q8IWE2 FAM114A1 S40 ochoa Protein NOXP20 (Nervous system overexpressed protein 20) (Protein FAM114A1) May play a role in neuronal cell development. {ECO:0000250}.
Q8IXT5 RBM12B S575 ochoa RNA-binding protein 12B (RNA-binding motif protein 12B) None
Q8IY37 DHX37 S242 ochoa Probable ATP-dependent RNA helicase DHX37 (EC 3.6.4.13) (DEAH box protein 37) ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably also plays a role in brain development (PubMed:31256877). {ECO:0000269|PubMed:30582406, ECO:0000269|PubMed:31256877, ECO:0000269|PubMed:31287541, ECO:0000269|PubMed:31337883, ECO:0000269|PubMed:34516797}.
Q8IYB7 DIS3L2 S517 ochoa DIS3-like exonuclease 2 (hDIS3L2) (EC 3.1.13.-) 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. {ECO:0000255|HAMAP-Rule:MF_03045, ECO:0000269|PubMed:23756462, ECO:0000269|PubMed:24141620}.
Q8N2M8 CLASRP S101 ochoa CLK4-associating serine/arginine rich protein (Splicing factor, arginine/serine-rich 16) (Suppressor of white-apricot homolog 2) Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity). {ECO:0000250}.
Q8N3R9 PALS1 S25 ochoa Protein PALS1 (MAGUK p55 subfamily member 5) (Membrane protein, palmitoylated 5) (Protein associated with Lin-7 1) Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (PubMed:16678097, PubMed:25385611). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity (PubMed:27466317). Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebellar progenitor cells in an undifferentiated proliferative state, preventing premature differentiation, and is required for cerebellar histogenesis, fissure formation, cerebellar layer organization and cortical development (By similarity). Plays a role in neuronal progenitor cell survival, potentially via promotion of mTOR signaling (By similarity). Plays a role in the radial and longitudinal extension of the myelin sheath in Schwann cells (By similarity). May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter (By similarity). Plays a role in the T-cell receptor-mediated activation of NF-kappa-B (PubMed:21479189). Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity). Required for the normal polarized localization of the vesicular marker STX4 (By similarity). Required for the correct trafficking of the myelin proteins PMP22 and MAG (By similarity). Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7 (By similarity). {ECO:0000250|UniProtKB:B4F7E7, ECO:0000250|UniProtKB:Q9JLB2, ECO:0000269|PubMed:16678097, ECO:0000269|PubMed:21479189, ECO:0000269|PubMed:25385611, ECO:0000269|PubMed:27466317}.; FUNCTION: (Microbial infection) Acts as an interaction partner for human coronaviruses SARS-CoV and, probably, SARS-CoV-2 envelope protein E which results in delayed formation of tight junctions and disregulation of cell polarity. {ECO:0000269|PubMed:20861307, ECO:0000303|PubMed:32891874}.
Q8N3Z3 GTPBP8 S74 ochoa GTP-binding protein 8 None
Q8N7W2 BEND7 S260 ochoa BEN domain-containing protein 7 None
Q8NC44 RETREG2 S132 ochoa Reticulophagy regulator 2 Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins (PubMed:34338405). Required for collagen quality control in a LIR motif-independent manner (By similarity). {ECO:0000250|UniProtKB:Q6NS82, ECO:0000269|PubMed:34338405}.
Q8NDV7 TNRC6A S991 ochoa Trinucleotide repeat-containing gene 6A protein (CAG repeat protein 26) (EMSY interactor protein) (GW182 autoantigen) (Protein GW1) (Glycine-tryptophan protein of 182 kDa) Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes. {ECO:0000269|PubMed:16284622, ECO:0000269|PubMed:16284623, ECO:0000269|PubMed:17596515, ECO:0000269|PubMed:17671087, ECO:0000269|PubMed:19056672, ECO:0000269|PubMed:19304925}.
Q8NEG4 FAM83F S61 ochoa Protein FAM83F None
Q8NF50 DOCK8 S139 ochoa Dedicator of cytokinesis protein 8 Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780). {ECO:0000250|UniProtKB:Q8C147, ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780, ECO:0000269|PubMed:28028151}.
Q8NFP9 NBEA S1011 ochoa Neurobeachin (Lysosomal-trafficking regulator 2) (Protein BCL8B) Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). {ECO:0000250}.
Q8NI35 PATJ S522 ochoa InaD-like protein (Inadl protein) (hINADL) (Channel-interacting PDZ domain-containing protein) (Pals1-associated tight junction protein) (Protein associated to tight junctions) Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Acts (via its L27 domain) as an apical connector and elongation factor for multistranded TJP1/ZO1 condensates that form a tight junction belt, thereby required for the formation of the tight junction-mediated cell barrier (By similarity). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950). {ECO:0000250|UniProtKB:E2QYC9, ECO:0000250|UniProtKB:Q63ZW7, ECO:0000269|PubMed:11927608, ECO:0000269|PubMed:16678097, ECO:0000269|PubMed:22006950}.
Q8TC44 POC1B S398 ochoa POC1 centriolar protein homolog B (Pix1) (Proteome of centriole protein 1B) (WD repeat-containing protein 51B) Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation (PubMed:32060285). Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745). Acts as a positive regulator of centriole elongation (PubMed:37934472). {ECO:0000269|PubMed:19109428, ECO:0000269|PubMed:20008567, ECO:0000269|PubMed:23015594, ECO:0000269|PubMed:25044745, ECO:0000269|PubMed:32060285, ECO:0000269|PubMed:37934472}.
Q8TDD1 DDX54 S527 ochoa ATP-dependent RNA helicase DDX54 (EC 3.6.4.13) (ATP-dependent RNA helicase DP97) (DEAD box RNA helicase 97 kDa) (DEAD box protein 54) Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors. {ECO:0000269|PubMed:12466272}.
Q8TDI0 CHD5 S1631 ochoa Chromodomain-helicase-DNA-binding protein 5 (CHD-5) (EC 3.6.4.-) (ATP-dependent helicase CHD5) ATP-dependent chromatin-remodeling factor that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa. {ECO:0000250|UniProtKB:A2A8L1, ECO:0000269|PubMed:23948251}.
Q8TDM6 DLG5 S1146 ochoa Disks large homolog 5 (Discs large protein P-dlg) (Placenta and prostate DLG) Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity). {ECO:0000250|UniProtKB:E9Q9R9, ECO:0000269|PubMed:28087714, ECO:0000269|PubMed:28169360}.
Q8TDX7 NEK7 S204 ochoa|psp Serine/threonine-protein kinase Nek7 (EC 2.7.11.34) (Never in mitosis A-related kinase 7) (NimA-related protein kinase 7) Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:17101132, PubMed:19941817, PubMed:31409757). Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis (PubMed:17586473, PubMed:19414596, PubMed:19941817, PubMed:26522158, PubMed:31409757). Phosphorylates EML4 at 'Ser-146', promoting its dissociation from microtubules during mitosis which is required for efficient chromosome congression (PubMed:31409757). Phosphorylates RPS6KB1 (By similarity). Acts as an essential activator of the NLRP3 inflammasome assembly independently of its kinase activity (PubMed:26642356, PubMed:36442502, PubMed:39173637). Acts by unlocking NLRP3 following NLRP3 tranlocation into the microtubule organizing center (MTOC), relieving NLRP3 autoinhibition and promoting formation of the NLRP3:PYCARD complex, and activation of CASP1 (PubMed:26642356, PubMed:31189953, PubMed:36442502, PubMed:39173637). Serves as a cellular switch that enforces mutual exclusivity of the inflammasome response and cell division: interaction with NEK9 prevents interaction with NLRP3 and activation of the inflammasome during mitosis (PubMed:26642356, PubMed:31189953). {ECO:0000250|UniProtKB:D3ZBE5, ECO:0000269|PubMed:17101132, ECO:0000269|PubMed:17586473, ECO:0000269|PubMed:19414596, ECO:0000269|PubMed:19941817, ECO:0000269|PubMed:26522158, ECO:0000269|PubMed:26642356, ECO:0000269|PubMed:31189953, ECO:0000269|PubMed:31409757, ECO:0000269|PubMed:36442502, ECO:0000269|PubMed:39173637}.
Q8TDY4 ASAP3 S862 ochoa Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (Development and differentiation-enhancing factor-like 1) (Protein up-regulated in liver cancer 1) Promotes cell proliferation. {ECO:0000269|PubMed:14654939}.
Q8TE68 EPS8L1 S676 ochoa Epidermal growth factor receptor kinase substrate 8-like protein 1 (EPS8-like protein 1) (Epidermal growth factor receptor pathway substrate 8-related protein 1) (EPS8-related protein 1) Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. {ECO:0000269|PubMed:14565974}.
Q8WUY3 PRUNE2 S2189 ochoa Protein prune homolog 2 (BNIP2 motif-containing molecule at the C-terminal region 1) May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells. {ECO:0000269|PubMed:16288218}.
Q8WWI1 LMO7 S1129 ochoa LIM domain only protein 7 (LMO-7) (F-box only protein 20) (LOMP) None
Q8WY36 BBX S75 ochoa HMG box transcription factor BBX (Bobby sox homolog) (HMG box-containing protein 2) Transcription factor that is necessary for cell cycle progression from G1 to S phase. {ECO:0000269|PubMed:11680820}.
Q8WYB5 KAT6B S889 ochoa Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor) Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. {ECO:0000269|PubMed:10497217, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:16387653}.
Q8WYB5 KAT6B S1048 ochoa Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor) Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. {ECO:0000269|PubMed:10497217, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:16387653}.
Q92616 GCN1 S2276 ochoa Stalled ribosome sensor GCN1 (GCN1 eIF-2-alpha kinase activator homolog) (GCN1-like protein 1) (General control of amino-acid synthesis 1-like protein 1) (Translational activator GCN1) (HsGCN1) Ribosome collision sensor that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes (PubMed:32610081, PubMed:36638793, PubMed:37651229, PubMed:37951215, PubMed:37951216). Directly binds to the ribosome and acts as a sentinel for colliding ribosomes: activated following ribosome stalling and promotes recruitment of RNF14, which directly ubiquitinates EEF1A1/eEF1A, leading to its degradation (PubMed:36638793, PubMed:37951215, PubMed:37951216). In addition to EEF1A1/eEF1A, the RNF14-RNF25 translation quality control pathway mediates degradation of ETF1/eRF1 and ubiquitination of ribosomal protein (PubMed:36638793, PubMed:37651229). GCN1 also acts as a positive activator of the integrated stress response (ISR) by mediating activation of EIF2AK4/GCN2 in response to amino acid starvation (By similarity). Interaction with EIF2AK4/GCN2 on translating ribosomes stimulates EIF2AK4/GCN2 kinase activity, leading to phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) (By similarity). EIF2S1/eIF-2-alpha phosphorylation converts EIF2S1/eIF-2-alpha into a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, and thus to a reduced overall utilization of amino acids, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion (By similarity). {ECO:0000250|UniProtKB:E9PVA8, ECO:0000269|PubMed:32610081, ECO:0000269|PubMed:36638793, ECO:0000269|PubMed:37651229, ECO:0000269|PubMed:37951215, ECO:0000269|PubMed:37951216}.
Q92628 KIAA0232 S158 ochoa Uncharacterized protein KIAA0232 None
Q92794 KAT6A S678 ochoa Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220) Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}.
Q92794 KAT6A S954 ochoa Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220) Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}.
Q92817 EVPL S1263 ochoa Envoplakin (210 kDa cornified envelope precursor protein) (210 kDa paraneoplastic pemphigus antigen) (p210) Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.
Q92917 GPKOW S42 ochoa G-patch domain and KOW motifs-containing protein (G-patch domain-containing protein 5) (Protein MOS2 homolog) (Protein T54) RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:25296192, ECO:0000305|PubMed:33509932}.
Q96BY6 DOCK10 S292 ochoa Dedicator of cytokinesis protein 10 (Zizimin-3) Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression. {ECO:0000250|UniProtKB:Q8BZN6}.
Q96CW5 TUBGCP3 S614 ochoa Gamma-tubulin complex component 3 (GCP-3) (hGCP3) (Gamma-ring complex protein 104 kDa) (h104p) (hGrip104) (Spindle pole body protein Spc98 homolog) (hSpc98) Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809, PubMed:9566967). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809). {ECO:0000269|PubMed:38305685, ECO:0000269|PubMed:38609661, ECO:0000269|PubMed:39321809, ECO:0000269|PubMed:9566967}.
Q96D09 GPRASP2 S534 ochoa G-protein coupled receptor-associated sorting protein 2 (GASP-2) May play a role in regulation of a variety of G-protein coupled receptors. {ECO:0000269|PubMed:15086532}.
Q96D09 GPRASP2 S550 ochoa G-protein coupled receptor-associated sorting protein 2 (GASP-2) May play a role in regulation of a variety of G-protein coupled receptors. {ECO:0000269|PubMed:15086532}.
Q96EK9 KTI12 S205 ochoa Protein KTI12 homolog None
Q96IZ5 RBM41 S260 ochoa RNA-binding protein 41 (RNA-binding motif protein 41) May bind RNA. {ECO:0000305}.
Q96JA1 LRIG1 S1046 ochoa Leucine-rich repeats and immunoglobulin-like domains protein 1 (LIG-1) Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation. {ECO:0000269|PubMed:15282549}.
Q96JC9 EAF1 S165 ochoa ELL-associated factor 1 Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. {ECO:0000269|PubMed:11418481, ECO:0000269|PubMed:16006523}.
Q96JM2 ZNF462 S1451 ochoa Zinc finger protein 462 (Zinc finger PBX1-interacting protein) (ZFPIP) Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965). {ECO:0000250|UniProtKB:B1AWL2, ECO:0000269|PubMed:20219459, ECO:0000269|PubMed:21570965}.
Q96JM3 CHAMP1 S675 ochoa Chromosome alignment-maintaining phosphoprotein 1 (Zinc finger protein 828) Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore. {ECO:0000269|PubMed:21063390}.
Q96P47 AGAP3 S121 ochoa Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (AGAP-3) (CRAM-associated GTPase) (CRAG) (Centaurin-gamma-3) (Cnt-g3) (MR1-interacting protein) (MRIP-1) GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:16461359, ECO:0000305}.
Q96PX6 CCDC85A S255 ochoa Coiled-coil domain-containing protein 85A May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family. {ECO:0000305|PubMed:25009281}.
Q96PX6 CCDC85A S358 ochoa Coiled-coil domain-containing protein 85A May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family. {ECO:0000305|PubMed:25009281}.
Q96PZ2 FAM111A S508 ochoa Serine protease FAM111A (EC 3.4.21.-) Single-stranded DNA-binding serine protease that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:32165630). DPCs are highly toxic DNA lesions that interfere with essential chromatin transactions, such as replication and transcription, and which are induced by reactive agents, such as UV light or formaldehyde (PubMed:32165630). Protects replication fork from stalling by removing DPCs, such as covalently trapped topoisomerase 1 (TOP1) adducts on DNA lesion, or poly(ADP-ribose) polymerase 1 (PARP1)-DNA complexes trapped by PARP inhibitors (PubMed:32165630). Required for PCNA loading on replication sites (PubMed:24561620). Promotes S-phase entry and DNA synthesis (PubMed:24561620). Also acts as a restriction factor for some viruses including SV40 polyomavirus and vaccinia virus (PubMed:23093934, PubMed:37607234). Mechanistically, affects nuclear barrier function during viral replication by mediating the disruption of the nuclear pore complex (NPC) via its protease activity (PubMed:33369867, PubMed:37607234). In turn, interacts with vaccinia virus DNA-binding protein OPG079 in the cytoplasm and promotes its degradation without the need of its protease activity but through autophagy (PubMed:37607234). {ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:32165630, ECO:0000269|PubMed:37607234}.
Q96QE3 ATAD5 S86 ochoa ATPase family AAA domain-containing protein 5 (Chromosome fragility-associated gene 1 protein) Has an important role in DNA replication and in maintaining genome integrity during replication stress (PubMed:15983387, PubMed:19755857). Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis (PubMed:15983387). Modulates the RAD9A interaction with BCL2 and thereby induces DNA damage-induced apoptosis (PubMed:15983387). Promotes PCNA deubiquitination by recruiting the ubiquitin-specific protease 1 (USP1) and WDR48 thereby down-regulating the error-prone damage bypass pathway (PubMed:20147293). As component of the ATAD5 RFC-like complex, regulates the function of the DNA polymerase processivity factor PCNA by unloading the ring-shaped PCNA homotrimer from DNA after replication during the S phase of the cell cycle (PubMed:23277426, PubMed:23937667). This seems to be dependent on its ATPase activity (PubMed:23277426). Plays important roles in restarting stalled replication forks under replication stress, by unloading the PCNA homotrimer from DNA and recruiting RAD51 possibly through an ATR-dependent manner (PubMed:31844045). Ultimately this enables replication fork regression, breakage, and eventual fork restart (PubMed:31844045). Both the PCNA unloading activity and the interaction with WDR48 are required to efficiently recruit RAD51 to stalled replication forks (PubMed:31844045). Promotes the generation of MUS81-mediated single-stranded DNA-associated breaks in response to replication stress, which is an alternative pathway to restart stalled/regressed replication forks (PubMed:31844045). {ECO:0000269|PubMed:15983387, ECO:0000269|PubMed:19755857, ECO:0000269|PubMed:20147293, ECO:0000269|PubMed:23277426, ECO:0000269|PubMed:23937667, ECO:0000269|PubMed:31844045}.
Q96SN8 CDK5RAP2 S1350 ochoa CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215) Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter (PubMed:19282672). Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends (PubMed:18042621, PubMed:17959831, PubMed:19553473). Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gTuRC) onto centrosomes (PubMed:18042621, PubMed:17959831, PubMed:26485573, PubMed:39321809). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity). {ECO:0000250|UniProtKB:Q8K389, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:17959831, ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:19282672, ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:39321809}.
Q96T23 RSF1 S622 ochoa Remodeling and spacing factor 1 (Rsf-1) (HBV pX-associated protein 8) (Hepatitis B virus X-associated protein) (p325 subunit of RSF chromatin-remodeling complex) Regulatory subunit of the ATP-dependent RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:12972596, PubMed:28801535). Binds to core histones together with SMARCA5, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex (PubMed:12972596). Directly stimulates the ATPase activity of SMARCA1 and SMARCA5 in the RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, respectively (PubMed:28801535). The RSF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the RSF-5 ISWI chromatin-remodeling complex (PubMed:28801535). The complexes do not have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain (PubMed:11788598, PubMed:11944984). {ECO:0000269|PubMed:11788598, ECO:0000269|PubMed:11944984, ECO:0000269|PubMed:12972596, ECO:0000269|PubMed:28801535}.
Q96T37 RBM15 S365 ochoa RNA-binding protein 15 (One-twenty two protein 1) (RNA-binding motif protein 15) RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311). {ECO:0000250|UniProtKB:Q0VBL3, ECO:0000269|PubMed:17001072, ECO:0000269|PubMed:19786495, ECO:0000269|PubMed:26575292, ECO:0000269|PubMed:27602518, ECO:0000305|PubMed:11344311}.
Q96T58 SPEN S2159 ochoa Msx2-interacting protein (SMART/HDAC1-associated repressor protein) (SPEN homolog) May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA. {ECO:0000250|UniProtKB:Q62504, ECO:0000269|PubMed:11331609, ECO:0000269|PubMed:12374742}.
Q99590 SCAF11 S629 ochoa Protein SCAF11 (CTD-associated SR protein 11) (Renal carcinoma antigen NY-REN-40) (SC35-interacting protein 1) (SR-related and CTD-associated factor 11) (SRSF2-interacting protein) (Serine/arginine-rich splicing factor 2-interacting protein) (Splicing factor, arginine/serine-rich 2-interacting protein) (Splicing regulatory protein 129) (SRrp129) Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. {ECO:0000269|PubMed:9447963}.
Q99697 PITX2 S40 ochoa Pituitary homeobox 2 (ALL1-responsive protein ARP1) (Homeobox protein PITX2) (Paired-like homeodomain transcription factor 2) (RIEG bicoid-related homeobox transcription factor) (Solurshin) May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation. {ECO:0000250|UniProtKB:P97474}.; FUNCTION: [Isoform PTX2C]: Involved in the establishment of left-right asymmetry in the developing embryo. {ECO:0000250|UniProtKB:P97474}.
Q99829 CPNE1 S55 ochoa Copine-1 (Chromobindin 17) (Copine I) Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:19539605, PubMed:9430674). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740). {ECO:0000269|PubMed:12522145, ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740, ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657, ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}.
Q9BQI7 PSD2 S191 ochoa PH and SEC7 domain-containing protein 2 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 C) (Exchange factor for ARF6 C) (Pleckstrin homology and SEC7 domain-containing protein 2) None
Q9BRT9 GINS4 S123 ochoa DNA replication complex GINS protein SLD5 (GINS complex subunit 4) [Cleaved into: DNA replication complex GINS protein SLD5, N-terminally processed] Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232). {ECO:0000269|PubMed:17417653, ECO:0000269|PubMed:28414293, ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232}.
Q9BTF0 THUMPD2 S457 ochoa U6 snRNA (guanine-N(2))-methyltransferase THUMPD2 (EC 2.1.1.-) (THUMP domain-containing protein 2) Catalytic subunit of the THUMPD2-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotides, most probably at position 72 (m2G72), in the U6snRNA of the major spliceosome (PubMed:37283053). This modification in the U6 snRNA affects the constitutive splicing efficiency of introns that have suboptimal splice sites and can impact final mRNA levels (PubMed:37283053). {ECO:0000269|PubMed:37283053}.
Q9BTW9 TBCD S805 ochoa Tubulin-specific chaperone D (Beta-tubulin cofactor D) (tfcD) (SSD-1) (Tubulin-folding cofactor D) Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374). {ECO:0000269|PubMed:10722852, ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:20740604, ECO:0000269|PubMed:27666370, ECO:0000269|PubMed:27666374, ECO:0000269|PubMed:28158450}.
Q9BVV6 KIAA0586 S1130 ochoa Protein TALPID3 Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity). {ECO:0000250|UniProtKB:E9PV87, ECO:0000250|UniProtKB:Q1G7G9, ECO:0000269|PubMed:24421332}.
Q9BX63 BRIP1 S128 ochoa Fanconi anemia group J protein (EC 5.6.2.3) (BRCA1-associated C-terminal helicase 1) (BRCA1-interacting protein C-terminal helicase 1) (BRCA1-interacting protein 1) (DNA 5'-3' helicase FANCJ) DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669). Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination (PubMed:14983014, PubMed:16153896). Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (PubMed:14983014, PubMed:16153896). Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalyzing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease (PubMed:16116421, PubMed:36608669). Can unwind RNA:DNA substrates (PubMed:14983014). Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail (PubMed:18426915, PubMed:20639400). {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896, ECO:0000269|PubMed:17596542, ECO:0000269|PubMed:18426915, ECO:0000269|PubMed:20639400, ECO:0000269|PubMed:36608669}.
Q9BXL5 HEMGN S381 ochoa Hemogen (Erythroid differentiation-associated gene protein) (EDAG-1) (Hemopoietic gene protein) (Negative differentiation regulator protein) Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB). {ECO:0000269|PubMed:14730214, ECO:0000269|PubMed:15332117, ECO:0000269|PubMed:15920494}.
Q9BYT8 NLN S53 ochoa Neurolysin, mitochondrial (EC 3.4.24.16) (Angiotensin-binding protein) (Microsomal endopeptidase) (MEP) (Mitochondrial oligopeptidase M) (Neurotensin endopeptidase) Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A (By similarity). Acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (By similarity). {ECO:0000250|UniProtKB:P42676}.
Q9BYX4 IFIH1 S301 ochoa Interferon-induced helicase C domain-containing protein 1 (EC 3.6.4.13) (Clinically amyopathic dermatomyositis autoantigen 140 kDa) (CADM-140 autoantigen) (Helicase with 2 CARD domains) (Helicard) (Interferon-induced with helicase C domain protein 1) (Melanoma differentiation-associated protein 5) (MDA-5) (Murabutide down-regulated protein) (RIG-I-like receptor 2) (RLR-2) (RNA helicase-DEAD box protein 116) Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-inflammatory cytokines (PubMed:28594402, PubMed:32169843, PubMed:33727702). Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length) (PubMed:22160685). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV), mengo encephalomyocarditis virus (ENMG), and rhinovirus (PubMed:28606988). Detects coronavirus SARS-CoV-2 (PubMed:33440148, PubMed:33514628). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines. {ECO:0000269|PubMed:14645903, ECO:0000269|PubMed:19211564, ECO:0000269|PubMed:19656871, ECO:0000269|PubMed:21217758, ECO:0000269|PubMed:21742966, ECO:0000269|PubMed:22160685, ECO:0000269|PubMed:28594402, ECO:0000269|PubMed:28606988, ECO:0000269|PubMed:29117565, ECO:0000269|PubMed:33440148, ECO:0000269|PubMed:33514628, ECO:0000269|PubMed:33727702}.
Q9BZD4 NUF2 S247 ochoa Kinetochore protein Nuf2 (hNuf2) (hNuf2R) (hsNuf2) (Cell division cycle-associated protein 1) Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:12438418, PubMed:14654001, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:17535814). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). {ECO:0000269|PubMed:12438418, ECO:0000269|PubMed:14654001, ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793, ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592, ECO:0000269|PubMed:17535814, ECO:0000269|PubMed:23085020}.
Q9C035 TRIM5 S86 ochoa Tripartite motif-containing protein 5 (EC 2.3.2.27) (RING finger protein 88) (RING-type E3 ubiquitin transferase TRIM5) Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1-UBE2N (also known as UBC13-UEV1A complex) generates 'Lys-63'-linked polyubiquitin chains, which in turn are catalysts in the autophosphorylation of the MAP3K7/TAK1 complex (includes TAK1, TAB2, and TAB3). Activation of the MAP3K7/TAK1 complex by autophosphorylation results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes, thereby leading to an innate immune response in the infected cell. Restricts infection by N-tropic murine leukemia virus (N-MLV), equine infectious anemia virus (EIAV), simian immunodeficiency virus of macaques (SIVmac), feline immunodeficiency virus (FIV), and bovine immunodeficiency virus (BIV) (PubMed:17156811). Plays a role in regulating autophagy through activation of autophagy regulator BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Also plays a role in autophagy by acting as a selective autophagy receptor which recognizes and targets HIV-1 capsid protein p24 for autophagic destruction (PubMed:25127057). {ECO:0000269|PubMed:12878161, ECO:0000269|PubMed:17156811, ECO:0000269|PubMed:18312418, ECO:0000269|PubMed:21035162, ECO:0000269|PubMed:21512573, ECO:0000269|PubMed:21632761, ECO:0000269|PubMed:22291694, ECO:0000269|PubMed:25127057}.
Q9H2T7 RANBP17 S296 ochoa Ran-binding protein 17 May function as a nuclear transport receptor. {ECO:0000250}.
Q9H467 CUEDC2 S110 ochoa|psp CUE domain-containing protein 2 Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism. {ECO:0000269|PubMed:17347654, ECO:0000269|PubMed:21572428}.
Q9H4G4 GLIPR2 S55 ochoa Golgi-associated plant pathogenesis-related protein 1 (GAPR-1) (Golgi-associated PR-1 protein) (Glioma pathogenesis-related protein 2) (GliPR 2) None
Q9H6Z4 RANBP3 S101 ochoa Ran-binding protein 3 (RanBP3) Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export. {ECO:0000269|PubMed:11425870, ECO:0000269|PubMed:11571268, ECO:0000269|PubMed:11932251, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:9637251}.
Q9H773 DCTPP1 S26 ochoa dCTP pyrophosphatase 1 (EC 3.6.1.12) (Deoxycytidine-triphosphatase 1) (dCTPase 1) (RS21C6) (XTP3-transactivated gene A protein) Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism. {ECO:0000269|PubMed:24467396}.
Q9H7Z6 KAT8 S348 ochoa Histone acetyltransferase KAT8 (EC 2.3.1.48) (Lysine acetyltransferase 8) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1) (MYST-1) (Males-absent on the first protein homolog) (hMOF) (Protein acetyltransferase KAT8) (EC 2.3.1.-) (Protein propionyltransferase KAT8) (EC 2.3.1.-) Histone acetyltransferase that catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) or 'Lys-16' (H4K16ac), depending on the context (PubMed:12397079, PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:21217699, PubMed:22020126, PubMed:22547026, PubMed:31794431, PubMed:33837287). Catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:12397079, PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22020126, PubMed:22547026, PubMed:33657400, PubMed:33837287). H4K16ac constitutes the only acetylation mark intergenerationally transmitted and regulates key biological processes, such as oogenesis, embryonic stem cell pluripotency, hematopoiesis or glucose metabolism (By similarity). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). As part of the NSL histone acetyltransferase complex, catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:22547026, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria: KAT8 associates with mitochondrial DNA and controls expression of respiratory genes in an acetyltransferase-dependent mechanism (PubMed:27768893). Also functions as an acetyltransferase for non-histone targets, such as ALKBH5, COX17, IRF3, KDM1A/LSD1, LMNA, PAX7 or TP53/p53 (PubMed:17189187, PubMed:19854137, PubMed:37369679). Acts as an inhibitor of antiviral immunity by acetylating IRF3, preventing IRF3 recruitment to promoters (By similarity). Acts as a regulator of asymmetric division in muscle stem cells by mediating acetylation of PAX7 (By similarity). As part of the NSL complex, acetylates TP53/p53 at 'Lys-120' (PubMed:17189187, PubMed:19854137). Acts as a regulator of epithelial-to-mesenchymal transition as part of the NSL complex by mediating acetylation of KDM1A/LSD1 (PubMed:27292636). The NSL complex is required for nuclear architecture maintenance by mediating acetylation of LMNA (By similarity). Promotes mitochondrial integrity by catalyzing acetylation of COX17 (By similarity). In addition to protein acetyltransferase activity, able to mediate protein propionylation (PubMed:29321206). {ECO:0000250|UniProtKB:Q9D1P2, ECO:0000269|PubMed:12397079, ECO:0000269|PubMed:16227571, ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:17189187, ECO:0000269|PubMed:19854137, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:21217699, ECO:0000269|PubMed:22020126, ECO:0000269|PubMed:22547026, ECO:0000269|PubMed:27292636, ECO:0000269|PubMed:27768893, ECO:0000269|PubMed:29321206, ECO:0000269|PubMed:31794431, ECO:0000269|PubMed:33657400, ECO:0000269|PubMed:33837287, ECO:0000269|PubMed:37369679}.
Q9HAW4 CLSPN S34 psp Claspin (hClaspin) Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation (PubMed:12766152, PubMed:15190204, PubMed:15707391, PubMed:16123041). Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins (PubMed:12766152, PubMed:15096610, PubMed:15707391, PubMed:16123041). Also required to maintain normal rates of replication fork progression during unperturbed DNA replication. Binds directly to DNA, with particular affinity for branched or forked molecules and interacts with multiple protein components of the replisome such as the MCM2-7 complex and TIMELESS (PubMed:15226314, PubMed:34694004, PubMed:35585232). Important for initiation of DNA replication, recruits kinase CDC7 to phosphorylate MCM2-7 components (PubMed:27401717). {ECO:0000269|PubMed:12766152, ECO:0000269|PubMed:15096610, ECO:0000269|PubMed:15190204, ECO:0000269|PubMed:15226314, ECO:0000269|PubMed:15707391, ECO:0000269|PubMed:16123041, ECO:0000269|PubMed:27401717, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:35585232}.
Q9HCE0 EPG5 S1393 ochoa Ectopic P granules protein 5 homolog Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391). {ECO:0000269|PubMed:20550938, ECO:0000269|PubMed:23222957, ECO:0000269|PubMed:29130391}.
Q9HCG7 GBA2 S47 ochoa Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Bile acid beta-glucosidase GBA2) (Bile acid glucosyl transferase GBA2) (Cholesterol glucosyltransferase GBA2) (EC 2.4.1.-) (Cholesteryl-beta-glucosidase GBA2) (EC 3.2.1.-) (Glucosylceramidase 2) (Non-lysosomal cholesterol glycosyltransferase) (Non-lysosomal galactosylceramidase) (EC 3.2.1.46) (Non-lysosomal glycosylceramidase) Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, PubMed:32144204). GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties (PubMed:32144204). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids (PubMed:11489889, PubMed:17080196, PubMed:9111029). Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:17080196, PubMed:9111029). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204). {ECO:0000250|UniProtKB:Q69ZF3, ECO:0000269|PubMed:11489889, ECO:0000269|PubMed:17080196, ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:30308956, ECO:0000269|PubMed:32144204, ECO:0000269|PubMed:9111029, ECO:0000305|PubMed:32144204}.
Q9HCI7 MSL2 S211 ochoa E3 ubiquitin-protein ligase MSL2 (EC 2.3.2.27) (Male-specific lethal 2-like 1) (MSL2-like 1) (Male-specific lethal-2 homolog) (MSL-2) (Male-specific lethal-2 homolog 1) (RING finger protein 184) Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16543150, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). MSL2 plays a key role in gene dosage by ensuring biallelic expression of a subset of dosage-sensitive genes, including many haploinsufficient genes (By similarity). Acts by promoting promoter-enhancer contacts, thereby preventing DNA methylation of one allele and creating a methylation-free environment for methylation-sensitive transcription factors such as SP1, KANSL1 and KANSL3 (By similarity). Also acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A (PubMed:21726816, PubMed:30930284). This activity is greatly enhanced by heterodimerization with MSL1 (PubMed:21726816, PubMed:30930284). H2B ubiquitination in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1 (PubMed:21726816). Also involved in the DNA damage response by mediating ubiquitination of TP53/p53 and TP53BP1 (PubMed:19033443, PubMed:23874665). {ECO:0000250|UniProtKB:Q69ZF8, ECO:0000250|UniProtKB:Q9D1P2, ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:19033443, ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:23874665, ECO:0000269|PubMed:30930284, ECO:0000269|PubMed:33837287}.
Q9HCM7 FBRSL1 S937 ochoa Fibrosin-1-like protein (AUTS2-like protein) (HBV X-transactivated gene 9 protein) (HBV XAg-transactivated protein 9) None
Q9NPG3 UBN1 S323 ochoa Ubinuclein-1 (HIRA-binding protein) (Protein VT4) (Ubiquitously expressed nuclear protein) Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication-independent chromatin assembly. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:19029251}.
Q9NQE9 HINT3 S38 ochoa Adenosine 5'-monophosphoramidase HINT3 (EC 3.9.1.-) (Histidine triad nucleotide-binding protein 3) (HINT-3) Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:17870088). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase (PubMed:17870088). Hydrolyzes 3-indolepropionic acyl-adenylate and fluorogenic purine nucleoside tryptamine phosphoramidates in vitro (PubMed:17870088). {ECO:0000269|PubMed:17870088}.
Q9NRE2 TSHZ2 S980 ochoa Teashirt homolog 2 (Ovarian cancer-related protein 10-2) (OVC10-2) (Zinc finger protein 218) Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}.
Q9NRL2 BAZ1A S1413 ochoa Bromodomain adjacent to zinc finger domain protein 1A (ATP-dependent chromatin-remodeling protein) (ATP-utilizing chromatin assembly and remodeling factor 1) (hACF1) (CHRAC subunit ACF1) (Williams syndrome transcription factor-related chromatin-remodeling factor 180) (WCRF180) (hWALp1) Regulatory subunit of the ATP-dependent ACF-1 and ACF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and slide edge- and center-positioned histone octamers away from their original location on the DNA template to facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:17099699, PubMed:28801535). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template in an ATP-dependent manner (PubMed:14759371, PubMed:17099699, PubMed:28801535). The ACF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the ACF-5 ISWI chromatin remodeling complex (PubMed:28801535). Has a role in sensing the length of DNA which flank nucleosomes, which modulates the nucleosome spacing activity of the ACF-5 ISWI chromatin remodeling complex (PubMed:17099699). Involved in DNA replication and together with SMARCA5/SNF2H is required for replication of pericentric heterochromatin in S-phase (PubMed:12434153). May have a role in nuclear receptor-mediated transcription repression (PubMed:17519354). {ECO:0000269|PubMed:12434153, ECO:0000269|PubMed:14759371, ECO:0000269|PubMed:17099699, ECO:0000269|PubMed:17519354, ECO:0000269|PubMed:28801535}.
Q9NS56 TOPORS S736 ochoa E3 ubiquitin-protein ligase Topors (EC 2.3.2.27) (RING-type E3 ubiquitin transferase Topors) (SUMO1-protein E3 ligase Topors) (Topoisomerase I-binding RING finger protein) (Topoisomerase I-binding arginine/serine-rich protein) (Tumor suppressor p53-binding protein 3) (p53-binding protein 3) (p53BP3) Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation. {ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15735665, ECO:0000269|PubMed:16122737, ECO:0000269|PubMed:17803295, ECO:0000269|PubMed:18077445, ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:20188669}.
Q9NSD4 ZNF275 S76 ochoa Zinc finger protein 275 May be involved in transcriptional regulation.
Q9NW13 RBM28 S397 ochoa RNA-binding protein 28 (RNA-binding motif protein 28) Nucleolar component of the spliceosomal ribonucleoprotein complexes. {ECO:0000269|PubMed:17081119}.
Q9NWA0 MED9 S110 ochoa Mediator of RNA polymerase II transcription subunit 9 (Mediator complex subunit 9) Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
Q9NWH9 SLTM S289 ochoa SAFB-like transcription modulator (Modulator of estrogen-induced transcription) When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis. {ECO:0000250}.
Q9NWS9 ZNF446 S188 ochoa Zinc finger protein 446 (Zinc finger protein with KRAB and SCAN domains 20) May be involved in transcriptional regulation.
Q9NY59 SMPD3 S238 ochoa Sphingomyelin phosphodiesterase 3 (EC 3.1.4.12) (Neutral sphingomyelinase 2) (nSMase-2) (nSMase2) (Neutral sphingomyelinase II) Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization (PubMed:10823942, PubMed:14741383, PubMed:15051724). Binds to anionic phospholipids (APLs) such as phosphatidylserine (PS) and phosphatidic acid (PA) that modulate enzymatic activity and subcellular location. May be involved in IL-1-beta-induced JNK activation in hepatocytes (By similarity). May act as a mediator in transcriptional regulation of NOS2/iNOS via the NF-kappa-B activation under inflammatory conditions (By similarity). {ECO:0000250|UniProtKB:O35049, ECO:0000250|UniProtKB:Q9JJY3, ECO:0000269|PubMed:10823942, ECO:0000269|PubMed:14741383, ECO:0000269|PubMed:15051724}.
Q9NYF8 BCLAF1 S648 ochoa Bcl-2-associated transcription factor 1 (Btf) (BCLAF1 and THRAP3 family member 1) Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269|PubMed:18794151}.
Q9NYK6 EURL S205 ochoa Protein EURL homolog Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway. {ECO:0000250|UniProtKB:Q9D7G4}.
Q9NZJ0 DTL S656 ochoa Denticleless protein homolog (DDB1- and CUL4-associated factor 2) (Lethal(2) denticleless protein homolog) (Retinoic acid-regulated nuclear matrix-associated protein) Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906, PubMed:16949367, PubMed:16964240, PubMed:17085480, PubMed:18703516, PubMed:18794347, PubMed:18794348, PubMed:19332548, PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (PubMed:16861906, PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (PubMed:18794348, PubMed:19332548). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration (PubMed:23478445). Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the 'Lys-164' monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). {ECO:0000269|PubMed:16861906, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240, ECO:0000269|PubMed:17085480, ECO:0000269|PubMed:18703516, ECO:0000269|PubMed:18794347, ECO:0000269|PubMed:18794348, ECO:0000269|PubMed:19332548, ECO:0000269|PubMed:20129063, ECO:0000269|PubMed:23478441, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:23677613, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:27906959}.
Q9P035 HACD3 S138 ochoa Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 3) (HACD3) (Butyrate-induced protein 1) (B-ind1) (hB-ind1) (Protein-tyrosine phosphatase-like A domain-containing protein 1) Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May be involved in Rac1-signaling pathways leading to the modulation of gene expression. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). {ECO:0000269|PubMed:10747961, ECO:0000269|PubMed:18554506, ECO:0000269|PubMed:25687571}.
Q9P1Y6 PHRF1 S1229 ochoa PHD and RING finger domain-containing protein 1 None
Q9P260 RELCH S244 ochoa RAB11-binding protein RELCH (LisH domain and HEAT repeat-containing protein KIAA1468) (RAB11 binding and LisH domain, coiled-coil and HEAT repeat-containing) (RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats) Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919). {ECO:0000269|PubMed:29514919}.
Q9P2N2 ARHGAP28 S258 ochoa Rho GTPase-activating protein 28 (Rho-type GTPase-activating protein 28) GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.
Q9UDY2 TJP2 S966 ochoa Tight junction protein 2 (Tight junction protein ZO-2) (Zona occludens protein 2) (Zonula occludens protein 2) Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity). {ECO:0000250|UniProtKB:Q9Z0U1}.
Q9UF56 FBXL17 S303 ochoa F-box/LRR-repeat protein 17 (F-box and leucine-rich repeat protein 17) (F-box only protein 13) Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteasome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity). {ECO:0000250|UniProtKB:B1H1X1, ECO:0000250|UniProtKB:Q9QZN1, ECO:0000269|PubMed:24035498, ECO:0000269|PubMed:27234298, ECO:0000269|PubMed:30190310}.
Q9UFC0 LRWD1 S212 ochoa Leucine-rich repeat and WD repeat-containing protein 1 (Centromere protein 33) (CENP-33) (Origin recognition complex-associated protein) (ORC-associated protein) (ORCA) Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability. {ECO:0000269|PubMed:20850016, ECO:0000269|PubMed:20932478, ECO:0000269|PubMed:21029866, ECO:0000269|PubMed:22427655, ECO:0000269|PubMed:22645314}.
Q9UGN5 PARP2 S353 ochoa Poly [ADP-ribose] polymerase 2 (PARP-2) (hPARP-2) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 2) (ARTD2) (DNA ADP-ribosyltransferase PARP2) (EC 2.4.2.-) (NAD(+) ADP-ribosyltransferase 2) (ADPRT-2) (Poly[ADP-ribose] synthase 2) (pADPRT-2) (Protein poly-ADP-ribosyltransferase PARP2) (EC 2.4.2.-) Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair (PubMed:10364231, PubMed:25043379, PubMed:27471034, PubMed:30104678, PubMed:32028527, PubMed:32939087, PubMed:34108479, PubMed:34486521, PubMed:34874266). Mediates glutamate, aspartate or serine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units (PubMed:25043379, PubMed:30104678, PubMed:30321391). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:32939087). Mediates glutamate and aspartate ADP-ribosylation of target proteins in absence of HPF1 (PubMed:25043379). Following interaction with HPF1, catalyzes serine ADP-ribosylation of target proteins; HPF1 conferring serine specificity by completing the PARP2 active site (PubMed:28190768, PubMed:32028527, PubMed:34108479, PubMed:34486521, PubMed:34874266). PARP2 initiates the repair of double-strand DNA breaks: recognizes and binds DNA breaks within chromatin and recruits HPF1, licensing serine ADP-ribosylation of target proteins, such as histones, thereby promoting decompaction of chromatin and the recruitment of repair factors leading to the reparation of DNA strand breaks (PubMed:10364231, PubMed:32939087, PubMed:34108479). HPF1 initiates serine ADP-ribosylation but restricts the polymerase activity of PARP2 in order to limit the length of poly-ADP-ribose chains (PubMed:34732825, PubMed:34795260). Specifically mediates formation of branched poly-ADP-ribosylation (PubMed:30104678). Branched poly-ADP-ribose chains are specifically recognized by some factors, such as APLF (PubMed:30104678). In addition to proteins, also able to ADP-ribosylate DNA: preferentially acts on 5'-terminal phosphates at DNA strand breaks termini in nicked duplex (PubMed:27471034, PubMed:29361132). {ECO:0000269|PubMed:10364231, ECO:0000269|PubMed:25043379, ECO:0000269|PubMed:27471034, ECO:0000269|PubMed:28190768, ECO:0000269|PubMed:29361132, ECO:0000269|PubMed:30104678, ECO:0000269|PubMed:30321391, ECO:0000269|PubMed:32028527, ECO:0000269|PubMed:32939087, ECO:0000269|PubMed:34108479, ECO:0000269|PubMed:34486521, ECO:0000269|PubMed:34732825, ECO:0000269|PubMed:34795260, ECO:0000269|PubMed:34874266}.
Q9UHI5 SLC7A8 S24 ochoa Large neutral amino acids transporter small subunit 2 (L-type amino acid transporter 2) (hLAT2) (Solute carrier family 7 member 8) Associates with SLC3A2 to form a functional heterodimeric complex that translocates small and large neutral amino acids with broad specificity and a stoichiometry of 1:1. Functions as amino acid antiporter mediating the influx of extracellular essential amino acids mainly in exchange with the efflux of highly concentrated intracellular amino acids (PubMed:10391915, PubMed:11311135, PubMed:11847106, PubMed:12716892, PubMed:15081149, PubMed:15918515, PubMed:29355479, PubMed:33298890, PubMed:34848541). Has relatively symmetrical selectivities but strongly asymmetrical substrate affinities at both the intracellular and extracellular sides of the transporter (PubMed:11847106). This asymmetry allows SLC7A8 to regulate intracellular amino acid pools (mM concentrations) by exchange with external amino acids (uM concentration range), equilibrating the relative concentrations of different amino acids across the plasma membrane instead of mediating their net uptake (PubMed:10391915, PubMed:11847106). May play an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney (PubMed:12716892). Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane (PubMed:15769744). Imports the thyroid hormone diiodothyronine (T2) and to a smaller extent triiodothyronine (T3) but not rT 3 or thyroxine (T4) (By similarity). Mediates the uptake of L-DOPA (By similarity). May participate in auditory function (By similarity). {ECO:0000250|UniProtKB:Q9QXW9, ECO:0000250|UniProtKB:Q9WVR6, ECO:0000269|PubMed:10391915, ECO:0000269|PubMed:11311135, ECO:0000269|PubMed:11847106, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12716892, ECO:0000269|PubMed:15081149, ECO:0000269|PubMed:15769744, ECO:0000269|PubMed:15918515, ECO:0000269|PubMed:29355479, ECO:0000269|PubMed:33298890, ECO:0000269|PubMed:34848541}.
Q9UHQ1 NARF S216 ochoa Nuclear prelamin A recognition factor (Iron-only hydrogenase-like protein 2) (IOP2) None
Q9UJM8 HAO1 S194 ochoa 2-Hydroxyacid oxidase 1 (HAOX1) (EC 1.1.3.15) (Glycolate oxidase) (GO) (GOX) (Glyoxylate oxidase) (EC 1.2.3.5) Broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate (PubMed:10777549, PubMed:10978532, PubMed:17669354, PubMed:18215067). The glyoxylate produced by the oxidation of glycolate can then be utilized by alanine-glyoxylate aminotransferase for the peroxisomal synthesis of glycine; this pathway appears to be an important step for the detoxification of glyoxylate which, if allowed to accumulate, may be metabolized to oxalate with formation of kidney stones (PubMed:10978532, PubMed:17669354). Can also catalyze the oxidation of glyoxylate, and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, albeit with much lower catalytic efficiency (PubMed:10777549, PubMed:17669354, PubMed:18215067). Active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2 (PubMed:10777549, PubMed:10978532, PubMed:17669354, PubMed:18215067). Is not active on L-lactate and 2-hydroxybutanoate (PubMed:10777549). {ECO:0000269|PubMed:10777549, ECO:0000269|PubMed:10978532, ECO:0000269|PubMed:17669354, ECO:0000269|PubMed:18215067, ECO:0000303|PubMed:10978532, ECO:0000303|PubMed:17669354}.
Q9UKJ3 GPATCH8 S1081 ochoa G patch domain-containing protein 8 None
Q9ULD2 MTUS1 S663 ochoa Microtubule-associated tumor suppressor 1 (AT2 receptor-binding protein) (Angiotensin-II type 2 receptor-interacting protein) (Mitochondrial tumor suppressor 1) Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth. {ECO:0000269|PubMed:12692079, ECO:0000269|PubMed:19794912}.
Q9ULD4 BRPF3 S740 ochoa Bromodomain and PHD finger-containing protein 3 Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:26620551, PubMed:26677226). Plays a role in DNA replication initiation by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac), thereby facilitating the activation of replication origins (PubMed:26620551). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:26620551, ECO:0000269|PubMed:26677226}.
Q9ULH0 KIDINS220 S1555 ochoa Kinase D-interacting substrate of 220 kDa (Ankyrin repeat-rich membrane-spanning protein) Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway. {ECO:0000250, ECO:0000269|PubMed:18089783}.
Q9ULK2 ATXN7L1 S38 ochoa Ataxin-7-like protein 1 (Ataxin-7-like protein 4) None
Q9ULL1 PLEKHG1 S445 ochoa Pleckstrin homology domain-containing family G member 1 None
Q9ULU4 ZMYND8 S668 ochoa MYND-type zinc finger-containing chromatin reader ZMYND8 (Cutaneous T-cell lymphoma-associated antigen se14-3) (CTCL-associated antigen se14-3) (Protein kinase C-binding protein 1) (Rack7) (Transcription coregulator ZMYND8) (Zinc finger MYND domain-containing protein 8) Chromatin reader that recognizes dual histone modifications such as histone H3.1 dimethylated at 'Lys-36' and histone H4 acetylated at 'Lys-16' (H3.1K36me2-H4K16ac) and histone H3 methylated at 'Lys-4' and histone H4 acetylated at 'Lys-14' (H3K4me1-H3K14ac) (PubMed:26655721, PubMed:27477906, PubMed:31965980, PubMed:36064715). May act as a transcriptional corepressor for KDM5D by recognizing the dual histone signature H3K4me1-H3K14ac (PubMed:27477906). May also act as a transcriptional corepressor for KDM5C and EZH2 (PubMed:33323928). Recognizes acetylated histone H4 and recruits the NuRD chromatin remodeling complex to damaged chromatin for transcriptional repression and double-strand break repair by homologous recombination (PubMed:25593309, PubMed:27732854, PubMed:30134174). Also activates transcription elongation by RNA polymerase II through recruiting the P-TEFb complex to target promoters (PubMed:26655721, PubMed:30134174). Localizes to H3.1K36me2-H4K16ac marks at all-trans-retinoic acid (ATRA)-responsive genes and positively regulates their expression (PubMed:26655721). Promotes neuronal differentiation by associating with regulatory regions within the MAPT gene, to enhance transcription of a protein-coding MAPT isoform and suppress the non-coding MAPT213 isoform (PubMed:30134174, PubMed:35916866, PubMed:36064715). Suppresses breast cancer, and prostate cancer cell invasion and metastasis (PubMed:27477906, PubMed:31965980, PubMed:33323928). {ECO:0000269|PubMed:25593309, ECO:0000269|PubMed:26655721, ECO:0000269|PubMed:27477906, ECO:0000269|PubMed:27732854, ECO:0000269|PubMed:30134174, ECO:0000269|PubMed:31965980, ECO:0000269|PubMed:33323928, ECO:0000269|PubMed:35916866, ECO:0000269|PubMed:36064715}.
Q9UNE7 STUB1 S19 ochoa E3 ubiquitin-protein ligase CHIP (EC 2.3.2.27) (Antigen NY-CO-7) (CLL-associated antigen KW-8) (Carboxy terminus of Hsp70-interacting protein) (RING-type E3 ubiquitin transferase CHIP) (STIP1 homology and U box-containing protein 1) E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462, PubMed:26265139). Plays a role in the maintenance of mitochondrial morphology and promotes mitophagic removal of dysfunctional mitochondria; thereby acts as a protector against apoptosis in response to cellular stress (By similarity). Negatively regulates vascular smooth muscle contraction, via degradation of the transcriptional activator MYOCD and subsequent loss of transcription of genes involved in vascular smooth muscle contraction (By similarity). Promotes survival and proliferation of cardiac smooth muscle cells via ubiquitination and degradation of FOXO1, resulting in subsequent repression of FOXO1-mediated transcription of pro-apoptotic genes (PubMed:19483080). Ubiquitinates ICER-type isoforms of CREM and targets them for proteasomal degradation, thereby acts as a positive effector of MAPK/ERK-mediated inhibition of apoptosis in cardiomyocytes (PubMed:20724525). Inhibits lipopolysaccharide-induced apoptosis and hypertrophy in cardiomyocytes, via ubiquitination and subsequent proteasomal degradation of NFATC3 (PubMed:30980393). Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462). Ubiquitinates NOS1 in concert with Hsp70 and Hsp40 (PubMed:15466472). Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90 (PubMed:10330192, PubMed:11146632, PubMed:15466472). Ubiquitinates CHRNA3 targeting it for endoplasmic reticulum-associated degradation in cortical neurons, as part of the STUB1-VCP-UBXN2A complex (PubMed:26265139). Ubiquitinates and promotes ESR1 proteasomal degradation in response to age-related circulating estradiol (17-beta-estradiol/E2) decline, thereby promotes neuronal apoptosis in response to ischemic reperfusion injury (By similarity). Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation (PubMed:11557750, PubMed:23990462). Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome (PubMed:19713937). Mediates polyubiquitination of CYP3A4 (PubMed:19103148). Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation (PubMed:19567782). Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Catalyzes monoubiquitination of SIRT6, preventing its degradation by the proteasome (PubMed:24043303). Likely mediates polyubiquitination and down-regulates plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity (PubMed:28813410). Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385). Plays a role in the degradation of TP53 (PubMed:26634371). Mediates ubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation (PubMed:29883609). May regulate myosin assembly in striated muscles together with UBE4B and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). Ubiquitinates PPARG in macrophages playing a role in M2 macrophages polarization and angiogenesis (By similarity). {ECO:0000250|UniProtKB:A6HD62, ECO:0000250|UniProtKB:Q9WUD1, ECO:0000269|PubMed:10330192, ECO:0000269|PubMed:11146632, ECO:0000269|PubMed:11557750, ECO:0000269|PubMed:15466472, ECO:0000269|PubMed:17369820, ECO:0000269|PubMed:19103148, ECO:0000269|PubMed:19483080, ECO:0000269|PubMed:19567782, ECO:0000269|PubMed:19713937, ECO:0000269|PubMed:20724525, ECO:0000269|PubMed:23973223, ECO:0000269|PubMed:23990462, ECO:0000269|PubMed:24043303, ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:26265139, ECO:0000269|PubMed:26634371, ECO:0000269|PubMed:27708256, ECO:0000269|PubMed:28813410, ECO:0000269|PubMed:29883609, ECO:0000269|PubMed:30980393}.
Q9UPN3 MACF1 S3914 ochoa Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha) [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). {ECO:0000250|UniProtKB:Q9QXZ0, ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:27693509}.
Q9UPN9 TRIM33 S809 ochoa E3 ubiquitin-protein ligase TRIM33 (EC 2.3.2.27) (Ectodermin homolog) (RET-fused gene 7 protein) (Protein Rfg7) (RING-type E3 ubiquitin transferase TRIM33) (Transcription intermediary factor 1-gamma) (TIF1-gamma) (Tripartite motif-containing protein 33) Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade). {ECO:0000250, ECO:0000269|PubMed:10022127, ECO:0000269|PubMed:15820681, ECO:0000269|PubMed:16751102, ECO:0000269|PubMed:19135894}.
Q9UPQ3 AGAP1 S101 ochoa Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (AGAP-1) (Centaurin-gamma-2) (Cnt-g2) (GTP-binding and GTPase-activating protein 1) (GGAP1) GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. {ECO:0000269|PubMed:12640130}.
Q9UPS6 SETD1B S1283 ochoa Histone-lysine N-methyltransferase SETD1B (EC 2.1.1.364) (Lysine N-methyltransferase 2G) (SET domain-containing protein 1B) (hSET1B) Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity). {ECO:0000250|UniProtKB:Q8CFT2, ECO:0000269|PubMed:17355966, ECO:0000269|PubMed:25561738}.
Q9UQ35 SRRM2 S1271 ochoa Serine/arginine repetitive matrix protein 2 (300 kDa nuclear matrix antigen) (Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa) (SR-related nuclear matrix protein of 300 kDa) (Ser/Arg-related nuclear matrix protein of 300 kDa) (Splicing coactivator subunit SRm300) (Tax-responsive enhancer element-binding protein 803) (TaxREB803) Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:19854871, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30705154, ECO:0000269|PubMed:9531537, ECO:0000305|PubMed:33509932}.
Q9UQC2 GAB2 S422 ochoa GRB2-associated-binding protein 2 (GRB2-associated binder 2) (Growth factor receptor bound protein 2-associated protein 2) (pp100) Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis. {ECO:0000269|PubMed:15750601, ECO:0000269|PubMed:19172738}.
Q9Y2F5 ICE1 S1854 ochoa Little elongation complex subunit 1 (Interactor of little elongator complex ELL subunit 1) Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780). {ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23932780}.
Q9Y2G4 ANKRD6 S328 ochoa Ankyrin repeat domain-containing protein 6 (Diversin) Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals. {ECO:0000250}.
Q9Y2H5 PLEKHA6 S940 ochoa Pleckstrin homology domain-containing family A member 6 (PH domain-containing family A member 6) (Phosphoinositol 3-phosphate-binding protein 3) (PEPP-3) None
Q9Y2L1 DIS3 S634 ochoa Exosome complex exonuclease RRP44 (EC 3.1.13.-) (EC 3.1.26.-) (Protein DIS3 homolog) (Ribosomal RNA-processing protein 44) Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. DIS3 has both 3'-5' exonuclease and endonuclease activities. {ECO:0000269|PubMed:19056938, ECO:0000269|PubMed:20531386}.
Q9Y490 TLN1 S2162 ochoa Talin-1 High molecular weight cytoskeletal protein concentrated at regions of cell-matrix and cell-cell contacts. Involved in connections of major cytoskeletal structures to the plasma membrane. With KANK1 co-organize the assembly of cortical microtubule stabilizing complexes (CMSCs) positioned to control microtubule-actin crosstalk at focal adhesions (FAs) rims. {ECO:0000250|UniProtKB:P26039}.
Q9Y678 COPG1 S633 ochoa Coatomer subunit gamma-1 (Gamma-1-coat protein) (Gamma-1-COP) The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity). {ECO:0000250, ECO:0000269|PubMed:20674546}.
Q9Y6Q9 NCOA3 S214 ochoa Nuclear receptor coactivator 3 (NCoA-3) (EC 2.3.1.48) (ACTR) (Amplified in breast cancer 1 protein) (AIB-1) (CBP-interacting protein) (pCIP) (Class E basic helix-loop-helix protein 42) (bHLHe42) (Receptor-associated coactivator 3) (RAC-3) (Steroid receptor coactivator protein 3) (SRC-3) (Thyroid hormone receptor activator molecule 1) (TRAM-1) Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit.
O00115 DNASE2 S70 Sugiyama Deoxyribonuclease-2-alpha (EC 3.1.22.1) (Acid DNase) (Deoxyribonuclease II alpha) (DNase II alpha) (Lysosomal DNase II) (R31240_2) Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the clearance of nucleic acids generated through apoptosis, hence preventing autoinflammation (PubMed:29259162, PubMed:31775019). Necessary for proper fetal development and for definitive erythropoiesis in fetal liver and bone marrow, where it degrades nuclear DNA expelled from erythroid precursor cells (PubMed:29259162). {ECO:0000269|PubMed:29259162, ECO:0000269|PubMed:31775019}.
P15311 EZR Y85 Sugiyama Ezrin (Cytovillin) (Villin-2) (p81) Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. {ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268, ECO:0000269|PubMed:19111582}.
P26038 MSN Y85 Sugiyama Moesin (Membrane-organizing extension spike protein) Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton (PubMed:10212266). Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement (PubMed:10212266). These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction (PubMed:12387735, PubMed:15039356). The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs (PubMed:9298994, PubMed:9616160). Modulates phagolysosomal biogenesis in macrophages (By similarity). Also participates in immunologic synapse formation (PubMed:27405666). {ECO:0000250|UniProtKB:P26041, ECO:0000269|PubMed:10212266, ECO:0000269|PubMed:12387735, ECO:0000269|PubMed:15039356, ECO:0000269|PubMed:27405666, ECO:0000269|PubMed:9298994, ECO:0000269|PubMed:9616160}.
P35813 PPM1A S216 Sugiyama Protein phosphatase 1A (EC 3.1.3.16) (Protein phosphatase 2C isoform alpha) (PP2C-alpha) (Protein phosphatase IA) Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. {ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:18930133}.
Q6EMK4 VASN S322 Sugiyama Vasorin (Protein slit-like 2) May act as an inhibitor of TGF-beta signaling. {ECO:0000269|PubMed:15247411}.
P00533 EGFR S511 Sugiyama Epidermal growth factor receptor (EC 2.7.10.1) (Proto-oncogene c-ErbB-1) (Receptor tyrosine-protein kinase erbB-1) Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:12297049, PubMed:15611079, PubMed:17909029, PubMed:20837704, PubMed:27153536, PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity). Plays a role in mammalian pain signaling (long-lasting hypersensitivity) (By similarity). {ECO:0000250|UniProtKB:Q01279, ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11116146, ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:11602604, ECO:0000269|PubMed:12297049, ECO:0000269|PubMed:12297050, ECO:0000269|PubMed:12620237, ECO:0000269|PubMed:12873986, ECO:0000269|PubMed:15374980, ECO:0000269|PubMed:15590694, ECO:0000269|PubMed:15611079, ECO:0000269|PubMed:17115032, ECO:0000269|PubMed:17909029, ECO:0000269|PubMed:19560417, ECO:0000269|PubMed:20462955, ECO:0000269|PubMed:20837704, ECO:0000269|PubMed:21258366, ECO:0000269|PubMed:27153536, ECO:0000269|PubMed:2790960, ECO:0000269|PubMed:35538033, ECO:0000269|PubMed:7679104, ECO:0000269|PubMed:8144591, ECO:0000269|PubMed:9419975}.; FUNCTION: Isoform 2 may act as an antagonist of EGF action.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins. {ECO:0000269|PubMed:21516087}.
Q8TDZ2 MICAL1 S447 Sugiyama [F-actin]-monooxygenase MICAL1 (EC 1.14.13.225) (EC 1.6.3.1) (Molecule interacting with CasL protein 1) (MICAL-1) (NEDD9-interacting protein with calponin homology and LIM domains) Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:29343822). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (PubMed:21864500, PubMed:26845023, PubMed:29343822). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involved in regulation of lamina-specific connectivity in the nervous system such as the development of lamina-restricted hippocampal connections. Through redox regulation of the actin cytoskeleton controls the intracellular distribution of secretory vesicles containing L1/neurofascin/NgCAM family proteins in neurons, thereby regulating their cell surface levels (By similarity). May act as Rab effector protein and play a role in vesicle trafficking. Promotes endosomal tubule extension by associating with RAB8 (RAB8A or RAB8B), RAB10 and GRAF (GRAF1/ARHGAP26 or GRAF2/ARHGAP10) on the endosomal membrane which may connect GRAFs to Rabs, thereby participating in neosynthesized Rab8-Rab10-Rab11-dependent protein export (PubMed:32344433). {ECO:0000250|UniProtKB:Q8VDP3, ECO:0000269|PubMed:18305261, ECO:0000269|PubMed:21864500, ECO:0000269|PubMed:26845023, ECO:0000269|PubMed:28230050, ECO:0000269|PubMed:29343822, ECO:0000269|PubMed:32344433, ECO:0000305|PubMed:27552051}.
Q12852 MAP3K12 S64 Sugiyama Mitogen-activated protein kinase kinase kinase 12 (EC 2.7.11.25) (Dual leucine zipper bearing kinase) (DLK) (Leucine-zipper protein kinase) (ZPK) (MAPK-upstream kinase) (MUK) (Mixed lineage kinase) Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway. {ECO:0000269|PubMed:28111074}.
Q99798 ACO2 S79 Sugiyama Aconitate hydratase, mitochondrial (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase) Catalyzes the isomerization of citrate to isocitrate via cis-aconitate. {ECO:0000250|UniProtKB:P16276}.
A4UGR9 XIRP2 S1417 Sugiyama Xin actin-binding repeat-containing protein 2 (Beta-xin) (Cardiomyopathy-associated protein 3) (Xeplin) Protects actin filaments from depolymerization (PubMed:15454575). Required for correct morphology of cell membranes and maturation of intercalated disks of cardiomyocytes via facilitating localization of XIRP1 and CDH2 to the termini of aligned mature cardiomyocytes (By similarity). Thereby required for correct postnatal heart development and growth regulation that is crucial for overall heart morphology and diastolic function (By similarity). Required for normal electrical conduction in the heart including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with the cardiac ion channel components Scn5a/Nav1.5 and Kcna5/Kv1.5 (By similarity). Required for regular actin filament spacing of the paracrystalline array in both inner and outer hair cells of the cochlea, thereby required for maintenance of stereocilia morphology (By similarity). {ECO:0000250|UniProtKB:Q4U4S6, ECO:0000269|PubMed:15454575}.
Q9NYY3 PLK2 S248 Sugiyama Serine/threonine-protein kinase PLK2 (EC 2.7.11.21) (Polo-like kinase 2) (PLK-2) (hPlk2) (Serine/threonine-protein kinase SNK) (hSNK) (Serum-inducible kinase) Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CPAP, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 and the Rap inhibitor SIPA1L1 leading to their degradation by the proteasome. Conversely, phosphorylates the Rap activator RAPGEF2 and the Ras inhibitor SYNGAP1, promoting their activity. Also regulates synaptic plasticity independently of kinase activity, via its interaction with NSF that disrupts the interaction between NSF and the GRIA2 subunit of AMPARs, leading to a rapid rundown of AMPAR-mediated current that occludes long term depression. Required for procentriole formation and centriole duplication by phosphorylating CPAP and NPM1, respectively. Its induction by p53/TP53 suggests that it may participate in the mitotic checkpoint following stress. {ECO:0000269|PubMed:15242618, ECO:0000269|PubMed:19001868, ECO:0000269|PubMed:20352051, ECO:0000269|PubMed:20531387}.
Q9UM73 ALK S1075 Sugiyama ALK tyrosine kinase receptor (EC 2.7.10.1) (Anaplastic lymphoma kinase) (CD antigen CD246) Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system (PubMed:11121404, PubMed:11387242, PubMed:16317043, PubMed:17274988, PubMed:30061385, PubMed:34646012, PubMed:34819673). Also acts as a key thinness protein involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity). Following activation by ALKAL2 ligand at the cell surface, transduces an extracellular signal into an intracellular response (PubMed:30061385, PubMed:33411331, PubMed:34646012, PubMed:34819673). In contrast, ALKAL1 is not a potent physiological ligand for ALK (PubMed:34646012). Ligand-binding to the extracellular domain induces tyrosine kinase activation, leading to activation of the mitogen-activated protein kinase (MAPK) pathway (PubMed:34819673). Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif (PubMed:15226403, PubMed:16878150). Induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1 (PubMed:15226403, PubMed:16878150). ALK activation may also be regulated by pleiotrophin (PTN) and midkine (MDK) (PubMed:11278720, PubMed:11809760, PubMed:12107166, PubMed:12122009). PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation (PubMed:11278720, PubMed:11809760, PubMed:12107166). MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction (PubMed:12122009). Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase (PubMed:15226403, PubMed:16878150). Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK (PubMed:15226403, PubMed:16878150). {ECO:0000250|UniProtKB:P97793, ECO:0000269|PubMed:11121404, ECO:0000269|PubMed:11278720, ECO:0000269|PubMed:11387242, ECO:0000269|PubMed:11809760, ECO:0000269|PubMed:12107166, ECO:0000269|PubMed:12122009, ECO:0000269|PubMed:15226403, ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:16878150, ECO:0000269|PubMed:17274988, ECO:0000269|PubMed:30061385, ECO:0000269|PubMed:33411331, ECO:0000269|PubMed:34646012, ECO:0000269|PubMed:34819673}.
A6NJZ7 RIMBP3C S1322 ochoa RIMS-binding protein 3C (RIM-BP3.C) (RIMS-binding protein 3.3) (RIM-BP3.3) Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. {ECO:0000250|UniProtKB:Q3V0F0}.
A6NNM3 RIMBP3B S1322 ochoa RIMS-binding protein 3B (RIM-BP3.B) (RIMS-binding protein 3.2) (RIM-BP3.2) Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. {ECO:0000250|UniProtKB:Q3V0F0}.
O00515 LAD1 S356 ochoa Ladinin-1 (Lad-1) (Linear IgA disease antigen) (LADA) Anchoring filament protein which is a component of the basement membrane zone. {ECO:0000250}.
O14490 DLGAP1 S397 ochoa Disks large-associated protein 1 (DAP-1) (Guanylate kinase-associated protein) (hGKAP) (PSD-95/SAP90-binding protein 1) (SAP90/PSD-95-associated protein 1) (SAPAP1) Part of the postsynaptic scaffold in neuronal cells.
O14524 NEMP1 S368 ochoa Nuclear envelope integral membrane protein 1 Together with EMD, contributes to nuclear envelope stiffness in germ cells (PubMed:32923640). Required for female fertility (By similarity). Essential for normal erythropoiesis (By similarity). Required for efficient nuclear envelope opening and enucleation during the late stages of erythroblast maturation (By similarity). {ECO:0000250|UniProtKB:Q6ZQE4, ECO:0000269|PubMed:32923640}.
O14867 BACH1 S196 ochoa Transcription regulator protein BACH1 (BTB and CNC homolog 1) (HA2303) Transcriptional regulator that acts as a repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Plays important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498). {ECO:0000250|UniProtKB:P97302, ECO:0000269|PubMed:24035498, ECO:0000269|PubMed:39504958}.
O14867 BACH1 S445 ochoa Transcription regulator protein BACH1 (BTB and CNC homolog 1) (HA2303) Transcriptional regulator that acts as a repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Plays important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498). {ECO:0000250|UniProtKB:P97302, ECO:0000269|PubMed:24035498, ECO:0000269|PubMed:39504958}.
O14983 ATP2A1 S499 ochoa Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) (SR Ca(2+)-ATPase 1) (EC 7.2.2.10) (Calcium pump 1) (Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase) Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677). {ECO:0000250|UniProtKB:P04191, ECO:0000269|PubMed:10914677}.
O15042 U2SURP S67 ochoa U2 snRNP-associated SURP motif-containing protein (140 kDa Ser/Arg-rich domain protein) (U2-associated protein SR140) None
O15061 SYNM S653 ochoa Synemin (Desmuslin) Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteromeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells. {ECO:0000269|PubMed:11353857, ECO:0000269|PubMed:16777071, ECO:0000269|PubMed:18028034}.
O15062 ZBTB5 S371 ochoa Zinc finger and BTB domain-containing protein 5 May be involved in transcriptional regulation.
O15151 MDM4 S314 psp Protein Mdm4 (Double minute 4 protein) (Mdm2-like p53-binding protein) (Protein Mdmx) (p53-binding protein Mdm4) Along with MDM2, contributes to TP53 regulation (PubMed:32300648). Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions. {ECO:0000269|PubMed:16163388, ECO:0000269|PubMed:16511572, ECO:0000269|PubMed:32300648}.
O43156 TTI1 S459 ochoa TELO2-interacting protein 1 homolog (Protein SMG10) Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. {ECO:0000269|PubMed:20427287, ECO:0000269|PubMed:20801936, ECO:0000269|PubMed:20810650, ECO:0000269|PubMed:36724785}.
O43164 PJA2 S282 ochoa E3 ubiquitin-protein ligase Praja-2 (Praja2) (EC 2.3.2.27) (RING finger protein 131) (RING-type E3 ubiquitin transferase Praja-2) Has E2-dependent E3 ubiquitin-protein ligase activity (PubMed:12036302, PubMed:21423175). Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes (PubMed:21423175). Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). Plays a role in ciliogenesis by ubiquitinating OFD1 (PubMed:33934390). {ECO:0000269|PubMed:12036302, ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:28471450, ECO:0000269|PubMed:33934390}.
O43426 SYNJ1 S1439 ochoa Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1) Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:23804563, PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity). {ECO:0000250|UniProtKB:O18964, ECO:0000250|UniProtKB:Q62910, ECO:0000269|PubMed:23804563, ECO:0000269|PubMed:27435091}.
O43639 NCK2 S176 ochoa Cytoplasmic protein NCK2 (Growth factor receptor-bound protein 4) (NCK adaptor protein 2) (Nck-2) (SH2/SH3 adaptor protein NCK-beta) Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. {ECO:0000269|PubMed:10026169, ECO:0000269|PubMed:11171109, ECO:0000269|PubMed:16835242}.
O60285 NUAK1 S481 ochoa NUAK family SNF1-like kinase 1 (EC 2.7.11.1) (AMPK-related protein kinase 5) (ARK5) (Omphalocele kinase 1) Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participate in transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316). {ECO:0000269|PubMed:12409306, ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15060171, ECO:0000269|PubMed:15273717, ECO:0000269|PubMed:19927127, ECO:0000269|PubMed:20354225, ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:25329316}.
O60563 CCNT1 S22 ochoa Cyclin-T1 (CycT1) (Cyclin-T) Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II) (PubMed:16109376, PubMed:16109377, PubMed:30134174, PubMed:35393539). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II (PubMed:29849146, PubMed:35393539). {ECO:0000269|PubMed:16109376, ECO:0000269|PubMed:16109377, ECO:0000269|PubMed:29849146, ECO:0000269|PubMed:30134174, ECO:0000269|PubMed:35393539}.; FUNCTION: (Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes. {ECO:0000269|PubMed:10329125, ECO:0000269|PubMed:10329126}.
O60566 BUB1B S720 ochoa|psp Mitotic checkpoint serine/threonine-protein kinase BUB1 beta (EC 2.7.11.1) (MAD3/BUB1-related protein kinase) (hBUBR1) (Mitotic checkpoint kinase MAD3L) (Protein SSK1) Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression. {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:19411850, ECO:0000269|PubMed:19503101}.
O60732 MAGEC1 S102 ochoa Melanoma-associated antigen C1 (Cancer/testis antigen 7.1) (CT7.1) (MAGE-C1 antigen) None
O60934 NBN S615 ochoa|psp Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1) (hNbs1) Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed:18411307, PubMed:18583988, PubMed:18678890, PubMed:19759395, PubMed:23115235, PubMed:28216226, PubMed:28867292, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases (PubMed:19759395, PubMed:28867292, PubMed:9705271). The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage (PubMed:19759395, PubMed:9705271). The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination (PubMed:19759395, PubMed:28867292, PubMed:9705271). Within the MRN complex, NBN acts as a protein-protein adapter, which specifically recognizes and binds phosphorylated proteins, promoting their recruitment to DNA damage sites (PubMed:12419185, PubMed:15616588, PubMed:18411307, PubMed:18582474, PubMed:18583988, PubMed:18678890, PubMed:19759395, PubMed:19804756, PubMed:23762398, PubMed:24534091, PubMed:27814491, PubMed:27889449, PubMed:33836577). Recruits MRE11 and RAD50 components of the MRN complex to DSBs in response to DNA damage (PubMed:12419185, PubMed:18411307, PubMed:18583988, PubMed:18678890, PubMed:24534091, PubMed:26438602). Promotes the recruitment of PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites, activating their functions (PubMed:15064416, PubMed:15616588, PubMed:15790808, PubMed:16622404, PubMed:22464731, PubMed:30952868, PubMed:35076389). Mediates the recruitment of phosphorylated RBBP8/CtIP to DSBs, leading to cooperation between the MRN complex and RBBP8/CtIP to initiate end resection (PubMed:19759395, PubMed:27814491, PubMed:27889449, PubMed:33836577). RBBP8/CtIP specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts (PubMed:27814491, PubMed:27889449, PubMed:30787182, PubMed:33836577). The MRN complex is also required for the processing of R-loops (PubMed:31537797). NBN also functions in telomere length maintenance via its interaction with TERF2: interaction with TERF2 during G1 phase preventing recruitment of DCLRE1B/Apollo to telomeres (PubMed:10888888, PubMed:28216226). NBN also promotes DNA repair choice at dysfunctional telomeres: NBN phosphorylation by CDK2 promotes non-homologous end joining repair at telomeres, while unphosphorylated NBN promotes microhomology-mediated end-joining (MMEJ) repair (PubMed:28216226). Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex (PubMed:23762398). {ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:12419185, ECO:0000269|PubMed:15064416, ECO:0000269|PubMed:15616588, ECO:0000269|PubMed:15790808, ECO:0000269|PubMed:16622404, ECO:0000269|PubMed:18411307, ECO:0000269|PubMed:18582474, ECO:0000269|PubMed:18583988, ECO:0000269|PubMed:18678890, ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:19804756, ECO:0000269|PubMed:22464731, ECO:0000269|PubMed:23115235, ECO:0000269|PubMed:23762398, ECO:0000269|PubMed:24534091, ECO:0000269|PubMed:26438602, ECO:0000269|PubMed:27814491, ECO:0000269|PubMed:27889449, ECO:0000269|PubMed:28216226, ECO:0000269|PubMed:28867292, ECO:0000269|PubMed:30787182, ECO:0000269|PubMed:30952868, ECO:0000269|PubMed:31537797, ECO:0000269|PubMed:33836577, ECO:0000269|PubMed:35076389, ECO:0000269|PubMed:9705271}.
O75312 ZPR1 S190 ochoa Zinc finger protein ZPR1 (Zinc finger protein 259) Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. It is involved in the positive regulation of cell cycle progression (PubMed:29851065). Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death. {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:17068332, ECO:0000269|PubMed:22422766, ECO:0000269|PubMed:29851065}.
O75828 CBR3 S192 ochoa Carbonyl reductase [NADPH] 3 (EC 1.1.1.184) (NADPH-dependent carbonyl reductase 3) (Quinone reductase CBR3) (EC 1.6.5.10) (Short chain dehydrogenase/reductase family 21C member 2) Catalyzes the NADPH-dependent reduction of carbonyl compounds to their corresponding alcohols (PubMed:18493841). Has low NADPH-dependent oxidoreductase activity. Acts on several orthoquinones, acts as well on non-quinone compounds, such as isatin or on the anticancer drug oracin (PubMed:15537833, PubMed:18493841, PubMed:19841672). Best substrates for CBR3 is 1,2- naphthoquinone, hence could play a role in protection against cytotoxicity of exogenous quinones (PubMed:19841672). Exerts activity toward ortho-quinones but not paraquinones. No endogenous substrate for CBR3 except isatin has been identified (PubMed:19841672). {ECO:0000269|PubMed:15537833, ECO:0000269|PubMed:18493841, ECO:0000269|PubMed:19841672}.
O95425 SVIL S319 ochoa Supervillin (Archvillin) (p205/p250) [Isoform 1]: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function (PubMed:19109420). {ECO:0000269|PubMed:12711699, ECO:0000269|PubMed:19109420}.; FUNCTION: [Isoform 2]: May be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity). {ECO:0000250|UniProtKB:O46385}.
O95714 HERC2 S1366 ochoa E3 ubiquitin-protein ligase HERC2 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 2) (HECT-type E3 ubiquitin transferase HERC2) E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Also modulates iron metabolism by regulating the basal turnover of FBXL5 (PubMed:24778179). {ECO:0000269|PubMed:20023648, ECO:0000269|PubMed:20304803, ECO:0000269|PubMed:22508508, ECO:0000269|PubMed:24778179, ECO:0000269|PubMed:26692333}.
O95714 HERC2 S3462 ochoa E3 ubiquitin-protein ligase HERC2 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 2) (HECT-type E3 ubiquitin transferase HERC2) E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Also modulates iron metabolism by regulating the basal turnover of FBXL5 (PubMed:24778179). {ECO:0000269|PubMed:20023648, ECO:0000269|PubMed:20304803, ECO:0000269|PubMed:22508508, ECO:0000269|PubMed:24778179, ECO:0000269|PubMed:26692333}.
P00325 ADH1B S165 ochoa All-trans-retinol dehydrogenase [NAD(+)] ADH1B (EC 1.1.1.105) (Alcohol dehydrogenase 1B) (Alcohol dehydrogenase subunit beta) Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyze the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387). Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal (PubMed:15369820). {ECO:0000269|PubMed:15369820, ECO:0000269|PubMed:16787387}.
P00326 ADH1C S165 ochoa Alcohol dehydrogenase 1C (EC 1.1.1.1) (Alcohol dehydrogenase subunit gamma) Alcohol dehydrogenase. Exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. {ECO:0000269|PubMed:6391957}.
P02452 COL1A1 S1247 ochoa Collagen alpha-1(I) chain (Alpha-1 type I collagen) Type I collagen is a member of group I collagen (fibrillar forming collagen).
P04899 GNAI2 S282 ochoa Guanine nucleotide-binding protein G(i) subunit alpha-2 (Adenylate cyclase-inhibiting G alpha protein) Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division. {ECO:0000269|PubMed:17635935}.; FUNCTION: [Isoform sGi2]: Regulates the cell surface density of dopamine receptors DRD2 by sequestrating them as an intracellular pool. {ECO:0000269|PubMed:17550964}.
P07327 ADH1A S165 ochoa Alcohol dehydrogenase 1A (EC 1.1.1.1) (Alcohol dehydrogenase subunit alpha) Alcohol dehydrogenase (PubMed:2738060). Oxidizes primary as well as secondary alcohols. Ethanol is a very poor substrate (PubMed:2738060). {ECO:0000269|PubMed:2738060}.
P07948 LYN S228 ochoa Tyrosine-protein kinase Lyn (EC 2.7.10.2) (Lck/Yes-related novel protein tyrosine kinase) (V-yes-1 Yamaguchi sarcoma viral related oncogene homolog) (p53Lyn) (p56Lyn) Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down-regulation and termination. Plays an important role in the regulation of B-cell differentiation, proliferation, survival and apoptosis, and is important for immune self-tolerance. Acts downstream of several immune receptors, including the B-cell receptor, CD79A, CD79B, CD5, CD19, CD22, FCER1, FCGR2, FCGR1A, TLR2 and TLR4. Plays a role in the inflammatory response to bacterial lipopolysaccharide. Mediates the responses to cytokines and growth factors in hematopoietic progenitors, platelets, erythrocytes, and in mature myeloid cells, such as dendritic cells, neutrophils and eosinophils. Acts downstream of EPOR, KIT, MPL, the chemokine receptor CXCR4, as well as the receptors for IL3, IL5 and CSF2. Plays an important role in integrin signaling. Regulates cell proliferation, survival, differentiation, migration, adhesion, degranulation, and cytokine release. Involved in the regulation of endothelial activation, neutrophil adhesion and transendothelial migration (PubMed:36932076). Down-regulates signaling pathways by phosphorylation of immunoreceptor tyrosine-based inhibitory motifs (ITIM), that then serve as binding sites for phosphatases, such as PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1, that modulate signaling by dephosphorylation of kinases and their substrates. Phosphorylates LIME1 in response to CD22 activation. Phosphorylates BTK, CBL, CD5, CD19, CD72, CD79A, CD79B, CSF2RB, DOK1, HCLS1, LILRB3/PIR-B, MS4A2/FCER1B, SYK and TEC. Promotes phosphorylation of SIRPA, PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1. Mediates phosphorylation of the BCR-ABL fusion protein. Required for rapid phosphorylation of FER in response to FCER1 activation. Mediates KIT phosphorylation. Acts as an effector of EPOR (erythropoietin receptor) in controlling KIT expression and may play a role in erythroid differentiation during the switch between proliferation and maturation. Depending on the context, activates or inhibits several signaling cascades. Regulates phosphatidylinositol 3-kinase activity and AKT1 activation. Regulates activation of the MAP kinase signaling cascade, including activation of MAP2K1/MEK1, MAPK1/ERK2, MAPK3/ERK1, MAPK8/JNK1 and MAPK9/JNK2. Mediates activation of STAT5A and/or STAT5B. Phosphorylates LPXN on 'Tyr-72'. Kinase activity facilitates TLR4-TLR6 heterodimerization and signal initiation. Phosphorylates SCIMP on 'Tyr-107'; this enhances binding of SCIMP to TLR4, promoting the phosphorylation of TLR4, and a selective cytokine response to lipopolysaccharide in macrophages (By similarity). Phosphorylates CLNK (By similarity). Phosphorylates BCAR1/CAS and NEDD9/HEF1 (PubMed:9020138). {ECO:0000250|UniProtKB:P25911, ECO:0000269|PubMed:10574931, ECO:0000269|PubMed:10748115, ECO:0000269|PubMed:10891478, ECO:0000269|PubMed:11435302, ECO:0000269|PubMed:11517336, ECO:0000269|PubMed:11825908, ECO:0000269|PubMed:14726379, ECO:0000269|PubMed:15795233, ECO:0000269|PubMed:16467205, ECO:0000269|PubMed:17640867, ECO:0000269|PubMed:17977829, ECO:0000269|PubMed:18056483, ECO:0000269|PubMed:18070987, ECO:0000269|PubMed:18235045, ECO:0000269|PubMed:18577747, ECO:0000269|PubMed:18802065, ECO:0000269|PubMed:19290919, ECO:0000269|PubMed:20037584, ECO:0000269|PubMed:36122175, ECO:0000269|PubMed:36932076, ECO:0000269|PubMed:7687428, ECO:0000269|PubMed:9020138}.
P11441 UBL4A S90 ochoa Ubiquitin-like protein 4A (Ubiquitin-like protein GDX) As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:21743475, ECO:0000269|PubMed:25535373, ECO:0000269|PubMed:28104892}.
P15822 HIVEP1 S1884 ochoa Zinc finger protein 40 (Cirhin interaction protein) (CIRIP) (Gate keeper of apoptosis-activating protein) (GAAP) (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex-binding protein 1) (MBP-1) (Positive regulatory domain II-binding factor 1) (PRDII-BF1) This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis.
P20929 NEB S2182 ochoa Nebulin This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.
P25325 MPST S225 ochoa 3-mercaptopyruvate sulfurtransferase (MST) (EC 2.8.1.2) Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions. {ECO:0000250|UniProtKB:P97532}.
P26639 TARS1 S380 ochoa Threonine--tRNA ligase 1, cytoplasmic (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS) (Threonyl-tRNA synthetase 1) Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity). {ECO:0000250|UniProtKB:Q9D0R2, ECO:0000269|PubMed:25824639, ECO:0000269|PubMed:31374204}.
P27815 PDE4A S628 ochoa 3',5'-cyclic-AMP phosphodiesterase 4A (EC 3.1.4.53) (DPDE2) (PDE46) (cAMP-specific phosphodiesterase 4A) Hydrolyzes the second messenger 3',5'-cyclic AMP (cAMP), which is a key regulator of many important physiological processes. {ECO:0000269|PubMed:11566027, ECO:0000269|PubMed:2160582}.; FUNCTION: [Isoform 1]: Efficiently hydrolyzes cAMP. {ECO:0000269|PubMed:11306681, ECO:0000269|PubMed:15738310}.; FUNCTION: [Isoform 2]: Efficiently hydrolyzes cAMP. {ECO:0000269|PubMed:15738310}.; FUNCTION: [Isoform 3]: Efficiently hydrolyzes cAMP. The phosphodiesterase activity is not affected by calcium, calmodulin or cyclic GMP (cGMP) levels. Does not hydrolyze cGMP. {ECO:0000269|PubMed:7888306}.; FUNCTION: [Isoform 4]: Efficiently hydrolyzes cAMP. {ECO:0000269|PubMed:9677330}.; FUNCTION: [Isoform 6]: Efficiently hydrolyzes cAMP. {ECO:0000269|PubMed:11306681, ECO:0000269|PubMed:15738310, ECO:0000269|PubMed:17727341}.; FUNCTION: [Isoform 7]: Efficiently hydrolyzes cAMP. {ECO:0000269|PubMed:18095939}.
P27816 MAP4 S280 ochoa Microtubule-associated protein 4 (MAP-4) Non-neuronal microtubule-associated protein. Promotes microtubule assembly. {ECO:0000269|PubMed:10791892, ECO:0000269|PubMed:34782749}.
P30566 ADSL S434 ochoa Adenylosuccinate lyase (ADSL) (ASL) (EC 4.3.2.2) (Adenylosuccinase) (ASase) Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. {ECO:0000269|PubMed:10888601}.
P31937 HIBADH S88 ochoa 3-hydroxyisobutyrate dehydrogenase, mitochondrial (HIBADH) (EC 1.1.1.31) None
P33176 KIF5B S175 psp Kinesin-1 heavy chain (Conventional kinesin heavy chain) (Ubiquitous kinesin heavy chain) (UKHC) Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). Through binding with PLEKHM2 and ARL8B, directs lysosome movement toward microtubule plus ends (Probable). Involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). {ECO:0000250|UniProtKB:Q2PQA9, ECO:0000250|UniProtKB:Q61768, ECO:0000269|PubMed:20386726, ECO:0000269|PubMed:24088571, ECO:0000305|PubMed:22172677, ECO:0000305|PubMed:24088571}.
P33981 TTK S436 ochoa|psp Dual specificity protein kinase TTK (EC 2.7.12.1) (Phosphotyrosine picked threonine-protein kinase) (PYT) Involved in mitotic spindle assembly checkpoint signaling, a process that delays anaphase until chromosomes are bioriented on the spindle, and in the repair of incorrect mitotic kinetochore-spindle microtubule attachments (PubMed:18243099, PubMed:28441529, PubMed:29162720). Phosphorylates MAD1L1 to promote the mitotic spindle assembly checkpoint (PubMed:18243099, PubMed:29162720). Phosphorylates CDCA8/Borealin leading to enhanced AURKB activity at the kinetochore (PubMed:18243099). Phosphorylates SKA3 at 'Ser-34' leading to dissociation of the SKA complex from microtubules and destabilization of microtubule-kinetochore attachments (PubMed:28441529). Phosphorylates KNL1, KNTC1 and autophosphorylates (PubMed:28441529). Phosphorylates MCRS1 which enhances recruitment of KIF2A to the minus end of spindle microtubules and promotes chromosome alignment (PubMed:30785839). {ECO:0000269|PubMed:18243099, ECO:0000269|PubMed:28441529, ECO:0000269|PubMed:29162720, ECO:0000269|PubMed:30785839}.
P35520 CBS S199 ochoa Cystathionine beta-synthase (EC 4.2.1.22) (Beta-thionase) (Serine sulfhydrase) Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). {ECO:0000250|UniProtKB:P32232, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774}.
P38398 BRCA1 S114 ochoa|psp Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1) E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.
P38398 BRCA1 S1009 ochoa Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1) E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.
P41227 NAA10 S186 ochoa N-alpha-acetyltransferase 10 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog A) (hARD1) (NatA catalytic subunit Naa10) Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19420222, PubMed:19826488, PubMed:20145209, PubMed:20154145, PubMed:25489052, PubMed:27708256, PubMed:29754825, PubMed:32042062). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acetylates HIST1H4A (PubMed:29754825). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821). {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:15496142, ECO:0000269|PubMed:19420222, ECO:0000269|PubMed:19826488, ECO:0000269|PubMed:20145209, ECO:0000269|PubMed:20154145, ECO:0000269|PubMed:25489052, ECO:0000269|PubMed:27422821, ECO:0000269|PubMed:27708256, ECO:0000269|PubMed:29754825, ECO:0000269|PubMed:32042062}.
P42696 RBM34 S28 ochoa RNA-binding protein 34 (RNA-binding motif protein 34) None
P42858 HTT S118 psp Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment] [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.; FUNCTION: [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles. {ECO:0000269|PubMed:24459296}.
P48745 CCN3 S316 ochoa CCN family member 3 (Cellular communication network factor 3) (Insulin-like growth factor-binding protein 9) (IBP-9) (IGF-binding protein 9) (IGFBP-9) (Nephro blastoma-overexpressed gene protein homolog) (Protein NOV homolog) (NovH) Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival (PubMed:12050162, PubMed:12695522, PubMed:15181016, PubMed:15611078, PubMed:21344378). Acts by binding to integrins or membrane receptors such as NOTCH1 (PubMed:12695522, PubMed:15611078, PubMed:21344378). Essential regulator of hematopoietic stem and progenitor cell function (PubMed:17463287). Inhibits myogenic differentiation through the activation of Notch-signaling pathway (PubMed:12050162). Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling (PubMed:20139355). Ligand of integrins ITGAV:ITGB3 and ITGA5:ITGB1, acts directly upon endothelial cells to stimulate pro-angiogenic activities and induces angiogenesis. In endothelial cells, supports cell adhesion, induces directed cell migration (chemotaxis) and promotes cell survival (PubMed:12695522). Also plays a role in cutaneous wound healing acting as integrin receptor ligand. Supports skin fibroblast adhesion through ITGA5:ITGB1 and ITGA6:ITGB1 and induces fibroblast chemotaxis through ITGAV:ITGB5. Seems to enhance bFGF-induced DNA synthesis in fibroblasts (PubMed:15611078). Involved in bone regeneration as a negative regulator (By similarity). Enhances the articular chondrocytic phenotype, whereas it repressed the one representing endochondral ossification (PubMed:21871891). Impairs pancreatic beta-cell function, inhibits beta-cell proliferation and insulin secretion (By similarity). Plays a role as negative regulator of endothelial pro-inflammatory activation reducing monocyte adhesion, its anti-inflammatory effects occur secondary to the inhibition of NF-kappaB signaling pathway (PubMed:21063504). Contributes to the control and coordination of inflammatory processes in atherosclerosis (By similarity). Attenuates inflammatory pain through regulation of IL1B- and TNF-induced MMP9, MMP2 and CCL2 expression. Inhibits MMP9 expression through ITGB1 engagement (PubMed:21871891). Brain osteoanabolic hormone (By similarity). Drives osteogenesis in osteochondral skeletal stem cells (PubMed:38987585). During lactation, maintains the maternal skeleton and viability of offspring (By similarity). {ECO:0000250|UniProtKB:Q64299, ECO:0000269|PubMed:12050162, ECO:0000269|PubMed:12695522, ECO:0000269|PubMed:15181016, ECO:0000269|PubMed:15611078, ECO:0000269|PubMed:17463287, ECO:0000269|PubMed:20139355, ECO:0000269|PubMed:21063504, ECO:0000269|PubMed:21344378, ECO:0000269|PubMed:21871891, ECO:0000269|PubMed:38987585}.
P50225 SULT1A1 S253 ochoa Sulfotransferase 1A1 (ST1A1) (EC 2.8.2.1) (Aryl sulfotransferase 1) (HAST1/HAST2) (Phenol sulfotransferase 1) (Phenol-sulfating phenol sulfotransferase 1) (P-PST 1) (ST1A3) (Thermostable phenol sulfotransferase) (Ts-PST) Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of a wide variety of acceptor molecules bearing a hydroxyl or an amine group. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Displays broad substrate specificity for small phenolic compounds. Plays an important role in the sulfonation of endogenous molecules such as steroid hormones (PubMed:12471039, PubMed:16221673, PubMed:21723874, PubMed:22069470, PubMed:7834621). Mediates the sulfate conjugation of a variety of xenobiotics, including the drugs acetaminophen and minoxidil (By similarity). Mediates also the metabolic activation of carcinogenic N-hydroxyarylamines leading to highly reactive intermediates capable of forming DNA adducts, potentially resulting in mutagenesis (PubMed:7834621). May play a role in gut microbiota-host metabolic interaction. O-sulfonates 4-ethylphenol (4-EP), a dietary tyrosine-derived metabolite produced by gut bacteria. The product 4-EPS crosses the blood-brain barrier and may negatively regulate oligodendrocyte maturation and myelination, affecting the functional connectivity of different brain regions associated with the limbic system (PubMed:35165440). Catalyzes the sulfate conjugation of dopamine (PubMed:8093002). Catalyzes the sulfation of T4 (L-thyroxine/3,5,3',5'-tetraiodothyronine), T3 (3,5,3'-triiodothyronine), rT3 (3,3',5'-triiodothyronine) and 3,3'-T2 (3,3'-diiodothyronine), with a substrate preference of 3,3'-T2 > rT3 > T3 > T4 (PubMed:10199779). {ECO:0000250|UniProtKB:P17988, ECO:0000269|PubMed:10199779, ECO:0000269|PubMed:12471039, ECO:0000269|PubMed:16221673, ECO:0000269|PubMed:21723874, ECO:0000269|PubMed:22069470, ECO:0000269|PubMed:35165440, ECO:0000269|PubMed:7834621, ECO:0000269|PubMed:8093002}.
P52179 MYOM1 S694 ochoa Myomesin-1 (190 kDa connectin-associated protein) (190 kDa titin-associated protein) (Myomesin family member 1) Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
P53675 CLTCL1 S889 ochoa Clathrin heavy chain 2 (Clathrin heavy chain on chromosome 22) (CLH-22) Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity). {ECO:0000250}.
P54278 PMS2 S403 ochoa Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2) Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Possesses an ATPase activity, but in the absence of gross structural changes, ATP hydrolysis may not be necessary for proficient mismatch repair (PubMed:35189042). {ECO:0000269|PubMed:16873062, ECO:0000269|PubMed:18206974, ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:30653781, ECO:0000269|PubMed:35189042}.
P54725 RAD23A S205 ochoa UV excision repair protein RAD23 homolog A (HR23A) (hHR23A) Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 'Lys-48'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to 'Lys-63'-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome.; FUNCTION: Involved in nucleotide excision repair and is thought to be functional equivalent for RAD23B in global genome nucleotide excision repair (GG-NER) by association with XPC. In vitro, the XPC:RAD23A dimer has NER activity. Can stabilize XPC.; FUNCTION: (Microbial infection) Involved in Vpr-dependent replication of HIV-1 in non-proliferating cells and primary macrophages. Required for the association of HIV-1 Vpr with the host proteasome. {ECO:0000269|PubMed:20614012}.
P54750 PDE1A S403 ochoa Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (Cam-PDE 1A) (EC 3.1.4.17) (61 kDa Cam-PDE) (hCam-1) Calcium/calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cGMP and cAMP, which are key regulators of many important physiological processes. Has a higher efficiency with cGMP compared to cAMP. {ECO:0000269|PubMed:8557689}.
P56817 BACE1 S83 psp Beta-secretase 1 (EC 3.4.23.46) (Aspartyl protease 2) (ASP2) (Asp 2) (Beta-site amyloid precursor protein cleaving enzyme 1) (Beta-site APP cleaving enzyme 1) (Memapsin-2) (Membrane-associated aspartic protease 2) Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity). {ECO:0000250|UniProtKB:P56818, ECO:0000269|PubMed:10656250, ECO:0000269|PubMed:10677483, ECO:0000269|PubMed:20354142}.
Q01970 PLCB3 S632 ochoa 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-3) (Phospholipase C-beta-3) (PLC-beta-3) Catalyzes the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:20966218, PubMed:29122926, PubMed:37991948, PubMed:9188725). Key transducer of G protein-coupled receptor signaling: activated by G(q)/G(11) G alpha proteins downstream of G protein-coupled receptors activation (PubMed:20966218, PubMed:37991948). In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway by promoting RASGRP4 activation by DAG, to promote neutrophil functional responses (By similarity). {ECO:0000250|UniProtKB:P51432, ECO:0000269|PubMed:20966218, ECO:0000269|PubMed:29122926, ECO:0000269|PubMed:37991948, ECO:0000269|PubMed:9188725}.
Q04637 EIF4G1 S314 ochoa Eukaryotic translation initiation factor 4 gamma 1 (eIF-4-gamma 1) (eIF-4G 1) (eIF-4G1) (p220) Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:29987188). Exists in two complexes, either with EIF1 or with EIF4E (mutually exclusive) (PubMed:29987188). Together with EIF1, is required for leaky scanning, in particular for avoiding cap-proximal start codon (PubMed:29987188). Together with EIF4E, antagonizes the scanning promoted by EIF1-EIF4G1 and locates the start codon (through a TISU element) without scanning (PubMed:29987188). As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation (PubMed:29062139). {ECO:0000269|PubMed:29062139, ECO:0000269|PubMed:29987188}.
Q07343 PDE4B S601 ochoa 3',5'-cyclic-AMP phosphodiesterase 4B (EC 3.1.4.53) (DPDE4) (PDE32) (cAMP-specific phosphodiesterase 4B) Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:15260978). May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents. {ECO:0000269|PubMed:10846163, ECO:0000269|PubMed:15003452, ECO:0000269|PubMed:15260978}.
Q08499 PDE4D S657 ochoa 3',5'-cyclic-AMP phosphodiesterase 4D (EC 3.1.4.53) (DPDE3) (PDE43) (cAMP-specific phosphodiesterase 4D) Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. {ECO:0000269|PubMed:15260978, ECO:0000269|PubMed:15576036, ECO:0000269|PubMed:9371713}.
Q12840 KIF5A S176 ochoa Kinesin heavy chain isoform 5A (EC 5.6.1.3) (Kinesin heavy chain neuron-specific 1) (Neuronal kinesin heavy chain) (NKHC) Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation. {ECO:0000250|UniProtKB:P33175, ECO:0000250|UniProtKB:Q6QLM7}.
Q12888 TP53BP1 S294 ochoa|psp TP53-binding protein 1 (53BP1) (p53-binding protein 1) (p53BP1) Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:17190600, PubMed:21144835, PubMed:22553214, PubMed:23333306, PubMed:27153538, PubMed:28241136, PubMed:31135337, PubMed:37696958). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23333306, PubMed:23727112, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:17190600, PubMed:23760478, PubMed:27153538, PubMed:28241136). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112). {ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:12364621, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:22553214, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23345425, ECO:0000269|PubMed:23727112, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:27153538, ECO:0000269|PubMed:28241136, ECO:0000269|PubMed:31135337, ECO:0000269|PubMed:37696958}.
Q12955 ANK3 S2672 ochoa Ankyrin-3 (ANK-3) (Ankyrin-G) Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). Required for intracellular adhesion and junctional conductance in myocytes, potentially via stabilization of GJA1/CX43 protein abundance and promotion of PKP2, GJA1/CX43, and SCN5A/Nav1.5 localization to cell-cell junctions (By similarity). {ECO:0000250|UniProtKB:G5E8K5, ECO:0000250|UniProtKB:O70511, ECO:0000269|PubMed:23903368, ECO:0000269|PubMed:7836469}.; FUNCTION: [Isoform 5]: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. {ECO:0000305|PubMed:17974005}.
Q13029 PRDM2 S1141 ochoa PR domain zinc finger protein 2 (EC 2.1.1.355) (GATA-3-binding protein G3B) (Lysine N-methyltransferase 8) (MTB-ZF) (MTE-binding protein) (PR domain-containing protein 2) (Retinoblastoma protein-interacting zinc finger protein) (Zinc finger protein RIZ) S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. {ECO:0000269|PubMed:14633678}.
Q13224 GRIN2B S917 ochoa Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon-2) (N-methyl D-aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N-methyl-D-aspartate receptor subunit 3) (NR3) (hNR3) Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). Participates in synaptic plasticity for learning and memory formation by contributing to the long-term depression (LTD) of hippocampus membrane currents (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). NMDARs mediate simultaneously the potasium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity). {ECO:0000250|UniProtKB:P35438, ECO:0000250|UniProtKB:Q01097, ECO:0000269|PubMed:24272827, ECO:0000269|PubMed:24863970, ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:27839871, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:38538865, ECO:0000269|PubMed:8768735}.
Q13342 SP140 S291 ochoa Nuclear body protein SP140 (Lymphoid-restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp-140) (Speckled 140 kDa) Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382). {ECO:0000269|PubMed:24267382, ECO:0000269|PubMed:8910577, ECO:0000303|PubMed:8910577}.
Q13342 SP140 S467 ochoa Nuclear body protein SP140 (Lymphoid-restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp-140) (Speckled 140 kDa) Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382). {ECO:0000269|PubMed:24267382, ECO:0000269|PubMed:8910577, ECO:0000303|PubMed:8910577}.
Q13415 ORC1 S311 ochoa Origin recognition complex subunit 1 (Replication control protein 1) Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.
Q13428 TCOF1 S777 ochoa Treacle protein (Treacher Collins syndrome protein) Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). {ECO:0000269|PubMed:12777385, ECO:0000269|PubMed:26399832}.
Q14123 PDE1C S413 ochoa Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (Cam-PDE 1C) (EC 3.1.4.17) (Hcam3) Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:29860631, PubMed:8557689). Has a high affinity for both cAMP and cGMP (PubMed:8557689). Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable). {ECO:0000269|PubMed:29860631, ECO:0000269|PubMed:8557689, ECO:0000305|PubMed:29860631}.
Q14155 ARHGEF7 S676 ochoa Rho guanine nucleotide exchange factor 7 (Beta-Pix) (COOL-1) (PAK-interacting exchange factor beta) (p85) Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons. {ECO:0000250, ECO:0000269|PubMed:18184567, ECO:0000269|PubMed:18716323, ECO:0000269|PubMed:19041750}.
Q14191 WRN S1133 ochoa|psp Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN (DNA helicase, RecQ-like type 3) (RecQ protein-like 2) (Werner syndrome protein) [Includes: 3'-5' exonuclease (EC 3.1.-.-); ATP-dependent helicase (EC 5.6.2.4) (DNA 3'-5' helicase WRN)] Multifunctional enzyme that has magnesium and ATP-dependent 3'-5' DNA-helicase activity on partially duplex substrates (PubMed:9224595, PubMed:9288107, PubMed:9611231). Also has 3'->5' exonuclease activity towards double-stranded (ds)DNA with a 5'-overhang (PubMed:11863428). Has no nuclease activity towards single-stranded (ss)DNA or blunt-ended dsDNA (PubMed:11863428). Helicase activity is most efficient with (d)ATP, but (d)CTP will substitute with reduced efficiency; strand displacement is enhanced by single-strand binding-protein (heterotrimeric replication protein A complex, RPA1, RPA2, RPA3) (PubMed:9611231). Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation (PubMed:9224595, PubMed:9288107, PubMed:9611231). Unwinds some G-quadruplex DNA (d(CGG)n tracts); unwinding seems to occur in both 5'-3' and 3'-5' direction and requires a short single-stranded tail (PubMed:10212265). d(CGG)n tracts have a propensity to assemble into tetraplex structures; other G-rich substrates from a telomeric or IgG switch sequence are not unwound (PubMed:10212265). Depletion leads to chromosomal breaks and genome instability (PubMed:33199508). {ECO:0000250|UniProtKB:O09053, ECO:0000269|PubMed:10212265, ECO:0000269|PubMed:11863428, ECO:0000269|PubMed:17563354, ECO:0000269|PubMed:18596042, ECO:0000269|PubMed:19283071, ECO:0000269|PubMed:19652551, ECO:0000269|PubMed:21639834, ECO:0000269|PubMed:27063109, ECO:0000269|PubMed:33199508, ECO:0000269|PubMed:9224595, ECO:0000269|PubMed:9288107, ECO:0000269|PubMed:9611231}.
Q14324 MYBPC2 S1017 ochoa Myosin-binding protein C, fast-type (Fast MyBP-C) (C-protein, skeletal muscle fast isoform) Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
Q14571 ITPR2 S1160 ochoa Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Inositol 1,4,5-trisphosphate receptor type 2) (Type 2 inositol 1,4,5-trisphosphate receptor) (Type 2 InsP3 receptor) Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Exists in two states; a long-lived closed state where the channel is essentially 'parked' with only very rare visits to an open state and that ligands facilitate the transition from the 'parked' state into a 'drive' mode represented by periods of bursting activity (By similarity). {ECO:0000250|UniProtKB:Q9Z329}.
Q14995 NR1D2 S242 ochoa Nuclear receptor subfamily 1 group D member 2 (Orphan nuclear hormone receptor BD73) (Rev-erb alpha-related receptor) (RVR) (Rev-erb-beta) (V-erbA-related protein 1-related) (EAR-1R) Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle (By similarity). Plays a role in the regulation of circadian sleep/wake cycle; essential for maintaining wakefulness during the dark phase or active period (By similarity). Key regulator of skeletal muscle mitochondrial function; negatively regulates the skeletal muscle expression of core clock genes and genes involved in mitochondrial biogenesis, fatty acid beta-oxidation and lipid metabolism (By similarity). May play a role in the circadian control of neutrophilic inflammation in the lung (By similarity). {ECO:0000250|UniProtKB:Q60674, ECO:0000269|PubMed:17892483, ECO:0000269|PubMed:17996965}.
Q15652 JMJD1C S652 ochoa Probable JmjC domain-containing histone demethylation protein 2C (EC 1.14.11.-) (Jumonji domain-containing protein 1C) (Thyroid receptor-interacting protein 8) (TR-interacting protein 8) (TRIP-8) Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity). {ECO:0000250}.
Q16665 HIF1A S589 psp Hypoxia-inducible factor 1-alpha (HIF-1-alpha) (HIF1-alpha) (ARNT-interacting protein) (Basic-helix-loop-helix-PAS protein MOP1) (Class E basic helix-loop-helix protein 78) (bHLHe78) (Member of PAS protein 1) (PAS domain-containing protein 8) Functions as a master transcriptional regulator of the adaptive response to hypoxia (PubMed:11292861, PubMed:11566883, PubMed:15465032, PubMed:16973622, PubMed:17610843, PubMed:18658046, PubMed:20624928, PubMed:22009797, PubMed:30125331, PubMed:9887100). Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia (PubMed:11292861, PubMed:11566883, PubMed:15465032, PubMed:16973622, PubMed:17610843, PubMed:20624928, PubMed:22009797, PubMed:30125331, PubMed:9887100). Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease (PubMed:22009797). Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300 (PubMed:16543236, PubMed:9887100). Activity is enhanced by interaction with NCOA1 and/or NCOA2 (PubMed:10594042). Interaction with redox regulatory protein APEX1 seems to activate CTAD and potentiates activation by NCOA1 and CREBBP (PubMed:10202154, PubMed:10594042). Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia (PubMed:19528298). {ECO:0000250|UniProtKB:Q61221, ECO:0000269|PubMed:10202154, ECO:0000269|PubMed:10594042, ECO:0000269|PubMed:11292861, ECO:0000269|PubMed:11566883, ECO:0000269|PubMed:15465032, ECO:0000269|PubMed:16543236, ECO:0000269|PubMed:16973622, ECO:0000269|PubMed:17610843, ECO:0000269|PubMed:18658046, ECO:0000269|PubMed:19528298, ECO:0000269|PubMed:20624928, ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:30125331, ECO:0000269|PubMed:9887100}.; FUNCTION: (Microbial infection) Upon infection by human coronavirus SARS-CoV-2, is required for induction of glycolysis in monocytes and the consequent pro-inflammatory state (PubMed:32697943). In monocytes, induces expression of ACE2 and cytokines such as IL1B, TNF, IL6, and interferons (PubMed:32697943). Promotes human coronavirus SARS-CoV-2 replication and monocyte inflammatory response (PubMed:32697943). {ECO:0000269|PubMed:32697943}.
Q2KHM9 KIAA0753 S287 ochoa Protein moonraker (MNR) (OFD1- and FOPNL-interacting protein) Involved in centriole duplication (PubMed:24613305, PubMed:26297806). Positively regulates CEP63 centrosomal localization (PubMed:24613305, PubMed:26297806). Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806). May play a role in cilium assembly. {ECO:0000269|PubMed:24613305, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:28220259}.
Q2KHR3 QSER1 S539 ochoa Glutamine and serine-rich protein 1 Plays an essential role in the protection and maintenance of transcriptional and developmental programs. Protects many bivalent promoters and poised enhancers from hypermethylation, showing a marked preference for these regulatory elements over other types of promoters or enhancers. Mechanistically, cooperates with TET1 and binds to DNA in a common complex to inhibit the binding of DNMT3A/3B and therefore de novo methylation. {ECO:0000269|PubMed:33833093}.
Q2KHR3 QSER1 S1272 ochoa Glutamine and serine-rich protein 1 Plays an essential role in the protection and maintenance of transcriptional and developmental programs. Protects many bivalent promoters and poised enhancers from hypermethylation, showing a marked preference for these regulatory elements over other types of promoters or enhancers. Mechanistically, cooperates with TET1 and binds to DNA in a common complex to inhibit the binding of DNMT3A/3B and therefore de novo methylation. {ECO:0000269|PubMed:33833093}.
Q3KR37 GRAMD1B S550 ochoa Protein Aster-B (GRAM domain-containing protein 1B) Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity). {ECO:0000250|UniProtKB:Q80TI0}.
Q3T8J9 GON4L S476 ochoa GON-4-like protein (GON-4 homolog) Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A and HDAC1. Required for B cell lymphopoiesis. {ECO:0000250|UniProtKB:Q9DB00}.
Q5JTD0 TJAP1 S491 ochoa Tight junction-associated protein 1 (Protein incorporated later into tight junctions) (Tight junction protein 4) Plays a role in regulating the structure of the Golgi apparatus. {ECO:0000250|UniProtKB:Q9DCD5}.
Q5T4S7 UBR4 S181 ochoa E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (p600) (N-recognin-4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600) E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm (PubMed:25582440, PubMed:29033132, PubMed:34893540, PubMed:37891180, PubMed:38030679, PubMed:38182926, PubMed:38297121). Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation (PubMed:34893540, PubMed:37891180, PubMed:38030679). Recognizes both type-1 and type-2 N-degrons, containing positively charged amino acids (Arg, Lys and His) and bulky and hydrophobic amino acids, respectively (PubMed:38030679). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:37891180). Together with UBR5, part of a cytoplasm protein quality control pathway that prevents protein aggregation by catalyzing assembly of heterotypic 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on aggregated proteins, leading to substrate recognition by the segregase p97/VCP and degradation by the proteasome: UBR4 probably synthesizes mixed chains containing multiple linkages, while UBR5 is likely branching multiple 'Lys-48'-linked chains of substrates initially modified (PubMed:29033132). Together with KCMF1, part of a protein quality control pathway that catalyzes ubiquitination and degradation of proteins that have been oxidized in response to reactive oxygen species (ROS): recognizes proteins with an Arg-CysO3(H) degron at the N-terminus, and mediates assembly of heterotypic 'Lys-63'-/'Lys-27'-linked branched ubiquitin chains on oxidized proteins, leading to their degradation by autophagy (PubMed:34893540). Catalytic component of the SIFI complex, a multiprotein complex required to inhibit the mitochondrial stress response after a specific stress event has been resolved: ubiquitinates and degrades (1) components of the HRI-mediated signaling of the integrated stress response, such as DELE1 and EIF2AK1/HRI, as well as (2) unimported mitochondrial precursors (PubMed:38297121). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121). Mediates ubiquitination of ACLY, leading to its subsequent degradation (PubMed:23932781). Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization (PubMed:16214886). {ECO:0000269|PubMed:16214886, ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:25582440, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:34893540, ECO:0000269|PubMed:37891180, ECO:0000269|PubMed:38030679, ECO:0000269|PubMed:38182926, ECO:0000269|PubMed:38297121}.
Q5TC82 RC3H1 S690 ochoa Roquin-1 (Roquin) (EC 2.3.2.27) (RING finger and C3H zinc finger protein 1) (RING finger and CCCH-type zinc finger domain-containing protein 1) (RING finger protein 198) Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078, PubMed:31636267). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing a hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Together with ZC3H12A, destabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25026078, PubMed:25504471). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406, PubMed:31636267). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). {ECO:0000250|UniProtKB:Q4VGL6, ECO:0000269|PubMed:25026078, ECO:0000269|PubMed:25504471, ECO:0000269|PubMed:25697406, ECO:0000269|PubMed:26489670, ECO:0000269|PubMed:31636267}.
Q5TC84 OGFRL1 S381 ochoa Opioid growth factor receptor-like protein 1 None
Q5THK1 PRR14L S945 ochoa Protein PRR14L (Proline rich 14-like protein) None
Q5UIP0 RIF1 S1854 ochoa Telomere-associated protein RIF1 (Rap1-interacting factor 1 homolog) Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity). {ECO:0000250|UniProtKB:Q6PR54, ECO:0000269|PubMed:15342490, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:28241136}.
Q5VST9 OBSCN S7244 ochoa Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK) Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662). {ECO:0000250|UniProtKB:A2AAJ9, ECO:0000269|PubMed:11448995, ECO:0000269|PubMed:16205939, ECO:0000269|PubMed:28826662}.
Q5VZK9 CARMIL1 S122 ochoa F-actin-uncapping protein LRRC16A (CARMIL homolog) (Capping protein regulator and myosin 1 linker protein 1) (Capping protein, Arp2/3 and myosin-I linker homolog 1) (Capping protein, Arp2/3 and myosin-I linker protein 1) (Leucine-rich repeat-containing protein 16A) Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667). {ECO:0000269|PubMed:16054028, ECO:0000269|PubMed:19846667}.
Q66K14 TBC1D9B S995 ochoa TBC1 domain family member 9B May act as a GTPase-activating protein for Rab family protein(s).
Q68DQ2 CRYBG3 S1280 ochoa Very large A-kinase anchor protein (vlAKAP) (Beta/gamma crystallin domain-containing protein 3) [Isoform vlAKAP]: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA). {ECO:0000269|PubMed:25097019}.
Q69YH5 CDCA2 S98 ochoa Cell division cycle-associated protein 2 (Recruits PP1 onto mitotic chromatin at anaphase protein) (Repo-Man) Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates. {ECO:0000269|PubMed:16492807, ECO:0000269|PubMed:16998479}.
Q69YH5 CDCA2 S756 ochoa Cell division cycle-associated protein 2 (Recruits PP1 onto mitotic chromatin at anaphase protein) (Repo-Man) Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates. {ECO:0000269|PubMed:16492807, ECO:0000269|PubMed:16998479}.
Q6DN90 IQSEC1 S211 ochoa IQ motif and SEC7 domain-containing protein 1 (ADP-ribosylation factors guanine nucleotide-exchange protein 100) (ADP-ribosylation factors guanine nucleotide-exchange protein 2) (Brefeldin-resistant Arf-GEF 2 protein) (BRAG2) Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:11226253, PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalization of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity). {ECO:0000250|UniProtKB:A0A0G2JUG7, ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286, ECO:0000269|PubMed:24058294, ECO:0000305|PubMed:31607425}.
Q6MZP7 LIN54 S635 ochoa Protein lin-54 homolog (CXC domain-containing protein 1) Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context (PubMed:17531812, PubMed:17671431). In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes (PubMed:17531812, PubMed:17671431). In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation (PubMed:17531812, PubMed:17671431). In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner (PubMed:19725879). Specifically recognizes the consensus motif 5'-TTYRAA-3' in target DNA (PubMed:27465258). {ECO:0000269|PubMed:17531812, ECO:0000269|PubMed:17671431, ECO:0000269|PubMed:19725879, ECO:0000269|PubMed:27465258}.
Q6P0Q8 MAST2 S900 ochoa Microtubule-associated serine/threonine-protein kinase 2 (EC 2.7.11.1) Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). {ECO:0000250}.
Q6P1M3 LLGL2 S802 ochoa LLGL scribble cell polarity complex component 2 (HGL) (Lethal(2) giant larvae protein homolog 2) Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity. {ECO:0000269|PubMed:15632202}.
Q6PID6 TTC33 S197 ochoa Tetratricopeptide repeat protein 33 (TPR repeat protein 33) (Osmosis-responsive factor) None
Q6PJI9 WDR59 S603 ochoa GATOR2 complex protein WDR59 (WD repeat-containing protein 59) As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36577058). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation (PubMed:36528027). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25457612, PubMed:27487210). {ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210, ECO:0000269|PubMed:35831510, ECO:0000269|PubMed:36528027, ECO:0000269|PubMed:36577058}.
Q6RI45 BRWD3 S1386 ochoa Bromodomain and WD repeat-containing protein 3 Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000269|PubMed:21834987}.
Q6T4R5 NHS S739 ochoa Actin remodeling regulator NHS (Congenital cataracts and dental anomalies protein) (Nance-Horan syndrome protein) May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development. {ECO:0000269|PubMed:20332100}.
Q6U841 SLC4A10 S89 ochoa Sodium-driven chloride bicarbonate exchanger (Solute carrier family 4 member 10) Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Acting on presynaptic intracellular pH, it promotes GABA release, reduces the excitability of CA1 pyramidal neurons, and modulates short-term synaptic plasticity (By similarity). Required in retinal cells to maintain normal pH which is necessary for normal vision (By similarity). In the kidney, likely to mediate bicarbonate reclamation in the apical membrane of the proximal tubules (By similarity). {ECO:0000250|UniProtKB:Q5DTL9, ECO:0000250|UniProtKB:Q80ZA5, ECO:0000269|PubMed:18319254}.
Q6ZUT9 DENND5B S822 ochoa DENN domain-containing protein 5B (Rab6IP1-like protein) Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO:0000269|PubMed:20937701}.
Q7Z2D5 PLPPR4 S547 ochoa Phospholipid phosphatase-related protein type 4 (Brain-specific phosphatidic acid phosphatase-like protein 1) (Inactive 2-lysophosphatidate phosphatase PLPPR4) (Lipid phosphate phosphatase-related protein type 4) (Plasticity-related gene 1 protein) (PRG-1) Postsynaptic density membrane protein that indirectly regulates glutamatergic synaptic transmission through lysophosphatidic acid (LPA)-mediated signaling pathways. Binds lysophosphatidic acid (LPA) and mediates its internalization into cells. Could act as receptor or a transporter of this lipid at the post-synaptic membrane (By similarity). Modulates lysophosphatidic acid (LPA) activity in neuron axonal outgrowth during development by attenuating phospholipid-induced axon collapse (By similarity). {ECO:0000250|UniProtKB:Q7TMB7, ECO:0000250|UniProtKB:Q7TME0}.
Q7Z340 ZNF551 S126 ochoa Zinc finger protein 551 (Zinc finger protein KOX23) May be involved in transcriptional regulation.
Q7Z3K6 MIER3 S168 ochoa Mesoderm induction early response protein 3 (Mi-er3) Transcriptional repressor. {ECO:0000250}.
Q7Z5L2 R3HCC1L S42 ochoa Coiled-coil domain-containing protein R3HCC1L (Growth inhibition and differentiation-related protein 88) (Putative mitochondrial space protein 32.1) (R3H and coiled-coil domain-containing protein 1-like) None
Q7Z5L9 IRF2BP2 S175 ochoa Interferon regulatory factor 2-binding protein 2 (IRF-2-binding protein 2) (IRF-2BP2) Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798). {ECO:0000269|PubMed:12799427, ECO:0000269|PubMed:20702774, ECO:0000269|PubMed:21576369, ECO:0000269|PubMed:27016798}.
Q86SQ0 PHLDB2 S501 ochoa Pleckstrin homology-like domain family B member 2 (Protein LL5-beta) Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity). {ECO:0000250, ECO:0000269|PubMed:12376540}.
Q8IV48 ERI1 S34 ochoa 3'-5' exoribonuclease 1 (EC 3.1.13.1) (3'-5' exonuclease ERI1) (Eri-1 homolog) (Histone mRNA 3'-end-specific exoribonuclease) (Histone mRNA 3'-exonuclease 1) (Protein 3'hExo) (HEXO) RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication (PubMed:14536070, PubMed:16912046, PubMed:17135487, PubMed:37352860). A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient 3'-end histone mRNA exonuclease activity and degradation of RNA substrates (PubMed:14536070, PubMed:16912046, PubMed:17135487). Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi) (PubMed:14961122). Required for binding the 5'-ACCCA-3' sequence present in stem-loop structure (PubMed:14536070, PubMed:16912046). Able to bind other mRNAs (PubMed:14536070, PubMed:16912046). Required for 5.8S rRNA 3'-end processing (PubMed:37352860). Also binds to 5.8s ribosomal RNA (By similarity). Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs (PubMed:14536070, PubMed:16912046, PubMed:17135487). In vitro, does not have sequence specificity (PubMed:17135487). In vitro, has weak DNA exonuclease activity (PubMed:17135487). In vitro, shows biphasic kinetics such that there is rapid hydrolysis of the last three unpaired RNA nucleotides in the 39 flanking sequence followed by a much slower cleavage through the stem that occurs over a longer incubation period in the order of hours (PubMed:17135487). ERI1-mediated RNA metabolism plays a key role in chondrogenesis (PubMed:37352860). {ECO:0000250|UniProtKB:Q7TMF2, ECO:0000269|PubMed:14536070, ECO:0000269|PubMed:14961122, ECO:0000269|PubMed:16912046, ECO:0000269|PubMed:17135487, ECO:0000269|PubMed:37352860}.
Q8IVT2 MISP S575 ochoa|psp Mitotic interactor and substrate of PLK1 (Mitotic spindle positioning protein) Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus. {ECO:0000269|PubMed:23509069, ECO:0000269|PubMed:23574715}.
Q8IZT6 ASPM S446 ochoa Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog) Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis. {ECO:0000269|PubMed:12355089, ECO:0000269|PubMed:15972725, ECO:0000269|PubMed:28436967}.
Q8N3K9 CMYA5 S2123 ochoa Cardiomyopathy-associated protein 5 (Dystrobrevin-binding protein 2) (Genethonin-3) (Myospryn) (SPRY domain-containing protein 2) (Tripartite motif-containing protein 76) May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q70KF4}.
Q8NHY3 GAS2L2 S662 ochoa GAS2-like protein 2 (GAS2-related protein on chromosome 17) (Growth arrest-specific protein 2-like 2) Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704). {ECO:0000250|UniProtKB:Q5SSG4, ECO:0000269|PubMed:12584248, ECO:0000269|PubMed:24706950, ECO:0000269|PubMed:30665704}.
Q8NI27 THOC2 S1520 ochoa THO complex subunit 2 (Tho2) (hTREX120) Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for efficient export of polyadenylated RNA and spliced mRNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for NXF1 localization to the nuclear rim (PubMed:22893130). THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. {ECO:0000269|PubMed:11979277, ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:22893130, ECO:0000269|PubMed:23222130, ECO:0000269|PubMed:33191911}.; FUNCTION: (Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. {ECO:0000269|PubMed:18974867}.
Q8TBB1 LNX1 S441 ochoa E3 ubiquitin-protein ligase LNX (EC 2.3.2.27) (Ligand of Numb-protein X 1) (Numb-binding protein 1) (PDZ domain-containing RING finger protein 2) (RING-type E3 ubiquitin transferase LNX) E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65. {ECO:0000250|UniProtKB:O70263}.; FUNCTION: Isoform 2 provides an endocytic scaffold for IGSF5/JAM4. {ECO:0000250|UniProtKB:O70263}.
Q8TDN4 CABLES1 S313 ochoa|psp CDK5 and ABL1 enzyme substrate 1 (Interactor with CDK3 1) (Ik3-1) Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity). {ECO:0000250}.
Q8WUY3 PRUNE2 S682 ochoa Protein prune homolog 2 (BNIP2 motif-containing molecule at the C-terminal region 1) May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells. {ECO:0000269|PubMed:16288218}.
Q8WVI7 PPP1R1C S65 ochoa Protein phosphatase 1 regulatory subunit 1C (Inhibitor-5 of protein phosphatase 1) (IPP5) May increase cell susceptibility to TNF-induced apoptosis. {ECO:0000269|PubMed:19874272}.
Q8WWH5 TRUB1 S101 ochoa Pseudouridylate synthase TRUB1 (EC 5.4.99.-) (TruB pseudouridine synthase homolog 1) (tRNA pseudouridine 55 synthase TRUB1) (Psi55 synthase TRUB1) (EC 5.4.99.25) Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs (PubMed:28073919, PubMed:31477916, PubMed:32926445). Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure (PubMed:28073919, PubMed:31477916). Constitutes the major pseudouridine synthase acting on mRNAs (PubMed:28073919). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:32926445, PubMed:33023933). Promotes the processing of pri-let-7 microRNAs (pri-miRNAs) independently of its RNA pseudouridylate synthase activity (PubMed:32926445). Acts by binding to the stem-loop structure on pri-let-7, preventing LIN28-binding (LIN28A and/or LIN28B), thereby enhancing the interaction between pri-let-7 and the microprocessor DGCR8, which mediates miRNA maturation (PubMed:32926445). {ECO:0000269|PubMed:28073919, ECO:0000269|PubMed:31477916, ECO:0000269|PubMed:32926445, ECO:0000269|PubMed:33023933}.
Q8WWQ0 PHIP S1377 ochoa PH-interacting protein (PHIP) (DDB1- and CUL4-associated factor 14) (IRS-1 PH domain-binding protein) (WD repeat-containing protein 11) Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:12242307, ECO:0000269|PubMed:21834987}.
Q8WYP5 AHCTF1 S1402 ochoa Protein ELYS (Embryonic large molecule derived from yolk sac) (Protein MEL-28) (Putative AT-hook-containing transcription factor 1) Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis. {ECO:0000269|PubMed:17098863, ECO:0000269|PubMed:17235358}.
Q92556 ELMO1 S80 ochoa Engulfment and cell motility protein 1 (Protein ced-12 homolog) Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:12134158}.
Q92576 PHF3 S1014 ochoa PHD finger protein 3 None
Q92628 KIAA0232 S814 ochoa Uncharacterized protein KIAA0232 None
Q92750 TAF4B S595 ochoa Transcription initiation factor TFIID subunit 4B (Transcription initiation factor TFIID 105 kDa subunit) (TAF(II)105) (TAFII-105) (TAFII105) Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF-kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with OCBA/POU2AF1, acts as a coactivator of B-cell-specific transcription. Plays a role in spermiogenesis and oogenesis. {ECO:0000250|UniProtKB:G5E8Z2, ECO:0000269|PubMed:10828057, ECO:0000269|PubMed:10849440, ECO:0000269|PubMed:16088961, ECO:0000303|PubMed:24431330}.
Q92922 SMARCC1 S310 ochoa SWI/SNF complex subunit SMARCC1 (BRG1-associated factor 155) (BAF155) (SWI/SNF complex 155 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1) Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). {ECO:0000250|UniProtKB:P97496, ECO:0000269|PubMed:10078207, ECO:0000269|PubMed:11018012, ECO:0000269|PubMed:29374058, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
Q92997 DVL3 S421 psp Segment polarity protein dishevelled homolog DVL-3 (Dishevelled-3) (DSH homolog 3) Involved in the signal transduction pathway mediated by multiple Wnt genes. {ECO:0000250|UniProtKB:Q61062}.
Q969H0 FBXW7 S349 psp F-box/WD repeat-containing protein 7 (Archipelago homolog) (hAgo) (F-box and WD-40 domain-containing protein 7) (F-box protein FBX30) (SEL-10) (hCdc4) Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:17434132, PubMed:22748924, PubMed:26976582, PubMed:28727686, PubMed:34741373, PubMed:35395208). Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination (PubMed:17434132, PubMed:22748924, PubMed:26774286, PubMed:26976582, PubMed:28727686, PubMed:34741373). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1 (PubMed:11565034, PubMed:11585921, PubMed:12354302, PubMed:14739463, PubMed:15103331, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:25775507, PubMed:25897075, PubMed:26976582, PubMed:28007894, PubMed:28727686, PubMed:29149593, PubMed:34102342). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018). Also able to promote 'Lys-63'-linked ubiquitination in response to DNA damage (PubMed:26774286). The SCF(FBXW7) complex facilitates double-strand break repair following phosphorylation by ATM: phosphorylation promotes localization to sites of double-strand breaks and 'Lys-63'-linked ubiquitination of phosphorylated XRCC4, enhancing DNA non-homologous end joining (PubMed:26774286). {ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921, ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331, ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923, ECO:0000269|PubMed:22748924, ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:25897075, ECO:0000269|PubMed:26774286, ECO:0000269|PubMed:26976582, ECO:0000269|PubMed:27238018, ECO:0000269|PubMed:28007894, ECO:0000269|PubMed:28727686, ECO:0000269|PubMed:29149593, ECO:0000269|PubMed:34102342, ECO:0000269|PubMed:34741373, ECO:0000269|PubMed:35395208, ECO:0000305|PubMed:12354302}.
Q96E14 RMI2 S112 psp RecQ-mediated genome instability protein 2 (hRMI2) (BLM-associated protein of 18 kDa) (BLAP18) Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM. {ECO:0000269|PubMed:18923082, ECO:0000269|PubMed:18923083, ECO:0000269|PubMed:27977684}.
Q96FZ2 HMCES S160 ochoa Abasic site processing protein HMCES (EC 4.-.-.-) (Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein) (ES cell-specific 5hmC-binding protein) (Peptidase HMCES) (EC 3.4.-.-) (SRAP domain-containing protein 1) Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites (PubMed:30554877, PubMed:31235913, PubMed:31235915, PubMed:32307824, PubMed:32492421). Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue (PubMed:30554877, PubMed:31235913). Promotes error-free repair by protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks (PubMed:30554877). The HMCES DNA-protein cross-link is then either reversed or degraded (PubMed:30554877, PubMed:36608669, PubMed:37519246, PubMed:37950866). HMCES is able to catalyze the reversal of its thiazolidine cross-link and cycle between a cross-link and a non-cross-linked state depending on DNA context: mediates self-reversal of the thiazolidine cross-link in double stranded DNA, allowing APEX1 to initiate downstream repair of abasic sites (PubMed:37519246, PubMed:37950866). The HMCES DNA-protein cross-link can also be degraded by the SPRTN metalloprotease following unfolding by the BRIP1/FANCJ helicase (PubMed:36608669). Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction (PubMed:31235915, PubMed:31806351). Plays a protective role during somatic hypermutation of immunoglobulin genes in B-cells: acts via its ability to form covalent cross-links with abasic sites, thereby limiting the accumulation of deletions in somatic hypermutation target regions (PubMed:35450882). Also involved in class switch recombination (CSR) in B-cells independently of the formation of a DNA-protein cross-link: acts by binding and protecting ssDNA overhangs to promote DNA double-strand break repair through the microhomology-mediated alternative-end-joining (Alt-EJ) pathway (By similarity). Acts as a protease: mediates autocatalytic processing of its N-terminal methionine in order to expose the catalytic cysteine (By similarity). {ECO:0000250|UniProtKB:Q8R1M0, ECO:0000269|PubMed:30554877, ECO:0000269|PubMed:31235913, ECO:0000269|PubMed:31235915, ECO:0000269|PubMed:31806351, ECO:0000269|PubMed:32307824, ECO:0000269|PubMed:32492421, ECO:0000269|PubMed:35450882, ECO:0000269|PubMed:36608669, ECO:0000269|PubMed:37519246, ECO:0000269|PubMed:37950866}.
Q96I24 FUBP3 S296 ochoa Far upstream element-binding protein 3 (FUSE-binding protein 3) May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression.
Q96N21 TEPSIN S333 ochoa AP-4 complex accessory subunit Tepsin (ENTH domain-containing protein 2) (Epsin for AP-4) (Tetra-epsin) Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. {ECO:0000305|PubMed:22472443, ECO:0000305|PubMed:26542808}.
Q96PE5 OPALIN S88 ochoa Opalin (Oligodendrocytic myelin paranodal and inner loop protein) (Transmembrane protein 10) Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation. Promotes oligodendrocyte terminal differentiation. {ECO:0000250|UniProtKB:Q7M750}.
Q96PZ2 FAM111A S26 ochoa Serine protease FAM111A (EC 3.4.21.-) Single-stranded DNA-binding serine protease that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:32165630). DPCs are highly toxic DNA lesions that interfere with essential chromatin transactions, such as replication and transcription, and which are induced by reactive agents, such as UV light or formaldehyde (PubMed:32165630). Protects replication fork from stalling by removing DPCs, such as covalently trapped topoisomerase 1 (TOP1) adducts on DNA lesion, or poly(ADP-ribose) polymerase 1 (PARP1)-DNA complexes trapped by PARP inhibitors (PubMed:32165630). Required for PCNA loading on replication sites (PubMed:24561620). Promotes S-phase entry and DNA synthesis (PubMed:24561620). Also acts as a restriction factor for some viruses including SV40 polyomavirus and vaccinia virus (PubMed:23093934, PubMed:37607234). Mechanistically, affects nuclear barrier function during viral replication by mediating the disruption of the nuclear pore complex (NPC) via its protease activity (PubMed:33369867, PubMed:37607234). In turn, interacts with vaccinia virus DNA-binding protein OPG079 in the cytoplasm and promotes its degradation without the need of its protease activity but through autophagy (PubMed:37607234). {ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:32165630, ECO:0000269|PubMed:37607234}.
Q96QB1 DLC1 S557 psp Rho GTPase-activating protein 7 (Deleted in liver cancer 1 protein) (DLC-1) (HP protein) (Rho-type GTPase-activating protein 7) (START domain-containing protein 12) (StARD12) (StAR-related lipid transfer protein 12) Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85 (PubMed:26166433). The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433). {ECO:0000269|PubMed:18786931, ECO:0000269|PubMed:19170769, ECO:0000269|PubMed:19710422, ECO:0000269|PubMed:26166433}.
Q96RV3 PCNX1 S420 ochoa Pecanex-like protein 1 (Pecanex homolog protein 1) None
Q96S99 PLEKHF1 S227 ochoa Pleckstrin homology domain-containing family F member 1 (PH domain-containing family F member 1) (Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains) (Apoptosis-inducing protein) (PH and FYVE domain-containing protein 1) (Phafin-1) (Zinc finger FYVE domain-containing protein 15) May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8. {ECO:0000269|PubMed:16188880}.
Q96SY0 INTS14 S387 ochoa Integrator complex subunit 14 (von Willebrand factor A domain-containing protein 9) Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:32647223). Within the integrator complex, INTS14 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386, PubMed:38906142). {ECO:0000269|PubMed:32647223, ECO:0000269|PubMed:38570683, ECO:0000269|PubMed:38823386, ECO:0000269|PubMed:38906142}.
Q96T88 UHRF1 S639 ochoa|psp E3 ubiquitin-protein ligase UHRF1 (EC 2.3.2.27) (Inverted CCAAT box-binding protein of 90 kDa) (Nuclear protein 95) (Nuclear zinc finger protein Np95) (HuNp95) (hNp95) (RING finger protein 106) (RING-type E3 ubiquitin transferase UHRF1) (Transcription factor ICBP90) (Ubiquitin-like PHD and RING finger domain-containing protein 1) (hUHRF1) (Ubiquitin-like-containing PHD and RING finger domains protein 1) Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. Plays a role in DNA repair by cooperating with UHRF2 to ensure recruitment of FANCD2 to interstrand cross-links (ICLs) leading to FANCD2 activation. Acts as a critical player of proper spindle architecture by catalyzing the 'Lys-63'-linked ubiquitination of KIF11, thereby controlling KIF11 localization on the spindle (PubMed:37728657). {ECO:0000269|PubMed:10646863, ECO:0000269|PubMed:15009091, ECO:0000269|PubMed:15361834, ECO:0000269|PubMed:17673620, ECO:0000269|PubMed:17967883, ECO:0000269|PubMed:19056828, ECO:0000269|PubMed:21745816, ECO:0000269|PubMed:21777816, ECO:0000269|PubMed:22945642, ECO:0000269|PubMed:30335751, ECO:0000269|PubMed:37728657}.
Q99460 PSMD1 S315 ochoa 26S proteasome non-ATPase regulatory subunit 1 (26S proteasome regulatory subunit RPN2) (26S proteasome regulatory subunit S1) (26S proteasome subunit p112) Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. {ECO:0000269|PubMed:1317798}.
Q99576 TSC22D3 S102 ochoa TSC22 domain family protein 3 (DSIP-immunoreactive peptide) (Protein DIP) (hDIP) (Delta sleep-inducing peptide immunoreactor) (Glucocorticoid-induced leucine zipper protein) (GILZ) (TSC-22-like protein) (TSC-22-related protein) (TSC-22R) Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11 (PubMed:15031210). In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10 (PubMed:12393603). In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation and thereby NFKB1 DNA-binding activities (PubMed:11468175). In vitro, suppresses AP-1 transcription factor complex DNA-binding activities (By similarity). {ECO:0000250|UniProtKB:Q9Z2S7, ECO:0000269|PubMed:11468175, ECO:0000269|PubMed:12393603, ECO:0000269|PubMed:15031210}.; FUNCTION: [Isoform 1]: Inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulating MYOD1 and HDAC1 transcriptional activity resulting in reduced expression of MYOG. {ECO:0000250|UniProtKB:Q9Z2S7}.
Q99590 SCAF11 S608 ochoa Protein SCAF11 (CTD-associated SR protein 11) (Renal carcinoma antigen NY-REN-40) (SC35-interacting protein 1) (SR-related and CTD-associated factor 11) (SRSF2-interacting protein) (Serine/arginine-rich splicing factor 2-interacting protein) (Splicing factor, arginine/serine-rich 2-interacting protein) (Splicing regulatory protein 129) (SRrp129) Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. {ECO:0000269|PubMed:9447963}.
Q9BQI3 EIF2AK1 S498 ochoa Eukaryotic translation initiation factor 2-alpha kinase 1 (EC 2.7.11.1) (Heme-controlled repressor) (HCR) (Heme-regulated eukaryotic initiation factor eIF-2-alpha kinase) (Heme-regulated inhibitor) (hHRI) (Hemin-sensitive initiation factor 2-alpha kinase) Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions (PubMed:32132706, PubMed:32132707, PubMed:37327776, PubMed:37550454, PubMed:38340717). Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock (PubMed:32132706, PubMed:32132707, PubMed:37327776, PubMed:37550454, PubMed:38340717). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707, PubMed:37327776). Acts as a key sensor of heme-deficiency: in normal conditions, binds hemin via a cysteine thiolate and histidine nitrogenous coordination, leading to inhibit the protein kinase activity (By similarity). This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell: heme depletion relieves inhibition and stimulates kinase activity, activating the ISR (By similarity). Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions (By similarity). In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties (By similarity). It thereby plays an essential protective role for RBC survival in anemias of iron deficiency (By similarity). Iron deficiency also triggers activation by full-length DELE1 (PubMed:37327776). Also activates the ISR in response to mitochondrial dysfunction: HRI/EIF2AK1 protein kinase activity is activated upon binding to the processed form of DELE1 (S-DELE1), thereby promoting the ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). Also acts as an activator of mitophagy in response to mitochondrial damage: catalyzes phosphorylation of eIF-2-alpha (EIF2S1) following activation by S-DELE1, thereby promoting mitochondrial localization of EIF2S1, triggering PRKN-independent mitophagy (PubMed:38340717). {ECO:0000250|UniProtKB:Q9Z2R9, ECO:0000269|PubMed:32132706, ECO:0000269|PubMed:32132707, ECO:0000269|PubMed:32197074, ECO:0000269|PubMed:37550454, ECO:0000269|PubMed:38340717}.
Q9BQI5 SGIP1 S319 ochoa SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein) May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis. {ECO:0000250|UniProtKB:Q8VD37}.
Q9BTE3 MCMBP S118 ochoa Mini-chromosome maintenance complex-binding protein (MCM-BP) (MCM-binding protein) Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion. {ECO:0000269|PubMed:20090939, ECO:0000269|PubMed:21196493}.
Q9BVR0 HERC2P3 S93 ochoa Putative HERC2-like protein 3 None
Q9C0I3 CCSER1 S649 ochoa Serine-rich coiled-coil domain-containing protein 1 (Coiled-coil serine-rich protein 1) None
Q9C0J9 BHLHE41 S122 ochoa Class E basic helix-loop-helix protein 41 (bHLHe41) (Class B basic helix-loop-helix protein 3) (bHLHb3) (Differentially expressed in chondrocytes protein 2) (hDEC2) (Enhancer-of-split and hairy-related protein 1) (SHARP-1) Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297, PubMed:19786558, PubMed:25083013). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:25083013). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity). {ECO:0000250|UniProtKB:Q99PV5, ECO:0000269|PubMed:11278948, ECO:0000269|PubMed:14672706, ECO:0000269|PubMed:15193144, ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297, ECO:0000269|PubMed:19786558, ECO:0000269|PubMed:25083013}.
Q9GZU2 PEG3 S547 ochoa Paternally-expressed gene 3 protein (Zinc finger and SCAN domain-containing protein 24) Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells. {ECO:0000250, ECO:0000269|PubMed:11260267}.
Q9H093 NUAK2 S462 ochoa NUAK family SNF1-like kinase 2 (EC 2.7.11.1) (Omphalocele kinase 2) (SNF1/AMP kinase-related kinase) (SNARK) Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Phosphorylates LATS1 and LATS2. Plays a key role in neural tube closure during embryonic development through LATS2 phosphorylation and regulation of the nuclear localization of YAP1 a critical downstream regulatory target in the Hippo signaling pathway (PubMed:32845958). {ECO:0000269|PubMed:14575707, ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15345718, ECO:0000269|PubMed:19927127, ECO:0000269|PubMed:32845958}.
Q9H1A4 ANAPC1 S1347 ochoa Anaphase-promoting complex subunit 1 (APC1) (Cyclosome subunit 1) (Mitotic checkpoint regulator) (Testis-specific gene 24 protein) Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle (PubMed:18485873). The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). The APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). {ECO:0000269|PubMed:18485873, ECO:0000269|PubMed:29033132}.
Q9H1H9 KIF13A S1679 ochoa Kinesin-like protein KIF13A (Kinesin-like protein RBKIN) Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abscission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis. {ECO:0000269|PubMed:19841138, ECO:0000269|PubMed:20208530}.
Q9H2M9 RAB3GAP2 S450 ochoa Rab3 GTPase-activating protein non-catalytic subunit (RGAP-iso) (Rab3 GTPase-activating protein 150 kDa subunit) (Rab3-GAP p150) (Rab3-GAP150) (Rab3-GAP regulatory subunit) Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:24891604, PubMed:9733780). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP (By similarity). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones (By similarity). The Rab3GAP complex acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604). Recruits and stabilizes RAB18 at the cis-Golgi membrane in human fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (By similarity). May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity). {ECO:0000250|UniProtKB:Q15042, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829, ECO:0000269|PubMed:9733780}.
Q9H2Y7 ZNF106 S400 ochoa Zinc finger protein 106 (Zfp-106) (Zinc finger protein 474) RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism. {ECO:0000250|UniProtKB:O88466}.
Q9H501 ESF1 S442 ochoa ESF1 homolog (ABT1-associated protein) May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity). {ECO:0000250}.
Q9H582 ZNF644 S1000 ochoa Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2) May be involved in transcriptional regulation.
Q9H5H4 ZNF768 S160 ochoa Zinc finger protein 768 Binds to mammalian-wide interspersed repeat (MIRs) sequences in euchromatin and promoter regions of genes at the consensus sequence 5'-GCTGTGTG-[N20]-CCTCTCTG-3', consisting of two anchor regions connected by a linker region; the linker region probably does not contribute to the binding specificity (PubMed:30476274). Required for cell homeostasis (PubMed:34404770). May be involved in transcriptional regulation (Probable). {ECO:0000269|PubMed:30476274, ECO:0000269|PubMed:34404770, ECO:0000305}.
Q9H6R4 NOL6 S811 ochoa Nucleolar protein 6 (Nucleolar RNA-associated protein) (Nrap) Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. {ECO:0000269|PubMed:11895476, ECO:0000269|PubMed:34516797}.
Q9H6X4 TMEM134 S70 ochoa Transmembrane protein 134 None
Q9H8Y5 ANKZF1 S56 ochoa tRNA endonuclease ANKZF1 (EC 3.1.-.-) (Ankyrin repeat and zinc finger domain-containing protein 1) (Zinc finger protein 744) Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation (PubMed:29632312, PubMed:30244831, PubMed:31011209). The RQC pathway disassembles aberrantly stalled translation complexes to recycle or degrade the constituent parts (PubMed:29632312, PubMed:30244831, PubMed:31011209). ANKZF1 acts downstream disassembly of stalled ribosomes and specifically cleaves off the terminal 3'-CCA nucleotides universal to all tRNAs from polypeptidyl-tRNAs, releasing (1) ubiquitinated polypeptides from 60S ribosomal subunit for degradation and (2) cleaved tRNAs (PubMed:31011209). ANKZF1-cleaved tRNAs are then repaired and recycled by ELAC1 and TRNT1 (PubMed:31011209, PubMed:32075755). Also plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). {ECO:0000269|PubMed:28302725, ECO:0000269|PubMed:29632312, ECO:0000269|PubMed:30244831, ECO:0000269|PubMed:31011209, ECO:0000269|PubMed:32075755}.
Q9H9C1 VIPAS39 S156 ochoa Spermatogenesis-defective protein 39 homolog (hSPE-39) (VPS33B-interacting protein in apical-basolateral polarity regulator) (VPS33B-interacting protein in polarity and apical restriction) Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity). {ECO:0000250|UniProtKB:Q23288, ECO:0000269|PubMed:19109425, ECO:0000269|PubMed:20190753}.
Q9HCE9 ANO8 S669 ochoa Anoctamin-8 (Transmembrane protein 16H) Does not exhibit calcium-activated chloride channel (CaCC) activity.
Q9HCS5 EPB41L4A S389 ochoa Band 4.1-like protein 4A (Erythrocyte membrane protein band 4.1-like 4A) (Protein NBL4) None
Q9HCS5 EPB41L4A S426 ochoa Band 4.1-like protein 4A (Erythrocyte membrane protein band 4.1-like 4A) (Protein NBL4) None
Q9NP87 POLM S372 ochoa|psp DNA-directed DNA/RNA polymerase mu (Pol Mu) (EC 2.7.7.7) (Terminal transferase) Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. {ECO:0000269|PubMed:12640116, ECO:0000269|PubMed:12888504, ECO:0000269|PubMed:17483519, ECO:0000269|PubMed:17915942}.
Q9NQ66 PLCB1 S308 ochoa 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (EC 3.1.4.11) (PLC-154) (Phosphoinositide phospholipase C-beta-1) (Phospholipase C-I) (PLC-I) (Phospholipase C-beta-1) (PLC-beta-1) Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier. {ECO:0000250|UniProtKB:Q9Z1B3, ECO:0000269|PubMed:9188725}.
Q9NQ66 PLCB1 S582 ochoa 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (EC 3.1.4.11) (PLC-154) (Phosphoinositide phospholipase C-beta-1) (Phospholipase C-I) (PLC-I) (Phospholipase C-beta-1) (PLC-beta-1) Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier. {ECO:0000250|UniProtKB:Q9Z1B3, ECO:0000269|PubMed:9188725}.
Q9NQW6 ANLN S518 ochoa Anillin Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636). {ECO:0000269|PubMed:10931866, ECO:0000269|PubMed:12479805, ECO:0000269|PubMed:15496454, ECO:0000269|PubMed:16040610, ECO:0000269|PubMed:16357138, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:24676636}.
Q9NR45 NANS S275 ochoa N-acetylneuraminate-9-phosphate synthase (EC 2.5.1.57) (3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase) (EC 2.5.1.132) (N-acetylneuraminic acid phosphate synthase) (NANS) (Sialic acid phosphate synthase) (Sialic acid synthase) Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phosphate (Man-6-P) to produce 3-deoxy-D-glycero-beta-D-galacto-non-2-ulopyranosonate 9-phosphate (KDN-9-P) (PubMed:10749855). Neu5Ac-9-P and KDN-9-P are the phosphorylated forms of sialic acids N-acetylneuraminic acid (Neu5Ac) and deaminoneuraminic acid (KDN), respectively (PubMed:10749855). Required for brain and skeletal development (PubMed:27213289). {ECO:0000269|PubMed:10749855, ECO:0000269|PubMed:27213289}.
Q9NRH2 SNRK S518 ochoa SNF-related serine/threonine-protein kinase (EC 2.7.11.1) (SNF1-related kinase) May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis. {ECO:0000250|UniProtKB:Q63553, ECO:0000269|PubMed:12234663, ECO:0000269|PubMed:15733851}.
Q9NRY5 FAM114A2 S146 ochoa Protein FAM114A2 None
Q9NSI6 BRWD1 S649 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NSI6 BRWD1 S1374 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NVN8 GNL3L S465 ochoa Guanine nucleotide-binding protein-like 3-like protein Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal processing of ribosomal pre-rRNA. Binds GTP. {ECO:0000269|PubMed:16251348, ECO:0000269|PubMed:17034816, ECO:0000269|PubMed:19487455, ECO:0000269|PubMed:21132010}.
Q9NW68 BSDC1 S166 ochoa BSD domain-containing protein 1 None
Q9NWK9 ZNHIT6 S25 ochoa Box C/D snoRNA protein 1 (Serologically defined breast cancer antigen NY-BR-75) (Zinc finger HIT domain-containing protein 6) Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. {ECO:0000269|PubMed:17636026}.
Q9NWQ4 GPATCH2L S31 ochoa G patch domain-containing protein 2-like None
Q9UDY2 TJP2 S266 ochoa Tight junction protein 2 (Tight junction protein ZO-2) (Zona occludens protein 2) (Zonula occludens protein 2) Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity). {ECO:0000250|UniProtKB:Q9Z0U1}.
Q9UFD9 RIMBP3 S1322 ochoa RIMS-binding protein 3A (RIM-BP3.A) (RIMS-binding protein 3.1) (RIM-BP3.1) Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. {ECO:0000250|UniProtKB:Q3V0F0}.
Q9UGU5 HMGXB4 S197 ochoa HMG domain-containing protein 4 (HMG box-containing protein 4) (High mobility group protein 2-like 1) (Protein HMGBCG) Negatively regulates Wnt/beta-catenin signaling during development. {ECO:0000250}.
Q9UHI6 DDX20 S714 ochoa Probable ATP-dependent RNA helicase DDX20 (EC 3.6.1.15) (EC 3.6.4.13) (Component of gems 3) (DEAD box protein 20) (DEAD box protein DP 103) (Gemin-3) The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate. Binding of snRNA inside 5Sm triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs). {ECO:0000269|PubMed:18984161}.
Q9ULE3 DENND2A S404 ochoa DENN domain-containing protein 2A Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport. {ECO:0000269|PubMed:20937701}.
Q9UPN3 MACF1 S3298 ochoa Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha) [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). {ECO:0000250|UniProtKB:Q9QXZ0, ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:27693509}.
Q9UPN3 MACF1 S3331 ochoa Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha) [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). {ECO:0000250|UniProtKB:Q9QXZ0, ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:27693509}.
Q9UQB3 CTNND2 S415 ochoa Catenin delta-2 (Delta-catenin) (GT24) (Neural plakophilin-related ARM-repeat protein) (NPRAP) (Neurojungin) Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules. {ECO:0000250|UniProtKB:O35927, ECO:0000269|PubMed:25807484, ECO:0000269|PubMed:9971746}.
Q9Y2H0 DLGAP4 S384 ochoa Disks large-associated protein 4 (DAP-4) (PSD-95/SAP90-binding protein 4) (SAP90/PSD-95-associated protein 4) (SAPAP-4) May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
Q9Y4J8 DTNA S662 ochoa Dystrobrevin alpha (DTN-A) (Alpha-dystrobrevin) (Dystrophin-related protein 3) May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
P10696 ALPG S435 Sugiyama Alkaline phosphatase, germ cell type (EC 3.1.3.1) (ALP-1) (Alkaline phosphatase Nagao isozyme) (Alkaline phosphatase, placental-like) (Germ cell alkaline phosphatase) (GCAP) (Placental alkaline phosphatase-like) (PLAP-like) Alkaline phosphatase that can hydrolyze various phosphate compounds. {ECO:0000269|PubMed:1939159}.
P31152 MAPK4 S196 GPS6|ELM|iPTMNet|EPSD Mitogen-activated protein kinase 4 (MAP kinase 4) (MAPK 4) (EC 2.7.11.24) (Extracellular signal-regulated kinase 4) (ERK-4) (MAP kinase isoform p63) (p63-MAPK) Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity). {ECO:0000250}.
O60282 KIF5C S176 SIGNOR Kinesin heavy chain isoform 5C (EC 3.6.4.-) (Kinesin heavy chain neuron-specific 2) (Kinesin-1) Microtubule-associated force-producing protein that may play a role in organelle transport. Has ATPase activity (By similarity). Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). {ECO:0000250|UniProtKB:P28738, ECO:0000250|UniProtKB:P56536, ECO:0000269|PubMed:24812067}.
Q13464 ROCK1 S242 Sugiyama Rho-associated protein kinase 1 (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-35) (Rho-associated, coiled-coil-containing protein kinase 1) (Rho-associated, coiled-coil-containing protein kinase I) (ROCK-I) (p160 ROCK-1) (p160ROCK) Protein kinase which is a key regulator of the actin cytoskeleton and cell polarity (PubMed:10436159, PubMed:10652353, PubMed:11018042, PubMed:11283607, PubMed:17158456, PubMed:18573880, PubMed:19131646, PubMed:8617235, PubMed:9722579). Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, TPPP, PFN1 and PPP1R12A (PubMed:10436159, PubMed:10652353, PubMed:11018042, PubMed:11283607, PubMed:17158456, PubMed:18573880, PubMed:19131646, PubMed:23093407, PubMed:23355470, PubMed:8617235, PubMed:9722579). Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing (PubMed:18694941). Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress (PubMed:19036714). Acts as a suppressor of inflammatory cell migration by regulating PTEN phosphorylation and stability (By similarity). Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation (PubMed:19181962). Required for centrosome positioning and centrosome-dependent exit from mitosis (By similarity). Plays a role in terminal erythroid differentiation (PubMed:21072057). Inhibits podocyte motility via regulation of actin cytoskeletal dynamics and phosphorylation of CFL1 (By similarity). Promotes keratinocyte terminal differentiation (PubMed:19997641). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). May regulate closure of the eyelids and ventral body wall by inducing the assembly of actomyosin bundles (By similarity). {ECO:0000250|UniProtKB:P70335, ECO:0000250|UniProtKB:Q8MIT6, ECO:0000269|PubMed:10436159, ECO:0000269|PubMed:10652353, ECO:0000269|PubMed:11018042, ECO:0000269|PubMed:11283607, ECO:0000269|PubMed:17158456, ECO:0000269|PubMed:18573880, ECO:0000269|PubMed:18694941, ECO:0000269|PubMed:19036714, ECO:0000269|PubMed:19131646, ECO:0000269|PubMed:19181962, ECO:0000269|PubMed:19997641, ECO:0000269|PubMed:21072057, ECO:0000269|PubMed:23093407, ECO:0000269|PubMed:23355470, ECO:0000269|PubMed:8617235, ECO:0000269|PubMed:9722579}.
Download
reactome_id name p -log10_p
R-HSA-9820865 Z-decay: degradation of maternal mRNAs by zygotically expressed factors 0.000192 3.717
R-HSA-9709603 Impaired BRCA2 binding to PALB2 0.000148 3.831
R-HSA-9701193 Defective homologous recombination repair (HRR) due to PALB2 loss of function 0.000184 3.736
R-HSA-9701192 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 0.000184 3.736
R-HSA-9704646 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.000184 3.736
R-HSA-9704331 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.000184 3.736
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SD... 0.000568 3.245
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes 0.000567 3.246
R-HSA-9675136 Diseases of DNA Double-Strand Break Repair 0.002330 2.633
R-HSA-5693532 DNA Double-Strand Break Repair 0.001551 2.809
R-HSA-5693537 Resolution of D-Loop Structures 0.002064 2.685
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates 0.001820 2.740
R-HSA-5693571 Nonhomologous End-Joining (NHEJ) 0.002497 2.603
R-HSA-9701190 Defective homologous recombination repair (HRR) due to BRCA2 loss of function 0.002330 2.633
R-HSA-69620 Cell Cycle Checkpoints 0.002014 2.696
R-HSA-9675135 Diseases of DNA repair 0.002043 2.690
R-HSA-5693607 Processing of DNA double-strand break ends 0.002689 2.570
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange 0.003664 2.436
R-HSA-9701898 STAT3 nuclear events downstream of ALK signaling 0.003531 2.452
R-HSA-201556 Signaling by ALK 0.004071 2.390
R-HSA-5693538 Homology Directed Repair 0.004170 2.380
R-HSA-111885 Opioid Signalling 0.004615 2.336
R-HSA-3700989 Transcriptional Regulation by TP53 0.004808 2.318
R-HSA-9709570 Impaired BRCA2 binding to RAD51 0.005864 2.232
R-HSA-5633007 Regulation of TP53 Activity 0.005757 2.240
R-HSA-69473 G2/M DNA damage checkpoint 0.005593 2.252
R-HSA-69481 G2/M Checkpoints 0.007040 2.152
R-HSA-6804754 Regulation of TP53 Expression 0.007561 2.121
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) 0.008479 2.072
R-HSA-5685938 HDR through Single Strand Annealing (SSA) 0.009089 2.041
R-HSA-9819196 Zygotic genome activation (ZGA) 0.010403 1.983
R-HSA-8866906 TFAP2 (AP-2) family regulates transcription of other transcription factors 0.011568 1.937
R-HSA-9636249 Inhibition of nitric oxide production 0.011568 1.937
R-HSA-112040 G-protein mediated events 0.011583 1.936
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange 0.012191 1.914
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation 0.012754 1.894
R-HSA-400451 Free fatty acids regulate insulin secretion 0.014951 1.825
R-HSA-9816359 Maternal to zygotic transition (MZT) 0.014451 1.840
R-HSA-2644607 Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling 0.016311 1.788
R-HSA-2644605 FBXW7 Mutants and NOTCH1 in Cancer 0.016311 1.788
R-HSA-429947 Deadenylation of mRNA 0.016705 1.777
R-HSA-9705677 SARS-CoV-2 targets PDZ proteins in cell-cell junction 0.016311 1.788
R-HSA-3247509 Chromatin modifying enzymes 0.019163 1.718
R-HSA-445095 Interaction between L1 and Ankyrins 0.022718 1.644
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at... 0.022389 1.650
R-HSA-6807878 COPI-mediated anterograde transport 0.023898 1.622
R-HSA-8856688 Golgi-to-ER retrograde transport 0.023116 1.636
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic 0.023898 1.622
R-HSA-111957 Cam-PDE 1 activation 0.027809 1.556
R-HSA-9708530 Regulation of BACH1 activity 0.027388 1.562
R-HSA-3214847 HATs acetylate histones 0.027507 1.561
R-HSA-112043 PLC beta mediated events 0.025355 1.596
R-HSA-9700649 Drug resistance of ALK mutants 0.031597 1.500
R-HSA-9717329 lorlatinib-resistant ALK mutants 0.031597 1.500
R-HSA-5467343 Deletions in the AMER1 gene destabilize the destruction complex 0.031597 1.500
R-HSA-9717316 alectinib-resistant ALK mutants 0.031597 1.500
R-HSA-9717301 NVP-TAE684-resistant ALK mutants 0.031597 1.500
R-HSA-9717326 crizotinib-resistant ALK mutants 0.031597 1.500
R-HSA-9717323 ceritinib-resistant ALK mutants 0.031597 1.500
R-HSA-9717319 brigatinib-resistant ALK mutants 0.031597 1.500
R-HSA-9717264 ASP-3026-resistant ALK mutants 0.031597 1.500
R-HSA-4839726 Chromatin organization 0.029673 1.528
R-HSA-8857538 PTK6 promotes HIF1A stabilization 0.034470 1.463
R-HSA-5693606 DNA Double Strand Break Response 0.035785 1.446
R-HSA-5685942 HDR through Homologous Recombination (HRR) 0.035785 1.446
R-HSA-434313 Intracellular metabolism of fatty acids regulates insulin secretion 0.034470 1.463
R-HSA-73894 DNA Repair 0.040858 1.389
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription 0.038330 1.416
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol 0.038269 1.417
R-HSA-5545483 Defective Mismatch Repair Associated With MLH1 0.062197 1.206
R-HSA-9692912 SARS-CoV-1 targets PDZ proteins in cell-cell junction 0.062197 1.206
R-HSA-5632987 Defective Mismatch Repair Associated With PMS2 0.062197 1.206
R-HSA-9663199 Defective DNA double strand break response due to BRCA1 loss of function 0.062197 1.206
R-HSA-9699150 Defective DNA double strand break response due to BARD1 loss of function 0.062197 1.206
R-HSA-176034 Interactions of Tat with host cellular proteins 0.091832 1.037
R-HSA-9845622 Defective VWF binding to collagen type I 0.091832 1.037
R-HSA-9845619 Enhanced cleavage of VWF variant by ADAMTS13 0.120533 0.919
R-HSA-9845621 Defective VWF cleavage by ADAMTS13 variant 0.120533 0.919
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins 0.148328 0.829
R-HSA-1251932 PLCG1 events in ERBB2 signaling 0.175247 0.756
R-HSA-9652169 Signaling by MAP2K mutants 0.175247 0.756
R-HSA-9846298 Defective binding of VWF variant to GPIb:IX:V 0.201316 0.696
R-HSA-9845620 Enhanced binding of GP1BA variant to VWF multimer:collagen 0.201316 0.696
R-HSA-4839748 Signaling by AMER1 mutants 0.084601 1.073
R-HSA-9823587 Defects of platelet adhesion to exposed collagen 0.226562 0.645
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavage 0.226562 0.645
R-HSA-8985586 SLIT2:ROBO1 increases RHOA activity 0.226562 0.645
R-HSA-5638302 Signaling by Overexpressed Wild-Type EGFR in Cancer 0.226562 0.645
R-HSA-5638303 Inhibition of Signaling by Overexpressed EGFR 0.226562 0.645
R-HSA-9022537 Loss of MECP2 binding ability to the NCoR/SMRT complex 0.226562 0.645
R-HSA-5685939 HDR through MMEJ (alt-NHEJ) 0.104321 0.982
R-HSA-179409 APC-Cdc20 mediated degradation of Nek2A 0.052406 1.281
R-HSA-9645135 STAT5 Activation 0.251013 0.600
R-HSA-9027283 Erythropoietin activates STAT5 0.251013 0.600
R-HSA-113507 E2F-enabled inhibition of pre-replication complex formation 0.251013 0.600
R-HSA-428890 Role of ABL in ROBO-SLIT signaling 0.274691 0.561
R-HSA-141430 Inactivation of APC/C via direct inhibition of the APC/C complex 0.146823 0.833
R-HSA-212718 EGFR interacts with phospholipase C-gamma 0.297623 0.526
R-HSA-196025 Formation of annular gap junctions 0.297623 0.526
R-HSA-9768778 Regulation of NPAS4 mRNA translation 0.297623 0.526
R-HSA-418217 G beta:gamma signalling through PLC beta 0.169203 0.772
R-HSA-170984 ARMS-mediated activation 0.319831 0.495
R-HSA-190873 Gap junction degradation 0.319831 0.495
R-HSA-201688 WNT mediated activation of DVL 0.319831 0.495
R-HSA-9700645 ALK mutants bind TKIs 0.319831 0.495
R-HSA-110056 MAPK3 (ERK1) activation 0.341338 0.467
R-HSA-9027277 Erythropoietin activates Phospholipase C gamma (PLCG) 0.341338 0.467
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor 0.215375 0.667
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 0.362166 0.441
R-HSA-9759811 Regulation of CDH11 mRNA translation by microRNAs 0.362166 0.441
R-HSA-5467340 AXIN missense mutants destabilize the destruction complex 0.362166 0.441
R-HSA-5467337 APC truncation mutants have impaired AXIN binding 0.362166 0.441
R-HSA-5467348 Truncations of AMER1 destabilize the destruction complex 0.362166 0.441
R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor 0.382337 0.418
R-HSA-428540 Activation of RAC1 0.382337 0.418
R-HSA-5339716 Signaling by GSK3beta mutants 0.382337 0.418
R-HSA-179419 APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of th... 0.135109 0.869
R-HSA-176409 APC/C:Cdc20 mediated degradation of mitotic proteins 0.146640 0.834
R-HSA-176814 Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins 0.152544 0.817
R-HSA-9027276 Erythropoietin activates Phosphoinositide-3-kinase (PI3K) 0.401871 0.396
R-HSA-4839743 Signaling by CTNNB1 phospho-site mutants 0.401871 0.396
R-HSA-5358747 CTNNB1 S33 mutants aren't phosphorylated 0.401871 0.396
R-HSA-5358752 CTNNB1 T41 mutants aren't phosphorylated 0.401871 0.396
R-HSA-5358749 CTNNB1 S37 mutants aren't phosphorylated 0.401871 0.396
R-HSA-5358751 CTNNB1 S45 mutants aren't phosphorylated 0.401871 0.396
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes 0.122157 0.913
R-HSA-3928663 EPHA-mediated growth cone collapse 0.286137 0.543
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery 0.286137 0.543
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation 0.286137 0.543
R-HSA-380287 Centrosome maturation 0.131391 0.881
R-HSA-167287 HIV elongation arrest and recovery 0.297928 0.526
R-HSA-167290 Pausing and recovery of HIV elongation 0.297928 0.526
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF) 0.420788 0.376
R-HSA-9933947 Formation of the non-canonical BAF (ncBAF) complex 0.420788 0.376
R-HSA-9927432 Developmental Lineage of Mammary Gland Myoepithelial Cells 0.309689 0.509
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centr... 0.196179 0.707
R-HSA-380259 Loss of Nlp from mitotic centrosomes 0.196179 0.707
R-HSA-9933939 Formation of the polybromo-BAF (pBAF) complex 0.439109 0.357
R-HSA-9933937 Formation of the canonical BAF (cBAF) complex 0.439109 0.357
R-HSA-8847993 ERBB2 Activates PTK6 Signaling 0.439109 0.357
R-HSA-8854518 AURKA Activation by TPX2 0.215941 0.666
R-HSA-141424 Amplification of signal from the kinetochores 0.187274 0.728
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory si... 0.187274 0.728
R-HSA-8948700 Competing endogenous RNAs (ceRNAs) regulate PTEN translation 0.456851 0.340
R-HSA-9027284 Erythropoietin activates RAS 0.456851 0.340
R-HSA-9933946 Formation of the embryonic stem cell BAF (esBAF) complex 0.456851 0.340
R-HSA-170670 Adenylate cyclase inhibitory pathway 0.456851 0.340
R-HSA-180336 SHC1 events in EGFR signaling 0.456851 0.340
R-HSA-196299 Beta-catenin phosphorylation cascade 0.456851 0.340
R-HSA-73780 RNA Polymerase III Chain Elongation 0.456851 0.340
R-HSA-6785631 ERBB2 Regulates Cell Motility 0.456851 0.340
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes 0.203821 0.691
R-HSA-174184 Cdc20:Phospho-APC/C mediated degradation of Cyclin A 0.303360 0.518
R-HSA-112382 Formation of RNA Pol II elongation complex 0.303360 0.518
R-HSA-5696394 DNA Damage Recognition in GG-NER 0.367706 0.434
R-HSA-390522 Striated Muscle Contraction 0.367706 0.434
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins 0.474032 0.324
R-HSA-176412 Phosphorylation of the APC/C 0.474032 0.324
R-HSA-9687136 Aberrant regulation of mitotic exit in cancer due to RB1 defects 0.474032 0.324
R-HSA-72649 Translation initiation complex formation 0.320763 0.494
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly 0.390400 0.408
R-HSA-372708 p130Cas linkage to MAPK signaling for integrins 0.506785 0.295
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat 0.434633 0.362
R-HSA-73980 RNA Polymerase III Transcription Termination 0.522390 0.282
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript 0.445422 0.351
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat 0.445422 0.351
R-HSA-174048 APC/C:Cdc20 mediated degradation of Cyclin B 0.537503 0.270
R-HSA-6802952 Signaling by BRAF and RAF1 fusions 0.415728 0.381
R-HSA-5674135 MAP2K and MAPK activation 0.466649 0.331
R-HSA-977444 GABA B receptor activation 0.477080 0.321
R-HSA-991365 Activation of GABAB receptors 0.477080 0.321
R-HSA-9909620 Regulation of PD-L1(CD274) translation 0.552138 0.258
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex 0.552138 0.258
R-HSA-9934037 Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) 0.552138 0.258
R-HSA-72163 mRNA Splicing - Major Pathway 0.377081 0.424
R-HSA-174084 Autodegradation of Cdh1 by Cdh1:APC/C 0.517529 0.286
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation 0.580035 0.237
R-HSA-174154 APC/C:Cdc20 mediated degradation of Securin 0.527312 0.278
R-HSA-68949 Orc1 removal from chromatin 0.574177 0.241
R-HSA-174178 APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins ... 0.583135 0.234
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants 0.566310 0.247
R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in Cancer 0.566310 0.247
R-HSA-5637810 Constitutive Signaling by EGFRvIII 0.506785 0.295
R-HSA-5637812 Signaling by EGFRvIII in Cancer 0.506785 0.295
R-HSA-72172 mRNA Splicing 0.430024 0.367
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA 0.491817 0.308
R-HSA-182971 EGFR downregulation 0.333079 0.477
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation 0.262049 0.582
R-HSA-5620912 Anchoring of the basal body to the plasma membrane 0.102337 0.990
R-HSA-177929 Signaling by EGFR 0.338174 0.471
R-HSA-75892 Platelet Adhesion to exposed collagen 0.104321 0.982
R-HSA-9665348 Signaling by ERBB2 ECD mutants 0.522390 0.282
R-HSA-9646399 Aggrephagy 0.445422 0.351
R-HSA-69618 Mitotic Spindle Checkpoint 0.150250 0.823
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol 0.158656 0.800
R-HSA-2243919 Crosslinking of collagen fibrils 0.537503 0.270
R-HSA-9627069 Regulation of the apoptosome activity 0.341338 0.467
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex 0.250684 0.601
R-HSA-111461 Cytochrome c-mediated apoptotic response 0.382337 0.418
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and sub... 0.355558 0.449
R-HSA-180292 GAB1 signalosome 0.522390 0.282
R-HSA-111458 Formation of apoptosome 0.341338 0.467
R-HSA-5696395 Formation of Incision Complex in GG-NER 0.445422 0.351
R-HSA-430116 GP1b-IX-V activation signalling 0.319831 0.495
R-HSA-5693548 Sensing of DNA Double Strand Breaks 0.382337 0.418
R-HSA-76009 Platelet Aggregation (Plug Formation) 0.507613 0.294
R-HSA-453276 Regulation of mitotic cell cycle 0.249978 0.602
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins 0.249978 0.602
R-HSA-450408 AUF1 (hnRNP D0) binds and destabilizes mRNA 0.161623 0.791
R-HSA-392170 ADP signalling through P2Y purinoceptor 12 0.566310 0.247
R-HSA-9851151 MDK and PTN in ALK signaling 0.175247 0.756
R-HSA-9609523 Insertion of tail-anchored proteins into the endoplasmic reticulum membrane 0.047669 1.322
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane 0.286137 0.543
R-HSA-9674555 Signaling by CSF3 (G-CSF) 0.309689 0.509
R-HSA-9656223 Signaling by RAF1 mutants 0.466649 0.331
R-HSA-9649948 Signaling downstream of RAS mutants 0.517529 0.286
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF 0.517529 0.286
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants 0.517529 0.286
R-HSA-9931509 Expression of BMAL (ARNTL), CLOCK, and NPAS2 0.185183 0.732
R-HSA-167172 Transcription of the HIV genome 0.440987 0.356
R-HSA-426496 Post-transcriptional silencing by small RNAs 0.201316 0.696
R-HSA-8849473 PTK6 Expression 0.274691 0.561
R-HSA-141405 Inhibition of the proteolytic activity of APC/C required for the onset of anapha... 0.146823 0.833
R-HSA-179812 GRB2 events in EGFR signaling 0.401871 0.396
R-HSA-9764562 Regulation of CDH1 mRNA translation by microRNAs 0.439109 0.357
R-HSA-9664420 Killing mechanisms 0.474032 0.324
R-HSA-9673324 WNT5:FZD7-mediated leishmania damping 0.474032 0.324
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants 0.412723 0.384
R-HSA-176407 Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase 0.506785 0.295
R-HSA-3928665 EPH-ephrin mediated repulsion of cells 0.527312 0.278
R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha 0.565081 0.248
R-HSA-156827 L13a-mediated translational silencing of Ceruloplasmin expression 0.537881 0.269
R-HSA-6802957 Oncogenic MAPK signaling 0.574273 0.241
R-HSA-3928664 Ephrin signaling 0.169203 0.772
R-HSA-75955 RNA Polymerase II Transcription Elongation 0.312059 0.506
R-HSA-2467813 Separation of Sister Chromatids 0.368393 0.434
R-HSA-9703465 Signaling by FLT3 fusion proteins 0.274325 0.562
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors 0.466649 0.331
R-HSA-9707616 Heme signaling 0.189720 0.722
R-HSA-9648025 EML4 and NUDC in mitotic spindle formation 0.196495 0.707
R-HSA-69052 Switching of origins to a post-replicative state 0.482094 0.317
R-HSA-674695 RNA Polymerase II Pre-transcription Events 0.270920 0.567
R-HSA-9820841 M-decay: degradation of maternal mRNAs by maternally stored factors 0.201359 0.696
R-HSA-4641258 Degradation of DVL 0.412723 0.384
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse 0.552138 0.258
R-HSA-195253 Degradation of beta-catenin by the destruction complex 0.457591 0.340
R-HSA-4791275 Signaling by WNT in cancer 0.344690 0.463
R-HSA-389977 Post-chaperonin tubulin folding pathway 0.552138 0.258
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation 0.267857 0.572
R-HSA-6802949 Signaling by RAS mutants 0.517529 0.286
R-HSA-9705462 Inactivation of CSF3 (G-CSF) signaling 0.580035 0.237
R-HSA-918233 TRAF3-dependent IRF activation pathway 0.490672 0.309
R-HSA-5689603 UCH proteinases 0.506060 0.296
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling 0.333079 0.477
R-HSA-167169 HIV Transcription Elongation 0.445422 0.351
R-HSA-5358508 Mismatch Repair 0.522390 0.282
R-HSA-169893 Prolonged ERK activation events 0.135880 0.867
R-HSA-6794361 Neurexins and neuroligins 0.129489 0.888
R-HSA-8951664 Neddylation 0.250243 0.602
R-HSA-9843745 Adipogenesis 0.509611 0.293
R-HSA-8985801 Regulation of cortical dendrite branching 0.120533 0.919
R-HSA-111446 Activation of BIM and translocation to mitochondria 0.148328 0.829
R-HSA-68689 CDC6 association with the ORC:origin complex 0.226562 0.645
R-HSA-1483101 Synthesis of PS 0.226562 0.645
R-HSA-2980767 Activation of NIMA Kinases NEK9, NEK6, NEK7 0.251013 0.600
R-HSA-1614603 Cysteine formation from homocysteine 0.274691 0.561
R-HSA-500657 Presynaptic function of Kainate receptors 0.169203 0.772
R-HSA-428543 Inactivation of CDC42 and RAC1 0.319831 0.495
R-HSA-176974 Unwinding of DNA 0.319831 0.495
R-HSA-2179392 EGFR Transactivation by Gastrin 0.341338 0.467
R-HSA-6803544 Ion influx/efflux at host-pathogen interface 0.341338 0.467
R-HSA-429914 Deadenylation-dependent mRNA decay 0.066913 1.174
R-HSA-4839744 Signaling by APC mutants 0.362166 0.441
R-HSA-110362 POLB-Dependent Long Patch Base Excision Repair 0.382337 0.418
R-HSA-4839735 Signaling by AXIN mutants 0.382337 0.418
R-HSA-380615 Serotonin clearance from the synaptic cleft 0.401871 0.396
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis 0.367706 0.434
R-HSA-1963640 GRB2 events in ERBB2 signaling 0.490672 0.309
R-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) 0.506785 0.295
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter 0.580035 0.237
R-HSA-156584 Cytosolic sulfonation of small molecules 0.565081 0.248
R-HSA-1433557 Signaling by SCF-KIT 0.487386 0.312
R-HSA-9613829 Chaperone Mediated Autophagy 0.522390 0.282
R-HSA-8868773 rRNA processing in the nucleus and cytosol 0.224967 0.648
R-HSA-69541 Stabilization of p53 0.434633 0.362
R-HSA-6806003 Regulation of TP53 Expression and Degradation 0.185183 0.732
R-HSA-2682334 EPH-Ephrin signaling 0.113459 0.945
R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) 0.506785 0.295
R-HSA-1963642 PI3K events in ERBB2 signaling 0.506785 0.295
R-HSA-111471 Apoptotic factor-mediated response 0.522390 0.282
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase 0.390113 0.409
R-HSA-912631 Regulation of signaling by CBL 0.537503 0.270
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition 0.176527 0.753
R-HSA-139915 Activation of PUMA and translocation to mitochondria 0.274691 0.561
R-HSA-70688 Proline catabolism 0.401871 0.396
R-HSA-68877 Mitotic Prometaphase 0.149037 0.827
R-HSA-156711 Polo-like kinase mediated events 0.522390 0.282
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium 0.552138 0.258
R-HSA-389513 Co-inhibition by CTLA4 0.552138 0.258
R-HSA-912446 Meiotic recombination 0.565081 0.248
R-HSA-6794362 Protein-protein interactions at synapses 0.349586 0.456
R-HSA-9682385 FLT3 signaling in disease 0.401611 0.396
R-HSA-442755 Activation of NMDA receptors and postsynaptic events 0.491178 0.309
R-HSA-1433559 Regulation of KIT signaling 0.439109 0.357
R-HSA-8849932 Synaptic adhesion-like molecules 0.522390 0.282
R-HSA-9913351 Formation of the dystrophin-glycoprotein complex (DGC) 0.333079 0.477
R-HSA-9754189 Germ layer formation at gastrulation 0.537503 0.270
R-HSA-9022692 Regulation of MECP2 expression and activity 0.131805 0.880
R-HSA-983189 Kinesins 0.070281 1.153
R-HSA-8863795 Downregulation of ERBB2 signaling 0.321409 0.493
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants 0.522390 0.282
R-HSA-5687128 MAPK6/MAPK4 signaling 0.181871 0.740
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission 0.468290 0.329
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers 0.146723 0.834
R-HSA-5423599 Diseases of Mismatch Repair (MMR) 0.148328 0.829
R-HSA-5626978 TNFR1-mediated ceramide production 0.175247 0.756
R-HSA-111464 SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes 0.201316 0.696
R-HSA-5674499 Negative feedback regulation of MAPK pathway 0.226562 0.645
R-HSA-195399 VEGF binds to VEGFR leading to receptor dimerization 0.226562 0.645
R-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion 0.135880 0.867
R-HSA-9840373 Cellular response to mitochondrial stress 0.319831 0.495
R-HSA-9619229 Activation of RAC1 downstream of NMDARs 0.319831 0.495
R-HSA-9623433 NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis 0.382337 0.418
R-HSA-418359 Reduction of cytosolic Ca++ levels 0.382337 0.418
R-HSA-420029 Tight junction interactions 0.262503 0.581
R-HSA-9604323 Negative regulation of NOTCH4 signaling 0.193228 0.714
R-HSA-5689901 Metalloprotease DUBs 0.274325 0.562
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation 0.439109 0.357
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly 0.522390 0.282
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPK 0.537503 0.270
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease 0.537503 0.270
R-HSA-6807004 Negative regulation of MET activity 0.552138 0.258
R-HSA-5619507 Activation of HOX genes during differentiation 0.317278 0.499
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogen... 0.317278 0.499
R-HSA-5617833 Cilium Assembly 0.506983 0.295
R-HSA-72312 rRNA processing 0.420204 0.377
R-HSA-69580 p53-Dependent G1/S DNA damage checkpoint 0.546471 0.262
R-HSA-69563 p53-Dependent G1 DNA Damage Response 0.546471 0.262
R-HSA-2559585 Oncogene Induced Senescence 0.390400 0.408
R-HSA-187687 Signalling to ERKs 0.390400 0.408
R-HSA-9700206 Signaling by ALK in cancer 0.092065 1.036
R-HSA-170968 Frs2-mediated activation 0.420788 0.376
R-HSA-2500257 Resolution of Sister Chromatid Cohesion 0.436451 0.360
R-HSA-69615 G1/S DNA Damage Checkpoints 0.398685 0.399
R-HSA-9854311 Maturation of TCA enzymes and regulation of TCA cycle 0.445422 0.351
R-HSA-69278 Cell Cycle, Mitotic 0.517884 0.286
R-HSA-1640170 Cell Cycle 0.048421 1.315
R-HSA-69239 Synthesis of DNA 0.531339 0.275
R-HSA-5683057 MAPK family signaling cascades 0.398922 0.399
R-HSA-399997 Acetylcholine regulates insulin secretion 0.146823 0.833
R-HSA-9032500 Activated NTRK2 signals through FYN 0.297623 0.526
R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in ... 0.227106 0.644
R-HSA-392154 Nitric oxide stimulates guanylate cyclase 0.309689 0.509
R-HSA-6803211 TP53 Regulates Transcription of Death Receptors and Ligands 0.439109 0.357
R-HSA-6804758 Regulation of TP53 Activity through Acetylation 0.356235 0.448
R-HSA-442742 CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling 0.356235 0.448
R-HSA-9702518 STAT5 activation downstream of FLT3 ITD mutants 0.490672 0.309
R-HSA-9929356 GSK3B-mediated proteasomal degradation of PD-L1(CD274) 0.434633 0.362
R-HSA-437239 Recycling pathway of L1 0.527312 0.278
R-HSA-69613 p53-Independent G1/S DNA Damage Checkpoint 0.507613 0.294
R-HSA-69601 Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A 0.507613 0.294
R-HSA-3928662 EPHB-mediated forward signaling 0.234608 0.630
R-HSA-453279 Mitotic G1 phase and G1/S transition 0.430730 0.366
R-HSA-376176 Signaling by ROBO receptors 0.420405 0.376
R-HSA-422356 Regulation of insulin secretion 0.141650 0.849
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity 0.124681 0.904
R-HSA-983231 Factors involved in megakaryocyte development and platelet production 0.051703 1.286
R-HSA-3858494 Beta-catenin independent WNT signaling 0.368561 0.433
R-HSA-9707587 Regulation of HMOX1 expression and activity 0.175247 0.756
R-HSA-111463 SMAC (DIABLO) binds to IAPs 0.201316 0.696
R-HSA-194313 VEGF ligand-receptor interactions 0.226562 0.645
R-HSA-180024 DARPP-32 events 0.104207 0.982
R-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligand 0.319831 0.495
R-HSA-425381 Bicarbonate transporters 0.362166 0.441
R-HSA-9634638 Estrogen-dependent nuclear events downstream of ESR-membrane signaling 0.238881 0.622
R-HSA-2214320 Anchoring fibril formation 0.382337 0.418
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs 0.226199 0.646
R-HSA-418360 Platelet calcium homeostasis 0.309689 0.509
R-HSA-418457 cGMP effects 0.439109 0.357
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA 0.456851 0.340
R-HSA-1566977 Fibronectin matrix formation 0.490672 0.309
R-HSA-174437 Removal of the Flap Intermediate from the C-strand 0.506785 0.295
R-HSA-9725554 Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin 0.434633 0.362
R-HSA-163615 PKA activation 0.522390 0.282
R-HSA-9821002 Chromatin modifications during the maternal to zygotic transition (MZT) 0.456095 0.341
R-HSA-113510 E2F mediated regulation of DNA replication 0.537503 0.270
R-HSA-69275 G2/M Transition 0.338826 0.470
R-HSA-9617324 Negative regulation of NMDA receptor-mediated neuronal transmission 0.580035 0.237
R-HSA-9734779 Developmental Cell Lineages of the Integumentary System 0.537881 0.269
R-HSA-69206 G1/S Transition 0.467322 0.330
R-HSA-453274 Mitotic G2-G2/M phases 0.348345 0.458
R-HSA-422475 Axon guidance 0.104856 0.979
R-HSA-109606 Intrinsic Pathway for Apoptosis 0.338174 0.471
R-HSA-6804116 TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest 0.474032 0.324
R-HSA-936837 Ion transport by P-type ATPases 0.407225 0.390
R-HSA-373753 Nephrin family interactions 0.192104 0.716
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements 0.256921 0.590
R-HSA-8853884 Transcriptional Regulation by VENTX 0.456095 0.341
R-HSA-199991 Membrane Trafficking 0.398599 0.399
R-HSA-8848021 Signaling by PTK6 0.398685 0.399
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases 0.398685 0.399
R-HSA-9675108 Nervous system development 0.119123 0.924
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription 0.203702 0.691
R-HSA-9725370 Signaling by ALK fusions and activated point mutants 0.092065 1.036
R-HSA-176187 Activation of ATR in response to replication stress 0.356235 0.448
R-HSA-4086398 Ca2+ pathway 0.263903 0.579
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases 0.233100 0.632
R-HSA-69242 S Phase 0.441961 0.355
R-HSA-9671793 Diseases of hemostasis 0.537503 0.270
R-HSA-71403 Citric acid cycle (TCA cycle) 0.498134 0.303
R-HSA-9768727 Regulation of CDH1 posttranslational processing and trafficking to plasma membra... 0.367706 0.434
R-HSA-9680350 Signaling by CSF1 (M-CSF) in myeloid cells 0.379097 0.421
R-HSA-3000171 Non-integrin membrane-ECM interactions 0.498134 0.303
R-HSA-9827857 Specification of primordial germ cells 0.157938 0.802
R-HSA-9607240 FLT3 Signaling 0.456095 0.341
R-HSA-8853659 RET signaling 0.401611 0.396
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic 0.171296 0.766
R-HSA-5688426 Deubiquitination 0.389889 0.409
R-HSA-199977 ER to Golgi Anterograde Transport 0.088179 1.055
R-HSA-9909396 Circadian clock 0.340354 0.468
R-HSA-9825895 Regulation of MITF-M-dependent genes involved in DNA replication, damage repair ... 0.049399 1.306
R-HSA-111469 SMAC, XIAP-regulated apoptotic response 0.226562 0.645
R-HSA-164944 Nef and signal transduction 0.251013 0.600
R-HSA-9772755 Formation of WDR5-containing histone-modifying complexes 0.153984 0.813
R-HSA-9005891 Loss of function of MECP2 in Rett syndrome 0.401871 0.396
R-HSA-9697154 Disorders of Nervous System Development 0.401871 0.396
R-HSA-9005895 Pervasive developmental disorders 0.401871 0.396
R-HSA-9013694 Signaling by NOTCH4 0.126735 0.897
R-HSA-416482 G alpha (12/13) signalling events 0.145808 0.836
R-HSA-419408 Lysosphingolipid and LPA receptors 0.456851 0.340
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA 0.474032 0.324
R-HSA-9733458 Induction of Cell-Cell Fusion 0.474032 0.324
R-HSA-114604 GPVI-mediated activation cascade 0.401611 0.396
R-HSA-139853 Elevation of cytosolic Ca2+ levels 0.506785 0.295
R-HSA-9913635 Strand-asynchronous mitochondrial DNA replication 0.537503 0.270
R-HSA-9824594 Regulation of MITF-M-dependent genes involved in apoptosis 0.566310 0.247
R-HSA-194138 Signaling by VEGF 0.467322 0.330
R-HSA-1266695 Interleukin-7 signaling 0.262503 0.581
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes 0.346872 0.460
R-HSA-9609507 Protein localization 0.311978 0.506
R-HSA-373760 L1CAM interactions 0.061387 1.212
R-HSA-1483249 Inositol phosphate metabolism 0.367460 0.435
R-HSA-445144 Signal transduction by L1 0.192104 0.716
R-HSA-9768759 Regulation of NPAS4 gene expression 0.506785 0.295
R-HSA-1489509 DAG and IP3 signaling 0.093109 1.031
R-HSA-5675221 Negative regulation of MAPK pathway 0.466649 0.331
R-HSA-5689877 Josephin domain DUBs 0.341338 0.467
R-HSA-451326 Activation of kainate receptors upon glutamate binding 0.297928 0.526
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA 0.456851 0.340
R-HSA-9675151 Disorders of Developmental Biology 0.490672 0.309
R-HSA-9909505 Modulation of host responses by IFN-stimulated genes 0.506785 0.295
R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis 0.552138 0.258
R-HSA-114452 Activation of BH3-only proteins 0.321409 0.493
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signaling 0.477080 0.321
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry 0.473983 0.324
R-HSA-389661 Glyoxylate metabolism and glycine degradation 0.546471 0.262
R-HSA-157118 Signaling by NOTCH 0.218589 0.660
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer 0.152544 0.817
R-HSA-1980143 Signaling by NOTCH1 0.136122 0.866
R-HSA-9659379 Sensory processing of sound 0.306426 0.514
R-HSA-9033241 Peroxisomal protein import 0.364229 0.439
R-HSA-8948751 Regulation of PTEN stability and activity 0.583135 0.234
R-HSA-69202 Cyclin E associated events during G1/S transition 0.457591 0.340
R-HSA-109581 Apoptosis 0.358055 0.446
R-HSA-73893 DNA Damage Bypass 0.546471 0.262
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins 0.226562 0.645
R-HSA-210990 PECAM1 interactions 0.362166 0.441
R-HSA-69205 G1/S-Specific Transcription 0.161623 0.791
R-HSA-193648 NRAGE signals death through JNK 0.152544 0.817
R-HSA-525793 Myogenesis 0.274325 0.562
R-HSA-9662360 Sensory processing of sound by inner hair cells of the cochlea 0.229407 0.639
R-HSA-392517 Rap1 signalling 0.537503 0.270
R-HSA-198753 ERK/MAPK targets 0.566310 0.247
R-HSA-2161541 Abacavir metabolism 0.566310 0.247
R-HSA-111931 PKA-mediated phosphorylation of CREB 0.566310 0.247
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs 0.581482 0.235
R-HSA-163685 Integration of energy metabolism 0.368561 0.433
R-HSA-397795 G-protein beta:gamma signalling 0.356235 0.448
R-HSA-948021 Transport to the Golgi and subsequent modification 0.282596 0.549
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis 0.504730 0.297
R-HSA-111933 Calmodulin induced events 0.161623 0.791
R-HSA-8986944 Transcriptional Regulation by MECP2 0.220834 0.656
R-HSA-418346 Platelet homeostasis 0.524752 0.280
R-HSA-9755511 KEAP1-NFE2L2 pathway 0.180452 0.744
R-HSA-71384 Ethanol oxidation 0.062529 1.204
R-HSA-111997 CaM pathway 0.161623 0.791
R-HSA-9662361 Sensory processing of sound by outer hair cells of the cochlea 0.152544 0.817
R-HSA-6790901 rRNA modification in the nucleus and cytosol 0.196179 0.707
R-HSA-5684264 MAP3K8 (TPL2)-dependent MAPK1/3 activation 0.439109 0.357
R-HSA-399955 SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion 0.474032 0.324
R-HSA-1362300 Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL... 0.474032 0.324
R-HSA-1912420 Pre-NOTCH Processing in Golgi 0.537503 0.270
R-HSA-1169408 ISG15 antiviral mechanism 0.498134 0.303
R-HSA-5357801 Programmed Cell Death 0.434827 0.362
R-HSA-75105 Fatty acyl-CoA biosynthesis 0.457591 0.340
R-HSA-3214842 HDMs demethylate histones 0.079258 1.101
R-HSA-9637687 Suppression of phagosomal maturation 0.274325 0.562
R-HSA-8983432 Interleukin-15 signaling 0.401871 0.396
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptor... 0.146823 0.833
R-HSA-9662834 CD163 mediating an anti-inflammatory response 0.362166 0.441
R-HSA-198323 AKT phosphorylates targets in the cytosol 0.401871 0.396
R-HSA-111996 Ca-dependent events 0.217851 0.662
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian expression 0.379097 0.421
R-HSA-9031628 NGF-stimulated transcription 0.536960 0.270
R-HSA-9818027 NFE2L2 regulating anti-oxidant/detoxification enzymes 0.367706 0.434
R-HSA-9711123 Cellular response to chemical stress 0.445320 0.351
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins 0.297623 0.526
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors 0.420788 0.376
R-HSA-170834 Signaling by TGF-beta Receptor Complex 0.268082 0.572
R-HSA-2028269 Signaling by Hippo 0.506785 0.295
R-HSA-210991 Basigin interactions 0.566310 0.247
R-HSA-9692916 SARS-CoV-1 activates/modulates innate immune responses 0.574177 0.241
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 0.372881 0.428
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants 0.372881 0.428
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer 0.372881 0.428
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer 0.372881 0.428
R-HSA-9006936 Signaling by TGFB family members 0.508167 0.294
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors 0.088366 1.054
R-HSA-5365859 RA biosynthesis pathway 0.379097 0.421
R-HSA-9634815 Transcriptional Regulation by NPAS4 0.303360 0.518
R-HSA-8940973 RUNX2 regulates osteoblast differentiation 0.297928 0.526
R-HSA-9706369 Negative regulation of FLT3 0.474032 0.324
R-HSA-6804760 Regulation of TP53 Activity through Methylation 0.522390 0.282
R-HSA-111465 Apoptotic cleavage of cellular proteins 0.124681 0.904
R-HSA-9022699 MECP2 regulates neuronal receptors and channels 0.274325 0.562
R-HSA-2644603 Signaling by NOTCH1 in Cancer 0.372881 0.428
R-HSA-9008059 Interleukin-37 signaling 0.321409 0.493
R-HSA-165159 MTOR signalling 0.477080 0.321
R-HSA-9637690 Response of Mtb to phagocytosis 0.487386 0.312
R-HSA-8941326 RUNX2 regulates bone development 0.401611 0.396
R-HSA-8953750 Transcriptional Regulation by E2F6 0.434633 0.362
R-HSA-264876 Insulin processing 0.091375 1.039
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE 0.263903 0.579
R-HSA-9768919 NPAS4 regulates expression of target genes 0.379097 0.421
R-HSA-75153 Apoptotic execution phase 0.251583 0.599
R-HSA-5210891 Uptake and function of anthrax toxins 0.506785 0.295
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling 0.367478 0.435
R-HSA-2132295 MHC class II antigen presentation 0.155321 0.809
R-HSA-73887 Death Receptor Signaling 0.475362 0.323
R-HSA-193704 p75 NTR receptor-mediated signalling 0.470570 0.327
R-HSA-6807505 RNA polymerase II transcribes snRNA genes 0.588614 0.230
R-HSA-8856828 Clathrin-mediated endocytosis 0.589644 0.229
R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6 0.591953 0.228
R-HSA-9670439 Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT m... 0.593327 0.227
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter 0.593327 0.227
R-HSA-350054 Notch-HLH transcription pathway 0.593327 0.227
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter 0.593327 0.227
R-HSA-112409 RAF-independent MAPK1/3 activation 0.593327 0.227
R-HSA-9669938 Signaling by KIT in disease 0.593327 0.227
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus 0.593327 0.227
R-HSA-166208 mTORC1-mediated signalling 0.593327 0.227
R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specif... 0.593327 0.227
R-HSA-2173788 Downregulation of TGF-beta receptor signaling 0.593327 0.227
R-HSA-4420097 VEGFA-VEGFR2 Pathway 0.594567 0.226
R-HSA-438064 Post NMDA receptor activation events 0.595668 0.225
R-HSA-72737 Cap-dependent Translation Initiation 0.600607 0.221
R-HSA-72613 Eukaryotic Translation Initiation 0.600607 0.221
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic 0.600631 0.221
R-HSA-9753281 Paracetamol ADME 0.600631 0.221
R-HSA-8943723 Regulation of PTEN mRNA translation 0.606198 0.217
R-HSA-912526 Interleukin receptor SHC signaling 0.606198 0.217
R-HSA-9830674 Formation of the ureteric bud 0.606198 0.217
R-HSA-9648895 Response of EIF2AK1 (HRI) to heme deficiency 0.606198 0.217
R-HSA-982772 Growth hormone receptor signaling 0.606198 0.217
R-HSA-3000170 Syndecan interactions 0.606198 0.217
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer 0.606198 0.217
R-HSA-164952 The role of Nef in HIV-1 replication and disease pathogenesis 0.606198 0.217
R-HSA-72702 Ribosomal scanning and start codon recognition 0.609169 0.215
R-HSA-5578775 Ion homeostasis 0.609169 0.215
R-HSA-75893 TNF signaling 0.609169 0.215
R-HSA-212436 Generic Transcription Pathway 0.609620 0.215
R-HSA-2219528 PI3K/AKT Signaling in Cancer 0.612522 0.213
R-HSA-9006925 Intracellular signaling by second messengers 0.614024 0.212
R-HSA-2559583 Cellular Senescence 0.615916 0.210
R-HSA-166520 Signaling by NTRKs 0.616439 0.210
R-HSA-2980766 Nuclear Envelope Breakdown 0.617568 0.209
R-HSA-8878166 Transcriptional regulation by RUNX2 0.618397 0.209
R-HSA-9665686 Signaling by ERBB2 TMD/JMD mutants 0.618663 0.209
R-HSA-933542 TRAF6 mediated NF-kB activation 0.618663 0.209
R-HSA-9703648 Signaling by FLT3 ITD and TKD mutants 0.618663 0.209
R-HSA-5621575 CD209 (DC-SIGN) signaling 0.618663 0.209
R-HSA-9029569 NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflu... 0.625828 0.204
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 0.629737 0.201
R-HSA-9932444 ATP-dependent chromatin remodelers 0.630735 0.200
R-HSA-9932451 SWI/SNF chromatin remodelers 0.630735 0.200
R-HSA-1296041 Activation of G protein gated Potassium channels 0.630735 0.200
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits 0.630735 0.200
R-HSA-1296059 G protein gated Potassium channels 0.630735 0.200
R-HSA-9839394 TGFBR3 expression 0.630735 0.200
R-HSA-9620244 Long-term potentiation 0.630735 0.200
R-HSA-400685 Sema4D in semaphorin signaling 0.630735 0.200
R-HSA-1482801 Acyl chain remodelling of PS 0.630735 0.200
R-HSA-5218921 VEGFR2 mediated cell proliferation 0.630735 0.200
R-HSA-68882 Mitotic Anaphase 0.633856 0.198
R-HSA-191859 snRNP Assembly 0.633948 0.198
R-HSA-194441 Metabolism of non-coding RNA 0.633948 0.198
R-HSA-180786 Extension of Telomeres 0.633948 0.198
R-HSA-391251 Protein folding 0.636308 0.196
R-HSA-73857 RNA Polymerase II Transcription 0.636380 0.196
R-HSA-2555396 Mitotic Metaphase and Anaphase 0.638190 0.195
R-HSA-977443 GABA receptor activation 0.641931 0.193
R-HSA-1227986 Signaling by ERBB2 0.641931 0.193
R-HSA-5362517 Signaling by Retinoic Acid 0.641931 0.193
R-HSA-69306 DNA Replication 0.642180 0.192
R-HSA-1643713 Signaling by EGFR in Cancer 0.642424 0.192
R-HSA-8934593 Regulation of RUNX1 Expression and Activity 0.642424 0.192
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion 0.642424 0.192
R-HSA-9615933 Postmitotic nuclear pore complex (NPC) reformation 0.642424 0.192
R-HSA-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathway 0.642424 0.192
R-HSA-8874081 MET activates PTK2 signaling 0.642424 0.192
R-HSA-70635 Urea cycle 0.642424 0.192
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathway 0.642424 0.192
R-HSA-2161522 Abacavir ADME 0.642424 0.192
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol 0.642424 0.192
R-HSA-68867 Assembly of the pre-replicative complex 0.642797 0.192
R-HSA-68886 M Phase 0.643102 0.192
R-HSA-983169 Class I MHC mediated antigen processing & presentation 0.646418 0.189
R-HSA-162909 Host Interactions of HIV factors 0.646923 0.189
R-HSA-9917777 Epigenetic regulation by WDR5-containing histone modifying complexes 0.647197 0.189
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer 0.649204 0.188
R-HSA-8939902 Regulation of RUNX2 expression and activity 0.649775 0.187
R-HSA-450294 MAP kinase activation 0.649775 0.187
R-HSA-1989781 PPARA activates gene expression 0.652170 0.186
R-HSA-174414 Processive synthesis on the C-strand of the telomere 0.653745 0.185
R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release 0.653745 0.185
R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes 0.653745 0.185
R-HSA-9006115 Signaling by NTRK2 (TRKB) 0.653745 0.185
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence 0.657482 0.182
R-HSA-375165 NCAM signaling for neurite out-growth 0.657482 0.182
R-HSA-1660499 Synthesis of PIPs at the plasma membrane 0.657482 0.182
R-HSA-5673001 RAF/MAP kinase cascade 0.660312 0.180
R-HSA-9954709 Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide 0.661773 0.179
R-HSA-400206 Regulation of lipid metabolism by PPARalpha 0.661982 0.179
R-HSA-171319 Telomere Extension By Telomerase 0.664707 0.177
R-HSA-380994 ATF4 activates genes in response to endoplasmic reticulum stress 0.664707 0.177
R-HSA-373755 Semaphorin interactions 0.665054 0.177
R-HSA-114608 Platelet degranulation 0.668707 0.175
R-HSA-187037 Signaling by NTRK1 (TRKA) 0.674006 0.171
R-HSA-9006335 Signaling by Erythropoietin 0.675324 0.170
R-HSA-9615710 Late endosomal microautophagy 0.675324 0.170
R-HSA-9664565 Signaling by ERBB2 KD Mutants 0.675324 0.170
R-HSA-5334118 DNA methylation 0.675324 0.170
R-HSA-9759475 Regulation of CDH11 Expression and Function 0.675324 0.170
R-HSA-450282 MAPK targets/ Nuclear events mediated by MAP kinases 0.675324 0.170
R-HSA-1234174 Cellular response to hypoxia 0.679791 0.168
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulati... 0.679791 0.168
R-HSA-449147 Signaling by Interleukins 0.682926 0.166
R-HSA-5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC... 0.685604 0.164
R-HSA-68962 Activation of the pre-replicative complex 0.685604 0.164
R-HSA-1250196 SHC1 events in ERBB2 signaling 0.685604 0.164
R-HSA-1227990 Signaling by ERBB2 in Cancer 0.685604 0.164
R-HSA-76046 RNA Polymerase III Transcription Initiation 0.685604 0.164
R-HSA-9933387 RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression 0.685604 0.164
R-HSA-9687139 Aberrant regulation of mitotic cell cycle due to RB1 defects 0.685604 0.164
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK 0.685604 0.164
R-HSA-112311 Neurotransmitter clearance 0.685604 0.164
R-HSA-5684996 MAPK1/MAPK3 signaling 0.685642 0.164
R-HSA-162582 Signal Transduction 0.685797 0.164
R-HSA-1474165 Reproduction 0.689552 0.161
R-HSA-1855196 IP3 and IP4 transport between cytosol and nucleus 0.695560 0.158
R-HSA-1855229 IP6 and IP7 transport between cytosol and nucleus 0.695560 0.158
R-HSA-211733 Regulation of activated PAK-2p34 by proteasome mediated degradation 0.695560 0.158
R-HSA-9820960 Respiratory syncytial virus (RSV) attachment and entry 0.695560 0.158
R-HSA-9833109 Evasion by RSV of host interferon responses 0.695560 0.158
R-HSA-186763 Downstream signal transduction 0.695560 0.158
R-HSA-9009391 Extra-nuclear estrogen signaling 0.697506 0.156
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet fun... 0.700900 0.154
R-HSA-2559580 Oxidative Stress Induced Senescence 0.703175 0.153
R-HSA-76005 Response to elevated platelet cytosolic Ca2+ 0.704565 0.152
R-HSA-1538133 G0 and Early G1 0.705201 0.152
R-HSA-1296065 Inwardly rectifying K+ channels 0.705201 0.152
R-HSA-350562 Regulation of ornithine decarboxylase (ODC) 0.705201 0.152
R-HSA-9675126 Diseases of mitotic cell cycle 0.705201 0.152
R-HSA-69190 DNA strand elongation 0.705201 0.152
R-HSA-8953854 Metabolism of RNA 0.714026 0.146
R-HSA-9860931 Response of endothelial cells to shear stress 0.714269 0.146
R-HSA-9840310 Glycosphingolipid catabolism 0.714322 0.146
R-HSA-448424 Interleukin-17 signaling 0.714322 0.146
R-HSA-1855170 IPs transport between nucleus and cytosol 0.714538 0.146
R-HSA-159227 Transport of the SLBP independent Mature mRNA 0.714538 0.146
R-HSA-354192 Integrin signaling 0.714538 0.146
R-HSA-9930044 Nuclear RNA decay 0.714538 0.146
R-HSA-68616 Assembly of the ORC complex at the origin of replication 0.714538 0.146
R-HSA-1839124 FGFR1 mutant receptor activation 0.714538 0.146
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not kno... 0.714538 0.146
R-HSA-9764260 Regulation of Expression and Function of Type II Classical Cadherins 0.714538 0.146
R-HSA-5675482 Regulation of necroptotic cell death 0.714538 0.146
R-HSA-9833110 RSV-host interactions 0.719695 0.143
R-HSA-5632684 Hedgehog 'on' state 0.720841 0.142
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA 0.723579 0.141
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein 0.723579 0.141
R-HSA-114508 Effects of PIP2 hydrolysis 0.723579 0.141
R-HSA-1482788 Acyl chain remodelling of PC 0.723579 0.141
R-HSA-180534 Vpu mediated degradation of CD4 0.723579 0.141
R-HSA-9619665 EGR2 and SOX10-mediated initiation of Schwann cell myelination 0.723579 0.141
R-HSA-5696398 Nucleotide Excision Repair 0.725041 0.140
R-HSA-5653656 Vesicle-mediated transport 0.726265 0.139
R-HSA-5578749 Transcriptional regulation by small RNAs 0.727235 0.138
R-HSA-9924644 Developmental Lineages of the Mammary Gland 0.727235 0.138
R-HSA-198725 Nuclear Events (kinase and transcription factor activation) 0.727235 0.138
R-HSA-76002 Platelet activation, signaling and aggregation 0.727340 0.138
R-HSA-9820952 Respiratory Syncytial Virus Infection Pathway 0.728408 0.138
R-HSA-9692914 SARS-CoV-1-host interactions 0.730306 0.136
R-HSA-5696400 Dual Incision in GG-NER 0.732334 0.135
R-HSA-180746 Nuclear import of Rev protein 0.732334 0.135
R-HSA-349425 Autodegradation of the E3 ubiquitin ligase COP1 0.732334 0.135
R-HSA-75815 Ubiquitin-dependent degradation of Cyclin D 0.732334 0.135
R-HSA-392518 Signal amplification 0.732334 0.135
R-HSA-5673000 RAF activation 0.732334 0.135
R-HSA-168638 NOD1/2 Signaling Pathway 0.732334 0.135
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript 0.733504 0.135
R-HSA-5689880 Ub-specific processing proteases 0.737978 0.132
R-HSA-1236394 Signaling by ERBB4 0.739651 0.131
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit 0.740600 0.130
R-HSA-8854050 FBXL7 down-regulates AURKA during mitotic entry and in early mitosis 0.740813 0.130
R-HSA-174113 SCF-beta-TrCP mediated degradation of Emi1 0.740813 0.130
R-HSA-9860927 Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZ... 0.740813 0.130
R-HSA-1482839 Acyl chain remodelling of PE 0.740813 0.130
R-HSA-169911 Regulation of Apoptosis 0.740813 0.130
R-HSA-2408508 Metabolism of ingested SeMet, Sec, MeSec into H2Se 0.740813 0.130
R-HSA-381042 PERK regulates gene expression 0.740813 0.130
R-HSA-109582 Hemostasis 0.744889 0.128
R-HSA-69002 DNA Replication Pre-Initiation 0.745629 0.127
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation 0.749024 0.126
R-HSA-74158 RNA Polymerase III Transcription 0.749024 0.126
R-HSA-432720 Lysosome Vesicle Biogenesis 0.749024 0.126
R-HSA-6804757 Regulation of TP53 Degradation 0.749024 0.126
R-HSA-180585 Vif-mediated degradation of APOBEC3G 0.749024 0.126
R-HSA-9020591 Interleukin-12 signaling 0.751581 0.124
R-HSA-162599 Late Phase of HIV Life Cycle 0.755087 0.122
R-HSA-933541 TRAF6 mediated IRF7 activation 0.756975 0.121
R-HSA-180910 Vpr-mediated nuclear import of PICs 0.756975 0.121
R-HSA-4641257 Degradation of AXIN 0.756975 0.121
R-HSA-9762114 GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 0.756975 0.121
R-HSA-549127 SLC-mediated transport of organic cations 0.756975 0.121
R-HSA-390247 Beta-oxidation of very long chain fatty acids 0.756975 0.121
R-HSA-5689896 Ovarian tumor domain proteases 0.756975 0.121
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription 0.756975 0.121
R-HSA-8948216 Collagen chain trimerization 0.756975 0.121
R-HSA-9024446 NR1H2 and NR1H3-mediated signaling 0.757368 0.121
R-HSA-927802 Nonsense-Mediated Decay (NMD) 0.760249 0.119
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) 0.760249 0.119
R-HSA-74160 Gene expression (Transcription) 0.761855 0.118
R-HSA-383280 Nuclear Receptor transcription pathway 0.763038 0.117
R-HSA-4086400 PCP/CE pathway 0.763038 0.117
R-HSA-1852241 Organelle biogenesis and maintenance 0.763294 0.117
R-HSA-165054 Rev-mediated nuclear export of HIV RNA 0.764674 0.117
R-HSA-5213460 RIPK1-mediated regulated necrosis 0.764674 0.117
R-HSA-8875878 MET promotes cell motility 0.764674 0.117
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism 0.764674 0.117
R-HSA-9958790 SLC-mediated transport of inorganic anions 0.764674 0.117
R-HSA-9855142 Cellular responses to mechanical stimuli 0.769614 0.114
R-HSA-112315 Transmission across Chemical Synapses 0.771973 0.112
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript 0.772130 0.112
R-HSA-168276 NS1 Mediated Effects on Host Pathways 0.772130 0.112
R-HSA-1236978 Cross-presentation of soluble exogenous antigens (endosomes) 0.772130 0.112
R-HSA-9856530 High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR... 0.774034 0.111
R-HSA-6806834 Signaling by MET 0.774034 0.111
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-l... 0.774183 0.111
R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts 0.779351 0.108
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening 0.779351 0.108
R-HSA-177243 Interactions of Rev with host cellular proteins 0.779351 0.108
R-HSA-176033 Interactions of Vpr with host cellular proteins 0.779351 0.108
R-HSA-1251985 Nuclear signaling by ERBB4 0.779351 0.108
R-HSA-8941858 Regulation of RUNX3 expression and activity 0.779351 0.108
R-HSA-451927 Interleukin-2 family signaling 0.779351 0.108
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis 0.779363 0.108
R-HSA-72202 Transport of Mature Transcript to Cytoplasm 0.784582 0.105
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus 0.786342 0.104
R-HSA-3214841 PKMTs methylate histone lysines 0.786342 0.104
R-HSA-5362768 Hh mutants are degraded by ERAD 0.786342 0.104
R-HSA-9929491 SPOP-mediated proteasomal degradation of PD-L1(CD274) 0.786342 0.104
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis 0.786342 0.104
R-HSA-73933 Resolution of Abasic Sites (AP sites) 0.786342 0.104
R-HSA-5676590 NIK-->noncanonical NF-kB signaling 0.786342 0.104
R-HSA-9856651 MITF-M-dependent gene expression 0.787461 0.104
R-HSA-9707564 Cytoprotection by HMOX1 0.789692 0.103
R-HSA-9007101 Rab regulation of trafficking 0.791723 0.101
R-HSA-2980736 Peptide hormone metabolism 0.791723 0.101
R-HSA-167161 HIV Transcription Initiation 0.793113 0.101
R-HSA-75953 RNA Polymerase II Transcription Initiation 0.793113 0.101
R-HSA-167162 RNA Polymerase II HIV Promoter Escape 0.793113 0.101
R-HSA-9932298 Degradation of CRY and PER proteins 0.793113 0.101
R-HSA-5610780 Degradation of GLI1 by the proteasome 0.793113 0.101
R-HSA-5610783 Degradation of GLI2 by the proteasome 0.793113 0.101
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome 0.793113 0.101
R-HSA-5655302 Signaling by FGFR1 in disease 0.793113 0.101
R-HSA-174417 Telomere C-strand (Lagging Strand) Synthesis 0.793113 0.101
R-HSA-189451 Heme biosynthesis 0.793113 0.101
R-HSA-3000480 Scavenging by Class A Receptors 0.793113 0.101
R-HSA-442660 SLC-mediated transport of neurotransmitters 0.793113 0.101
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) 0.794695 0.100
R-HSA-9010553 Regulation of expression of SLITs and ROBOs 0.794999 0.100
R-HSA-446652 Interleukin-1 family signaling 0.794999 0.100
R-HSA-983712 Ion channel transport 0.797371 0.098
R-HSA-1500620 Meiosis 0.799593 0.097
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion 0.799670 0.097
R-HSA-379716 Cytosolic tRNA aminoacylation 0.799670 0.097
R-HSA-195721 Signaling by WNT 0.800774 0.096
R-HSA-9909615 Regulation of PD-L1(CD274) Post-translational modification 0.804387 0.095
R-HSA-162906 HIV Infection 0.804406 0.095
R-HSA-73776 RNA Polymerase II Promoter Escape 0.806019 0.094
R-HSA-5387390 Hh mutants abrogate ligand secretion 0.806019 0.094
R-HSA-2173789 TGF-beta receptor signaling activates SMADs 0.806019 0.094
R-HSA-73886 Chromosome Maintenance 0.808116 0.093
R-HSA-9759194 Nuclear events mediated by NFE2L2 0.808116 0.093
R-HSA-1614635 Sulfur amino acid metabolism 0.809079 0.092
R-HSA-381038 XBP1(S) activates chaperone genes 0.809079 0.092
R-HSA-418594 G alpha (i) signalling events 0.810116 0.091
R-HSA-190828 Gap junction trafficking 0.812167 0.090
R-HSA-187577 SCF(Skp2)-mediated degradation of p27/p21 0.812167 0.090
R-HSA-3214858 RMTs methylate histone arginines 0.812167 0.090
R-HSA-9907900 Proteasome assembly 0.812167 0.090
R-HSA-373752 Netrin-1 signaling 0.812167 0.090
R-HSA-69236 G1 Phase 0.812167 0.090
R-HSA-69231 Cyclin D associated events in G1 0.812167 0.090
R-HSA-162587 HIV Life Cycle 0.812906 0.090
R-HSA-390466 Chaperonin-mediated protein folding 0.813671 0.090
R-HSA-447115 Interleukin-12 family signaling 0.813671 0.090
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 0.815896 0.088
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance 0.818121 0.087
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery 0.818121 0.087
R-HSA-774815 Nucleosome assembly 0.818121 0.087
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere 0.818121 0.087
R-HSA-1614558 Degradation of cysteine and homocysteine 0.818121 0.087
R-HSA-9824585 Regulation of MITF-M-dependent genes involved in pigmentation 0.818121 0.087
R-HSA-4608870 Asymmetric localization of PCP proteins 0.818121 0.087
R-HSA-6783310 Fanconi Anemia Pathway 0.818121 0.087
R-HSA-5678895 Defective CFTR causes cystic fibrosis 0.818121 0.087
R-HSA-5607761 Dectin-1 mediated noncanonical NF-kB signaling 0.818121 0.087
R-HSA-9660821 ADORA2B mediated anti-inflammatory cytokines production 0.818121 0.087
R-HSA-9824272 Somitogenesis 0.818121 0.087
R-HSA-9663891 Selective autophagy 0.818163 0.087
R-HSA-9609690 HCMV Early Events 0.819802 0.086
R-HSA-72165 mRNA Splicing - Minor Pathway 0.823887 0.084
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex 0.823887 0.084
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex 0.823887 0.084
R-HSA-168274 Export of Viral Ribonucleoproteins from Nucleus 0.823887 0.084
R-HSA-9839373 Signaling by TGFBR3 0.823887 0.084
R-HSA-5357905 Regulation of TNFR1 signaling 0.823887 0.084
R-HSA-202424 Downstream TCR signaling 0.826858 0.083
R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism 0.829470 0.081
R-HSA-8939211 ESR-mediated signaling 0.832877 0.079
R-HSA-5620924 Intraflagellar transport 0.834876 0.078
R-HSA-9634597 GPER1 signaling 0.834876 0.078
R-HSA-70263 Gluconeogenesis 0.834876 0.078
R-HSA-389356 Co-stimulation by CD28 0.834876 0.078
R-HSA-381070 IRE1alpha activates chaperones 0.835178 0.078
R-HSA-157858 Gap junction trafficking and regulation 0.840111 0.076
R-HSA-9766229 Degradation of CDH1 0.840111 0.076
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messenge... 0.843135 0.074
R-HSA-199418 Negative regulation of the PI3K/AKT network 0.844391 0.073
R-HSA-5658442 Regulation of RAS by GAPs 0.845181 0.073
R-HSA-109704 PI3K Cascade 0.845181 0.073
R-HSA-2162123 Synthesis of Prostaglandins (PG) and Thromboxanes (TX) 0.845181 0.073
R-HSA-1500931 Cell-Cell communication 0.845326 0.073
R-HSA-9837999 Mitochondrial protein degradation 0.846982 0.072
R-HSA-9658195 Leishmania infection 0.849676 0.071
R-HSA-9824443 Parasitic Infection Pathways 0.849676 0.071
R-HSA-1169091 Activation of NF-kappaB in B cells 0.850090 0.071
R-HSA-70895 Branched-chain amino acid catabolism 0.850090 0.071
R-HSA-5358346 Hedgehog ligand biogenesis 0.850090 0.071
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta 0.850743 0.070
R-HSA-2262752 Cellular responses to stress 0.853721 0.069
R-HSA-72689 Formation of a pool of free 40S subunits 0.854419 0.068
R-HSA-72187 mRNA 3'-end processing 0.854844 0.068
R-HSA-9931269 AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) 0.854844 0.068
R-HSA-5339562 Uptake and actions of bacterial toxins 0.854844 0.068
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization 0.858013 0.067
R-HSA-5389840 Mitochondrial translation elongation 0.858013 0.067
R-HSA-5607764 CLEC7A (Dectin-1) signaling 0.858013 0.067
R-HSA-418555 G alpha (s) signalling events 0.859065 0.066
R-HSA-1221632 Meiotic synapsis 0.859447 0.066
R-HSA-9639288 Amino acids regulate mTORC1 0.859447 0.066
R-HSA-445355 Smooth Muscle Contraction 0.859447 0.066
R-HSA-8956320 Nucleotide biosynthesis 0.859447 0.066
R-HSA-112316 Neuronal System 0.861326 0.065
R-HSA-157579 Telomere Maintenance 0.861525 0.065
R-HSA-9909648 Regulation of PD-L1(CD274) expression 0.861765 0.065
R-HSA-9754678 SARS-CoV-2 modulates host translation machinery 0.863905 0.064
R-HSA-9662851 Anti-inflammatory response favouring Leishmania parasite infection 0.864422 0.063
R-HSA-9664433 Leishmania parasite growth and survival 0.864422 0.063
R-HSA-9764265 Regulation of CDH1 Expression and Function 0.864422 0.063
R-HSA-9764274 Regulation of Expression and Function of Type I Classical Cadherins 0.864422 0.063
R-HSA-9609646 HCMV Infection 0.864818 0.063
R-HSA-8957275 Post-translational protein phosphorylation 0.864958 0.063
R-HSA-5368286 Mitochondrial translation initiation 0.864958 0.063
R-HSA-975871 MyD88 cascade initiated on plasma membrane 0.864958 0.063
R-HSA-168142 Toll Like Receptor 10 (TLR10) Cascade 0.864958 0.063
R-HSA-168176 Toll Like Receptor 5 (TLR5) Cascade 0.864958 0.063
R-HSA-397014 Muscle contraction 0.866004 0.062
R-HSA-9006931 Signaling by Nuclear Receptors 0.866507 0.062
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis 0.867034 0.062
R-HSA-421270 Cell-cell junction organization 0.867052 0.062
R-HSA-3214815 HDACs deacetylate histones 0.868222 0.061
R-HSA-418597 G alpha (z) signalling events 0.868222 0.061
R-HSA-9012852 Signaling by NOTCH3 0.868222 0.061
R-HSA-9018519 Estrogen-dependent gene expression 0.868986 0.061
R-HSA-5610787 Hedgehog 'off' state 0.871591 0.060
R-HSA-70171 Glycolysis 0.871591 0.060
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER 0.872401 0.059
R-HSA-3299685 Detoxification of Reactive Oxygen Species 0.872401 0.059
R-HSA-9948299 Ribosome-associated quality control 0.874573 0.058
R-HSA-9020702 Interleukin-1 signaling 0.874794 0.058
R-HSA-112399 IRS-mediated signalling 0.876449 0.057
R-HSA-5621480 Dectin-2 family 0.876449 0.057
R-HSA-9764561 Regulation of CDH1 Function 0.876449 0.057
R-HSA-6807070 PTEN Regulation 0.877287 0.057
R-HSA-381119 Unfolded Protein Response (UPR) 0.877287 0.057
R-HSA-1483255 PI Metabolism 0.877923 0.057
R-HSA-1257604 PIP3 activates AKT signaling 0.879281 0.056
R-HSA-9664407 Parasite infection 0.879948 0.056
R-HSA-9664422 FCGR3A-mediated phagocytosis 0.879948 0.056
R-HSA-9664417 Leishmania phagocytosis 0.879948 0.056
R-HSA-6782135 Dual incision in TC-NER 0.880368 0.055
R-HSA-9937383 Mitochondrial ribosome-associated quality control 0.880980 0.055
R-HSA-9633012 Response of EIF2AK4 (GCN2) to amino acid deficiency 0.883967 0.054
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures 0.884164 0.053
R-HSA-4085001 Sialic acid metabolism 0.884164 0.053
R-HSA-352230 Amino acid transport across the plasma membrane 0.884164 0.053
R-HSA-9845323 Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) 0.887839 0.052
R-HSA-351202 Metabolism of polyamines 0.887839 0.052
R-HSA-379724 tRNA Aminoacylation 0.887839 0.052
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade 0.889732 0.051
R-HSA-168325 Viral Messenger RNA Synthesis 0.891398 0.050
R-HSA-73856 RNA Polymerase II Transcription Termination 0.891398 0.050
R-HSA-1442490 Collagen degradation 0.891398 0.050
R-HSA-2428928 IRS-related events triggered by IGF1R 0.891398 0.050
R-HSA-9793380 Formation of paraxial mesoderm 0.891398 0.050
R-HSA-6784531 tRNA processing in the nucleus 0.894844 0.048
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint 0.894844 0.048
R-HSA-1268020 Mitochondrial protein import 0.894844 0.048
R-HSA-186797 Signaling by PDGF 0.894844 0.048
R-HSA-211000 Gene Silencing by RNA 0.895231 0.048
R-HSA-2672351 Stimuli-sensing channels 0.897884 0.047
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation 0.897884 0.047
R-HSA-6799198 Complex I biogenesis 0.898180 0.047
R-HSA-9705683 SARS-CoV-2-host interactions 0.899971 0.046
R-HSA-5419276 Mitochondrial translation termination 0.900474 0.046
R-HSA-975155 MyD88 dependent cascade initiated on endosome 0.900474 0.046
R-HSA-5690714 CD22 mediated BCR regulation 0.901412 0.045
R-HSA-2428924 IGF1R signaling cascade 0.901412 0.045
R-HSA-74751 Insulin receptor signalling cascade 0.901412 0.045
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signali... 0.901412 0.045
R-HSA-202403 TCR signaling 0.903003 0.044
R-HSA-937061 TRIF (TICAM1)-mediated TLR4 signaling 0.903003 0.044
R-HSA-166166 MyD88-independent TLR4 cascade 0.903003 0.044
R-HSA-446203 Asparagine N-linked glycosylation 0.903896 0.044
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) 0.904541 0.044
R-HSA-1266738 Developmental Biology 0.905492 0.043
R-HSA-9909649 Regulation of PD-L1(CD274) transcription 0.907570 0.042
R-HSA-1912422 Pre-NOTCH Expression and Processing 0.910235 0.041
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade 0.910235 0.041
R-HSA-9830369 Kidney development 0.910504 0.041
R-HSA-196807 Nicotinate metabolism 0.910504 0.041
R-HSA-9958863 SLC-mediated transport of amino acids 0.910504 0.041
R-HSA-1650814 Collagen biosynthesis and modifying enzymes 0.913345 0.039
R-HSA-5218859 Regulated Necrosis 0.913345 0.039
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of lig... 0.913345 0.039
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes 0.914134 0.039
R-HSA-9759476 Regulation of Homotypic Cell-Cell Adhesion 0.914460 0.039
R-HSA-8953897 Cellular responses to stimuli 0.914593 0.039
R-HSA-9925563 Developmental Lineage of Pancreatic Ductal Cells 0.916096 0.038
R-HSA-446728 Cell junction organization 0.916660 0.038
R-HSA-5628897 TP53 Regulates Metabolic Genes 0.916960 0.038
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade 0.916960 0.038
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR) 0.918759 0.037
R-HSA-204005 COPII-mediated vesicle transport 0.918759 0.037
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA 0.918759 0.037
R-HSA-1280218 Adaptive Immune System 0.918941 0.037
R-HSA-2871809 FCERI mediated Ca+2 mobilization 0.919094 0.037
R-HSA-389948 Co-inhibition by PD-1 0.921251 0.036
R-HSA-3000178 ECM proteoglycans 0.921339 0.036
R-HSA-5620920 Cargo trafficking to the periciliary membrane 0.921339 0.036
R-HSA-189445 Metabolism of porphyrins 0.921339 0.036
R-HSA-9711097 Cellular response to starvation 0.921620 0.035
R-HSA-983705 Signaling by the B Cell Receptor (BCR) 0.921620 0.035
R-HSA-70326 Glucose metabolism 0.923209 0.035
R-HSA-1592230 Mitochondrial biogenesis 0.923209 0.035
R-HSA-199992 trans-Golgi Network Vesicle Budding 0.923836 0.034
R-HSA-499943 Interconversion of nucleotide di- and triphosphates 0.923836 0.034
R-HSA-212165 Epigenetic regulation of gene expression 0.924077 0.034
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling 0.926023 0.033
R-HSA-166058 MyD88:MAL(TIRAP) cascade initiated on plasma membrane 0.927127 0.033
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade 0.927127 0.033
R-HSA-1226099 Signaling by FGFR in disease 0.928596 0.032
R-HSA-1222556 ROS and RNS production in phagocytes 0.928596 0.032
R-HSA-68875 Mitotic Prophase 0.929014 0.032
R-HSA-9635486 Infection with Mycobacterium tuberculosis 0.930855 0.031
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) 0.930864 0.031
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes 0.930864 0.031
R-HSA-8852135 Protein ubiquitination 0.930864 0.031
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade 0.932651 0.030
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade 0.932651 0.030
R-HSA-1660662 Glycosphingolipid metabolism 0.934403 0.029
R-HSA-5619084 ABC transporter disorders 0.937244 0.028
R-HSA-216083 Integrin cell surface interactions 0.937244 0.028
R-HSA-9841922 MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesi... 0.939403 0.027
R-HSA-9851695 Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes 0.939403 0.027
R-HSA-9818564 Epigenetic regulation of gene expression by MLL3 and MLL4 complexes 0.939403 0.027
R-HSA-9664323 FCGR3A-mediated IL10 synthesis 0.940988 0.026
R-HSA-2995410 Nuclear Envelope (NE) Reassembly 0.941167 0.026
R-HSA-9730414 MITF-M-regulated melanocyte development 0.941373 0.026
R-HSA-388841 Regulation of T cell activation by CD28 family 0.941687 0.026
R-HSA-977225 Amyloid fiber formation 0.943036 0.025
R-HSA-5621481 C-type lectin receptors (CLRs) 0.943361 0.025
R-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP) 0.944846 0.025
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway 0.946598 0.024
R-HSA-418990 Adherens junctions interactions 0.947342 0.023
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs 0.948295 0.023
R-HSA-390918 Peroxisomal lipid metabolism 0.948295 0.023
R-HSA-9678108 SARS-CoV-1 Infection 0.948459 0.023
R-HSA-9734767 Developmental Cell Lineages 0.949304 0.023
R-HSA-5576891 Cardiac conduction 0.949701 0.022
R-HSA-72766 Translation 0.952578 0.021
R-HSA-8878171 Transcriptional regulation by RUNX1 0.955746 0.020
R-HSA-156902 Peptide chain elongation 0.956005 0.020
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors) 0.956005 0.020
R-HSA-201681 TCF dependent signaling in response to WNT 0.957399 0.019
R-HSA-1236974 ER-Phagosome pathway 0.957404 0.019
R-HSA-73884 Base Excision Repair 0.958758 0.018
R-HSA-1280215 Cytokine Signaling in Immune system 0.959208 0.018
R-HSA-5368287 Mitochondrial translation 0.959426 0.018
R-HSA-5358351 Signaling by Hedgehog 0.959426 0.018
R-HSA-9954714 PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA 0.960069 0.018
R-HSA-1912408 Pre-NOTCH Transcription and Translation 0.960069 0.018
R-HSA-156842 Eukaryotic Translation Elongation 0.962567 0.017
R-HSA-74752 Signaling by Insulin receptor 0.962567 0.017
R-HSA-9772573 Late SARS-CoV-2 Infection Events 0.962567 0.017
R-HSA-1632852 Macroautophagy 0.962586 0.017
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation 0.962586 0.017
R-HSA-2029481 FCGR activation 0.963757 0.016
R-HSA-9705671 SARS-CoV-2 activates/modulates innate and adaptive immune responses 0.964561 0.016
R-HSA-1474290 Collagen formation 0.964910 0.016
R-HSA-9954716 ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ri... 0.966026 0.015
R-HSA-2871837 FCERI mediated NF-kB activation 0.966435 0.015
R-HSA-72764 Eukaryotic Translation Termination 0.967106 0.015
R-HSA-1296071 Potassium Channels 0.968152 0.014
R-HSA-8878159 Transcriptional regulation by RUNX3 0.969165 0.014
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade 0.969901 0.013
R-HSA-9758941 Gastrulation 0.970712 0.013
R-HSA-382556 ABC-family proteins mediated transport 0.972015 0.012
R-HSA-388396 GPCR downstream signalling 0.972596 0.012
R-HSA-2408557 Selenocysteine synthesis 0.972905 0.012
R-HSA-9842860 Regulation of endogenous retroelements 0.973767 0.012
R-HSA-3371453 Regulation of HSF1-mediated heat shock response 0.973767 0.012
R-HSA-1483206 Glycerophospholipid biosynthesis 0.973804 0.012
R-HSA-1483257 Phospholipid metabolism 0.973871 0.011
R-HSA-192823 Viral mRNA Translation 0.974602 0.011
R-HSA-168273 Influenza Viral RNA Transcription and Replication 0.975154 0.011
R-HSA-372790 Signaling by GPCR 0.975308 0.011
R-HSA-9612973 Autophagy 0.975829 0.011
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins 0.976192 0.010
R-HSA-9610379 HCMV Late Events 0.976485 0.010
R-HSA-877300 Interferon gamma signaling 0.977747 0.010
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane 0.978394 0.009
R-HSA-9694516 SARS-CoV-2 Infection 0.978706 0.009
R-HSA-1236975 Antigen processing-Cross presentation 0.979082 0.009
R-HSA-2408522 Selenoamino acid metabolism 0.980621 0.008
R-HSA-6803157 Antimicrobial peptides 0.981016 0.008
R-HSA-416476 G alpha (q) signalling events 0.981219 0.008
R-HSA-2871796 FCERI mediated MAPK activation 0.981621 0.008
R-HSA-9748784 Drug ADME 0.982411 0.008
R-HSA-2029485 Role of phospholipids in phagocytosis 0.984366 0.007
R-HSA-211945 Phase I - Functionalization of compounds 0.986462 0.006
R-HSA-3371556 Cellular response to heat stress 0.987126 0.006
R-HSA-611105 Respiratory electron transport 0.987246 0.006
R-HSA-168255 Influenza Infection 0.987599 0.005
R-HSA-6809371 Formation of the cornified envelope 0.988318 0.005
R-HSA-202733 Cell surface interactions at the vascular wall 0.989143 0.005
R-HSA-913531 Interferon Signaling 0.989762 0.004
R-HSA-168898 Toll-like Receptor Cascades 0.991160 0.004
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis 0.991272 0.004
R-HSA-1474228 Degradation of the extracellular matrix 0.991550 0.004
R-HSA-428157 Sphingolipid metabolism 0.993346 0.003
R-HSA-6798695 Neutrophil degranulation 0.994414 0.002
R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors 0.995582 0.002
R-HSA-9679191 Potential therapeutics for SARS 0.995582 0.002
R-HSA-9820448 Developmental Cell Lineages of the Exocrine Pancreas 0.995860 0.002
R-HSA-2142753 Arachidonate metabolism 0.995860 0.002
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, L... 0.996480 0.002
R-HSA-1428517 Aerobic respiration and respiratory electron transport 0.997086 0.001
R-HSA-5619102 SLC transporter disorders 0.997456 0.001
R-HSA-15869 Metabolism of nucleotides 0.997641 0.001
R-HSA-72306 tRNA processing 0.997766 0.001
R-HSA-156580 Phase II - Conjugation of compounds 0.997838 0.001
R-HSA-8978868 Fatty acid metabolism 0.998018 0.001
R-HSA-9679506 SARS-CoV Infections 0.998163 0.001
R-HSA-5619115 Disorders of transmembrane transporters 0.998288 0.001
R-HSA-597592 Post-translational protein modification 0.998429 0.001
R-HSA-375276 Peptide ligand-binding receptors 0.998672 0.001
R-HSA-9824446 Viral Infection Pathways 0.998686 0.001
R-HSA-1474244 Extracellular matrix organization 0.999113 0.000
R-HSA-425407 SLC-mediated transmembrane transport 0.999325 0.000
R-HSA-6805567 Keratinization 0.999329 0.000
R-HSA-71291 Metabolism of amino acids and derivatives 0.999545 0.000
R-HSA-211859 Biological oxidations 0.999590 0.000
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 0.999683 0.000
R-HSA-392499 Metabolism of proteins 0.999690 0.000
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors 0.999693 0.000
R-HSA-9824439 Bacterial Infection Pathways 0.999834 0.000
R-HSA-168256 Immune System 0.999881 0.000
R-HSA-5663205 Infectious disease 0.999957 0.000
R-HSA-373076 Class A/1 (Rhodopsin-like receptors) 0.999980 0.000
R-HSA-168249 Innate Immune System 0.999986 0.000
R-HSA-196854 Metabolism of vitamins and cofactors 0.999996 0.000
R-HSA-71387 Metabolism of carbohydrates and carbohydrate derivatives 0.999997 0.000
R-HSA-1643685 Disease 0.999997 0.000
R-HSA-382551 Transport of small molecules 0.999999 0.000
R-HSA-500792 GPCR ligand binding 1.000000 0.000
R-HSA-556833 Metabolism of lipids 1.000000 0.000
R-HSA-9709957 Sensory Perception 1.000000 0.000
R-HSA-1430728 Metabolism 1.000000 -0.000
Download
kinase JSD_mean pearson_surrounding kinase_max_IC_position max_position_JSD
CDK19CDK19 0.847 0.679 1 0.848
CDK17CDK17 0.845 0.700 1 0.893
CDK8CDK8 0.845 0.687 1 0.813
P38GP38G 0.844 0.714 1 0.901
CDK18CDK18 0.843 0.679 1 0.865
KISKIS 0.842 0.615 1 0.790
CDK16CDK16 0.838 0.672 1 0.882
JNK2JNK2 0.838 0.717 1 0.858
CDK3CDK3 0.838 0.620 1 0.887
P38DP38D 0.838 0.700 1 0.900
CDK13CDK13 0.836 0.677 1 0.839
CDK1CDK1 0.836 0.673 1 0.842
HIPK2HIPK2 0.835 0.619 1 0.846
CDK5CDK5 0.833 0.650 1 0.789
P38BP38B 0.833 0.689 1 0.828
ERK1ERK1 0.833 0.668 1 0.843
DYRK4DYRK4 0.833 0.650 1 0.855
CDK12CDK12 0.832 0.673 1 0.859
CDK7CDK7 0.831 0.653 1 0.817
DYRK2DYRK2 0.831 0.624 1 0.758
JNK3JNK3 0.830 0.709 1 0.833
CDK9CDK9 0.827 0.660 1 0.831
CDK14CDK14 0.825 0.652 1 0.825
P38AP38A 0.824 0.660 1 0.759
CDK10CDK10 0.822 0.613 1 0.841
ERK2ERK2 0.822 0.664 1 0.796
DYRK1BDYRK1B 0.822 0.608 1 0.812
CLK3CLK3 0.819 0.436 1 0.510
CDK4CDK4 0.818 0.657 1 0.867
CDK6CDK6 0.818 0.635 1 0.844
FAM20CFAM20C 0.817 0.484 2 0.932
HIPK1HIPK1 0.817 0.557 1 0.741
NLKNLK 0.816 0.572 1 0.548
HIPK4HIPK4 0.812 0.371 1 0.542
CDK2CDK2 0.812 0.521 1 0.719
HIPK3HIPK3 0.810 0.540 1 0.711
JNK1JNK1 0.809 0.634 1 0.860
DYRK1ADYRK1A 0.807 0.483 1 0.720
SRPK1SRPK1 0.805 0.279 -3 0.739
ERK5ERK5 0.804 0.303 1 0.463
DYRK3DYRK3 0.802 0.452 1 0.703
CLK2CLK2 0.798 0.354 -3 0.729
MTORMTOR 0.798 0.178 1 0.341
CLK1CLK1 0.796 0.327 -3 0.739
SRPK2SRPK2 0.794 0.221 -3 0.658
CLK4CLK4 0.792 0.308 -3 0.758
ICKICK 0.790 0.273 -3 0.842
ERK7ERK7 0.788 0.195 2 0.306
COTCOT 0.788 -0.077 2 0.522
PRP4PRP4 0.787 0.375 -3 0.789
CDKL5CDKL5 0.786 0.101 -3 0.795
CDKL1CDKL1 0.785 0.094 -3 0.805
PRPKPRPK 0.784 -0.047 -1 0.894
SRPK3SRPK3 0.783 0.192 -3 0.716
DSTYKDSTYK 0.783 -0.032 2 0.568
TBK1TBK1 0.782 -0.130 1 0.134
MAKMAK 0.782 0.390 -2 0.798
PDHK4PDHK4 0.780 -0.017 1 0.221
GCN2GCN2 0.780 -0.190 2 0.452
MOKMOK 0.780 0.366 1 0.631
ATRATR 0.779 -0.031 1 0.210
ULK2ULK2 0.779 -0.186 2 0.454
CAMK2GCAMK2G 0.778 -0.000 2 0.554
MOSMOS 0.778 -0.055 1 0.212
CDC7CDC7 0.778 -0.134 1 0.167
IKKEIKKE 0.778 -0.135 1 0.132
CAMK1BCAMK1B 0.776 -0.038 -3 0.878
BMPR2BMPR2 0.776 -0.098 -2 0.928
IKKBIKKB 0.775 -0.114 -2 0.820
MST4MST4 0.775 -0.063 2 0.483
PKN3PKN3 0.774 -0.059 -3 0.835
NEK6NEK6 0.774 -0.107 -2 0.893
RAF1RAF1 0.774 -0.173 1 0.153
PDHK1PDHK1 0.773 -0.143 1 0.198
WNK1WNK1 0.773 -0.090 -2 0.934
PRKD1PRKD1 0.773 -0.038 -3 0.831
MARK4MARK4 0.772 -0.027 4 0.878
DNAPKDNAPK 0.772 0.044 1 0.196
NUAK2NUAK2 0.772 -0.035 -3 0.840
PIM3PIM3 0.771 -0.067 -3 0.825
PKCDPKCD 0.771 -0.060 2 0.450
ULK1ULK1 0.771 -0.166 -3 0.883
NIKNIK 0.770 -0.099 -3 0.904
NDR2NDR2 0.770 -0.069 -3 0.835
NEK7NEK7 0.770 -0.172 -3 0.910
PINK1PINK1 0.769 0.160 1 0.374
CAMLCKCAMLCK 0.768 -0.028 -2 0.916
MLK1MLK1 0.768 -0.163 2 0.472
ATMATM 0.767 -0.008 1 0.176
IKKAIKKA 0.767 -0.046 -2 0.802
NDR1NDR1 0.767 -0.092 -3 0.834
SKMLCKSKMLCK 0.766 -0.041 -2 0.914
NIM1NIM1 0.766 -0.093 3 0.803
PRKD2PRKD2 0.766 -0.037 -3 0.761
IRE1IRE1 0.766 -0.134 1 0.157
CAMK2DCAMK2D 0.766 -0.022 -3 0.863
PIM1PIM1 0.766 -0.005 -3 0.766
WNK3WNK3 0.765 -0.201 1 0.156
PKN2PKN2 0.765 -0.112 -3 0.851
BCKDKBCKDK 0.765 -0.123 -1 0.836
IRE2IRE2 0.765 -0.108 2 0.434
HUNKHUNK 0.765 -0.175 2 0.454
CHAK2CHAK2 0.764 -0.116 -1 0.868
TGFBR2TGFBR2 0.764 -0.123 -2 0.824
RSK2RSK2 0.764 -0.039 -3 0.763
AMPKA1AMPKA1 0.764 -0.099 -3 0.859
TSSK2TSSK2 0.764 -0.083 -5 0.790
DAPK2DAPK2 0.763 -0.071 -3 0.889
MLK3MLK3 0.763 -0.098 2 0.429
P90RSKP90RSK 0.763 -0.048 -3 0.767
NEK9NEK9 0.762 -0.208 2 0.463
RIPK3RIPK3 0.762 -0.177 3 0.761
BMPR1BBMPR1B 0.761 -0.016 1 0.137
CAMK2BCAMK2B 0.761 0.043 2 0.600
MAPKAPK3MAPKAPK3 0.761 -0.079 -3 0.777
RSK3RSK3 0.761 -0.062 -3 0.762
TGFBR1TGFBR1 0.761 -0.006 -2 0.837
TSSK1TSSK1 0.761 -0.081 -3 0.876
MLK2MLK2 0.760 -0.176 2 0.467
GRK1GRK1 0.760 -0.030 -2 0.807
PKCAPKCA 0.760 -0.072 2 0.411
P70S6KBP70S6KB 0.759 -0.056 -3 0.798
LATS2LATS2 0.759 -0.068 -5 0.726
MASTLMASTL 0.759 -0.199 -2 0.873
AMPKA2AMPKA2 0.759 -0.083 -3 0.819
MAPKAPK2MAPKAPK2 0.758 -0.032 -3 0.712
PKCBPKCB 0.758 -0.082 2 0.416
PHKG1PHKG1 0.758 -0.118 -3 0.828
LATS1LATS1 0.758 0.047 -3 0.853
PKRPKR 0.758 -0.104 1 0.174
PRKD3PRKD3 0.758 -0.045 -3 0.746
MNK2MNK2 0.757 -0.064 -2 0.865
GRK5GRK5 0.757 -0.183 -3 0.886
PAK6PAK6 0.757 -0.043 -2 0.793
RIPK1RIPK1 0.757 -0.184 1 0.147
SMG1SMG1 0.757 -0.064 1 0.197
PAK3PAK3 0.756 -0.103 -2 0.861
PKACGPKACG 0.756 -0.061 -2 0.802
QIKQIK 0.756 -0.106 -3 0.859
PKCGPKCG 0.756 -0.092 2 0.413
NEK2NEK2 0.756 -0.162 2 0.445
PAK1PAK1 0.756 -0.077 -2 0.855
GRK6GRK6 0.756 -0.116 1 0.151
MARK2MARK2 0.755 -0.015 4 0.799
ALK4ALK4 0.755 -0.069 -2 0.867
NUAK1NUAK1 0.755 -0.080 -3 0.791
QSKQSK 0.755 -0.050 4 0.869
ANKRD3ANKRD3 0.755 -0.214 1 0.171
VRK2VRK2 0.755 -0.076 1 0.260
DLKDLK 0.755 -0.214 1 0.167
PKCHPKCH 0.755 -0.101 2 0.411
MELKMELK 0.754 -0.122 -3 0.811
TTBK2TTBK2 0.754 -0.223 2 0.396
MARK3MARK3 0.754 -0.026 4 0.836
BRSK1BRSK1 0.754 -0.070 -3 0.795
AURCAURC 0.754 -0.025 -2 0.719
PKCZPKCZ 0.753 -0.102 2 0.433
MLK4MLK4 0.753 -0.128 2 0.423
BRSK2BRSK2 0.753 -0.100 -3 0.830
PLK4PLK4 0.752 -0.149 2 0.363
MEK1MEK1 0.752 -0.145 2 0.495
ALK2ALK2 0.752 -0.003 -2 0.838
MNK1MNK1 0.752 -0.062 -2 0.871
SIKSIK 0.752 -0.061 -3 0.763
MSK2MSK2 0.752 -0.053 -3 0.737
CAMK2ACAMK2A 0.752 -0.014 2 0.546
PLK3PLK3 0.751 -0.073 2 0.510
YSK4YSK4 0.751 -0.185 1 0.141
CAMK4CAMK4 0.751 -0.146 -3 0.828
MPSK1MPSK1 0.751 -0.011 1 0.233
PLK1PLK1 0.751 -0.144 -2 0.844
CHAK1CHAK1 0.751 -0.185 2 0.413
GRK7GRK7 0.750 -0.025 1 0.187
MARK1MARK1 0.749 -0.042 4 0.854
PHKG2PHKG2 0.749 -0.103 -3 0.806
ACVR2AACVR2A 0.749 -0.074 -2 0.822
PIM2PIM2 0.749 -0.018 -3 0.740
SSTKSSTK 0.749 -0.060 4 0.861
RSK4RSK4 0.748 -0.034 -3 0.718
PAK2PAK2 0.748 -0.100 -2 0.844
SNRKSNRK 0.748 -0.175 2 0.394
ACVR2BACVR2B 0.748 -0.074 -2 0.832
GRK4GRK4 0.747 -0.166 -2 0.835
PKCTPKCT 0.747 -0.093 2 0.413
AKT2AKT2 0.747 -0.017 -3 0.673
BMPR1ABMPR1A 0.746 -0.023 1 0.127
SGK3SGK3 0.746 -0.065 -3 0.759
WNK4WNK4 0.746 -0.145 -2 0.924
MEKK1MEKK1 0.745 -0.168 1 0.166
PKACBPKACB 0.745 -0.014 -2 0.737
CHK1CHK1 0.745 -0.079 -3 0.828
AURBAURB 0.745 -0.043 -2 0.717
IRAK4IRAK4 0.745 -0.173 1 0.138
CAMK1GCAMK1G 0.745 -0.084 -3 0.765
GSK3AGSK3A 0.745 0.130 4 0.387
DRAK1DRAK1 0.744 -0.157 1 0.131
PKCIPKCI 0.744 -0.072 2 0.416
MYLK4MYLK4 0.744 -0.054 -2 0.837
PKG2PKG2 0.744 -0.054 -2 0.737
MSK1MSK1 0.744 -0.033 -3 0.743
TLK2TLK2 0.744 -0.150 1 0.144
ZAKZAK 0.744 -0.181 1 0.149
MAPKAPK5MAPKAPK5 0.744 -0.086 -3 0.732
HRIHRI 0.744 -0.183 -2 0.894
MEK5MEK5 0.743 -0.195 2 0.476
MST3MST3 0.743 -0.111 2 0.455
MEKK2MEKK2 0.743 -0.155 2 0.460
BRAFBRAF 0.743 -0.104 -4 0.841
DCAMKL1DCAMKL1 0.743 -0.095 -3 0.776
TAO3TAO3 0.743 -0.072 1 0.188
PERKPERK 0.742 -0.188 -2 0.868
AURAAURA 0.741 -0.026 -2 0.682
DCAMKL2DCAMKL2 0.741 -0.095 -3 0.809
NEK5NEK5 0.740 -0.193 1 0.154
MEKK3MEKK3 0.739 -0.193 1 0.161
TAO2TAO2 0.739 -0.084 2 0.488
AKT1AKT1 0.739 -0.032 -3 0.692
PRKXPRKX 0.739 0.003 -3 0.646
PKCEPKCE 0.738 -0.051 2 0.406
GAKGAK 0.737 -0.049 1 0.219
GRK2GRK2 0.737 -0.094 -2 0.729
SMMLCKSMMLCK 0.737 -0.058 -3 0.832
TTBK1TTBK1 0.736 -0.179 2 0.356
IRAK1IRAK1 0.735 -0.157 -1 0.790
PAK5PAK5 0.734 -0.072 -2 0.729
LKB1LKB1 0.734 -0.094 -3 0.894
PKN1PKN1 0.734 -0.081 -3 0.728
NEK11NEK11 0.734 -0.182 1 0.178
PDK1PDK1 0.734 -0.102 1 0.193
HGKHGK 0.733 -0.094 3 0.899
TLK1TLK1 0.733 -0.171 -2 0.849
MEKK6MEKK6 0.733 -0.148 1 0.165
MAP3K15MAP3K15 0.733 -0.139 1 0.163
NEK8NEK8 0.733 -0.194 2 0.460
CK2A2CK2A2 0.733 -0.022 1 0.124
TNIKTNIK 0.733 -0.069 3 0.902
CAMKK1CAMKK1 0.732 -0.163 -2 0.835
NEK4NEK4 0.732 -0.177 1 0.140
P70S6KP70S6K 0.731 -0.085 -3 0.710
CAMK1DCAMK1D 0.731 -0.048 -3 0.676
BUB1BUB1 0.731 -0.024 -5 0.753
MINKMINK 0.731 -0.114 1 0.140
GSK3BGSK3B 0.730 0.003 4 0.378
PAK4PAK4 0.730 -0.066 -2 0.728
PBKPBK 0.730 -0.053 1 0.202
PKACAPKACA 0.729 -0.026 -2 0.686
GCKGCK 0.729 -0.107 1 0.163
PASKPASK 0.729 -0.080 -3 0.849
SBKSBK 0.729 0.074 -3 0.543
LOKLOK 0.728 -0.120 -2 0.852
HPK1HPK1 0.727 -0.099 1 0.164
LRRK2LRRK2 0.727 -0.096 2 0.483
NEK1NEK1 0.727 -0.175 1 0.138
BIKEBIKE 0.726 -0.012 1 0.216
CAMKK2CAMKK2 0.726 -0.150 -2 0.837
KHS1KHS1 0.726 -0.082 1 0.157
MST2MST2 0.726 -0.154 1 0.148
CK1ECK1E 0.726 -0.072 -3 0.536
STK33STK33 0.726 -0.143 2 0.353
KHS2KHS2 0.725 -0.054 1 0.169
NEK3NEK3 0.725 -0.125 1 0.166
EEF2KEEF2K 0.725 -0.131 3 0.859
CK2A1CK2A1 0.725 -0.030 1 0.116
YSK1YSK1 0.724 -0.146 2 0.444
DAPK3DAPK3 0.724 -0.055 -3 0.793
AKT3AKT3 0.724 -0.029 -3 0.599
SGK1SGK1 0.723 -0.013 -3 0.583
MRCKBMRCKB 0.722 -0.045 -3 0.734
HASPINHASPIN 0.722 -0.031 -1 0.707
PLK2PLK2 0.721 -0.052 -3 0.822
RIPK2RIPK2 0.721 -0.197 1 0.133
TAK1TAK1 0.721 -0.195 1 0.140
AAK1AAK1 0.721 0.011 1 0.226
SLKSLK 0.721 -0.103 -2 0.791
CK1DCK1D 0.721 -0.037 -3 0.486
CHK2CHK2 0.720 -0.067 -3 0.617
ROCK2ROCK2 0.719 -0.054 -3 0.781
MEK2MEK2 0.719 -0.199 2 0.461
CAMK1ACAMK1A 0.719 -0.061 -3 0.637
MST1MST1 0.718 -0.177 1 0.140
VRK1VRK1 0.718 -0.226 2 0.471
PDHK3_TYRPDHK3_TYR 0.718 0.080 4 0.884
MRCKAMRCKA 0.717 -0.061 -3 0.751
GRK3GRK3 0.717 -0.102 -2 0.673
CK1G1CK1G1 0.717 -0.108 -3 0.535
DAPK1DAPK1 0.716 -0.063 -3 0.776
ASK1ASK1 0.714 -0.130 1 0.164
CK1A2CK1A2 0.714 -0.068 -3 0.482
DMPK1DMPK1 0.714 -0.013 -3 0.748
TAO1TAO1 0.713 -0.106 1 0.157
LIMK2_TYRLIMK2_TYR 0.713 0.048 -3 0.925
TESK1_TYRTESK1_TYR 0.713 0.005 3 0.914
MYO3BMYO3B 0.712 -0.103 2 0.460
PKMYT1_TYRPKMYT1_TYR 0.712 0.058 3 0.882
OSR1OSR1 0.711 -0.116 2 0.438
MYO3AMYO3A 0.710 -0.109 1 0.159
PDHK4_TYRPDHK4_TYR 0.710 0.048 2 0.536
PKG1PKG1 0.709 -0.067 -2 0.657
MAP2K7_TYRMAP2K7_TYR 0.709 -0.076 2 0.521
MAP2K6_TYRMAP2K6_TYR 0.708 0.054 -1 0.908
MAP2K4_TYRMAP2K4_TYR 0.708 -0.005 -1 0.909
ROCK1ROCK1 0.708 -0.057 -3 0.748
ALPHAK3ALPHAK3 0.708 -0.011 -1 0.799
CRIKCRIK 0.707 -0.034 -3 0.685
PINK1_TYRPINK1_TYR 0.707 -0.103 1 0.216
BMPR2_TYRBMPR2_TYR 0.706 0.039 -1 0.893
LIMK1_TYRLIMK1_TYR 0.705 -0.032 2 0.509
TTKTTK 0.705 -0.129 -2 0.844
RETRET 0.705 -0.104 1 0.182
YANK3YANK3 0.704 -0.079 2 0.253
PDHK1_TYRPDHK1_TYR 0.704 -0.026 -1 0.913
JAK2JAK2 0.703 -0.105 1 0.189
TYK2TYK2 0.702 -0.171 1 0.168
EPHA6EPHA6 0.701 -0.065 -1 0.876
NEK10_TYRNEK10_TYR 0.700 -0.096 1 0.166
MST1RMST1R 0.700 -0.113 3 0.852
CSF1RCSF1R 0.700 -0.080 3 0.835
FGFR2FGFR2 0.699 0.009 3 0.813
TYRO3TYRO3 0.698 -0.144 3 0.850
ABL2ABL2 0.698 -0.060 -1 0.845
ROS1ROS1 0.698 -0.155 3 0.820
FGFR1FGFR1 0.697 -0.022 3 0.804
JAK3JAK3 0.696 -0.108 1 0.176
EPHB4EPHB4 0.696 -0.104 -1 0.855
TNNI3K_TYRTNNI3K_TYR 0.696 -0.086 1 0.194
YES1YES1 0.695 -0.054 -1 0.877
TEKTEK 0.695 -0.005 3 0.773
STLK3STLK3 0.695 -0.192 1 0.134
JAK1JAK1 0.694 -0.121 1 0.160
DDR1DDR1 0.693 -0.087 4 0.809
TXKTXK 0.693 -0.069 1 0.136
EPHA4EPHA4 0.693 -0.037 2 0.517
ABL1ABL1 0.693 -0.089 -1 0.841
FLT3FLT3 0.692 -0.119 3 0.841
PDGFRBPDGFRB 0.692 -0.152 3 0.846
TNK1TNK1 0.691 -0.109 3 0.824
HCKHCK 0.691 -0.090 -1 0.864
INSRRINSRR 0.691 -0.068 3 0.780
LCKLCK 0.690 -0.068 -1 0.863
FERFER 0.690 -0.119 1 0.155
KITKIT 0.689 -0.095 3 0.830
ITKITK 0.688 -0.118 -1 0.840
BLKBLK 0.688 -0.054 -1 0.868
FGRFGR 0.688 -0.149 1 0.149
SRMSSRMS 0.687 -0.096 1 0.130
KDRKDR 0.687 -0.109 3 0.789
FGFR3FGFR3 0.686 -0.027 3 0.783
EPHB3EPHB3 0.685 -0.124 -1 0.843
AXLAXL 0.685 -0.142 3 0.814
MERTKMERTK 0.685 -0.126 3 0.812
EPHB1EPHB1 0.685 -0.143 1 0.134
PDGFRAPDGFRA 0.685 -0.195 3 0.846
EPHB2EPHB2 0.685 -0.102 -1 0.832
WEE1_TYRWEE1_TYR 0.684 -0.092 -1 0.784
TNK2TNK2 0.684 -0.145 3 0.784
BTKBTK 0.682 -0.145 -1 0.811
FYNFYN 0.682 -0.032 -1 0.840
EGFREGFR 0.682 -0.048 1 0.131
EPHA7EPHA7 0.681 -0.085 2 0.508
DDR2DDR2 0.681 -0.012 3 0.760
BMXBMX 0.680 -0.095 -1 0.754
ERBB2ERBB2 0.680 -0.121 1 0.153
TECTEC 0.680 -0.122 -1 0.785
ALKALK 0.680 -0.149 3 0.762
LTKLTK 0.679 -0.137 3 0.779
INSRINSR 0.679 -0.106 3 0.760
EPHA1EPHA1 0.679 -0.129 3 0.805
METMET 0.678 -0.123 3 0.826
FLT4FLT4 0.678 -0.133 3 0.772
PTK2BPTK2B 0.678 -0.087 -1 0.815
FRKFRK 0.677 -0.142 -1 0.873
EPHA3EPHA3 0.677 -0.103 2 0.489
LYNLYN 0.676 -0.074 3 0.752
NTRK1NTRK1 0.676 -0.154 -1 0.836
FLT1FLT1 0.676 -0.131 -1 0.843
EPHA5EPHA5 0.675 -0.061 2 0.527
CK1ACK1A 0.675 -0.090 -3 0.389
NTRK2NTRK2 0.675 -0.176 3 0.790
EPHA8EPHA8 0.674 -0.072 -1 0.828
FGFR4FGFR4 0.674 -0.048 -1 0.786
PTK6PTK6 0.673 -0.204 -1 0.771
YANK2YANK2 0.673 -0.087 2 0.280
SRCSRC 0.671 -0.082 -1 0.840
PTK2PTK2 0.671 -0.036 -1 0.791
NTRK3NTRK3 0.671 -0.126 -1 0.787
MUSKMUSK 0.670 -0.142 1 0.121
MATKMATK 0.670 -0.095 -1 0.763
CSKCSK 0.670 -0.112 2 0.495
ERBB4ERBB4 0.665 -0.053 1 0.129
EPHA2EPHA2 0.665 -0.077 -1 0.783
IGF1RIGF1R 0.663 -0.100 3 0.697
SYKSYK 0.662 -0.056 -1 0.784
CK1G3CK1G3 0.657 -0.081 -3 0.339
ZAP70ZAP70 0.648 -0.060 -1 0.710
FESFES 0.646 -0.135 -1 0.733
CK1G2CK1G2 0.634 -0.080 -3 0.444