Motif 23 (n=425)
Position-wise Probabilities
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uniprot | genes | site | source | protein | function |
---|---|---|---|---|---|
A0A0G2JS52 | None | S41 | ochoa | Myelin transcription factor 1 domain-containing protein | None |
A1L170 | C1orf226 | S223 | ochoa | Uncharacterized protein C1orf226 | None |
A4UGR9 | XIRP2 | S3059 | ochoa | 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}. |
A6H8Y1 | BDP1 | S1403 | ochoa | Transcription factor TFIIIB component B'' homolog (Transcription factor IIIB 150) (TFIIIB150) (Transcription factor-like nuclear regulator) | General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site. {ECO:0000269|PubMed:11040218}. |
A6H8Y1 | BDP1 | S1781 | ochoa | Transcription factor TFIIIB component B'' homolog (Transcription factor IIIB 150) (TFIIIB150) (Transcription factor-like nuclear regulator) | General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site. {ECO:0000269|PubMed:11040218}. |
A6NFI3 | ZNF316 | S221 | ochoa | Zinc finger protein 316 | May be involved in transcriptional regulation. {ECO:0000250}. |
A7MD48 | SRRM4 | S363 | ochoa | Serine/arginine repetitive matrix protein 4 (Medulloblastoma antigen MU-MB-2.76) (Neural-specific serine/arginine repetitive splicing factor of 100 kDa) (Neural-specific SR-related protein of 100 kDa) (nSR100) | Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity). Promotes alternative splicing of REST transcripts to produce REST isoform 3 (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells (PubMed:30684677). Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions (By similarity). {ECO:0000250|UniProtKB:Q8BKA3, ECO:0000269|PubMed:30684677}. |
H7C1W4 | None | S242 | ochoa | Uncharacterized protein | None |
O00203 | AP3B1 | S29 | ochoa | AP-3 complex subunit beta-1 (Adaptor protein complex AP-3 subunit beta-1) (Adaptor-related protein complex 3 subunit beta-1) (Beta-3A-adaptin) (Clathrin assembly protein complex 3 beta-1 large chain) | Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. {ECO:0000305|PubMed:9151686}. |
O00444 | PLK4 | S421 | ochoa | Serine/threonine-protein kinase PLK4 (EC 2.7.11.21) (Polo-like kinase 4) (PLK-4) (Serine/threonine-protein kinase 18) (Serine/threonine-protein kinase Sak) | Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124). Phosphorylates CEP131 at 'Ser-78' and PCM1 at 'Ser-372' which is essential for proper organization and integrity of centriolar satellites (PubMed:30804208). {ECO:0000269|PubMed:16244668, ECO:0000269|PubMed:16326102, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:18239451, ECO:0000269|PubMed:19164942, ECO:0000269|PubMed:21725316, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:30804208}. |
O14513 | NCKAP5 | S600 | ochoa | Nck-associated protein 5 (NAP-5) (Peripheral clock protein) | None |
O14974 | PPP1R12A | S299 | ochoa|psp | Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase-targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin-binding subunit) | Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity. {ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:19245366, ECO:0000269|PubMed:20354225}. |
O14981 | BTAF1 | S95 | ochoa | TATA-binding protein-associated factor 172 (EC 3.6.4.-) (ATP-dependent helicase BTAF1) (B-TFIID transcription factor-associated 170 kDa subunit) (TAF(II)170) (TBP-associated factor 172) (TAF-172) | Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner. |
O15034 | RIMBP2 | S712 | ochoa | RIMS-binding protein 2 (RIM-BP2) | Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B. {ECO:0000250}. |
O15371 | EIF3D | S308 | ochoa | Eukaryotic translation initiation factor 3 subunit D (eIF3d) (Eukaryotic translation initiation factor 3 subunit 7) (eIF-3-zeta) (eIF3 p66) | mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (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:18599441, PubMed:25849773). 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). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815). {ECO:0000269|PubMed:18599441, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.; FUNCTION: (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426). {ECO:0000269|PubMed:18056426}. |
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}. |
O60303 | KATNIP | S253 | ochoa | Katanin-interacting protein | May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex. {ECO:0000269|PubMed:26714646}. |
O75132 | ZBED4 | S255 | ochoa | Zinc finger BED domain-containing protein 4 | Transcriptional regulator that binds to poly-guanine tracts in gene promoters and activates transcription (By similarity). Able to bind single- and double-stranded DNA and RNA (By similarity). {ECO:0000250|UniProtKB:Q80WQ9}. |
O75132 | ZBED4 | S624 | ochoa | Zinc finger BED domain-containing protein 4 | Transcriptional regulator that binds to poly-guanine tracts in gene promoters and activates transcription (By similarity). Able to bind single- and double-stranded DNA and RNA (By similarity). {ECO:0000250|UniProtKB:Q80WQ9}. |
O75151 | PHF2 | S474 | ochoa | Lysine-specific demethylase PHF2 (EC 1.14.11.-) (GRC5) (PHD finger protein 2) | Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B (PubMed:21532585). Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes (PubMed:21532585). The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA (PubMed:21532585). Involved in the activation of toll-like receptor 4 (TLR4)-target inflammatory genes in macrophages by catalyzing the demethylation of trimethylated histone H4 lysine 20 (H4K20me3) at the gene promoters (By similarity). {ECO:0000250|UniProtKB:Q9WTU0, ECO:0000269|PubMed:20129925, ECO:0000269|PubMed:21167174, ECO:0000269|PubMed:21532585}. |
O75151 | PHF2 | S625 | ochoa | Lysine-specific demethylase PHF2 (EC 1.14.11.-) (GRC5) (PHD finger protein 2) | Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B (PubMed:21532585). Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes (PubMed:21532585). The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA (PubMed:21532585). Involved in the activation of toll-like receptor 4 (TLR4)-target inflammatory genes in macrophages by catalyzing the demethylation of trimethylated histone H4 lysine 20 (H4K20me3) at the gene promoters (By similarity). {ECO:0000250|UniProtKB:Q9WTU0, ECO:0000269|PubMed:20129925, ECO:0000269|PubMed:21167174, ECO:0000269|PubMed:21532585}. |
O75529 | TAF5L | S230 | ochoa | TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L (TAF5L) (PCAF-associated factor 65 beta) (PAF65-beta) | Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF6L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state (By similarity). {ECO:0000250|UniProtKB:Q91WQ5, ECO:0000305|PubMed:9674419}. |
O75794 | CDC123 | S299 | ochoa | Translation initiation factor eIF2 assembly protein (Cell division cycle protein 123 homolog) (Protein D123) (HT-1080) (PZ32) | ATP-dependent protein-folding chaperone for the eIF2 complex (PubMed:35031321, PubMed:37507029). Binds to the gamma subunit of the eIF2 complex which allows the subunit to assemble with the alpha and beta subunits (By similarity). {ECO:0000250|UniProtKB:Q05791, ECO:0000269|PubMed:35031321, ECO:0000269|PubMed:37507029}. |
O94806 | PRKD3 | S391 | ochoa | Serine/threonine-protein kinase D3 (EC 2.7.11.13) (Protein kinase C nu type) (Protein kinase EPK2) (nPKC-nu) | Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity). {ECO:0000250}. |
O94885 | SASH1 | S297 | ochoa | SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein) | Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:23776175, ECO:0000269|PubMed:25315659}. |
O95202 | LETM1 | S142 | ochoa | Mitochondrial proton/calcium exchanger protein (Electroneutral mitochondrial K(+)/H(+)exchanger) (KHE) (Leucine zipper-EF-hand-containing transmembrane protein 1) | Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:36055214, PubMed:36321428). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662, PubMed:24344246, PubMed:29123128). Also functions as an electroneutral mitochondrial proton/potassium exchanger (PubMed:24898248, PubMed:36055214, PubMed:36321428). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306, PubMed:36055214). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306, PubMed:32139798). {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662, ECO:0000269|PubMed:24344246, ECO:0000269|PubMed:24898248, ECO:0000269|PubMed:29123128, ECO:0000269|PubMed:32139798, ECO:0000269|PubMed:36055214, ECO:0000269|PubMed:36321428}. |
O95359 | TACC2 | S1608 | ochoa | Transforming acidic coiled-coil-containing protein 2 (Anti-Zuai-1) (AZU-1) | Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker. {ECO:0000250, ECO:0000269|PubMed:10749935}. |
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}. |
O95466 | FMNL1 | S950 | ochoa | Formin-like protein 1 (CLL-associated antigen KW-13) (Leukocyte formin) | May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}. |
O95677 | EYA4 | S37 | ochoa | Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absent homolog 4) | Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). {ECO:0000250|UniProtKB:Q99502}. |
O95785 | WIZ | S1079 | ochoa | Protein Wiz (Widely-interspaced zinc finger-containing protein) (Zinc finger protein 803) | May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). {ECO:0000250}. |
O95785 | WIZ | S1263 | ochoa | Protein Wiz (Widely-interspaced zinc finger-containing protein) (Zinc finger protein 803) | May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). {ECO:0000250}. |
O95822 | MLYCD | S204 | psp | Malonyl-CoA decarboxylase, mitochondrial (MCD) (EC 4.1.1.9) | Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation. {ECO:0000269|PubMed:10455107, ECO:0000269|PubMed:15003260, ECO:0000269|PubMed:18314420, ECO:0000269|PubMed:23482565}. |
O96019 | ACTL6A | S233 | ochoa|psp | Actin-like protein 6A (53 kDa BRG1-associated factor A) (Actin-related protein Baf53a) (ArpNbeta) (BRG1-associated factor 53A) (BAF53A) (INO80 complex subunit K) | 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. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. 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). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:29374058, ECO:0000303|PubMed:15196461, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}. |
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}. |
P05162 | LGALS2 | S77 | ochoa | Galectin-2 (Gal-2) (Beta-galactoside-binding lectin L-14-II) (HL14) (Lactose-binding lectin 2) (S-Lac lectin 2) | This protein binds beta-galactoside. Its physiological function is not yet known. |
P10914 | IRF1 | S282 | ochoa | Interferon regulatory factor 1 (IRF-1) | Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195, PubMed:32385160). Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195). Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:21389130, PubMed:22367195). Has an essentail role in IFNG-dependent immunity to mycobacteria (PubMed:36736301). Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters (PubMed:32385160). Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1 (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195). Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4 (PubMed:18641303, PubMed:22200613). Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53 (PubMed:15509808, PubMed:18084608). Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells (PubMed:20049431). {ECO:0000269|PubMed:15226432, ECO:0000269|PubMed:15509808, ECO:0000269|PubMed:17516545, ECO:0000269|PubMed:17942705, ECO:0000269|PubMed:18084608, ECO:0000269|PubMed:18497060, ECO:0000269|PubMed:18641303, ECO:0000269|PubMed:19404407, ECO:0000269|PubMed:19851330, ECO:0000269|PubMed:21389130, ECO:0000269|PubMed:22200613, ECO:0000269|PubMed:22367195, ECO:0000269|PubMed:32385160, ECO:0000269|PubMed:36736301, ECO:0000303|PubMed:11244049, ECO:0000303|PubMed:11846971, ECO:0000303|PubMed:11846974, ECO:0000303|PubMed:16932750, ECO:0000303|PubMed:20049431}. |
P13796 | LCP1 | S265 | ochoa | Plastin-2 (L-plastin) (LC64P) (Lymphocyte cytosolic protein 1) (LCP-1) | Actin-binding protein (PubMed:16636079, PubMed:17294403, PubMed:28493397). Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Modulates the cell surface expression of IL2RA/CD25 and CD69 (PubMed:17294403). {ECO:0000269|PubMed:16636079, ECO:0000269|PubMed:17294403, ECO:0000269|PubMed:28493397}. |
P15880 | RPS2 | S264 | ochoa | Small ribosomal subunit protein uS5 (40S ribosomal protein S2) (40S ribosomal protein S4) (Protein LLRep3) | Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (PubMed:23636399). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (PubMed:23636399). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399). Plays a role in the assembly and function of the 40S ribosomal subunit (By similarity). Mutations in this protein affects the control of translational fidelity (By similarity). Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity). {ECO:0000250|UniProtKB:P25443, ECO:0000269|PubMed:23636399}. |
P17947 | SPI1 | S140 | psp | Transcription factor PU.1 (31 kDa-transforming protein) | Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions (PubMed:23658224, PubMed:33951726). Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity). Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity). May be particularly important for the pro- to pre-B cell transition (PubMed:33951726). Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box (PubMed:33951726). In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity). {ECO:0000250|UniProtKB:P17433, ECO:0000250|UniProtKB:Q6BDS1, ECO:0000269|PubMed:23658224, ECO:0000269|PubMed:33951726}. |
P19174 | PLCG1 | S866 | ochoa | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 (EC 3.1.4.11) (PLC-148) (Phosphoinositide phospholipase C-gamma-1) (Phospholipase C-II) (PLC-II) (Phospholipase C-gamma-1) (PLC-gamma-1) | Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Plays a role in actin reorganization and cell migration (PubMed:17229814). Guanine nucleotide exchange factor that binds the GTPase DNM1 and catalyzes the dissociation of GDP, allowing a GTP molecule to bind in its place, therefore enhancing DNM1-dependent endocytosis (By similarity). {ECO:0000250|UniProtKB:P10686, ECO:0000269|PubMed:17229814, ECO:0000269|PubMed:37422272}. |
P20618 | PSMB1 | S68 | ochoa | Proteasome subunit beta type-1 (Macropain subunit C5) (Multicatalytic endopeptidase complex subunit C5) (Proteasome component C5) (Proteasome gamma chain) (Proteasome subunit beta-6) (beta-6) | Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). {ECO:0000269|PubMed:15244466, ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}. |
P23508 | MCC | S702 | ochoa | Colorectal mutant cancer protein (Protein MCC) | Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780). {ECO:0000269|PubMed:18591935, ECO:0000269|PubMed:19555689, ECO:0000269|PubMed:22480440, ECO:0000269|PubMed:24824780}. |
P26045 | PTPN3 | S434 | ochoa | Tyrosine-protein phosphatase non-receptor type 3 (EC 3.1.3.48) (Protein-tyrosine phosphatase H1) (PTP-H1) | May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. |
P30304 | CDC25A | S283 | ochoa|psp | M-phase inducer phosphatase 1 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25A) | Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression (PubMed:12676925, PubMed:14559997, PubMed:1836978, PubMed:20360007). Directly dephosphorylates CDK1 and stimulates its kinase activity (PubMed:20360007). Also dephosphorylates CDK2 in complex with cyclin-E, in vitro (PubMed:20360007). {ECO:0000269|PubMed:12676925, ECO:0000269|PubMed:14559997, ECO:0000269|PubMed:1836978, ECO:0000269|PubMed:20360007}. |
P34932 | HSPA4 | S780 | ochoa | Heat shock 70 kDa protein 4 (HSP70RY) (Heat shock 70-related protein APG-2) (Heat shock protein family H member 2) | None |
P35611 | ADD1 | S465 | ochoa | Alpha-adducin (Erythrocyte adducin subunit alpha) | Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin. |
P43358 | MAGEA4 | S99 | ochoa | Melanoma-associated antigen 4 (Cancer/testis antigen 1.4) (CT1.4) (MAGE-4 antigen) (MAGE-41 antigen) (MAGE-X2 antigen) | Regulates cell proliferation through the inhibition of cell cycle arrest at the G1 phase (PubMed:22842486). Also negatively regulates p53-mediated apoptosis (PubMed:22842486). {ECO:0000269|PubMed:22842486}. |
P46100 | ATRX | S34 | ochoa | Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) | Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}. |
P51587 | BRCA2 | S1946 | ochoa | Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein) | Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). {ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15199141, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:20729832, ECO:0000269|PubMed:20729858, ECO:0000269|PubMed:20729859, ECO:0000269|PubMed:21084279, ECO:0000269|PubMed:21719596, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:24896180}. |
P51955 | NEK2 | S300 | 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}. |
P54646 | PRKAA2 | S345 | ochoa | 5'-AMP-activated protein kinase catalytic subunit alpha-2 (AMPK subunit alpha-2) (EC 2.7.11.1) (Acetyl-CoA carboxylase kinase) (ACACA kinase) (Hydroxymethylglutaryl-CoA reductase kinase) (HMGCR kinase) (EC 2.7.11.31) | Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:17307971, PubMed:17712357). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:17307971, PubMed:17712357). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:17307971, PubMed:17712357). Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively (PubMed:7959015). Promotes lipolysis of lipid droplets by mediating phosphorylation of isoform 1 of CHKA (CHKalpha2) (PubMed:34077757). Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3 (By similarity). Involved in insulin receptor/INSR internalization (PubMed:25687571). AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160 (By similarity). Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A (PubMed:11518699, PubMed:11554766, PubMed:15866171, PubMed:17711846, PubMed:18184930). Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm (By similarity). In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription (By similarity). Acts as a key regulator of cell growth and proliferation by phosphorylating FNIP1, TSC2, RPTOR, WDR24 and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2 (PubMed:14651849, PubMed:20160076, PubMed:21205641). Also phosphorylates and inhibits GATOR2 subunit WDR24 in response to nutrient limitation, leading to suppress glucose-mediated mTORC1 activation (PubMed:36732624). In response to energetic stress, phosphorylates FNIP1, inactivating the non-canonical mTORC1 signaling, thereby promoting nuclear translocation of TFEB and TFE3, and inducing transcription of lysosomal or autophagy genes (PubMed:37079666). In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1 (PubMed:21205641). In that process, it also activates WDR45/WIPI4 (PubMed:28561066). Phosphorylates CASP6, thereby preventing its autoprocessing and subsequent activation (PubMed:32029622). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it (By similarity). May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it (By similarity). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:17486097). Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1 (PubMed:12519745, PubMed:20074060). Plays an important role in the differential regulation of pro-autophagy (composed of PIK3C3, BECN1, PIK3R4 and UVRAG or ATG14) and non-autophagy (composed of PIK3C3, BECN1 and PIK3R4) complexes, in response to glucose starvation (By similarity). Can inhibit the non-autophagy complex by phosphorylating PIK3C3 and can activate the pro-autophagy complex by phosphorylating BECN1 (By similarity). Upon glucose starvation, promotes ARF6 activation in a kinase-independent manner leading to cell migration (PubMed:36017701). Upon glucose deprivation mediates the phosphorylation of ACSS2 at 'Ser-659', which exposes the nuclear localization signal of ACSS2, required for its interaction with KPNA1 and nuclear translocation (PubMed:28552616). Upon stress, regulates mitochondrial fragmentation through phosphorylation of MTFR1L (PubMed:36367943). {ECO:0000250|UniProtKB:Q09137, ECO:0000250|UniProtKB:Q8BRK8, ECO:0000269|PubMed:11518699, ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:14651849, ECO:0000269|PubMed:15866171, ECO:0000269|PubMed:17486097, ECO:0000269|PubMed:17711846, ECO:0000269|PubMed:18184930, ECO:0000269|PubMed:20074060, ECO:0000269|PubMed:20160076, ECO:0000269|PubMed:21205641, ECO:0000269|PubMed:25687571, ECO:0000269|PubMed:28552616, ECO:0000269|PubMed:28561066, ECO:0000269|PubMed:32029622, ECO:0000269|PubMed:34077757, ECO:0000269|PubMed:36017701, ECO:0000269|PubMed:36367943, ECO:0000269|PubMed:36732624, ECO:0000269|PubMed:37079666, ECO:0000269|PubMed:7959015, ECO:0000303|PubMed:17307971, ECO:0000303|PubMed:17712357}. |
P57740 | NUP107 | S734 | ochoa | Nuclear pore complex protein Nup107 (107 kDa nucleoporin) (Nucleoporin Nup107) | Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12552102, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:30179222}. |
P60983 | GMFB | S53 | psp | Glia maturation factor beta (GMF-beta) | This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells. |
P78347 | GTF2I | S515 | ochoa | General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein) | Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. {ECO:0000269|PubMed:10373551, ECO:0000269|PubMed:11373296, ECO:0000269|PubMed:16738337}. |
P78347 | GTF2I | S620 | ochoa | General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein) | Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. {ECO:0000269|PubMed:10373551, ECO:0000269|PubMed:11373296, ECO:0000269|PubMed:16738337}. |
P78559 | MAP1A | S909 | 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. |
P81133 | SIM1 | S651 | ochoa | Single-minded homolog 1 (Class E basic helix-loop-helix protein 14) (bHLHe14) | Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. |
P86790 | CCZ1B | S266 | ochoa | Vacuolar fusion protein CCZ1 homolog B (Vacuolar fusion protein CCZ1 homolog-like) | None |
P86791 | CCZ1 | S266 | ochoa | Vacuolar fusion protein CCZ1 homolog | Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991). {ECO:0000269|PubMed:23084991}. |
Q01094 | E2F1 | S403 | psp | Transcription factor E2F1 (E2F-1) (PBR3) (Retinoblastoma-associated protein 1) (RBAP-1) (Retinoblastoma-binding protein 3) (RBBP-3) (pRB-binding protein E2F-1) | Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication (PubMed:10675335, PubMed:12717439, PubMed:17050006, PubMed:17704056, PubMed:18625225, PubMed:28992046). The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase (PubMed:10675335, PubMed:12717439, PubMed:17704056). E2F1 binds preferentially RB1 in a cell-cycle dependent manner (PubMed:10675335, PubMed:12717439, PubMed:17704056). It can mediate both cell proliferation and TP53/p53-dependent apoptosis (PubMed:8170954). Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812). Directly activates transcription of PEG10 (PubMed:17050006, PubMed:18625225, PubMed:28992046). Positively regulates transcription of RRP1B (PubMed:20040599). {ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:12717439, ECO:0000269|PubMed:17050006, ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:18625225, ECO:0000269|PubMed:20040599, ECO:0000269|PubMed:20176812, ECO:0000269|PubMed:28992046, ECO:0000269|PubMed:8170954}. |
Q01538 | MYT1 | S333 | ochoa | Myelin transcription factor 1 (MyT1) (Myelin transcription factor I) (MyTI) (PLPB1) (Proteolipid protein-binding protein) | Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription. {ECO:0000269|PubMed:14962745}. |
Q01974 | ROR2 | S569 | ochoa | Tyrosine-protein kinase transmembrane receptor ROR2 (EC 2.7.10.1) (Neurotrophic tyrosine kinase, receptor-related 2) | Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443). {ECO:0000250|UniProtKB:Q9Z138, ECO:0000269|PubMed:17717073, ECO:0000269|PubMed:25029443}. |
Q02156 | PRKCE | S381 | ochoa | Protein kinase C epsilon type (EC 2.7.11.13) (nPKC-epsilon) | Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. In HeLa cells, contributes to hepatocyte growth factor (HGF)-induced cell migration, and in human corneal epithelial cells, plays a critical role in wound healing after activation by HGF. During cytokinesis, forms a complex with YWHAB, which is crucial for daughter cell separation, and facilitates abscission by a mechanism which may implicate the regulation of RHOA. In cardiac myocytes, regulates myofilament function and excitation coupling at the Z-lines, where it is indirectly associated with F-actin via interaction with COPB1. During endothelin-induced cardiomyocyte hypertrophy, mediates activation of PTK2/FAK, which is critical for cardiomyocyte survival and regulation of sarcomere length. Plays a role in the pathogenesis of dilated cardiomyopathy via persistent phosphorylation of troponin I (TNNI3). Involved in nerve growth factor (NFG)-induced neurite outgrowth and neuron morphological change independently of its kinase activity, by inhibition of RHOA pathway, activation of CDC42 and cytoskeletal rearrangement. May be involved in presynaptic facilitation by mediating phorbol ester-induced synaptic potentiation. Phosphorylates gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), which reduces the response of GABA receptors to ethanol and benzodiazepines and may mediate acute tolerance to the intoxicating effects of ethanol. Upon PMA treatment, phosphorylates the capsaicin- and heat-activated cation channel TRPV1, which is required for bradykinin-induced sensitization of the heat response in nociceptive neurons. Is able to form a complex with PDLIM5 and N-type calcium channel, and may enhance channel activities and potentiates fast synaptic transmission by phosphorylating the pore-forming alpha subunit CACNA1B (CaV2.2). In prostate cancer cells, interacts with and phosphorylates STAT3, which increases DNA-binding and transcriptional activity of STAT3 and seems to be essential for prostate cancer cell invasion. Downstream of TLR4, plays an important role in the lipopolysaccharide (LPS)-induced immune response by phosphorylating and activating TICAM2/TRAM, which in turn activates the transcription factor IRF3 and subsequent cytokines production. In differentiating erythroid progenitors, is regulated by EPO and controls the protection against the TNFSF10/TRAIL-mediated apoptosis, via BCL2. May be involved in the regulation of the insulin-induced phosphorylation and activation of AKT1. Phosphorylates NLRP5/MATER and may thereby modulate AKT pathway activation in cumulus cells (PubMed:19542546). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231). {ECO:0000269|PubMed:11884385, ECO:0000269|PubMed:1374067, ECO:0000269|PubMed:15355962, ECO:0000269|PubMed:16757566, ECO:0000269|PubMed:17603037, ECO:0000269|PubMed:17875639, ECO:0000269|PubMed:17875724, ECO:0000269|PubMed:19542546, ECO:0000269|PubMed:21806543, ECO:0000269|PubMed:36040231}. |
Q03164 | KMT2A | S3644 | ochoa | Histone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.364) (ALL-1) (CXXC-type zinc finger protein 7) (Cysteine methyltransferase KMT2A) (EC 2.1.1.-) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage leukemia protein 1) (Trithorax-like protein) (Zinc finger protein HRX) [Cleaved into: MLL cleavage product N320 (N-terminal cleavage product of 320 kDa) (p320); MLL cleavage product C180 (C-terminal cleavage product of 180 kDa) (p180)] | Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:24235145, PubMed:26886794). 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. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:25561738, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (PubMed:19187761). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20010842, PubMed:20677832). Promotes PPP1R15A-induced apoptosis (PubMed:10490642). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate (PubMed:24235145). {ECO:0000250|UniProtKB:P55200, ECO:0000269|PubMed:10490642, ECO:0000269|PubMed:12453419, ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:19187761, ECO:0000269|PubMed:19556245, ECO:0000269|PubMed:20010842, ECO:0000269|PubMed:21220120, ECO:0000269|PubMed:24235145, ECO:0000269|PubMed:26886794, ECO:0000305|PubMed:20677832}. |
Q08050 | FOXM1 | S35 | ochoa|psp | Forkhead box protein M1 (Forkhead-related protein FKHL16) (Hepatocyte nuclear factor 3 forkhead homolog 11) (HFH-11) (HNF-3/fork-head homolog 11) (M-phase phosphoprotein 2) (MPM-2 reactive phosphoprotein 2) (Transcription factor Trident) (Winged-helix factor from INS-1 cells) | Transcription factor regulating the expression of cell cycle genes essential for DNA replication and mitosis (PubMed:19160488, PubMed:20360045). Plays a role in the control of cell proliferation (PubMed:19160488). Also plays a role in DNA break repair, participating in the DNA damage checkpoint response (PubMed:17101782). Promotes transcription of PHB2 (PubMed:33754036). {ECO:0000269|PubMed:17101782, ECO:0000269|PubMed:19160488, ECO:0000269|PubMed:20360045, ECO:0000269|PubMed:33754036}. |
Q12931 | TRAP1 | S568 | ochoa|psp | 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}. |
Q13393 | PLD1 | S45 | ochoa | Phospholipase D1 (PLD 1) (hPLD1) (EC 3.1.4.4) (Choline phosphatase 1) (Phosphatidylcholine-hydrolyzing phospholipase D1) | Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity). {ECO:0000250|UniProtKB:Q9Z280, ECO:0000269|PubMed:25936805, ECO:0000269|PubMed:8530346, ECO:0000269|PubMed:9582313}. |
Q13523 | PRP4K | S328 | ochoa | Serine/threonine-protein kinase PRP4 homolog (EC 2.7.11.1) (PRP4 kinase) (PRP4 pre-mRNA-processing factor 4 homolog) | Serine/threonine kinase involved in spliceosomal assembly as well as mitosis and signaling regulation (PubMed:10799319, PubMed:12077342, PubMed:17513757, PubMed:17998396). Connects chromatin mediated regulation of transcription and pre-mRNA splicing (PubMed:12077342). During spliceosomal assembly, interacts with and phosphorylates PRPF6 and PRPF31, components of the U4/U6-U5 tri-small nuclear ribonucleoprotein (snRNP), to facilitate the formation of the spliceosome B complex. Plays a role in regulating transcription and the spindle assembly checkpoint (SAC) (PubMed:20118938). Associates with U5 snRNP and NCOR1 deacetylase complexes which may allow a coordination of pre-mRNA splicing with chromatin remodeling events involved in transcriptional regulation (PubMed:12077342). Associates and probably phosphorylates SMARCA4 and NCOR1 (PubMed:12077342). Phosphorylates SRSF1 (PubMed:11418604). Associates with kinetochores during mitosis and is necessary for recruitment and maintenance of the checkpoint proteins such as MAD1L1 and MAD12L1 at the kinetochores (PubMed:17998396). Phosphorylates and regulates the activity of the transcription factors such as ELK1 and KLF13 (PubMed:10799319, PubMed:17513757). Phosphorylates nuclear YAP1 and WWTR1/TAZ which induces nuclear exclusion and regulates Hippo signaling pathway, involved in tissue growth control (PubMed:29695716). {ECO:0000269|PubMed:10799319, ECO:0000269|PubMed:11418604, ECO:0000269|PubMed:12077342, ECO:0000269|PubMed:17513757, ECO:0000269|PubMed:17998396, ECO:0000269|PubMed:20118938, ECO:0000269|PubMed:29695716}. |
Q13561 | DCTN2 | S320 | ochoa | Dynactin subunit 2 (50 kDa dynein-associated polypeptide) (Dynactin complex 50 kDa subunit) (DCTN-50) (p50 dynamitin) | Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. In the dynactin soulder domain, binds the ACTR1A filament and acts as a molecular ruler to determine the length (By similarity). Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development (By similarity). {ECO:0000250|UniProtKB:A0A5G2QD80, ECO:0000250|UniProtKB:Q99KJ8}. |
Q14103 | HNRNPD | S83 | ochoa|psp | Heterogeneous nuclear ribonucleoprotein D0 (hnRNP D0) (AU-rich element RNA-binding protein 1) | Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats. Binding of RRM1 to DNA inhibits the formation of DNA quadruplex structure which may play a role in telomere elongation. May be involved in translationally coupled mRNA turnover. 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. May play a role in the regulation of the rhythmic expression of circadian clock core genes. Directly binds to the 3'UTR of CRY1 mRNA and induces CRY1 rhythmic translation. May also be involved in the regulation of PER2 translation. {ECO:0000269|PubMed:10080887, ECO:0000269|PubMed:11051545, ECO:0000269|PubMed:24423872}. |
Q14153 | FAM53B | S324 | ochoa | Protein FAM53B (Protein simplet) | Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization. {ECO:0000269|PubMed:25183871}. |
Q14686 | NCOA6 | S1481 | ochoa | Nuclear receptor coactivator 6 (Activating signal cointegrator 2) (ASC-2) (Amplified in breast cancer protein 3) (Cancer-amplified transcriptional coactivator ASC-2) (Nuclear receptor coactivator RAP250) (NRC RAP250) (Nuclear receptor-activating protein, 250 kDa) (Peroxisome proliferator-activated receptor-interacting protein) (PPAR-interacting protein) (PRIP) (Thyroid hormone receptor-binding protein) | Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins. |
Q149N8 | SHPRH | S93 | ochoa | E3 ubiquitin-protein ligase SHPRH (EC 2.3.2.27) (EC 3.6.4.-) (RING-type E3 ubiquitin transferase SHPRH) (SNF2, histone-linker, PHD and RING finger domain-containing helicase) | E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through 'Lys-63'. {ECO:0000269|PubMed:17108083, ECO:0000269|PubMed:17130289, ECO:0000269|PubMed:18719106}. |
Q15007 | WTAP | S306 | ochoa|psp | Pre-mRNA-splicing regulator WTAP (Female-lethal(2)D homolog) (hFL(2)D) (WT1-associated protein) (Wilms tumor 1-associating protein) | 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). Required for accumulation of METTL3 and METTL14 to nuclear speckle (PubMed:24316715, PubMed:24407421, PubMed:24981863). Acts as a mRNA splicing regulator (PubMed:12444081). Regulates G2/M cell-cycle transition by binding to the 3' UTR of CCNA2, which enhances its stability (PubMed:17088532). Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes (PubMed:17095724). {ECO:0000269|PubMed:12444081, ECO:0000269|PubMed:17088532, ECO:0000269|PubMed:17095724, ECO:0000269|PubMed:24316715, ECO:0000269|PubMed:24407421, ECO:0000269|PubMed:24981863, ECO:0000269|PubMed:29507755}. |
Q15599 | NHERF2 | S303 | ochoa|psp | Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (NHERF-2) (NHE3 kinase A regulatory protein E3KARP) (SRY-interacting protein 1) (SIP-1) (Sodium-hydrogen exchanger regulatory factor 2) (Solute carrier family 9 isoform A3 regulatory factor 2) (Tyrosine kinase activator protein 1) (TKA-1) | Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3 (PubMed:18829453). May also act as scaffold protein in the nucleus. {ECO:0000269|PubMed:10455146, ECO:0000269|PubMed:18829453, ECO:0000269|PubMed:9096337}. |
Q16236 | NFE2L2 | S433 | ochoa|psp | Nuclear factor erythroid 2-related factor 2 (NF-E2-related factor 2) (NFE2-related factor 2) (Nrf-2) (Nuclear factor, erythroid derived 2, like 2) | Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). The NFE2L2/NRF2 pathway is also activated during the unfolded protein response (UPR), contributing to redox homeostasis and cell survival following endoplasmic reticulum stress (By similarity). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919). Also plays an important role in the regulation of the innate immune response and antiviral cytosolic DNA sensing. It is a critical regulator of the innate immune response and survival during sepsis by maintaining redox homeostasis and restraint of the dysregulation of pro-inflammatory signaling pathways like MyD88-dependent and -independent and TNF-alpha signaling (By similarity). Suppresses macrophage inflammatory response by blocking pro-inflammatory cytokine transcription and the induction of IL6 (By similarity). Binds to the proximity of pro-inflammatory genes in macrophages and inhibits RNA Pol II recruitment. The inhibition is independent of the NRF2-binding motif and reactive oxygen species level (By similarity). Represses antiviral cytosolic DNA sensing by suppressing the expression of the adapter protein STING1 and decreasing responsiveness to STING1 agonists while increasing susceptibility to infection with DNA viruses (PubMed:30158636). Once activated, limits the release of pro-inflammatory cytokines in response to human coronavirus SARS-CoV-2 infection and to virus-derived ligands through a mechanism that involves inhibition of IRF3 dimerization. Also inhibits both SARS-CoV-2 replication, as well as the replication of several other pathogenic viruses including Herpes Simplex Virus-1 and-2, Vaccinia virus, and Zika virus through a type I interferon (IFN)-independent mechanism (PubMed:33009401). {ECO:0000250|UniProtKB:Q60795, ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:15601839, ECO:0000269|PubMed:19489739, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:29018201, ECO:0000269|PubMed:29590092, ECO:0000269|PubMed:30158636, ECO:0000269|PubMed:31398338, ECO:0000269|PubMed:33009401, ECO:0000269|PubMed:7937919}. |
Q16621 | NFE2 | S346 | psp | Transcription factor NF-E2 45 kDa subunit (Leucine zipper protein NF-E2) (Nuclear factor, erythroid-derived 2 45 kDa subunit) (p45 NF-E2) | Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron. {ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:16287851}. |
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}. |
Q2NKX8 | ERCC6L | S946 | ochoa | DNA excision repair protein ERCC-6-like (EC 3.6.4.12) (ATP-dependent helicase ERCC6-like) (PLK1-interacting checkpoint helicase) (Tumor antigen BJ-HCC-15) | DNA helicase that acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328). {ECO:0000269|PubMed:17218258, ECO:0000269|PubMed:23973328, ECO:0000269|PubMed:28977671}. |
Q58WW2 | DCAF6 | S336 | ochoa | DDB1- and CUL4-associated factor 6 (Androgen receptor complex-associated protein) (ARCAP) (IQ motif and WD repeat-containing protein 1) (Nuclear receptor interaction protein) (NRIP) | Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:15784617, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}. |
Q5CZC0 | FSIP2 | Y347 | ochoa | Fibrous sheath-interacting protein 2 | Plays a role in spermatogenesis. {ECO:0000305|PubMed:30137358}. |
Q5SYC1 | CLVS2 | S293 | ochoa | Clavesin-2 (Retinaldehyde-binding protein 1-like 2) (clathrin vesicle-associated Sec14 protein 2) | Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). {ECO:0000250, ECO:0000269|PubMed:19651769}. |
Q5T011 | SZT2 | S2136 | ochoa | KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog) | As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity). {ECO:0000250|UniProtKB:A2A9C3, ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}. |
Q5T011 | SZT2 | S2458 | ochoa | KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog) | As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity). {ECO:0000250|UniProtKB:A2A9C3, ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}. |
Q5T0Z8 | C6orf132 | S906 | ochoa | Uncharacterized protein C6orf132 | None |
Q5T4F4 | ZFYVE27 | S245 | ochoa | Protrudin (Spastic paraplegia 33 protein) (Zinc finger FYVE domain-containing protein 27) | Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner (PubMed:19289470). Contributes to both the formation and stabilization of the tubular ER network (PubMed:24668814). Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831). Acts as an adapter protein and facilitates the interaction of KIF5A with VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 and the ZFYVE27-KIF5A complex contributes to the transport of these proteins in neurons. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a KIF5A/B-dependent manner (PubMed:21976701). {ECO:0000250|UniProtKB:Q3TXX3, ECO:0000269|PubMed:17082457, ECO:0000269|PubMed:19289470, ECO:0000269|PubMed:21976701, ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24668814}. |
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}. |
Q5THK1 | PRR14L | S945 | ochoa | Protein PRR14L (Proline rich 14-like protein) | None |
Q5UIP0 | RIF1 | S1616 | 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}. |
Q5VT06 | CEP350 | S1061 | 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}. |
Q5VT06 | CEP350 | S1113 | 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}. |
Q5VT06 | CEP350 | S1502 | 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}. |
Q5VT06 | CEP350 | S2482 | 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}. |
Q5VU92 | DCAF12L1 | S23 | ochoa | DDB1- and CUL4-associated factor 12-like protein 1 (WD repeat-containing protein 40B) | None |
Q63HK5 | TSHZ3 | S333 | ochoa | Teashirt homolog 3 (Zinc finger protein 537) | Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). {ECO:0000250|UniProtKB:Q8CGV9, ECO:0000269|PubMed:19343227}. |
Q63HK5 | TSHZ3 | S515 | ochoa | Teashirt homolog 3 (Zinc finger protein 537) | Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). {ECO:0000250|UniProtKB:Q8CGV9, ECO:0000269|PubMed:19343227}. |
Q68DQ2 | CRYBG3 | S457 | 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}. |
Q68DQ2 | CRYBG3 | S931 | 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}. |
Q6AI08 | HEATR6 | S643 | ochoa | HEAT repeat-containing protein 6 (Amplified in breast cancer protein 1) | Amplification-dependent oncogene. |
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 | S418 | 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}. |
Q6WBX8 | RAD9B | S282 | ochoa | Cell cycle checkpoint control protein RAD9B (DNA repair exonuclease rad9 homolog B) (hRAD9B) | None |
Q6WCQ1 | MPRIP | S977 | ochoa | Myosin phosphatase Rho-interacting protein (M-RIP) (Rho-interacting protein 3) (RIP3) (p116Rip) | Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F-actin-binding region leads to disassembly of stress fibers in neuronal cells. {ECO:0000250|UniProtKB:P97434, ECO:0000269|PubMed:15545284, ECO:0000269|PubMed:16257966}. |
Q6ZSB9 | ZBTB49 | S592 | ochoa | Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509) | Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. {ECO:0000269|PubMed:25245946}.; FUNCTION: [Isoform 1]: Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive). {ECO:0000269|PubMed:25245946}.; FUNCTION: [Isoform 3]: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter. {ECO:0000269|PubMed:25245946}. |
Q6ZSZ6 | TSHZ1 | S544 | ochoa | Teashirt homolog 1 (Antigen NY-CO-33) (Serologically defined colon cancer antigen 33) | Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}. |
Q76L83 | ASXL2 | S440 | 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}. |
Q7L804 | RAB11FIP2 | S270 | ochoa | Rab11 family-interacting protein 2 (Rab11-FIP2) (NRip11) | A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity. Plays an essential role in phagocytosis through a mechanism involving TICAM2, RAC1 and CDC42 Rho GTPases for controlling actin-dynamics. {ECO:0000269|PubMed:12364336, ECO:0000269|PubMed:15304524, ECO:0000269|PubMed:16251358, ECO:0000269|PubMed:16775013, ECO:0000269|PubMed:19542231, ECO:0000269|PubMed:30883606}. |
Q7L8S5 | OTUD6A | S240 | psp | OTU domain-containing protein 6A (EC 3.4.19.12) (DUBA-2) | Deubiquitinating enzyme that hydrolyzes 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. {ECO:0000269|PubMed:23827681}. |
Q7Z333 | SETX | S947 | ochoa | Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin) | Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111). {ECO:0000250|UniProtKB:A2AKX3, ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:19515850, ECO:0000269|PubMed:21112256, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:21700224, ECO:0000269|PubMed:24105744, ECO:0000269|PubMed:26700805}. |
Q7Z3E2 | CCDC186 | S139 | ochoa | Coiled-coil domain-containing protein 186 (CTCL tumor antigen HD-CL-01/L14-2) | None |
Q7Z6K3 | PTAR1 | S45 | ochoa | Protein prenyltransferase alpha subunit repeat-containing protein 1 | None |
Q86US8 | SMG6 | S363 | ochoa | Telomerase-binding protein EST1A (EC 3.1.-.-) (Ever shorter telomeres 1A) (hEST1A) (Nonsense mediated mRNA decay factor SMG6) (Smg-6 homolog) (hSmg5/7a) | Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629). {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:12699629, ECO:0000269|PubMed:19179534}.; FUNCTION: Plays a role in nonsense-mediated mRNA decay (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). {ECO:0000269|PubMed:17053788, ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897, ECO:0000269|PubMed:20930030}. |
Q86VS8 | HOOK3 | S162 | ochoa | Protein Hook homolog 3 (h-hook3) (hHK3) | Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Predominantly recruits 2 dyneins, which increases both the force and speed of the microtubule motor (PubMed:25035494, PubMed:33734450). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997). {ECO:0000250|UniProtKB:Q8BUK6, ECO:0000269|PubMed:11238449, ECO:0000269|PubMed:17237231, ECO:0000269|PubMed:18799622, ECO:0000269|PubMed:25035494, ECO:0000269|PubMed:32073997, ECO:0000269|PubMed:33734450}.; FUNCTION: (Microbial infection) May serve as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking. {ECO:0000305}. |
Q86W56 | PARG | S291 | ochoa | Poly(ADP-ribose) glycohydrolase (EC 3.2.1.143) | Poly(ADP-ribose) glycohydrolase that degrades poly(ADP-ribose) by hydrolyzing the ribose-ribose bonds present in poly(ADP-ribose) (PubMed:15450800, PubMed:21892188, PubMed:23102699, PubMed:23474714, PubMed:33186521, PubMed:34019811, PubMed:34321462). PARG acts both as an endo- and exoglycosidase, releasing poly(ADP-ribose) of different length as well as ADP-ribose monomers (PubMed:23102699, PubMed:23481255). It is however unable to cleave the ester bond between the terminal ADP-ribose and ADP-ribosylated residues, leaving proteins that are mono-ADP-ribosylated (PubMed:21892188, PubMed:23474714, PubMed:33186521). Poly(ADP-ribose) is synthesized after DNA damage is only present transiently and is rapidly degraded by PARG (PubMed:23102699, PubMed:34019811). Required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress, while it is not required for recovery from transient replicative stress (PubMed:24906880). Responsible for the prevalence of mono-ADP-ribosylated proteins in cells, thanks to its ability to degrade poly(ADP-ribose) without cleaving the terminal protein-ribose bond (PubMed:33186521). Required for retinoid acid-dependent gene transactivation, probably by removing poly(ADP-ribose) from histone demethylase KDM4D, allowing chromatin derepression at RAR-dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). {ECO:0000269|PubMed:15450800, ECO:0000269|PubMed:21892188, ECO:0000269|PubMed:23102699, ECO:0000269|PubMed:23474714, ECO:0000269|PubMed:23481255, ECO:0000269|PubMed:24906880, ECO:0000269|PubMed:27257257, ECO:0000269|PubMed:33186521, ECO:0000269|PubMed:34019811, ECO:0000269|PubMed:34321462}. |
Q86YW9 | MED12L | S1741 | ochoa | Mediator of RNA polymerase II transcription subunit 12-like protein (Mediator complex subunit 12-like protein) (Thyroid hormone receptor-associated-like protein) (Trinucleotide repeat-containing gene 11 protein-like) | May be a 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 (By similarity). {ECO:0000250}. |
Q8IUW3 | SPATA2L | S290 | ochoa | Spermatogenesis-associated protein 2-like protein (SPATA2-like protein) | None |
Q8IWC1 | MAP7D3 | S461 | ochoa | MAP7 domain-containing protein 3 | Promotes the assembly and stability of microtubules. {ECO:0000269|PubMed:22142902, ECO:0000269|PubMed:24927501}. |
Q8IYW5 | RNF168 | S278 | ochoa | E3 ubiquitin-protein ligase RNF168 (hRNF168) (EC 2.3.2.27) (RING finger protein 168) (RING-type E3 ubiquitin transferase RNF168) | E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively). {ECO:0000255|HAMAP-Rule:MF_03066, ECO:0000269|PubMed:19203578, ECO:0000269|PubMed:19203579, ECO:0000269|PubMed:20550933, ECO:0000269|PubMed:22373579, ECO:0000269|PubMed:22705371, ECO:0000269|PubMed:22713238, ECO:0000269|PubMed:22742833, ECO:0000269|PubMed:22980979, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:27153538}. |
Q8N3D4 | EHBP1L1 | S964 | ochoa | EH domain-binding protein 1-like protein 1 | May act as Rab effector protein and play a role in vesicle trafficking. {ECO:0000305|PubMed:27552051}. |
Q8N3K9 | CMYA5 | S1283 | 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}. |
Q8N3K9 | CMYA5 | S1717 | 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}. |
Q8N490 | PNKD | S57 | ochoa | Probable thioesterase PNKD (EC 3.1.2.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2) | Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid at very low rate, though this reaction is not physiologically relevant in vivo (PubMed:21487022). {ECO:0000269|PubMed:21487022, ECO:0000305|PubMed:21487022}. |
Q8N6Q8 | METTL25 | S265 | ochoa | Probable methyltransferase-like protein 25 (EC 2.1.1.-) | Probable methyltransferase. {ECO:0000305}. |
Q8N8E3 | CEP112 | S195 | ochoa | Centrosomal protein of 112 kDa (Cep112) (Coiled-coil domain-containing protein 46) | None |
Q8NB50 | ZFP62 | S97 | ochoa | Zinc finger protein 62 homolog (Zfp-62) | May play a role in differentiating skeletal muscle. {ECO:0000250}. |
Q8NBW4 | SLC38A9 | S99 | ochoa | Neutral amino acid transporter 9 (Solute carrier family 38 member 9) (Up-regulated in lung cancer 11) | Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels (PubMed:25561175, PubMed:25567906, PubMed:29053970). Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25567906, PubMed:29053970). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:25561175, PubMed:25567906). SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids (PubMed:25561175, PubMed:25567906). Acts as an arginine sensor (PubMed:25567906, PubMed:29053970, PubMed:31295473). Following activation by arginine binding, mediates transport of L-glutamine, leucine and tyrosine with high efficiency, and is required for the efficient utilization of these amino acids after lysosomal protein degradation (PubMed:29053970, PubMed:31295473). However, the transport mechanism is not well defined and the role of sodium is not clear (PubMed:25561175, PubMed:31295473). Can disassemble the lysosomal folliculin complex (LFC), and thereby triggers GAP activity of FLCN:FNIP2 toward RRAGC (PubMed:32868926). Acts as an cholesterol sensor that conveys increases in lysosomal cholesterol, leading to lysosomal recruitment and activation of mTORC1 via the Rag GTPases (PubMed:28336668). Guanine exchange factor (GEF) that, upon arginine binding, stimulates GDP release from RRAGA and therefore activates the Rag GTPase heterodimer and the mTORC1 pathway in response to nutrient sufficiency (PubMed:30181260). {ECO:0000269|PubMed:25561175, ECO:0000269|PubMed:25567906, ECO:0000269|PubMed:28336668, ECO:0000269|PubMed:29053970, ECO:0000269|PubMed:30181260, ECO:0000269|PubMed:31295473, ECO:0000269|PubMed:32868926, ECO:0000305|PubMed:31295473}. |
Q8NEM7 | SUPT20H | S381 | ochoa | Transcription factor SPT20 homolog (p38-interacting protein) (p38IP) | Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy. {ECO:0000250, ECO:0000269|PubMed:19893488}. |
Q8NEV8 | EXPH5 | S393 | ochoa | Exophilin-5 (Synaptotagmin-like protein homolog lacking C2 domains b) (SlaC2-b) (Slp homolog lacking C2 domains b) | May act as Rab effector protein and play a role in vesicle trafficking. |
Q8NF91 | SYNE1 | S5989 | ochoa | Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1) | Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. {ECO:0000250|UniProtKB:Q6ZWR6, ECO:0000269|PubMed:11792814, ECO:0000269|PubMed:18396275}. |
Q8TB45 | DEPTOR | S235 | ochoa|psp | DEP domain-containing mTOR-interacting protein (hDEPTOR) (DEP domain-containing protein 6) | Negative regulator of the mTORC1 and mTORC2 complexes: inhibits the protein kinase activity of MTOR, thereby inactivating both complexes (PubMed:19446321, PubMed:22017875, PubMed:22017876, PubMed:22017877, PubMed:25936805, PubMed:29382726, PubMed:34519268, PubMed:34519269). DEPTOR inhibits mTORC1 and mTORC2 to induce autophagy (PubMed:22017875, PubMed:22017876, PubMed:22017877). In contrast to AKT1S1/PRAS40, only partially inhibits mTORC1 activity (PubMed:34519268, PubMed:34519269). {ECO:0000269|PubMed:19446321, ECO:0000269|PubMed:22017875, ECO:0000269|PubMed:22017876, ECO:0000269|PubMed:22017877, ECO:0000269|PubMed:25936805, ECO:0000269|PubMed:29382726, ECO:0000269|PubMed:34519268, ECO:0000269|PubMed:34519269}. |
Q8TB61 | SLC35B2 | S137 | ochoa | Adenosine 3'-phospho 5'-phosphosulfate transporter 1 (PAPS transporter 1) (Putative MAPK-activating protein PM15) (Putative NF-kappa-B-activating protein 48) (Solute carrier family 35 member B2) | Probably functions as a 3'-phosphoadenylyl sulfate:adenosine 3',5'-bisphosphate antiporter at the Golgi membranes. Mediates the transport from the cytosol into the lumen of the Golgi of 3'-phosphoadenylyl sulfate/adenosine 3'-phospho 5'-phosphosulfate (PAPS), a universal sulfuryl donor for sulfation events that take place in that compartment. {ECO:0000269|PubMed:12716889}. |
Q8TDJ6 | DMXL2 | S588 | ochoa | DmX-like protein 2 (Rabconnectin-3) | May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). {ECO:0000250|UniProtKB:Q8BPN8, ECO:0000269|PubMed:11809763}. |
Q8TF30 | WHAMM | S606 | ochoa | WASP homolog-associated protein with actin, membranes and microtubules (WAS protein homology region 2 domain-containing protein 1) (WH2 domain-containing protein 1) | Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration. {ECO:0000269|PubMed:18614018, ECO:0000269|PubMed:23027905, ECO:0000269|PubMed:23087206}. |
Q8TF46 | DIS3L | S989 | ochoa | DIS3-like exonuclease 1 (EC 3.1.13.1) | 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 (PubMed:20531386, PubMed:20531389, PubMed:37602378). 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 (PubMed:20531386, PubMed:20531389). {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389, ECO:0000269|PubMed:37602378}. |
Q8WUM9 | SLC20A1 | S265 | ochoa | Sodium-dependent phosphate transporter 1 (Gibbon ape leukemia virus receptor 1) (GLVR-1) (Leukemia virus receptor 1 homolog) (Phosphate transporter 1) (PiT-1) (Solute carrier family 20 member 1) | Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:11009570, PubMed:16790504, PubMed:17494632, PubMed:19726692, PubMed:7929240, PubMed:8041748). May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification (PubMed:11009570). Essential for cell proliferation but this function is independent of its phosphate transporter activity (PubMed:19726692). {ECO:0000269|PubMed:11009570, ECO:0000269|PubMed:16790504, ECO:0000269|PubMed:17494632, ECO:0000269|PubMed:19726692, ECO:0000269|PubMed:7929240, ECO:0000269|PubMed:8041748}.; FUNCTION: (Microbial infection) May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV). {ECO:0000269|PubMed:12097582, ECO:0000269|PubMed:1309898, ECO:0000269|PubMed:2078500, ECO:0000269|PubMed:7966619}. |
Q8WUY3 | PRUNE2 | S1842 | 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}. |
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}. |
Q8WX93 | PALLD | S979 | ochoa | Palladin (SIH002) (Sarcoma antigen NY-SAR-77) | Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci. {ECO:0000269|PubMed:11598191, ECO:0000269|PubMed:15147863, ECO:0000269|PubMed:17537434}. |
Q92817 | EVPL | S1698 | 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. |
Q92830 | KAT2A | S372 | psp | Histone acetyltransferase KAT2A (EC 2.3.1.48) (General control of amino acid synthesis protein 5-like 2) (Histone acetyltransferase GCN5) (hGCN5) (Histone glutaryltransferase KAT2A) (EC 2.3.1.-) (Histone succinyltransferase KAT2A) (EC 2.3.1.-) (Lysine acetyltransferase 2A) (STAF97) | Protein lysine acyltransferase that can act as a acetyltransferase, glutaryltransferase, succinyltransferase or malonyltransferase, depending on the context (PubMed:29211711, PubMed:35995428). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755, PubMed:21131905). Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac) (PubMed:21131905). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Recruited by the XPC complex at promoters, where it specifically mediates acetylation of histone variant H2A.Z.1/H2A.Z, thereby promoting expression of target genes (PubMed:29973595, PubMed:31527837). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at 'Lys-9' (H3K9ac), leading to promote IL2 expression (By similarity). Required for growth and differentiation of craniofacial cartilage and bone by regulating acetylation of histone H3 at 'Lys-9' (H3K9ac) (By similarity). Regulates embryonic stem cell (ESC) pluripotency and differentiation (By similarity). Also acetylates non-histone proteins, such as CEBPB, MRE11, PPARGC1A, PLK4 and TBX5 (PubMed:16753578, PubMed:17301242, PubMed:27796307, PubMed:29174768, PubMed:38128537). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acts as a negative regulator of gluconeogenesis by mediating acetylation and subsequent inactivation of PPARGC1A (PubMed:16753578, PubMed:23142079). Also acts as a histone glutaryltransferase: catalyzes glutarylation of histone H4 on 'Lys-91' (H4K91glu), a mark that destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes (PubMed:31542297). {ECO:0000250|UniProtKB:Q9JHD2, ECO:0000269|PubMed:16753578, ECO:0000269|PubMed:17301242, ECO:0000269|PubMed:19103755, ECO:0000269|PubMed:21131905, ECO:0000269|PubMed:23142079, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:29211711, ECO:0000269|PubMed:29973595, ECO:0000269|PubMed:31527837, ECO:0000269|PubMed:31542297, ECO:0000269|PubMed:35995428, ECO:0000269|PubMed:38128537}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. {ECO:0000269|PubMed:11384967}. |
Q92995 | USP13 | S630 | ochoa | Ubiquitin carboxyl-terminal hydrolase 13 (EC 3.4.19.12) (Deubiquitinating enzyme 13) (Isopeptidase T-3) (ISOT-3) (Ubiquitin thioesterase 13) (Ubiquitin-specific-processing protease 13) | Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy, endoplasmic reticulum-associated degradation (ERAD), cell cycle progression or DNA damage response (PubMed:21571647, PubMed:32772043, PubMed:33592542). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Alternatively, forms with NEDD4 a deubiquitination complex, which subsequently stabilizes VPS34 to promote autophagy (PubMed:32101753). Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34-containing complexes regulate USP13 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Recruited by nuclear UFD1 and mediates deubiquitination of SKP2, thereby regulating endoplasmic reticulum-associated degradation (ERAD). Also regulates ERAD through the deubiquitination of UBL4A a component of the BAG6/BAT3 complex. Mediates stabilization of SIAH2 independently of deubiquitinase activity: binds ubiquitinated SIAH2 and acts by impairing SIAH2 autoubiquitination. Regulates the cell cycle progression by stabilizing cell cycle proteins such as SKP2 and AURKB (PubMed:32772043). In addition, plays an important role in maintaining genomic stability and in DNA replication checkpoint activation via regulation of RAP80 and TOPBP1 (PubMed:33592542). Deubiquitinates the multifunctional protein HMGB1 and subsequently drives its nucleocytoplasmic localization and its secretion (PubMed:36585612). Positively regulates type I and type II interferon signalings by deubiquitinating STAT1 but negatively regulates antiviral response by deubiquitinating STING1 (PubMed:23940278, PubMed:28534493). {ECO:0000269|PubMed:17653289, ECO:0000269|PubMed:21571647, ECO:0000269|PubMed:21659512, ECO:0000269|PubMed:21811243, ECO:0000269|PubMed:21962518, ECO:0000269|PubMed:22216260, ECO:0000269|PubMed:24424410, ECO:0000269|PubMed:28534493, ECO:0000269|PubMed:32101753, ECO:0000269|PubMed:32772043, ECO:0000269|PubMed:33592542, ECO:0000269|PubMed:36585612}. |
Q93075 | TATDN2 | S299 | ochoa | 3'-5' RNA nuclease TATDN2 (EC 3.1.13.-) (TatD DNase domain containing 2) | Mg(2+)-dependent 3'RNA exonuclease and endonuclease that resolves R-loops via specific degradation of R-loop RNA stucture (PubMed:37953292). Shows no activity against D-loop and minimal activity against the RNA strand of an RNA-DNA hybrid duplex oligomer. Has no 3' or 5' exonuclease activity, no uracil glycosylase activity, and no 5' flap endonuclease activity on DNA substrates (PubMed:37953292). May have a role in maintaining genomic stability through its role in R-loop resolution (PubMed:37953292). {ECO:0000269|PubMed:37953292}. |
Q96A49 | SYAP1 | S269 | ochoa | Synapse-associated protein 1 (BSD domain-containing signal transducer and Akt interactor protein) (BSTA) | Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at 'Ser-473' after growth factor stimulation (PubMed:23300339). {ECO:0000269|PubMed:23300339}. |
Q96BY6 | DOCK10 | S877 | 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}. |
Q96C24 | SYTL4 | S74 | ochoa | Synaptotagmin-like protein 4 (Exophilin-2) (Granuphilin) | Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity). {ECO:0000250}. |
Q96DT6 | ATG4C | S369 | ochoa | Cysteine protease ATG4C (EC 3.4.22.-) (AUT-like 3 cysteine endopeptidase) (Autophagy-related cysteine endopeptidase 3) (Autophagin-3) (Autophagy-related protein 4 homolog C) (HsAPG4C) | Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins (PubMed:21177865, PubMed:29458288, PubMed:30661429). The protease activity is required for proteolytic activation of ATG8 family proteins: cleaves the C-terminal amino acid of ATG8 proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine (PubMed:21177865). Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy (By similarity). In addition to the protease activity, also mediates delipidation of ATG8 family proteins (PubMed:29458288, PubMed:33909989). Catalyzes delipidation of PE-conjugated forms of ATG8 proteins during macroautophagy (PubMed:29458288, PubMed:33909989). Compared to ATG4B, the major protein for proteolytic activation of ATG8 proteins, shows weaker ability to cleave the C-terminal amino acid of ATG8 proteins, while it displays stronger delipidation activity (PubMed:29458288). In contrast to other members of the family, weakly or not involved in phagophore growth during mitophagy (PubMed:33773106). {ECO:0000250|UniProtKB:Q9Y4P1, ECO:0000269|PubMed:21177865, ECO:0000269|PubMed:29458288, ECO:0000269|PubMed:30661429, ECO:0000269|PubMed:33773106, ECO:0000269|PubMed:33909989}. |
Q96EK9 | KTI12 | S184 | ochoa | Protein KTI12 homolog | None |
Q96LT9 | RNPC3 | S108 | ochoa | RNA-binding region-containing protein 3 (RNA-binding motif protein 40) (RNA-binding protein 40) (U11/U12 small nuclear ribonucleoprotein 65 kDa protein) (U11/U12 snRNP 65 kDa protein) (U11/U12-65K) | Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA. {ECO:0000269|PubMed:16096647, ECO:0000269|PubMed:19447915, ECO:0000269|PubMed:24480542, ECO:0000269|PubMed:29255062}. |
Q96RG2 | PASK | S524 | ochoa | PAS domain-containing serine/threonine-protein kinase (PAS-kinase) (PASKIN) (hPASK) (EC 2.7.11.1) | Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate in respiratory regulation. {ECO:0000269|PubMed:16275910, ECO:0000269|PubMed:17052199, ECO:0000269|PubMed:17595531, ECO:0000269|PubMed:20943661, ECO:0000269|PubMed:21181396, ECO:0000269|PubMed:21418524}. |
Q96RL7 | VPS13A | S1348 | ochoa | Intermembrane lipid transfer protein VPS13A (Chorea-acanthocytosis protein) (Chorein) (Vacuolar protein sorting-associated protein 13A) | Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847). {ECO:0000250|UniProtKB:Q07878, ECO:0000269|PubMed:30709847, ECO:0000269|PubMed:30741634, ECO:0000269|PubMed:34830155}. |
Q96T88 | UHRF1 | S287 | ochoa | 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}. |
Q99708 | RBBP8 | S163 | ochoa | DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2) | Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:23273981, PubMed:26721387, PubMed:27814491, PubMed:27889449, PubMed:30787182). HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse (PubMed:17965729, PubMed:19202191, PubMed:23273981, PubMed:27814491, PubMed:27889449, PubMed:30787182). Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ) (PubMed:19202191). Specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts: recruited to DSBs by NBN following phosphorylation by CDK1, and promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends (PubMed:27814491, PubMed:27889449, PubMed:30787182, PubMed:33836577). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA (PubMed:16581787, PubMed:17965729, PubMed:19759395, PubMed:20064462). Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:15485915, PubMed:16818604). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity). Binds preferentially to DNA Y-junctions and to DNA substrates with blocked ends and promotes intermolecular DNA bridging (PubMed:30601117). {ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:15485915, ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191, ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462, ECO:0000269|PubMed:23273981, ECO:0000269|PubMed:26721387, ECO:0000269|PubMed:27814491, ECO:0000269|PubMed:27889449, ECO:0000269|PubMed:30601117, ECO:0000269|PubMed:30787182, ECO:0000269|PubMed:33836577}. |
Q9BQ52 | ELAC2 | S618 | ochoa | Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2) | Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694). {ECO:0000269|PubMed:21593607, ECO:0000269|PubMed:24703694}. |
Q9BQA1 | WDR77 | S176 | ochoa | Methylosome protein WDR77 (Androgen receptor cofactor p44) (Methylosome protein 50) (MEP-50) (WD repeat-containing protein 77) (p44/Mep50) | Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (PubMed:11756452). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (PubMed:23071334). {ECO:0000269|PubMed:11756452, ECO:0000269|PubMed:23071334}. |
Q9BSG1 | ZNF2 | S119 | ochoa | Zinc finger protein 2 (Zinc finger protein 2.2) (Zinc finger protein 661) | May be involved in transcriptional regulation. |
Q9BTC0 | DIDO1 | S523 | ochoa | Death-inducer obliterator 1 (DIO-1) (hDido1) (Death-associated transcription factor 1) (DATF-1) | Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development. {ECO:0000250, ECO:0000269|PubMed:16127461}.; FUNCTION: [Isoform 2]: Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes. {ECO:0000269|PubMed:16127461}. |
Q9BXL7 | CARD11 | S535 | ochoa | Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1) | Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways (PubMed:11356195). Upon activation in response to TCR or BCR triggering, CARD11 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation (PubMed:24074955). Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Promotes linear ubiquitination of BCL10 by promoting the targeting of BCL10 to RNF31/HOIP (PubMed:27777308). Stimulates the phosphorylation of BCL10 (PubMed:11356195). Also activates the TORC1 signaling pathway (PubMed:28628108). {ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:11356195, ECO:0000269|PubMed:12356734, ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:24074955, ECO:0000269|PubMed:27777308, ECO:0000269|PubMed:28628108}. |
Q9BXS5 | AP1M1 | S47 | ochoa | AP-1 complex subunit mu-1 (AP-mu chain family member mu1A) (Adaptor protein complex AP-1 subunit mu-1) (Adaptor-related protein complex 1 subunit mu-1) (Clathrin assembly protein complex 1 mu-1 medium chain 1) (Clathrin coat assembly protein AP47) (Clathrin coat-associated protein AP47) (Golgi adaptor HA1/AP1 adaptin mu-1 subunit) (Mu-adaptin 1) (Mu1A-adaptin) | Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. |
Q9BYW2 | SETD2 | S754 | ochoa | Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) | Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}. |
Q9H040 | SPRTN | S268 | ochoa | DNA-dependent metalloprotease SPRTN (EC 3.4.24.-) (DNA damage protein targeting VCP) (DVC1) (Protein with SprT-like domain at the N terminus) (Spartan) | DNA-dependent metalloendopeptidase 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:27852435, PubMed:27871365, PubMed:27871366, PubMed:30893605, PubMed:32649882, PubMed:36608669). 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:27852435, PubMed:27871365, PubMed:27871366, PubMed:32649882, PubMed:36608669). Associates with the DNA replication machinery and specifically removes DPCs during DNA synthesis (PubMed:27852435, PubMed:27871365, PubMed:27871366, PubMed:32649882). Catalyzes proteolytic cleavage of the HMCES DNA-protein cross-link following unfolding by the BRIP1/FANCJ helicase (PubMed:36608669). Acts as a pleiotropic protease for DNA-binding proteins cross-linked with DNA, such as TOP1, TOP2A, histones H3 and H4 (PubMed:27871366). Mediates degradation of DPCs that are not ubiquitinated, while it is not able to degrade ubiquitinated DPCs (By similarity). SPRTN activation requires polymerase collision with DPCs followed by helicase bypass of DPCs (By similarity). Involved in recruitment of VCP/p97 to sites of DNA damage (PubMed:22902628, PubMed:23042605, PubMed:23042607, PubMed:32152270). Also acts as an activator of CHEK1 during normal DNA replication by mediating proteolytic cleavage of CHEK1, thereby promoting CHEK1 removal from chromatin and subsequent activation (PubMed:31316063). Does not activate CHEK1 in response to DNA damage (PubMed:31316063). May also act as a 'reader' of ubiquitinated PCNA: recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA (PubMed:22681887, PubMed:22894931, PubMed:22902628, PubMed:22987070). Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis (PubMed:22681887). {ECO:0000250|UniProtKB:A0A1L8G2K9, ECO:0000269|PubMed:22681887, ECO:0000269|PubMed:22894931, ECO:0000269|PubMed:22902628, ECO:0000269|PubMed:22987070, ECO:0000269|PubMed:23042605, ECO:0000269|PubMed:23042607, ECO:0000269|PubMed:27852435, ECO:0000269|PubMed:27871365, ECO:0000269|PubMed:27871366, ECO:0000269|PubMed:30893605, ECO:0000269|PubMed:31316063, ECO:0000269|PubMed:32152270, ECO:0000269|PubMed:32649882, ECO:0000269|PubMed:36608669}. |
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}. |
Q9H2C0 | GAN | S174 | ochoa | Gigaxonin (Kelch-like protein 16) | Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival. {ECO:0000269|PubMed:12147674, ECO:0000269|PubMed:15983046, ECO:0000269|PubMed:16227972, ECO:0000269|PubMed:16303566}. |
Q9H4D5 | NXF3 | S283 | ochoa | Nuclear RNA export factor 3 (TAP-like protein 3) (TAPL-3) | May function as a tissue-specific nuclear mRNA export factor. |
Q9H582 | ZNF644 | S1000 | ochoa | Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2) | May be involved in transcriptional regulation. |
Q9H5Y7 | SLITRK6 | S652 | ochoa | SLIT and NTRK-like protein 6 | Regulator of neurite outgrowth required for normal hearing and vision. {ECO:0000269|PubMed:23543054}. |
Q9H6S1 | AZI2 | S353 | ochoa | 5-azacytidine-induced protein 2 (NF-kappa-B-activating kinase-associated protein 1) (Nak-associated protein 1) (Nap1) (TILP) | Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity (PubMed:14560022, PubMed:21931631). Activates serine/threonine-protein kinase TBK1 and facilitates its oligomerization (PubMed:14560022, PubMed:21931631). Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1 (PubMed:14560022, PubMed:21931631). Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B (PubMed:14560022, PubMed:21931631). Participates in IFNB promoter activation via TICAM1 (PubMed:15611223). {ECO:0000269|PubMed:14560022, ECO:0000269|PubMed:15611223, ECO:0000269|PubMed:21931631}. |
Q9H8M5 | CNNM2 | S743 | ochoa | Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2) | Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). {ECO:0000250|UniProtKB:Q3TWN3}. |
Q9HBD1 | RC3H2 | S837 | ochoa | Roquin-2 (EC 2.3.2.27) (Membrane-associated nucleic acid-binding protein) (RING finger and CCCH-type zinc finger domain-containing protein 2) (RING finger protein 164) (RING-type E3 ubiquitin transferase Roquin-2) | 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 and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. 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. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H1, possibly leading to feedback loop regulation (By similarity). 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). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2B, UBE2D2, UBE2E2, UBE2E3, UBE2G2, UBE2K and UBE2Q2 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). Involved in the ubiquitination of MAP3K5 (PubMed:24448648, PubMed:26489670, PubMed:29186683). Able to interact with double-stranded RNA (dsRNA) (PubMed:26489670). {ECO:0000250|UniProtKB:P0C090, ECO:0000269|PubMed:24448648, ECO:0000269|PubMed:26489670, ECO:0000269|PubMed:29186683}. |
Q9HCH5 | SYTL2 | S437 | ochoa | Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4) | Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive. {ECO:0000269|PubMed:17182843, ECO:0000269|PubMed:18266782, ECO:0000269|PubMed:18812475}. |
Q9HCH5 | SYTL2 | S460 | ochoa | Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4) | Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive. {ECO:0000269|PubMed:17182843, ECO:0000269|PubMed:18266782, ECO:0000269|PubMed:18812475}. |
Q9NP74 | PALMD | S498 | ochoa | Palmdelphin (Paralemmin-like protein) | None |
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}. |
Q9NQC3 | RTN4 | S863 | ochoa | Reticulon-4 (Foocen) (Neurite outgrowth inhibitor) (Nogo protein) (Neuroendocrine-specific protein) (NSP) (Neuroendocrine-specific protein C homolog) (RTN-x) (Reticulon-5) | Required to induce the formation and stabilization of endoplasmic reticulum (ER) tubules (PubMed:24262037, PubMed:25612671, PubMed:27619977). They regulate membrane morphogenesis in the ER by promoting tubular ER production (PubMed:24262037, PubMed:25612671, PubMed:27619977, PubMed:27786289). They influence nuclear envelope expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412). However each isoform have specific functions mainly depending on their tissue expression specificities (Probable). {ECO:0000269|PubMed:24262037, ECO:0000269|PubMed:25612671, ECO:0000269|PubMed:26906412, ECO:0000269|PubMed:27619977, ECO:0000269|PubMed:27786289, ECO:0000305}.; FUNCTION: [Isoform A]: Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS (PubMed:10667797, PubMed:11201742). Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Acts as a negative regulator of central nervous system angiogenesis. Inhibits spreading, migration and sprouting of primary brain microvascular endothelial cells (MVECs). Also induces the retraction of MVECs lamellipodia and filopodia in a ROCK pathway-dependent manner (By similarity). {ECO:0000250|UniProtKB:Q99P72, ECO:0000269|PubMed:10667797, ECO:0000269|PubMed:11201742, ECO:0000269|PubMed:19699797}.; FUNCTION: [Isoform B]: Mainly function in endothelial cells and vascular smooth muscle cells, is also involved in immune system regulation (Probable). Modulator of vascular remodeling, promotes the migration of endothelial cells but inhibits the migration of vascular smooth muscle cells. Regulates endothelial sphingolipid biosynthesis with direct effects on vascular function and blood pressure. Inhibits serine palmitoyltransferase, SPTLC1, the rate-limiting enzyme of the novo sphingolipid biosynthetic pathway, thereby controlling production of endothelial sphingosine-1-phosphate (S1P). Required to promote macrophage homing and functions such as cytokine/chemokine gene expression involved in angiogenesis, arteriogenesis and tissue repair. Mediates ICAM1 induced transendothelial migration of leukocytes such as monocytes and neutrophils and acute inflammation. Necessary for immune responses triggered by nucleic acid sensing TLRs, such as TLR9, is required for proper TLR9 location to endolysosomes. Also involved in immune response to LPS. Plays a role in liver regeneration through the modulation of hepatocytes proliferation (By similarity). Reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration (PubMed:11126360). With isoform C, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550). {ECO:0000250|UniProtKB:Q99P72, ECO:0000269|PubMed:11126360, ECO:0000269|PubMed:16965550, ECO:0000305}.; FUNCTION: [Isoform C]: Regulates cardiomyocyte apoptosis upon hypoxic conditions (By similarity). With isoform B, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550). {ECO:0000250|UniProtKB:Q99P72, ECO:0000269|PubMed:16965550}. |
Q9NQG6 | MIEF1 | S79 | ochoa | Mitochondrial dynamics protein MIEF1 (Mitochondrial dynamics protein of 51 kDa) (Mitochondrial elongation factor 1) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like) (SMCR7-like protein) | Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics (PubMed:21701560, PubMed:23921378, PubMed:33632269). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:24515348, ECO:0000269|PubMed:29083303, ECO:0000269|PubMed:33632269}. |
Q9NR48 | ASH1L | S22 | ochoa | Histone-lysine N-methyltransferase ASH1L (EC 2.1.1.359) (EC 2.1.1.367) (ASH1-like protein) (huASH1) (Absent small and homeotic disks protein 1 homolog) (Lysine N-methyltransferase 2H) | Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity). {ECO:0000250|UniProtKB:Q99MY8, ECO:0000269|PubMed:21239497}. |
Q9NTI5 | PDS5B | S1191 | ochoa | Sister chromatid cohesion protein PDS5 homolog B (Androgen-induced proliferation inhibitor) (Androgen-induced prostate proliferative shutoff-associated protein AS3) | Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells. {ECO:0000269|PubMed:10963680, ECO:0000269|PubMed:15855230, ECO:0000269|PubMed:19696148}. |
Q9NTJ3 | SMC4 | S1059 | ochoa | Structural maintenance of chromosomes protein 4 (SMC protein 4) (SMC-4) (Chromosome-associated polypeptide C) (hCAP-C) (XCAP-C homolog) | Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. {ECO:0000269|PubMed:11136719}. |
Q9NUA8 | ZBTB40 | S728 | ochoa | Zinc finger and BTB domain-containing protein 40 | May be involved in transcriptional regulation. |
Q9NVG8 | TBC1D13 | S184 | ochoa | TBC1 domain family member 13 | Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes. {ECO:0000250|UniProtKB:Q8R3D1}. |
Q9NY74 | ETAA1 | S464 | ochoa | Ewing's tumor-associated antigen 1 (Ewing's tumor-associated antigen 16) | Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723717, PubMed:27723720). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723717, PubMed:27723720, PubMed:30139873). Probably only regulates a subset of ATR targets (PubMed:27723717, PubMed:27723720). {ECO:0000269|PubMed:27601467, ECO:0000269|PubMed:27723717, ECO:0000269|PubMed:27723720, ECO:0000269|PubMed:30139873}. |
Q9NYV6 | RRN3 | S44 | ochoa|psp | RNA polymerase I-specific transcription initiation factor RRN3 (Transcription initiation factor IA) (TIF-IA) | Required for efficient transcription initiation by RNA polymerase I (Pol I). Required for the formation of the competent pre-initiation complex (PIC). {ECO:0000250, ECO:0000269|PubMed:10758157, ECO:0000269|PubMed:11250903, ECO:0000269|PubMed:11265758, ECO:0000269|PubMed:15805466}. |
Q9NZJ5 | EIF2AK3 | S879 | psp | Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK) (Protein tyrosine kinase EIF2AK3) (EC 2.7.10.2) | 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, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:10677345, PubMed:11907036, PubMed:12086964, PubMed:25925385, PubMed:31023583). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognizes and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation (PubMed:10677345, PubMed:27917829, PubMed:31023583). 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 activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:10026192, PubMed:10677345, PubMed:31023583, PubMed:33384352). The EIF2AK3/PERK-mediated unfolded protein response increases mitochondrial oxidative phosphorylation by promoting ATF4-mediated expression of COX7A2L/SCAF1, thereby increasing formation of respiratory chain supercomplexes (PubMed:31023583). In contrast to most subcellular compartments, mitochondria are protected from the EIF2AK3/PERK-mediated unfolded protein response due to EIF2AK3/PERK inhibition by ATAD3A at mitochondria-endoplasmic reticulum contact sites (PubMed:39116259). In addition to EIF2S1/eIF-2-alpha, also phosphorylates NFE2L2/NRF2 in response to stress, promoting release of NFE2L2/NRF2 from the BCR(KEAP1) complex, leading to nuclear accumulation and activation of NFE2L2/NRF2 (By similarity). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1) (By similarity). Involved in control of mitochondrial morphology and function (By similarity). {ECO:0000250|UniProtKB:Q9Z2B5, ECO:0000269|PubMed:10026192, ECO:0000269|PubMed:10677345, ECO:0000269|PubMed:11907036, ECO:0000269|PubMed:12086964, ECO:0000269|PubMed:25925385, ECO:0000269|PubMed:27917829, ECO:0000269|PubMed:31023583, ECO:0000269|PubMed:33384352, ECO:0000269|PubMed:39116259}. |
Q9P0W8 | SPATA7 | S179 | ochoa | Spermatogenesis-associated protein 7 (HSD-3.1) (Spermatogenesis-associated protein HSD3) | Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity). {ECO:0000250|UniProtKB:Q80VP2}. |
Q9P219 | CCDC88C | S1683 | ochoa | Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2) | Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426). {ECO:0000269|PubMed:26126266, ECO:0000269|PubMed:30948426}. |
Q9UBU7 | DBF4 | S613 | ochoa | Protein DBF4 homolog A (Activator of S phase kinase) (Chiffon homolog A) (DBF4-type zinc finger-containing protein 1) | Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle. {ECO:0000269|PubMed:10373557, ECO:0000269|PubMed:10523313, ECO:0000269|PubMed:17062569}. |
Q9UDY8 | MALT1 | S123 | ochoa | Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (EC 3.4.22.-) (MALT lymphoma-associated translocation) (Paracaspase) | Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion (PubMed:11262391, PubMed:18264101). Involved in the induction of T helper 17 cells (Th17) differentiation (PubMed:11262391, PubMed:18264101). Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation (PubMed:31133753). May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475). {ECO:0000250|UniProtKB:Q2TBA3, ECO:0000269|PubMed:11262391, ECO:0000269|PubMed:14695475, ECO:0000269|PubMed:18264101, ECO:0000269|PubMed:24074955, ECO:0000269|PubMed:31133753}. |
Q9UGU0 | TCF20 | S1262 | ochoa | Transcription factor 20 (TCF-20) (Nuclear factor SPBP) (Protein AR1) (Stromelysin-1 PDGF-responsive element-binding protein) (SPRE-binding protein) | Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator. {ECO:0000269|PubMed:10995766}. |
Q9UJX5 | ANAPC4 | S488 | ochoa | Anaphase-promoting complex subunit 4 (APC4) (Cyclosome subunit 4) | 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}. |
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}. |
Q9UPR3 | SMG5 | S536 | ochoa | Nonsense-mediated mRNA decay factor SMG5 (EST1-like protein B) (LPTS-RP1) (LPTS-interacting protein) (SMG-5 homolog) (hSMG-5) | Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity. {ECO:0000269|PubMed:17053788}. |
Q9UPS6 | SETD1B | S211 | 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}. |
Q9UPV0 | CEP164 | S1213 | ochoa | Centrosomal protein of 164 kDa (Cep164) | Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. {ECO:0000269|PubMed:17954613, ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:23348840}. |
Q9UPY3 | DICER1 | S1728 | psp | Endoribonuclease Dicer (EC 3.1.26.3) (Helicase with RNase motif) (Helicase MOI) | Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. {ECO:0000269|PubMed:15242644, ECO:0000269|PubMed:15973356, ECO:0000269|PubMed:16142218, ECO:0000269|PubMed:16271387, ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:16357216, ECO:0000269|PubMed:16424907, ECO:0000269|PubMed:17452327, ECO:0000269|PubMed:18178619}. |
Q9UPZ3 | HPS5 | S602 | ochoa | BLOC-2 complex member HPS5 (Alpha-integrin-binding protein 63) (Hermansky-Pudlak syndrome 5 protein) (Ruby-eye protein 2 homolog) (Ru2) | May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. {ECO:0000269|PubMed:15296495, ECO:0000269|PubMed:17301833}. |
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}. |
Q9UQR1 | ZNF148 | S412 | ochoa | Zinc finger protein 148 (Transcription factor ZBP-89) (Zinc finger DNA-binding protein 89) | Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes. |
Q9Y2G0 | EFR3B | S214 | ochoa | Protein EFR3 homolog B | Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825, ECO:0000269|PubMed:25608530, ECO:0000269|PubMed:26571211, ECO:0000305}. |
Q9Y2J2 | EPB41L3 | S762 | ochoa | Band 4.1-like protein 3 (4.1B) (Differentially expressed in adenocarcinoma of the lung protein 1) (DAL-1) (Erythrocyte membrane protein band 4.1-like 3) [Cleaved into: Band 4.1-like protein 3, N-terminally processed] | Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. {ECO:0000269|PubMed:15334060, ECO:0000269|PubMed:15737618, ECO:0000269|PubMed:16420693, ECO:0000269|PubMed:9892180}. |
Q9Y3R0 | GRIP1 | S996 | ochoa | Glutamate receptor-interacting protein 1 (GRIP-1) | May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). {ECO:0000250|UniProtKB:P97879, ECO:0000269|PubMed:10197531}. |
Q9Y3S1 | WNK2 | S560 | ochoa | Serine/threonine-protein kinase WNK2 (EC 2.7.11.1) (Antigen NY-CO-43) (Protein kinase lysine-deficient 2) (Protein kinase with no lysine 2) (Serologically defined colon cancer antigen 43) | Serine/threonine-protein kinase component of the WNK2-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation (PubMed:17667937, PubMed:18593598, PubMed:21733846). The WNK2-SPAK/OSR1 kinase cascade is composed of WNK2, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (By similarity). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters, regulating their activity (By similarity). Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (PubMed:21733846). Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5 (PubMed:21733846). Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression (PubMed:17667937, PubMed:18593598). Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1 (PubMed:17667937, PubMed:18593598). WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity (PubMed:17667937, PubMed:18593598). {ECO:0000250|UniProtKB:Q9H4A3, ECO:0000269|PubMed:17667937, ECO:0000269|PubMed:18593598, ECO:0000269|PubMed:21733846}. |
Q9Y3S1 | WNK2 | S1777 | ochoa | Serine/threonine-protein kinase WNK2 (EC 2.7.11.1) (Antigen NY-CO-43) (Protein kinase lysine-deficient 2) (Protein kinase with no lysine 2) (Serologically defined colon cancer antigen 43) | Serine/threonine-protein kinase component of the WNK2-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation (PubMed:17667937, PubMed:18593598, PubMed:21733846). The WNK2-SPAK/OSR1 kinase cascade is composed of WNK2, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (By similarity). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters, regulating their activity (By similarity). Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (PubMed:21733846). Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5 (PubMed:21733846). Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression (PubMed:17667937, PubMed:18593598). Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1 (PubMed:17667937, PubMed:18593598). WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity (PubMed:17667937, PubMed:18593598). {ECO:0000250|UniProtKB:Q9H4A3, ECO:0000269|PubMed:17667937, ECO:0000269|PubMed:18593598, ECO:0000269|PubMed:21733846}. |
Q9Y4F4 | TOGARAM1 | S863 | ochoa | TOG array regulator of axonemal microtubules protein 1 (Crescerin-1) (Protein FAM179B) | Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity). {ECO:0000250|UniProtKB:Q17423, ECO:0000250|UniProtKB:Q6A070, ECO:0000269|PubMed:32453716}. |
Q9Y5S1 | TRPV2 | S741 | ochoa | Transient receptor potential cation channel subfamily V member 2 (TrpV2) (Osm-9-like TRP channel 2) (OTRPC2) (Vanilloid receptor-like protein 1) (VRL-1) | Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF1, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH. {ECO:0000269|PubMed:10201375}. |
Q9Y6K5 | OAS3 | S792 | ochoa | 2'-5'-oligoadenylate synthase 3 ((2-5')oligo(A) synthase 3) (2-5A synthase 3) (EC 2.7.7.84) (p100 OAS) (p100OAS) | Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV). {ECO:0000269|PubMed:19056102, ECO:0000269|PubMed:19923450, ECO:0000269|PubMed:9880533}. |
Q9Y6R4 | MAP3K4 | S84 | ochoa | Mitogen-activated protein kinase kinase kinase 4 (EC 2.7.11.25) (MAP three kinase 1) (MAPK/ERK kinase kinase 4) (MEK kinase 4) (MEKK 4) | Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6. {ECO:0000269|PubMed:12052864, ECO:0000269|PubMed:9305639}. |
Q8WWI1 | LMO7 | S1182 | Sugiyama | LIM domain only protein 7 (LMO-7) (F-box only protein 20) (LOMP) | None |
P47756 | CAPZB | S207 | Sugiyama | F-actin-capping protein subunit beta (CapZ beta) | F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization. Forms, with CAPZB, the barbed end of the fast growing ends of actin filaments in the dynactin complex and stabilizes dynactin structure. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). {ECO:0000250|UniProtKB:A9XFX6, ECO:0000269|PubMed:21834987}. |
Q96HE7 | ERO1A | S173 | Sugiyama | ERO1-like protein alpha (ERO1-L) (ERO1-L-alpha) (EC 1.8.4.-) (Endoplasmic oxidoreductin-1-like protein) (Endoplasmic reticulum oxidoreductase alpha) (Oxidoreductin-1-L-alpha) | Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins (PubMed:29858230). Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin. {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:10970843, ECO:0000269|PubMed:11707400, ECO:0000269|PubMed:12403808, ECO:0000269|PubMed:18833192, ECO:0000269|PubMed:18971943, ECO:0000269|PubMed:23027870, ECO:0000269|PubMed:29858230}. |
P49585 | PCYT1A | T71 | Sugiyama | Choline-phosphate cytidylyltransferase A (EC 2.7.7.15) (CCT-alpha) (CTP:phosphocholine cytidylyltransferase A) (CCT A) (CT A) (Phosphorylcholine transferase A) | Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:10480912, ECO:0000269|PubMed:30559292, ECO:0000269|PubMed:7918629}. |
Q02641 | CACNB1 | S348 | SIGNOR | Voltage-dependent L-type calcium channel subunit beta-1 (CAB1) (Calcium channel voltage-dependent subunit beta 1) | Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:15615847, PubMed:8107964). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964). {ECO:0000250|UniProtKB:P19517, ECO:0000269|PubMed:1309651, ECO:0000269|PubMed:15615847, ECO:0000269|PubMed:8107964}. |
Q15759 | MAPK11 | S243 | Sugiyama | Mitogen-activated protein kinase 11 (MAP kinase 11) (MAPK 11) (EC 2.7.11.24) (Mitogen-activated protein kinase p38 beta) (MAP kinase p38 beta) (p38b) (Stress-activated protein kinase 2b) (SAPK2b) (p38-2) | Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:12452429, PubMed:20626350, PubMed:35857590). MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors (PubMed:12452429, PubMed:20626350, PubMed:35857590). Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each (PubMed:12452429, PubMed:20626350, PubMed:35857590). MAPK11 functions are mostly redundant with those of MAPK14 (PubMed:12452429, PubMed:20626350, PubMed:35857590). Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets (PubMed:12452429, PubMed:20626350). RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1 (PubMed:9687510). RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2 (PubMed:11154262). In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Additional examples of p38 MAPK substrates are the FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A (PubMed:10330143, PubMed:15356147, PubMed:9430721). The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers (PubMed:10330143, PubMed:15356147, PubMed:9430721). The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates NLRP1 downstream of MAP3K20/ZAK in response to UV-B irradiation and ribosome collisions, promoting activation of the NLRP1 inflammasome and pyroptosis (PubMed:35857590). Phosphorylates methyltransferase DOT1L on 'Ser-834', 'Thr-900', 'Ser-902', 'Thr-984', 'Ser-1001', 'Ser-1009' and 'Ser-1104' (PubMed:38270553). {ECO:0000269|PubMed:10330143, ECO:0000269|PubMed:11154262, ECO:0000269|PubMed:15356147, ECO:0000269|PubMed:35857590, ECO:0000269|PubMed:38270553, ECO:0000269|PubMed:9430721, ECO:0000269|PubMed:9687510, ECO:0000303|PubMed:12452429, ECO:0000303|PubMed:20626350}. |
C4P0D8 | TSNAX-DISC1 | S33 | ochoa | Disrupted in schizophrenia 1 isoform 51 (TSNAX-DISC1 readthrough (NMD candidate)) | None |
K7ERQ8 | None | S124 | ochoa | PCAF N-terminal domain-containing protein | None |
O00170 | AIP | S159 | ochoa | AH receptor-interacting protein (AIP) (Aryl-hydrocarbon receptor-interacting protein) (HBV X-associated protein 2) (XAP-2) (Immunophilin homolog ARA9) | May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.; FUNCTION: Cellular negative regulator of the hepatitis B virus (HBV) X protein. |
O14818 | PSMA7 | S30 | ochoa | Proteasome subunit alpha type-7 (Proteasome subunit RC6-1) (Proteasome subunit XAPC7) (Proteasome subunit alpha-4) (alpha-4) | Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Inhibits the transactivation function of HIF-1A under both normoxic and hypoxia-mimicking conditions. The interaction with EMAP2 increases the proteasome-mediated HIF-1A degradation under the hypoxic conditions. Plays a role in hepatitis C virus internal ribosome entry site-mediated translation. Mediates nuclear translocation of the androgen receptor (AR) and thereby enhances androgen-mediated transactivation. Promotes MAVS degradation and thereby negatively regulates MAVS-mediated innate immune response. {ECO:0000269|PubMed:11389899, ECO:0000269|PubMed:11713272, ECO:0000269|PubMed:12119296, ECO:0000269|PubMed:15244466, ECO:0000269|PubMed:19442227, ECO:0000269|PubMed:19734229, ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}. |
O14879 | IFIT3 | S237 | ochoa | Interferon-induced protein with tetratricopeptide repeats 3 (IFIT-3) (CIG49) (ISG-60) (Interferon-induced 60 kDa protein) (IFI-60K) (Interferon-induced protein with tetratricopeptide repeats 4) (IFIT-4) (Retinoic acid-induced gene G protein) (P60) (RIG-G) | IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exhibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B/p27. Normally, CDKN1B/p27 turnover is regulated by COPS5, which binds CDKN1B/p27 in the nucleus and exports it to the cytoplasm for ubiquitin-dependent degradation. IFIT3 sequesters COPS5 in the cytoplasm, thereby increasing nuclear CDKN1B/p27 protein levels. Up-regulates CDKN1A/p21 by down-regulating MYC, a repressor of CDKN1A/p21. Can negatively regulate the apoptotic effects of IFIT2. {ECO:0000269|PubMed:17050680, ECO:0000269|PubMed:20686046, ECO:0000269|PubMed:21190939, ECO:0000269|PubMed:21642987, ECO:0000269|PubMed:21813773}. |
O15061 | SYNM | S1435 | 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}. |
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}. |
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}. |
O43237 | DYNC1LI2 | S194 | ochoa | Cytoplasmic dynein 1 light intermediate chain 2 (Dynein light intermediate chain 2, cytosolic) (LIC-2) (LIC53/55) | Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. {ECO:0000305|PubMed:36071160}. |
O43402 | EMC8 | S103 | ochoa | ER membrane protein complex subunit 8 (Neighbor of COX4) (Protein FAM158B) | Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable). {ECO:0000269|PubMed:29242231, ECO:0000269|PubMed:29809151, ECO:0000269|PubMed:30415835, ECO:0000269|PubMed:32439656, ECO:0000269|PubMed:32459176, ECO:0000305}. |
O60285 | NUAK1 | S455 | 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 | S574 | 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}. |
O60716 | CTNND1 | S47 | ochoa | Catenin delta-1 (Cadherin-associated Src substrate) (CAS) (p120 catenin) (p120(ctn)) (p120(cas)) | Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3 (PubMed:18343367). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476). {ECO:0000269|PubMed:10207085, ECO:0000269|PubMed:14610055, ECO:0000269|PubMed:17344476, ECO:0000269|PubMed:18343367, ECO:0000269|PubMed:20371349}. |
O75128 | COBL | S455 | ochoa | Protein cordon-bleu | Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. {ECO:0000250, ECO:0000269|PubMed:21816349}. |
O75362 | ZNF217 | S253 | ochoa | Zinc finger protein 217 | Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. {ECO:0000269|PubMed:16203743, ECO:0000269|PubMed:16940172, ECO:0000269|PubMed:17259635, ECO:0000269|PubMed:18625718}. |
O75369 | FLNB | S2325 | ochoa | Filamin-B (FLN-B) (ABP-278) (ABP-280 homolog) (Actin-binding-like protein) (Beta-filamin) (Filamin homolog 1) (Fh1) (Filamin-3) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP) | Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro. |
O75417 | POLQ | S1776 | ochoa | DNA polymerase theta (DNA polymerase eta) [Includes: Helicase POLQ (EC 3.6.4.12); DNA polymerase POLQ (EC 2.7.7.7) (RNA-directed DNA polymerase POLQ) (EC 2.7.7.49)] | Low-fidelity DNA polymerase with a helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis (PubMed:14576298, PubMed:18503084, PubMed:24648516, PubMed:25642963, PubMed:25643323, PubMed:25775267, PubMed:26636256, PubMed:27311885, PubMed:27591252, PubMed:30655289, PubMed:31562312, PubMed:32873648, PubMed:34140467, PubMed:34179826, PubMed:36455556, PubMed:37440612, PubMed:37674080). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323, PubMed:25775267, PubMed:27311885, PubMed:27591252, PubMed:31562312, PubMed:32873648). MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase (PubMed:37440612, PubMed:37674080). Although error-prone, MMEJ protects against chromosomal instability and tumorigenesis (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs (PubMed:25643323, PubMed:25775267, PubMed:27311885, PubMed:27591252). It then extends each strand from the base-paired region using the opposing overhang as a template (PubMed:25643323, PubMed:25775267, PubMed:27311885, PubMed:27591252). Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323, PubMed:25775267, PubMed:27311885, PubMed:27591252). The polymerase lacks proofreading activity and is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). When the ends of a break do not contain terminal microhomology must identify embedded complementary sequences through a scanning step (PubMed:32234782). Also acts as a DNA helicase, promoting dissociation of the replication protein A complex (RPA/RP-A), composed of RPA1, RPA2 and RPA3, from resected double-strand breaks to allow their annealing and subsequent joining by MMEJ (PubMed:36455556). Removal of RPA/RP-A complex proteins prevents RAD51 accumulation at resected ends, thereby inhibiting homology-recombination repair (HR) pathway (PubMed:25642963, PubMed:28695890). Also shows RNA-directed DNA polymerase activity to mediate DNA repair in vitro; however this activity needs additional evidence in vivo (PubMed:34117057). May also have lyase activity (PubMed:19188258). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity). POLQ-mediated end joining activity is involved in random integration of exogenous DNA hampers (PubMed:28695890). {ECO:0000250|UniProtKB:Q8CGS6, ECO:0000269|PubMed:14576298, ECO:0000269|PubMed:18503084, ECO:0000269|PubMed:19188258, ECO:0000269|PubMed:21050863, ECO:0000269|PubMed:22135286, ECO:0000269|PubMed:24648516, ECO:0000269|PubMed:25642963, ECO:0000269|PubMed:25643323, ECO:0000269|PubMed:25775267, ECO:0000269|PubMed:26636256, ECO:0000269|PubMed:27311885, ECO:0000269|PubMed:27591252, ECO:0000269|PubMed:28695890, ECO:0000269|PubMed:30655289, ECO:0000269|PubMed:31562312, ECO:0000269|PubMed:32234782, ECO:0000269|PubMed:32873648, ECO:0000269|PubMed:34117057, ECO:0000269|PubMed:34140467, ECO:0000269|PubMed:34179826, ECO:0000269|PubMed:36455556, ECO:0000269|PubMed:37440612, ECO:0000269|PubMed:37674080}. |
O76021 | RSL1D1 | S443 | ochoa | Ribosomal L1 domain-containing protein 1 (CATX-11) (Cellular senescence-inhibited gene protein) (Protein PBK1) | Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage. {ECO:0000269|PubMed:18678645, ECO:0000269|PubMed:22419112}. |
O94953 | KDM4B | S352 | ochoa|psp | Lysine-specific demethylase 4B (EC 1.14.11.66) (JmjC domain-containing histone demethylation protein 3B) (Jumonji domain-containing protein 2B) ([histone H3]-trimethyl-L-lysine(9) demethylase 4B) | Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate (PubMed:16603238, PubMed:28262558). Plays a critical role in the development of the central nervous system (CNS). {ECO:0000250|UniProtKB:Q91VY5, ECO:0000269|PubMed:16603238, ECO:0000269|PubMed:28262558}. |
O94986 | CEP152 | S133 | ochoa | Centrosomal protein of 152 kDa (Cep152) | Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CPAP, 2 molecules involved in centriole formation (PubMed:20852615, PubMed:21059844). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615). {ECO:0000250|UniProtKB:A2AUM9, ECO:0000250|UniProtKB:Q498G2, ECO:0000269|PubMed:20852615, ECO:0000269|PubMed:21059844, ECO:0000269|PubMed:21131973}. |
O95155 | UBE4B | S803 | ochoa | Ubiquitin conjugation factor E4 B (EC 2.3.2.27) (Homozygously deleted in neuroblastoma 1) (RING-type E3 ubiquitin transferase E4 B) (Ubiquitin fusion degradation protein 2) | Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). {ECO:0000250|UniProtKB:P54860, ECO:0000250|UniProtKB:Q9ES00, ECO:0000269|PubMed:17369820}. |
O95196 | CSPG5 | S543 | ochoa | Chondroitin sulfate proteoglycan 5 (Acidic leucine-rich EGF-like domain-containing brain protein) (Neuroglycan C) | May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation. {ECO:0000269|PubMed:15358134}. |
O95402 | MED26 | S447 | ochoa | Mediator of RNA polymerase II transcription subunit 26 (Activator-recruited cofactor 70 kDa component) (ARC70) (Cofactor required for Sp1 transcriptional activation subunit 7) (CRSP complex subunit 7) (Mediator complex subunit 26) (Transcriptional coactivator CRSP70) | 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 pre-initiation complex with RNA polymerase II and the general transcription factors. |
O95613 | PCNT | S2214 | 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}. |
O95782 | AP2A1 | S792 | ochoa | AP-2 complex subunit alpha-1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP-2 subunit alpha-1) (Adaptor-related protein complex 2 subunit alpha-1) (Alpha-adaptin A) (Alpha1-adaptin) (Clathrin assembly protein complex 2 alpha-A large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit) | Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387, ECO:0000269|PubMed:23676497}. |
O95793 | STAU1 | S278 | ochoa | Double-stranded RNA-binding protein Staufen homolog 1 | Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site.; FUNCTION: (Microbial infection) Plays a role in virus particles production of many viruses including of HIV-1, HERV-K, ebola virus and influenza virus. Acts by interacting with various viral proteins involved in particle budding process. {ECO:0000269|PubMed:10325410, ECO:0000269|PubMed:18498651, ECO:0000269|PubMed:23926355, ECO:0000269|PubMed:30301857}. |
O96019 | ACTL6A | S86 | ochoa|psp | Actin-like protein 6A (53 kDa BRG1-associated factor A) (Actin-related protein Baf53a) (ArpNbeta) (BRG1-associated factor 53A) (BAF53A) (INO80 complex subunit K) | 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. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. 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). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:29374058, ECO:0000303|PubMed:15196461, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}. |
P10071 | GLI3 | S45 | ochoa | Transcriptional activator GLI3 (GLI3 form of 190 kDa) (GLI3-190) (GLI3 full-length protein) (GLI3FL) [Cleaved into: Transcriptional repressor GLI3R (GLI3 C-terminally truncated form) (GLI3 form of 83 kDa) (GLI3-83)] | Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759, ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:17764085}. |
P10243 | MYBL1 | S434 | ochoa | Myb-related protein A (A-Myb) (Myb-like protein 1) | Transcription factor that specifically recognizes the sequence 5'-YAAC[GT]G-3' (PubMed:7987850, PubMed:8058310). Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By similarity). Transcriptional activator of SOX30 (By similarity). {ECO:0000250|UniProtKB:P51960, ECO:0000269|PubMed:7987850, ECO:0000269|PubMed:8058310}. |
P10809 | HSPD1 | S70 | ochoa|psp | 60 kDa heat shock protein, mitochondrial (EC 5.6.1.7) (60 kDa chaperonin) (Chaperonin 60) (CPN60) (Heat shock protein 60) (HSP-60) (Hsp60) (Heat shock protein family D member 1) (HuCHA60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) | Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:11422376, PubMed:1346131). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable). {ECO:0000269|PubMed:11422376, ECO:0000269|PubMed:1346131, ECO:0000305|PubMed:25918392}. |
P11137 | MAP2 | S788 | 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. |
P13631 | RARG | S176 | ochoa | Retinoic acid receptor gamma (RAR-gamma) (Nuclear receptor subfamily 1 group B member 3) | Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). {ECO:0000250}. |
P15822 | HIVEP1 | S1158 | 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. |
P15822 | HIVEP1 | S1213 | 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. |
P15822 | HIVEP1 | S1409 | 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. |
P16333 | NCK1 | S91 | ochoa | SH2/SH3 adapter protein NCK1 (Cytoplasmic protein NCK1) (NCK adapter protein 1) (Nck-1) (SH2/SH3 adapter protein NCK-alpha) | Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in cell adhesion and migration through interaction with ephrin receptors. {ECO:0000269|PubMed:10026169, ECO:0000269|PubMed:16835242, ECO:0000269|PubMed:17803907, ECO:0000269|PubMed:18835251, ECO:0000269|PubMed:23358419, ECO:0000269|PubMed:9430661}. |
P19525 | EIF2AK2 | S83 | ochoa|psp | Interferon-induced, double-stranded RNA-activated protein kinase (EC 2.7.11.1) (Eukaryotic translation initiation factor 2-alpha kinase 2) (eIF-2A protein kinase 2) (Interferon-inducible RNA-dependent protein kinase) (P1/eIF-2A protein kinase) (Protein kinase RNA-activated) (PKR) (Protein kinase R) (Tyrosine-protein kinase EIF2AK2) (EC 2.7.10.2) (p68 kinase) | IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection (PubMed:18835251, PubMed:19189853, PubMed:19507191, PubMed:21072047, PubMed:21123651, PubMed:22381929, PubMed:22948139, PubMed:23229543). Inhibits viral replication via the integrated stress response (ISR): EIF2S1/eIF-2-alpha phosphorylation in response to viral infection converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, resulting to a shutdown of cellular and viral protein synthesis, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4 (PubMed:19189853, PubMed:21123651, PubMed:22948139, PubMed:23229543). Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1) (PubMed:11836380, PubMed:19189853, PubMed:19840259, PubMed:20171114, PubMed:21710204, PubMed:23115276, PubMed:23399035). Also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation: phosphorylates other substrates including p53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral protein US11 (PubMed:11836380, PubMed:19229320, PubMed:22214662). In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity and phosphorylates CDK1 at 'Tyr-4' upon DNA damage, facilitating its ubiquitination and proteasomal degradation (PubMed:20395957). Either as an adapter protein and/or via its kinase activity, can regulate various signaling pathways (p38 MAP kinase, NF-kappa-B and insulin signaling pathways) and transcription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved in the expression of genes encoding pro-inflammatory cytokines and IFNs (PubMed:22948139, PubMed:23084476, PubMed:23372823). Activates the NF-kappa-B pathway via interaction with IKBKB and TRAF family of proteins and activates the p38 MAP kinase pathway via interaction with MAP2K6 (PubMed:10848580, PubMed:15121867, PubMed:15229216). Can act as both a positive and negative regulator of the insulin signaling pathway (ISP) (PubMed:20685959). Negatively regulates ISP by inducing the inhibitory phosphorylation of insulin receptor substrate 1 (IRS1) at 'Ser-312' and positively regulates ISP via phosphorylation of PPP2R5A which activates FOXO1, which in turn up-regulates the expression of insulin receptor substrate 2 (IRS2) (PubMed:20685959). Can regulate NLRP3 inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 and NLRC4 inflammasomes (PubMed:22801494). Plays a role in the regulation of the cytoskeleton by binding to gelsolin (GSN), sequestering the protein in an inactive conformation away from actin (By similarity). {ECO:0000250|UniProtKB:Q03963, ECO:0000269|PubMed:10848580, ECO:0000269|PubMed:11836380, ECO:0000269|PubMed:15121867, ECO:0000269|PubMed:15229216, ECO:0000269|PubMed:18835251, ECO:0000269|PubMed:19189853, ECO:0000269|PubMed:19229320, ECO:0000269|PubMed:19507191, ECO:0000269|PubMed:19840259, ECO:0000269|PubMed:20171114, ECO:0000269|PubMed:20395957, ECO:0000269|PubMed:20685959, ECO:0000269|PubMed:21072047, ECO:0000269|PubMed:21123651, ECO:0000269|PubMed:21710204, ECO:0000269|PubMed:22214662, ECO:0000269|PubMed:22381929, ECO:0000269|PubMed:22801494, ECO:0000269|PubMed:22948139, ECO:0000269|PubMed:23084476, ECO:0000269|PubMed:23115276, ECO:0000269|PubMed:23229543, ECO:0000269|PubMed:23372823, ECO:0000269|PubMed:23399035, ECO:0000269|PubMed:32197074}. |
P20339 | RAB5A | S123 | ochoa|psp | Ras-related protein Rab-5A (EC 3.6.5.2) | The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:15378032, PubMed:16410077). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity). {ECO:0000250|UniProtKB:Q9CQD1, ECO:0000269|PubMed:10818110, ECO:0000269|PubMed:14617813, ECO:0000269|PubMed:14978216, ECO:0000269|PubMed:15378032, ECO:0000269|PubMed:16410077, ECO:0000269|PubMed:22660413}. |
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 | S624 | ochoa | Microtubule-associated protein 4 (MAP-4) | Non-neuronal microtubule-associated protein. Promotes microtubule assembly. {ECO:0000269|PubMed:10791892, ECO:0000269|PubMed:34782749}. |
P30414 | NKTR | S1146 | ochoa | NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase) | PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:8421688}. |
P35222 | CTNNB1 | S246 | psp | Catenin beta-1 (Beta-catenin) | Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Also acts as a coactivator for other transcription factors, such as NR5A2 (PubMed:22187462). Promotes epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via driving transcription of CTNNB1/TCF-target genes (PubMed:29910125). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, via promoting the transcription of differentiation factors such as LEF1, BMP2 and BMP4 (By similarity). Activity is repressed in a MSX1-mediated manner at the bell stage of mesenchymal tooth germ formation which prevents premature differentiation of odontoblasts (By similarity). {ECO:0000250|UniProtKB:Q02248, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423, ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22187462, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938, ECO:0000269|PubMed:29910125}. |
P35222 | CTNNB1 | S605 | psp | Catenin beta-1 (Beta-catenin) | Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Also acts as a coactivator for other transcription factors, such as NR5A2 (PubMed:22187462). Promotes epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via driving transcription of CTNNB1/TCF-target genes (PubMed:29910125). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, via promoting the transcription of differentiation factors such as LEF1, BMP2 and BMP4 (By similarity). Activity is repressed in a MSX1-mediated manner at the bell stage of mesenchymal tooth germ formation which prevents premature differentiation of odontoblasts (By similarity). {ECO:0000250|UniProtKB:Q02248, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423, ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22187462, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938, ECO:0000269|PubMed:29910125}. |
P35270 | SPR | S145 | ochoa | Sepiapterin reductase (SPR) (EC 1.1.1.153) | Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. |
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}. |
P42575 | CASP2 | S340 | ochoa|psp | Caspase-2 (CASP-2) (EC 3.4.22.55) (Neural precursor cell expressed developmentally down-regulated protein 2) (NEDD-2) (Protease ICH-1) [Cleaved into: Caspase-2 subunit p18; Caspase-2 subunit p13; Caspase-2 subunit p12] | Is a regulator of the cascade of caspases responsible for apoptosis execution (PubMed:11156409, PubMed:15073321, PubMed:8087842). Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321). {ECO:0000269|PubMed:11156409, ECO:0000269|PubMed:15073321, ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 1]: Acts as a positive regulator of apoptosis. {ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 2]: Acts as a negative regulator of apoptosis. {ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 3]: May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death. {ECO:0000269|PubMed:11156409}. |
P42685 | FRK | S37 | ochoa | Tyrosine-protein kinase FRK (EC 2.7.10.2) (FYN-related kinase) (Nuclear tyrosine protein kinase RAK) (Protein-tyrosine kinase 5) | Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor. {ECO:0000269|PubMed:19345329}. |
P42702 | LIFR | S927 | ochoa | Leukemia inhibitory factor receptor (LIF receptor) (LIF-R) (CD antigen CD118) | Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells. |
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}. |
P46013 | MKI67 | S235 | 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}. |
P49758 | RGS6 | S244 | ochoa | Regulator of G-protein signaling 6 (RGS6) (S914) | Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). {ECO:0000269|PubMed:10521509}. |
P49959 | MRE11 | S165 | ochoa | Double-strand break repair protein MRE11 (EC 3.1.-.-) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A) | Core 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:11741547, PubMed:14657032, PubMed:22078559, PubMed:23080121, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:28867292, PubMed:29670289, PubMed:30464262, PubMed:30612738, PubMed:31353207, PubMed:37696958, PubMed:38128537, PubMed:9590181, PubMed:9651580, 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:24316220, PubMed:28867292, PubMed:31353207, PubMed:38128537). 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:24316220, PubMed:27889449, PubMed:28867292, PubMed:36050397, PubMed:38128537). Within the MRN complex, MRE11 possesses both single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity (PubMed:11741547, PubMed:22078559, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:29670289, PubMed:31353207, PubMed:36563124, PubMed:9590181, PubMed:9651580, PubMed:9705271). After DSBs, MRE11 is loaded onto DSBs sites and cleaves DNA by cooperating with RBBP8/CtIP to initiate end resection (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 first endonucleolytically cleaves the 5' strand at DNA DSB ends to prevent non-homologous end joining (NHEJ) and licence HR (PubMed:24316220). It then generates a single-stranded DNA gap via 3' to 5' exonucleolytic degradation to create entry sites for EXO1- and DNA2-mediated 5' to 3' long-range resection, which is required for single-strand invasion and recombination (PubMed:24316220, PubMed:28867292). RBBP8/CtIP specifically promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 endonuclease activity is also enhanced by AGER/RAGE (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR (PubMed:14657032, PubMed:15064416, PubMed:15790808, PubMed:16622404). The MRN complex is also required for the processing of R-loops (PubMed:31537797). The MRN complex is involved in the activation of the cGAS-STING pathway induced by DNA damage during tumorigenesis: the MRN complex acts by displacing CGAS from nucleosome sequestration, thereby activating it (By similarity). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888). {ECO:0000250|UniProtKB:Q61216, ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:11741547, ECO:0000269|PubMed:14657032, ECO:0000269|PubMed:15064416, ECO:0000269|PubMed:15790808, ECO:0000269|PubMed:16622404, ECO:0000269|PubMed:22078559, ECO:0000269|PubMed:23080121, ECO:0000269|PubMed:24316220, ECO:0000269|PubMed:26240375, ECO:0000269|PubMed:27814491, ECO:0000269|PubMed:27889449, ECO:0000269|PubMed:28867292, ECO:0000269|PubMed:29670289, ECO:0000269|PubMed:30464262, ECO:0000269|PubMed:30612738, ECO:0000269|PubMed:30787182, ECO:0000269|PubMed:31353207, ECO:0000269|PubMed:31537797, ECO:0000269|PubMed:36050397, ECO:0000269|PubMed:36563124, ECO:0000269|PubMed:37696958, ECO:0000269|PubMed:38128537, ECO:0000269|PubMed:9590181, ECO:0000269|PubMed:9651580, ECO:0000269|PubMed:9705271}.; FUNCTION: MRE11 contains two DNA-binding domains (DBDs), enabling it to bind both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). {ECO:0000305}. |
P50851 | LRBA | S1261 | ochoa | Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein) | Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106). {ECO:0000250|UniProtKB:Q9ESE1, ECO:0000269|PubMed:33773106}. |
P51148 | RAB5C | S124 | ochoa | Ras-related protein Rab-5C (EC 3.6.5.2) (L1880) (RAB5L) | The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. {ECO:0000250|UniProtKB:P20339}. |
P51398 | DAP3 | S220 | psp | Small ribosomal subunit protein mS29 (EC 3.6.5.-) (28S ribosomal protein S29, mitochondrial) (MRP-S29) (S29mt) (Death-associated protein 3) (DAP-3) (Ionizing radiation resistance conferring protein) | As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vitro (PubMed:39701103). {ECO:0000269|PubMed:39701103, ECO:0000269|PubMed:7499268}. |
P52701 | MSH6 | S292 | ochoa | DNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch-binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS-alpha 160 kDa subunit) (p160) | Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction. {ECO:0000269|PubMed:10078208, ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679, ECO:0000269|PubMed:9822680}. |
P52948 | NUP98 | S839 | ochoa | Nuclear pore complex protein Nup98-Nup96 (EC 3.4.21.-) [Cleaved into: Nuclear pore complex protein Nup98 (98 kDa nucleoporin) (Nucleoporin Nup98) (Nup98); Nuclear pore complex protein Nup96 (96 kDa nucleoporin) (Nucleoporin Nup96) (Nup96)] | Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC (PubMed:33097660). May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134). {ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:33097660}.; FUNCTION: (Microbial infection) Interacts with HIV-1 capsid protein P24 and nucleocapsid protein P7 and may thereby promote the integration of the virus in the host nucleus (in vitro) (PubMed:23523133). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change Asn-74-Asp is reduced (in vitro) (PubMed:23523133). {ECO:0000269|PubMed:23523133}. |
P54132 | BLM | S714 | psp | RecQ-like DNA helicase BLM (EC 5.6.2.4) (Bloom syndrome protein) (DNA 3'-5' helicase BLM) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3) | ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction (PubMed:24816114, PubMed:25901030, PubMed:9388193, PubMed:9765292). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA (PubMed:20639533, PubMed:24257077, PubMed:25901030). Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides (PubMed:18426915, PubMed:9765292). Helicase activity is higher on G-quadruplex substrates than on duplex DNA substrates (PubMed:9765292). Telomeres, immunoglobulin heavy chain switch regions and rDNA are notably G-rich; formation of G-quadruplex DNA would block DNA replication and transcription (PubMed:18426915, PubMed:9765292). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity). {ECO:0000250|UniProtKB:O88700, ECO:0000269|PubMed:12019152, ECO:0000269|PubMed:18426915, ECO:0000269|PubMed:20639533, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:24257077, ECO:0000269|PubMed:24816114, ECO:0000269|PubMed:25901030, ECO:0000269|PubMed:34606619, ECO:0000269|PubMed:9388193, ECO:0000269|PubMed:9765292}.; FUNCTION: (Microbial infection) Eliminates nuclear HIV-1 cDNA, thereby suppressing immune sensing and proviral hyper-integration. {ECO:0000269|PubMed:32690953}. |
P61020 | RAB5B | S123 | ochoa|psp | Ras-related protein Rab-5B (EC 3.6.5.2) | The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. {ECO:0000250|UniProtKB:P20339}. |
P78559 | MAP1A | S2022 | 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. |
P98082 | DAB2 | S471 | ochoa | Disabled homolog 2 (Adaptor molecule disabled-2) (Differentially expressed in ovarian carcinoma 2) (DOC-2) (Differentially-expressed protein 2) | Adapter protein that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor. {ECO:0000269|PubMed:11387212, ECO:0000269|PubMed:12805222, ECO:0000269|PubMed:16267015, ECO:0000269|PubMed:16984970, ECO:0000269|PubMed:19306879, ECO:0000269|PubMed:21995445, ECO:0000269|PubMed:22323290, ECO:0000269|PubMed:22491013}. |
P98164 | LRP2 | S4569 | ochoa | Low-density lipoprotein receptor-related protein 2 (LRP-2) (Glycoprotein 330) (gp330) (Megalin) | Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity). {ECO:0000250|UniProtKB:A2ARV4, ECO:0000250|UniProtKB:C0HL13, ECO:0000250|UniProtKB:P98158, ECO:0000269|PubMed:15126248, ECO:0000269|PubMed:23825075}. |
P98174 | FGD1 | S715 | ochoa | FYVE, RhoGEF and PH domain-containing protein 1 (Faciogenital dysplasia 1 protein) (Rho/Rac guanine nucleotide exchange factor FGD1) (Rho/Rac GEF) (Zinc finger FYVE domain-containing protein 3) | Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. {ECO:0000269|PubMed:8969170}. |
Q02880 | TOP2B | S1400 | ochoa | DNA topoisomerase 2-beta (EC 5.6.2.2) (DNA topoisomerase II, beta isozyme) | Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. {ECO:0000269|PubMed:10684600, ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574}. |
Q03001 | DST | S237 | ochoa | Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein) | Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). {ECO:0000250|UniProtKB:Q91ZU6}.; FUNCTION: [Isoform 3]: Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; FUNCTION: [Isoform 6]: Required for bundling actin filaments around the nucleus. {ECO:0000250, ECO:0000269|PubMed:10428034, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.; FUNCTION: [Isoform 7]: Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. |
Q03001 | DST | S1382 | ochoa | Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein) | Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). {ECO:0000250|UniProtKB:Q91ZU6}.; FUNCTION: [Isoform 3]: Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; FUNCTION: [Isoform 6]: Required for bundling actin filaments around the nucleus. {ECO:0000250, ECO:0000269|PubMed:10428034, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.; FUNCTION: [Isoform 7]: Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. |
Q03014 | HHEX | S163 | psp | Hematopoietically-expressed homeobox protein HHEX (Homeobox protein HEX) (Homeobox protein PRH) (Proline-rich homeodomain protein) | Recognizes the DNA sequence 5'-ATTAA-3' (By similarity). Transcriptional repressor (By similarity). Activator of WNT-mediated transcription in conjunction with CTNNB1 (PubMed:20028982). Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity). Inhibits EIF4E-mediated mRNA nuclear export (PubMed:12554669). May play a role in hematopoietic differentiation (PubMed:8096636). {ECO:0000250|UniProtKB:P43120, ECO:0000269|PubMed:12554669, ECO:0000269|PubMed:20028982, ECO:0000269|PubMed:8096636}. |
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}. |
Q07817 | BCL2L1 | S62 | psp | Bcl-2-like protein 1 (Bcl2-L-1) (Apoptosis regulator Bcl-X) | Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.; FUNCTION: Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). {ECO:0000269|PubMed:17418785}.; FUNCTION: Isoform Bcl-X(S) promotes apoptosis. |
Q07866 | KLC1 | S460 | ochoa|psp | Kinesin light chain 1 (KLC 1) | Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport (PubMed:21385839). The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). {ECO:0000250|UniProtKB:P37285, ECO:0000269|PubMed:21385839}. |
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}. |
Q12879 | GRIN2A | S882 | ochoa | Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A) | 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:20890276, PubMed:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:28242877, PubMed:36117210, PubMed:38538865, PubMed:8768735). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (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:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:27288002, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28182669, PubMed:29644724, PubMed:38307912, 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:26919761). Participates in the synaptic plasticity regulation through activation by the L-glutamate releaseed by BEST1, into the synaptic cleft, upon F2R/PAR-1 activation in astrocyte (By similarity). {ECO:0000250|UniProtKB:P35436, ECO:0000250|UniProtKB:P35438, ECO:0000269|PubMed:20890276, ECO:0000269|PubMed:23933818, ECO:0000269|PubMed:23933819, ECO:0000269|PubMed:23933820, ECO:0000269|PubMed:24504326, ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:27288002, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28105280, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:28182669, ECO:0000269|PubMed:28242877, ECO:0000269|PubMed:29644724, ECO:0000269|PubMed:36117210, ECO:0000269|PubMed:38307912, ECO:0000269|PubMed:38538865, ECO:0000269|PubMed:8768735}. |
Q12882 | DPYD | S905 | ochoa | Dihydropyrimidine dehydrogenase [NADP(+)] (DHPDHase) (DPD) (EC 1.3.1.2) (Dihydrothymine dehydrogenase) (Dihydrouracil dehydrogenase) | Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248). {ECO:0000269|PubMed:1512248}. |
Q12888 | TP53BP1 | S552 | 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}. |
Q13523 | PRP4K | S93 | ochoa | Serine/threonine-protein kinase PRP4 homolog (EC 2.7.11.1) (PRP4 kinase) (PRP4 pre-mRNA-processing factor 4 homolog) | Serine/threonine kinase involved in spliceosomal assembly as well as mitosis and signaling regulation (PubMed:10799319, PubMed:12077342, PubMed:17513757, PubMed:17998396). Connects chromatin mediated regulation of transcription and pre-mRNA splicing (PubMed:12077342). During spliceosomal assembly, interacts with and phosphorylates PRPF6 and PRPF31, components of the U4/U6-U5 tri-small nuclear ribonucleoprotein (snRNP), to facilitate the formation of the spliceosome B complex. Plays a role in regulating transcription and the spindle assembly checkpoint (SAC) (PubMed:20118938). Associates with U5 snRNP and NCOR1 deacetylase complexes which may allow a coordination of pre-mRNA splicing with chromatin remodeling events involved in transcriptional regulation (PubMed:12077342). Associates and probably phosphorylates SMARCA4 and NCOR1 (PubMed:12077342). Phosphorylates SRSF1 (PubMed:11418604). Associates with kinetochores during mitosis and is necessary for recruitment and maintenance of the checkpoint proteins such as MAD1L1 and MAD12L1 at the kinetochores (PubMed:17998396). Phosphorylates and regulates the activity of the transcription factors such as ELK1 and KLF13 (PubMed:10799319, PubMed:17513757). Phosphorylates nuclear YAP1 and WWTR1/TAZ which induces nuclear exclusion and regulates Hippo signaling pathway, involved in tissue growth control (PubMed:29695716). {ECO:0000269|PubMed:10799319, ECO:0000269|PubMed:11418604, ECO:0000269|PubMed:12077342, ECO:0000269|PubMed:17513757, ECO:0000269|PubMed:17998396, ECO:0000269|PubMed:20118938, ECO:0000269|PubMed:29695716}. |
Q13873 | BMPR2 | S515 | ochoa | Bone morphogenetic protein receptor type-2 (BMP type-2 receptor) (BMPR-2) (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPR-II) | On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Can also mediate signaling through the activation of the p38MAPK cascade (PubMed:12045205). Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. Promotes signaling also by binding to activin A/INHBA (PubMed:24018044). {ECO:0000250|UniProtKB:O35607, ECO:0000269|PubMed:12045205, ECO:0000269|PubMed:24018044}. |
Q14139 | UBE4A | S1034 | ochoa | Ubiquitin conjugation factor E4 A (EC 2.3.2.27) (RING-type E3 ubiquitin transferase E4 A) | Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates. {ECO:0000250|UniProtKB:E9Q735, ECO:0000250|UniProtKB:P54860}. |
Q15746 | MYLK | S947 | ochoa|psp | Myosin light chain kinase, smooth muscle (MLCK) (smMLCK) (EC 2.7.11.18) (Kinase-related protein) (KRP) (Telokin) [Cleaved into: Myosin light chain kinase, smooth muscle, deglutamylated form] | Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis. {ECO:0000269|PubMed:11113114, ECO:0000269|PubMed:11976941, ECO:0000269|PubMed:15020676, ECO:0000269|PubMed:15825080, ECO:0000269|PubMed:16284075, ECO:0000269|PubMed:16723733, ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18710790, ECO:0000269|PubMed:19826488, ECO:0000269|PubMed:20139351, ECO:0000269|PubMed:20181817, ECO:0000269|PubMed:20375339, ECO:0000269|PubMed:20453870}. |
Q15772 | SPEG | S485 | ochoa | Striated muscle preferentially expressed protein kinase (EC 2.7.11.1) (Aortic preferentially expressed protein 1) (APEG-1) | Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells. |
Q15772 | SPEG | S2448 | ochoa | Striated muscle preferentially expressed protein kinase (EC 2.7.11.1) (Aortic preferentially expressed protein 1) (APEG-1) | Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells. |
Q15916 | ZBTB6 | S202 | ochoa | Zinc finger and BTB domain-containing protein 6 (Zinc finger protein 482) (Zinc finger protein with interaction domain) | May be involved in transcriptional regulation. |
Q16600 | ZNF239 | S28 | ochoa | Zinc finger protein 239 (Zinc finger protein HOK-2) (Zinc finger protein MOK-2) | May be involved in transcriptional regulation. |
Q3KR37 | GRAMD1B | S274 | 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}. |
Q3L8U1 | CHD9 | S1754 | ochoa | Chromodomain-helicase-DNA-binding protein 9 (CHD-9) (EC 3.6.4.-) (ATP-dependent helicase CHD9) (Chromatin-related mesenchymal modulator) (CReMM) (Chromatin-remodeling factor CHROM1) (Kismet homolog 2) (PPAR-alpha-interacting complex protein 320 kDa) (Peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein) | Probable ATP-dependent chromatin-remodeling factor. Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity). {ECO:0000250, ECO:0000269|PubMed:16095617, ECO:0000269|PubMed:16554032}. |
Q3T8J9 | GON4L | S775 | 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}. |
Q504Q3 | PAN2 | S791 | ochoa | PAN2-PAN3 deadenylation complex catalytic subunit PAN2 (EC 3.1.13.4) (Inactive ubiquitin carboxyl-terminal hydrolase 52) (PAB1P-dependent poly(A)-specific ribonuclease) (Poly(A)-nuclease deadenylation complex subunit 2) (PAN deadenylation complex subunit 2) | Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenylation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation. {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:14583602, ECO:0000269|PubMed:16284618, ECO:0000269|PubMed:23398456}. |
Q5FWF5 | ESCO1 | S523 | ochoa | N-acetyltransferase ESCO1 (EC 2.3.1.-) (CTF7 homolog 1) (Establishment factor-like protein 1) (EFO1) (EFO1p) (hEFO1) (Establishment of cohesion 1 homolog 1) (ECO1 homolog 1) (ESO1 homolog 1) | Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053). {ECO:0000269|PubMed:14576321, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:18614053, ECO:0000269|PubMed:19907496, ECO:0000269|PubMed:27112597, ECO:0000269|PubMed:27803161}. |
Q5JTH9 | RRP12 | S801 | ochoa | RRP12-like protein | None |
Q5SW79 | CEP170 | S313 | ochoa | Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein) | Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092). {ECO:0000269|PubMed:15616186, ECO:0000269|PubMed:28422092}. |
Q5SW79 | CEP170 | S1079 | ochoa | Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein) | Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092). {ECO:0000269|PubMed:15616186, ECO:0000269|PubMed:28422092}. |
Q5T5Y3 | CAMSAP1 | S217 | ochoa | Calmodulin-regulated spectrin-associated protein 1 | Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850). {ECO:0000269|PubMed:19508979, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:24117850, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919}. |
Q5T7B8 | KIF24 | S524 | ochoa | Kinesin-like protein KIF24 | Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation (PubMed:21620453). Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle (PubMed:26290419). Plays an important role in recruiting MPHOSPH9, a negative regulator of cilia formation to the distal end of mother centriole (PubMed:30375385). {ECO:0000269|PubMed:21620453, ECO:0000269|PubMed:26290419, ECO:0000269|PubMed:30375385}. |
Q5T8P6 | RBM26 | S616 | ochoa | RNA-binding protein 26 (CTCL tumor antigen se70-2) (RNA-binding motif protein 26) | May be involved in the turnover of nuclear polyadenylated (pA+) RNA. {ECO:0000269|PubMed:31950173}. |
Q5VTT5 | MYOM3 | S553 | ochoa | Myomesin-3 (Myomesin family member 3) | May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle. {ECO:0000250}. |
Q5VWN6 | TASOR2 | S1025 | ochoa | Protein TASOR 2 | None |
Q5VWN6 | TASOR2 | S1087 | ochoa | Protein TASOR 2 | None |
Q676U5 | ATG16L1 | S255 | ochoa | Autophagy-related protein 16-1 (APG16-like 1) | Plays an essential role in both canonical and non-canonical autophagy: interacts with ATG12-ATG5 to mediate the lipidation to ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAPL1, GABARAPL2 and GABARAP) (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576, PubMed:29317426, PubMed:30778222, PubMed:33909989). Acts as a molecular hub, coordinating autophagy pathways via distinct domains that support either canonical or non-canonical signaling (PubMed:29317426, PubMed:30778222). During canonical autophagy, interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to ATG8 proteins, to produce a membrane-bound activated form of ATG8 (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576). Thereby, controls the elongation of the nascent autophagosomal membrane (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576). As part of the ATG8 conjugation system with ATG5 and ATG12, required for recruitment of LRRK2 to stressed lysosomes and induction of LRRK2 kinase activity in response to lysosomal stress (By similarity). Also involved in non-canonical autophagy, a parallel pathway involving conjugation of ATG8 proteins to single membranes at endolysosomal compartments, probably by catalyzing conjugation of phosphatidylserine (PS) to ATG8 (PubMed:33909989). Non-canonical autophagy plays a key role in epithelial cells to limit lethal infection by influenza A (IAV) virus (By similarity). Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production (PubMed:22749352, PubMed:25645662). Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response (PubMed:24238340). Instead, promotes an autophagy-dependent antibacterial pathway together with NOD1 or NOD2 (PubMed:20637199). Plays a role in regulating morphology and function of Paneth cell (PubMed:18849966). {ECO:0000250|UniProtKB:Q8C0J2, ECO:0000269|PubMed:18849966, ECO:0000269|PubMed:20637199, ECO:0000269|PubMed:22749352, ECO:0000269|PubMed:23376921, ECO:0000269|PubMed:23392225, ECO:0000269|PubMed:24238340, ECO:0000269|PubMed:24553140, ECO:0000269|PubMed:24954904, ECO:0000269|PubMed:25645662, ECO:0000269|PubMed:27273576, ECO:0000269|PubMed:29317426, ECO:0000269|PubMed:30778222, ECO:0000269|PubMed:33909989}. |
Q6AWC2 | WWC2 | S269 | ochoa | Protein WWC2 (BH-3-only member B) (WW domain-containing protein 2) | Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway. {ECO:0000269|PubMed:24682284}. |
Q6GYQ0 | RALGAPA1 | S1478 | ochoa | Ral GTPase-activating protein subunit alpha-1 (GAP-related-interacting partner to E12) (GRIPE) (GTPase-activating Rap/Ran-GAP domain-like 1) (Tuberin-like protein 1) (p240) | Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. {ECO:0000250}. |
Q6IBW4 | NCAPH2 | S284 | ochoa|psp | Condensin-2 complex subunit H2 (Chromosome-associated protein H2) (hCAP-H2) (Kleisin-beta) (Non-SMC condensin II complex subunit H2) | Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007). {ECO:0000250|UniProtKB:Q8BSP2, ECO:0000269|PubMed:14532007}. |
Q6IQ19 | CCSAP | S145 | ochoa | Centriole, cilia and spindle-associated protein | Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity). {ECO:0000250|UniProtKB:Q6P3G4, ECO:0000269|PubMed:26562023}. |
Q6IQ23 | PLEKHA7 | S545 | ochoa | Pleckstrin homology domain-containing family A member 7 (PH domain-containing family A member 7) | Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site (PubMed:19041755). Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33 (PubMed:30463011). {ECO:0000269|PubMed:19041755, ECO:0000269|PubMed:30463011}. |
Q6N021 | TET2 | S1107 | ochoa | Methylcytosine dioxygenase TET2 (EC 1.14.11.80) | Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. {ECO:0000269|PubMed:19483684, ECO:0000269|PubMed:21057493, ECO:0000269|PubMed:21817016, ECO:0000269|PubMed:23222540, ECO:0000269|PubMed:23353889, ECO:0000269|PubMed:24315485, ECO:0000269|PubMed:32518946}. |
Q6NSJ2 | PHLDB3 | S254 | ochoa | Pleckstrin homology-like domain family B member 3 | None |
Q6P1J9 | CDC73 | S465 | psp | Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein) | Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors. {ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15923622, ECO:0000269|PubMed:16630820, ECO:0000269|PubMed:16989776, ECO:0000269|PubMed:19136632, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742, ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}. |
Q6P435 | None | S111 | ochoa | Putative uncharacterized SMG1-like protein | None |
Q6P444 | MTFR2 | S343 | ochoa | Mitochondrial fission regulator 2 (DUF729 domain-containing protein 1) | May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity). {ECO:0000250}. |
Q6PL18 | ATAD2 | S696 | ochoa | ATPase family AAA domain-containing protein 2 (EC 3.6.1.-) (AAA nuclear coregulator cancer-associated protein) (ANCCA) | May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells. {ECO:0000269|PubMed:17998543}. |
Q6UWZ7 | ABRAXAS1 | S336 | ochoa | BRCA1-A complex subunit Abraxas 1 (Coiled-coil domain-containing protein 98) (Protein FAM175A) | Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:22357538, ECO:0000269|PubMed:26778126}. |
Q6ZSB9 | ZBTB49 | S178 | ochoa | Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509) | Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. {ECO:0000269|PubMed:25245946}.; FUNCTION: [Isoform 1]: Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive). {ECO:0000269|PubMed:25245946}.; FUNCTION: [Isoform 3]: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter. {ECO:0000269|PubMed:25245946}. |
Q6ZW49 | PAXIP1 | S332 | ochoa | PAX-interacting protein 1 (PAX transactivation activation domain-interacting protein) | Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity). {ECO:0000250|UniProtKB:Q6NZQ4, ECO:0000269|PubMed:14576432, ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115, ECO:0000269|PubMed:17925232, ECO:0000269|PubMed:18353733, ECO:0000269|PubMed:20088963, ECO:0000269|PubMed:23727112}. |
Q76FK4 | NOL8 | S617 | ochoa | Nucleolar protein 8 (Nucleolar protein Nop132) | Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells. {ECO:0000269|PubMed:14660641, ECO:0000269|PubMed:15132771, ECO:0000269|PubMed:16963496}. |
Q76I76 | SSH2 | S1283 | ochoa | Protein phosphatase Slingshot homolog 2 (EC 3.1.3.16) (EC 3.1.3.48) (SSH-like protein 2) (SSH-2L) (hSSH-2L) | Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein (PubMed:11832213). Required for spermatogenesis (By similarity). Involved in acrosome biogenesis, probably by regulating cofilin-mediated actin cytoskeleton remodeling during proacrosomal vesicle fusion and/or Golgi to perinuclear vesicle trafficking (By similarity). {ECO:0000250|UniProtKB:Q5SW75, ECO:0000269|PubMed:11832213}. |
Q7L5Y9 | MAEA | S311 | ochoa | E3 ubiquitin-protein transferase MAEA (EC 2.3.2.27) (Cell proliferation-inducing gene 5 protein) (Erythroblast macrophage protein) (Human lung cancer oncogene 10 protein) (HLC-10) (Macrophage erythroblast attacher) (P44EMLP) | Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable). {ECO:0000250|UniProtKB:Q4VC33, ECO:0000269|PubMed:29911972, ECO:0000269|PubMed:9763581, ECO:0000305|PubMed:16510120}. |
Q7Z333 | SETX | S1330 | ochoa | Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin) | Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111). {ECO:0000250|UniProtKB:A2AKX3, ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:19515850, ECO:0000269|PubMed:21112256, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:21700224, ECO:0000269|PubMed:24105744, ECO:0000269|PubMed:26700805}. |
Q7Z3U7 | MON2 | S1177 | ochoa | Protein MON2 homolog (Protein SF21) | Plays a role in regulating membrane trafficking of cargo proteins. Together with ATP9A and DOP1B, regulates SNX3 retromer-mediated endosomal sorting of WLS away from lysosomal degradation. {ECO:0000269|PubMed:30213940}. |
Q7Z4H7 | HAUS6 | S507 | ochoa | HAUS augmin-like complex subunit 6 | Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin. {ECO:0000269|PubMed:19029337, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. |
Q7Z4V5 | HDGFL2 | S490 | ochoa | Hepatoma-derived growth factor-related protein 2 (HDGF-related protein 2) (HRP-2) (Hepatoma-derived growth factor 2) (HDGF-2) | Acts as an epigenetic regulator of myogenesis in cooperation with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Associates with the BAF complex via its interaction with DPF3a and HDGFL2-DPF3a activate myogenic genes by increasing chromatin accessibility through recruitment of SMARCA4/BRG1/BAF190A (ATPase subunit of the BAF complex) to myogenic gene promoters (PubMed:32459350). Promotes the repair of DNA double-strand breaks (DSBs) through the homologous recombination pathway by facilitating the recruitment of the DNA endonuclease RBBP8 to the DSBs (PubMed:26721387). Preferentially binds to chromatin regions marked by H3K9me3, H3K27me3 and H3K36me2 (PubMed:26721387, PubMed:32459350). Involved in cellular growth control, through the regulation of cyclin D1 expression (PubMed:25689719). {ECO:0000269|PubMed:25689719, ECO:0000269|PubMed:26721387, ECO:0000269|PubMed:32459350}. |
Q7Z5J4 | RAI1 | S1266 | 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}. |
Q7Z7G8 | VPS13B | S1019 | ochoa | Intermembrane lipid transfer protein VPS13B (Cohen syndrome protein 1) (Vacuolar protein sorting-associated protein 13B) | Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:24334764, PubMed:30962439, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity). {ECO:0000250|UniProtKB:Q07878, ECO:0000250|UniProtKB:Q80TY5, ECO:0000269|PubMed:21865173, ECO:0000269|PubMed:24334764, ECO:0000269|PubMed:26358774, ECO:0000269|PubMed:30962439, ECO:0000269|PubMed:32375900, ECO:0000269|PubMed:32560273, ECO:0000305|PubMed:25492866, ECO:0000305|PubMed:32560273}. |
Q86W56 | PARG | S323 | ochoa | Poly(ADP-ribose) glycohydrolase (EC 3.2.1.143) | Poly(ADP-ribose) glycohydrolase that degrades poly(ADP-ribose) by hydrolyzing the ribose-ribose bonds present in poly(ADP-ribose) (PubMed:15450800, PubMed:21892188, PubMed:23102699, PubMed:23474714, PubMed:33186521, PubMed:34019811, PubMed:34321462). PARG acts both as an endo- and exoglycosidase, releasing poly(ADP-ribose) of different length as well as ADP-ribose monomers (PubMed:23102699, PubMed:23481255). It is however unable to cleave the ester bond between the terminal ADP-ribose and ADP-ribosylated residues, leaving proteins that are mono-ADP-ribosylated (PubMed:21892188, PubMed:23474714, PubMed:33186521). Poly(ADP-ribose) is synthesized after DNA damage is only present transiently and is rapidly degraded by PARG (PubMed:23102699, PubMed:34019811). Required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress, while it is not required for recovery from transient replicative stress (PubMed:24906880). Responsible for the prevalence of mono-ADP-ribosylated proteins in cells, thanks to its ability to degrade poly(ADP-ribose) without cleaving the terminal protein-ribose bond (PubMed:33186521). Required for retinoid acid-dependent gene transactivation, probably by removing poly(ADP-ribose) from histone demethylase KDM4D, allowing chromatin derepression at RAR-dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). {ECO:0000269|PubMed:15450800, ECO:0000269|PubMed:21892188, ECO:0000269|PubMed:23102699, ECO:0000269|PubMed:23474714, ECO:0000269|PubMed:23481255, ECO:0000269|PubMed:24906880, ECO:0000269|PubMed:27257257, ECO:0000269|PubMed:33186521, ECO:0000269|PubMed:34019811, ECO:0000269|PubMed:34321462}. |
Q86XR8 | CEP57 | S388 | ochoa | Centrosomal protein of 57 kDa (Cep57) (FGF2-interacting protein) (Testis-specific protein 57) (Translokin) | Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. {ECO:0000269|PubMed:22321063}. |
Q8IV63 | VRK3 | S136 | ochoa|psp | Serine/threonine-protein kinase VRK3 (EC 2.7.11.22) (Vaccinia-related kinase 3) | Plays a role in the regulation of the cell cycle by phosphorylating the nuclear envelope protein barrier-to-autointegration factor/BAF that is required for disassembly and reassembly, respectively, of the nuclear envelope during mitosis (PubMed:25899223). Under normal physiological conditions, negatively regulates ERK activity along with VHR/DUSP3 phosphatase in the nucleus, causing timely and transient action of ERK. Stress conditions activate CDK5 which phosphorylates VRK3 to increase VHR phosphatase activity and suppress prolonged ERK activation that causes cell death (PubMed:27346674). For example, upon glutamate induction, promotes nuclear localization of HSP70/HSPA1A to inhibit ERK activation via VHR/DUSP3 phosphatase (PubMed:27941812). {ECO:0000250|UniProtKB:Q8K3G5, ECO:0000269|PubMed:14645249, ECO:0000269|PubMed:19141289, ECO:0000269|PubMed:25899223, ECO:0000269|PubMed:27346674, ECO:0000269|PubMed:27941812}. |
Q8IVH2 | FOXP4 | S57 | ochoa | Forkhead box protein P4 (Fork head-related protein-like A) | Transcriptional repressor that represses lung-specific expression. {ECO:0000250}. |
Q8IVW6 | ARID3B | S165 | ochoa | AT-rich interactive domain-containing protein 3B (ARID domain-containing protein 3B) (Bright and dead ringer protein) (Bright-like protein) | Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A. {ECO:0000269|PubMed:16951138, ECO:0000269|PubMed:17400556}. |
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}. |
Q8IYB4 | PEX5L | S447 | ochoa | PEX5-related protein (PEX2-related protein) (PEX5-like protein) (Peroxin-5-related protein) (Peroxisome biogenesis factor 5-like) (Tetratricopeptide repeat-containing Rab8b-interacting protein) (Pex5Rp) (TRIP8b) | Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence. {ECO:0000250|UniProtKB:Q8C437}. |
Q8IYD8 | FANCM | S1437 | ochoa | Fanconi anemia group M protein (Protein FACM) (EC 3.6.4.13) (ATP-dependent RNA helicase FANCM) (Fanconi anemia-associated polypeptide of 250 kDa) (FAAP250) (Protein Hef ortholog) | DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434). {ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:16116434, ECO:0000269|PubMed:17289582, ECO:0000269|PubMed:19423727, ECO:0000269|PubMed:20347428, ECO:0000269|PubMed:20347429, ECO:0000269|PubMed:29231814}. |
Q8N0X7 | SPART | S470 | ochoa | Spartin (Spastic paraplegia 20 protein) (Trans-activated by hepatitis C virus core protein 1) | Lipophagy receptor that plays an important role in lipid droplet (LD) turnover in motor neurons (PubMed:37443287). Localizes to LDs and interacts with components of the autophagy machinery, such as MAP1LC3A/C proteins to deliver LDs to autophagosomes for degradation via lipophagy (PubMed:37443287). Lipid transfer protein required for lipid droplet degradation, including by lipophagy (PubMed:38190532). Can bind and transfer all lipid species found in lipid droplets, from phospholipids to triglycerides and sterol esters but the direction of lipid transfer by spartin and its cargos are unknown (PubMed:38190532). May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964). {ECO:0000269|PubMed:20719964, ECO:0000269|PubMed:37443287, ECO:0000269|PubMed:38190532}. |
Q8N3K9 | CMYA5 | S1168 | 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}. |
Q8N6T3 | ARFGAP1 | S129 | ochoa | ADP-ribosylation factor GTPase-activating protein 1 (ARF GAP 1) (ADP-ribosylation factor 1 GTPase-activating protein) (ARF1 GAP) (ARF1-directed GTPase-activating protein) | GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity). {ECO:0000250}. |
Q8NEF9 | SRFBP1 | S203 | ochoa | Serum response factor-binding protein 1 (SRF-dependent transcription regulation-associated protein) (p49/STRAP) | May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity). {ECO:0000250|UniProtKB:Q9CZ91}. |
Q8TAP6 | CEP76 | S83 | ochoa|psp | Centrosomal protein of 76 kDa (Cep76) | Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication. {ECO:0000269|PubMed:19460342}. |
Q8TBE0 | BAHD1 | S44 | ochoa | Bromo adjacent homology domain-containing 1 protein (BAH domain-containing protein 1) | Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3. {ECO:0000269|PubMed:19666599, ECO:0000269|PubMed:21252314}. |
Q8TDB6 | DTX3L | S202 | ochoa | E3 ubiquitin-protein ligase DTX3L (EC 2.3.2.27) (B-lymphoma- and BAL-associated protein) (Protein deltex-3-like) (RING-type E3 ubiquitin transferase DTX3L) (Rhysin-2) (Rhysin2) | E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (PubMed:12670957, PubMed:19818714, PubMed:23230272, PubMed:26479788). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 (PubMed:28525742). In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1) (PubMed:19818714). The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 'Lys-20' methylation (H4K20me) (PubMed:19818714). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinating histone H2B H2BC9/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication (PubMed:26479788). Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:24790097). In addition, required for the recruitment of HGS and STAM to early endosomes (PubMed:24790097). In association with PARP9, plays a role in antiviral responses by mediating 'Lys-48'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteasomal-mediated degradation (PubMed:26479788). {ECO:0000269|PubMed:12670957, ECO:0000269|PubMed:19818714, ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:26479788, ECO:0000269|PubMed:28525742}. |
Q8TDJ6 | DMXL2 | S473 | ochoa | DmX-like protein 2 (Rabconnectin-3) | May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). {ECO:0000250|UniProtKB:Q8BPN8, ECO:0000269|PubMed:11809763}. |
Q8TED9 | AFAP1L1 | S329 | ochoa | Actin filament-associated protein 1-like 1 (AFAP1-like protein 1) | May be involved in podosome and invadosome formation. {ECO:0000269|PubMed:21333378}. |
Q8TEK3 | DOT1L | S1153 | ochoa | Histone-lysine N-methyltransferase, H3 lysine-79 specific (EC 2.1.1.360) (DOT1-like protein) (Histone H3-K79 methyltransferase) (H3-K79-HMTase) (Lysine N-methyltransferase 4) | Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190). {ECO:0000269|PubMed:12123582, ECO:0000269|PubMed:12628190}. |
Q8WUB8 | PHF10 | S270 | ochoa | PHD finger protein 10 (BRG1-associated factor 45a) (BAF45a) (XAP135) | Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic 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 post-mitotic 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}. |
Q8WXH2 | JPH3 | S457 | ochoa | Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein) | Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory. |
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}. |
Q92585 | MAML1 | S120 | ochoa | Mastermind-like protein 1 (Mam-1) | Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. {ECO:0000269|PubMed:11101851, ECO:0000269|PubMed:11390662, ECO:0000269|PubMed:12050117, ECO:0000269|PubMed:15546612, ECO:0000269|PubMed:17317671}. |
Q92585 | MAML1 | S314 | ochoa | Mastermind-like protein 1 (Mam-1) | Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. {ECO:0000269|PubMed:11101851, ECO:0000269|PubMed:11390662, ECO:0000269|PubMed:12050117, ECO:0000269|PubMed:15546612, ECO:0000269|PubMed:17317671}. |
Q92608 | DOCK2 | S1685 | ochoa | Dedicator of cytokinesis protein 2 | Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2. {ECO:0000269|PubMed:21613211}. |
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}. |
Q92769 | HDAC2 | S347 | ochoa | Histone deacetylase 2 (HD2) (EC 3.5.1.98) (Protein deacylase HDAC2) (EC 3.5.1.-) | Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (By similarity). Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR (PubMed:12724404). Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development (By similarity). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Component of the SIN3B complex that represses transcription and counteracts the histone acetyltransferase activity of EP300 through the recognition H3K27ac marks by PHF12 and the activity of the histone deacetylase HDAC2 (PubMed:37137925). Also deacetylates non-histone targets: deacetylates TSHZ3, thereby regulating its transcriptional repressor activity (PubMed:19343227). May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation (By similarity). Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A (PubMed:21965678). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by recognizing other acyl groups: catalyzes removal of (2E)-butenoyl (crotonyl), lactoyl (lactyl) and 2-hydroxyisobutanoyl (2-hydroxyisobutyryl) acyl groups from lysine residues, leading to protein decrotonylation, delactylation and de-2-hydroxyisobutyrylation, respectively (PubMed:28497810, PubMed:29192674, PubMed:35044827). {ECO:0000250|UniProtKB:P70288, ECO:0000269|PubMed:12724404, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:19343227, ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:28497810, ECO:0000269|PubMed:28977666, ECO:0000269|PubMed:29192674, ECO:0000269|PubMed:35044827, ECO:0000269|PubMed:37137925}. |
Q92918 | MAP4K1 | S737 | ochoa | Mitogen-activated protein kinase kinase kinase kinase 1 (EC 2.7.11.1) (Hematopoietic progenitor kinase) (MAPK/ERK kinase kinase kinase 1) (MEK kinase kinase 1) (MEKKK 1) | Serine/threonine-protein kinase, which plays a role in the response to environmental stress (PubMed:24362026). Appears to act upstream of the JUN N-terminal pathway (PubMed:8824585). 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). May play a role in hematopoietic lineage decisions and growth regulation (PubMed:24362026, PubMed:8824585). Together with CLNK, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity). {ECO:0000250|UniProtKB:P70218, ECO:0000269|PubMed:24362026, ECO:0000269|PubMed:26437443, ECO:0000269|PubMed:8824585}. |
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}. |
Q96B01 | RAD51AP1 | S139 | ochoa | RAD51-associated protein 1 (HsRAD51AP1) (RAD51-interacting protein) | Structure-specific DNA-binding protein involved in DNA repair by promoting RAD51-mediated homologous recombination (PubMed:17996710, PubMed:17996711, PubMed:20871616, PubMed:25288561, PubMed:26323318). Acts by stimulating D-Loop formation by RAD51: specifically enhances joint molecule formation through its structure-specific DNA interaction and its interaction with RAD51 (PubMed:17996710, PubMed:17996711). Binds single-stranded DNA (ssDNA), double-stranded DNA (dsDNA) and secondary DNA structures, such as D-loop structures: has a strong preference for branched-DNA structures that are obligatory intermediates during joint molecule formation (PubMed:17996710, PubMed:17996711, PubMed:22375013, PubMed:9396801). Cooperates with WDR48/UAF1 to stimulate RAD51-mediated homologous recombination: both WDR48/UAF1 and RAD51AP1 have coordinated role in DNA-binding during homologous recombination and DNA repair (PubMed:27239033, PubMed:27463890, PubMed:32350107). WDR48/UAF1 and RAD51AP1 also have a coordinated role in DNA-binding to promote USP1-mediated deubiquitination of FANCD2 (PubMed:31253762). Also involved in meiosis by promoting DMC1-mediated homologous meiotic recombination (PubMed:21307306). Key mediator of alternative lengthening of telomeres (ALT) pathway, a homology-directed repair mechanism of telomere elongation that controls proliferation in aggressive cancers, by stimulating homologous recombination (PubMed:31400850). May also bind RNA; additional evidences are however required to confirm RNA-binding in vivo (PubMed:9396801). {ECO:0000269|PubMed:17996710, ECO:0000269|PubMed:17996711, ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:21307306, ECO:0000269|PubMed:22375013, ECO:0000269|PubMed:25288561, ECO:0000269|PubMed:26323318, ECO:0000269|PubMed:27239033, ECO:0000269|PubMed:27463890, ECO:0000269|PubMed:31253762, ECO:0000269|PubMed:31400850, ECO:0000269|PubMed:32350107, ECO:0000269|PubMed:9396801}. |
Q96CC6 | RHBDF1 | S61 | ochoa | Inactive rhomboid protein 1 (iRhom1) (Epidermal growth factor receptor-related protein) (Rhomboid 5 homolog 1) (Rhomboid family member 1) (p100hRho) | Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18524845, ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629}. |
Q96F05 | C11orf24 | S61 | ochoa | Uncharacterized protein C11orf24 (Protein DM4E3) | None |
Q96FF9 | CDCA5 | S181 | ochoa|psp | Sororin (Cell division cycle-associated protein 5) (p35) | Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair. {ECO:0000269|PubMed:15837422, ECO:0000269|PubMed:17349791, ECO:0000269|PubMed:21111234}. |
Q96J01 | THOC3 | S308 | ochoa | THO complex subunit 3 (Tho3) (TEX1 homolog) (hTREX45) | 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 (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). {ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, 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}. |
Q96JM3 | CHAMP1 | S736 | 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}. |
Q96PY6 | NEK1 | S1008 | ochoa | Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55) | Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617). {ECO:0000250|UniProtKB:P51954, ECO:0000269|PubMed:20230784, ECO:0000269|PubMed:21211617}. |
Q96Q15 | SMG1 | S115 | ochoa | Serine/threonine-protein kinase SMG1 (SMG-1) (hSMG-1) (EC 2.7.11.1) (Lambda/iota protein kinase C-interacting protein) (Lambda-interacting protein) (Nonsense mediated mRNA decay-associated PI3K-related kinase SMG1) | Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269, ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154, ECO:0000269|PubMed:16452507}. |
Q96RT1 | ERBIN | S569 | ochoa | Erbin (Densin-180-like protein) (Erbb2-interacting protein) (Protein LAP2) | Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and pro-inflammatory cytokine secretion (PubMed:16203728). {ECO:0000269|PubMed:10878805, ECO:0000269|PubMed:16203728}. |
Q99598 | TSNAX | S33 | ochoa | Translin-associated protein X (Translin-associated factor X) | Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis. {ECO:0000269|PubMed:12036294, ECO:0000269|PubMed:21552258}. |
Q99700 | ATXN2 | S784 | ochoa | Ataxin-2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat-containing gene 13 protein) | Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. {ECO:0000269|PubMed:18602463}. |
Q99708 | RBBP8 | S276 | psp | DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2) | Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:23273981, PubMed:26721387, PubMed:27814491, PubMed:27889449, PubMed:30787182). HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse (PubMed:17965729, PubMed:19202191, PubMed:23273981, PubMed:27814491, PubMed:27889449, PubMed:30787182). Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ) (PubMed:19202191). Specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts: recruited to DSBs by NBN following phosphorylation by CDK1, and promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends (PubMed:27814491, PubMed:27889449, PubMed:30787182, PubMed:33836577). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA (PubMed:16581787, PubMed:17965729, PubMed:19759395, PubMed:20064462). Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:15485915, PubMed:16818604). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity). Binds preferentially to DNA Y-junctions and to DNA substrates with blocked ends and promotes intermolecular DNA bridging (PubMed:30601117). {ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:15485915, ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191, ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462, ECO:0000269|PubMed:23273981, ECO:0000269|PubMed:26721387, ECO:0000269|PubMed:27814491, ECO:0000269|PubMed:27889449, ECO:0000269|PubMed:30601117, ECO:0000269|PubMed:30787182, ECO:0000269|PubMed:33836577}. |
Q9BQF6 | SENP7 | S46 | ochoa | Sentrin-specific protease 7 (EC 3.4.22.-) (SUMO-1-specific protease 2) (Sentrin/SUMO-specific protease SENP7) | Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS. Desumoylation of CGAS promotes DNA-binding activity of CGAS, subsequent oligomerization and activation (By similarity). Deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1 (PubMed:18799455). Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains (PubMed:18799455). Has very low efficiency in processing full-length SUMO proteins to their mature forms (PubMed:18799455). {ECO:0000250|UniProtKB:Q8BUH8, ECO:0000269|PubMed:18799455}. |
Q9BQF6 | SENP7 | S92 | ochoa | Sentrin-specific protease 7 (EC 3.4.22.-) (SUMO-1-specific protease 2) (Sentrin/SUMO-specific protease SENP7) | Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS. Desumoylation of CGAS promotes DNA-binding activity of CGAS, subsequent oligomerization and activation (By similarity). Deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1 (PubMed:18799455). Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains (PubMed:18799455). Has very low efficiency in processing full-length SUMO proteins to their mature forms (PubMed:18799455). {ECO:0000250|UniProtKB:Q8BUH8, ECO:0000269|PubMed:18799455}. |
Q9BRH9 | ZNF251 | S576 | ochoa | Zinc finger protein 251 | May be involved in transcriptional regulation. |
Q9BSQ5 | CCM2 | S164 | ochoa | Cerebral cavernous malformations 2 protein (Malcavernin) | Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). {ECO:0000250}. |
Q9BSW7 | SYT17 | S119 | ochoa | Synaptotagmin-17 (Protein B/K) (Synaptotagmin XVII) (SytXVII) | Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}. |
Q9BTC8 | MTA3 | S457 | ochoa | Metastasis-associated protein MTA3 | Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:12705869, PubMed:16428440, PubMed:28977666). Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels (PubMed:12705869). Contributes to transcriptional repression by BCL6 (PubMed:15454082). {ECO:0000269|PubMed:12705869, ECO:0000269|PubMed:15454082, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:28977666}. |
Q9BTE3 | MCMBP | S298 | 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}. |
Q9BUB5 | MKNK1 | S226 | ochoa | MAP kinase-interacting serine/threonine-protein kinase 1 (EC 2.7.11.1) (MAP kinase signal-integrating kinase 1) (MAPK signal-integrating kinase 1) (Mnk1) | May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. {ECO:0000269|PubMed:11463832, ECO:0000269|PubMed:15350534, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9878069}. |
Q9BV73 | CEP250 | S2259 | ochoa | Centrosome-associated protein CEP250 (250 kDa centrosomal protein) (Cep250) (Centrosomal Nek2-associated protein 1) (C-Nap1) (Centrosomal protein 2) | Plays an important role in centrosome cohesion during interphase (PubMed:30404835, PubMed:36282799). Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). Maintains centrosome cohesion by forming intercentriolar linkages (PubMed:36282799). Accumulates at the proximal end of each centriole, forming supramolecular assemblies with viscous material properties that promote organelle cohesion (PubMed:36282799). May be involved in ciliogenesis (PubMed:28005958). {ECO:0000269|PubMed:28005958, ECO:0000269|PubMed:30404835, ECO:0000269|PubMed:36282799}. |
Q9BVI0 | PHF20 | S248 | ochoa | PHD finger protein 20 (Glioma-expressed antigen 2) (Hepatocellular carcinoma-associated antigen 58) (Novel zinc finger protein) (Transcription factor TZP) | Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage. {ECO:0000250, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:22864287}. |
Q9BW04 | SARG | S502 | ochoa | Specifically androgen-regulated gene protein | Putative androgen-specific receptor. {ECO:0000269|PubMed:15525603}. |
Q9BXL6 | CARD14 | S60 | ochoa | Caspase recruitment domain-containing protein 14 (CARD-containing MAGUK protein 2) (Carma 2) | Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27071417, PubMed:27113748). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis. {ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:21302310, ECO:0000269|PubMed:27071417, ECO:0000269|PubMed:27113748}.; FUNCTION: [Isoform 3]: Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359). {ECO:0000269|PubMed:21302310, ECO:0000269|PubMed:26358359}. |
Q9BYW2 | SETD2 | S614 | ochoa | Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) | Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}. |
Q9BYW2 | SETD2 | S676 | ochoa | Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) | Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}. |
Q9BYX2 | TBC1D2 | S240 | ochoa | TBC1 domain family member 2A (Armus) (Prostate antigen recognized and identified by SEREX 1) (PARIS-1) | Acts as a GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion. {ECO:0000269|PubMed:20116244}. |
Q9BZF9 | UACA | S410 | ochoa | Uveal autoantigen with coiled-coil domains and ankyrin repeats | Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity). {ECO:0000250}.; FUNCTION: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury. May be involved in multiple neurite formation (By similarity). {ECO:0000250|UniProtKB:Q8CGB3, ECO:0000250|UniProtKB:Q8HYY4}. |
Q9C0D7 | ZC3H12C | S232 | ochoa | Probable ribonuclease ZC3H12C (EC 3.1.-.-) (MCP-induced protein 3) (Zinc finger CCCH domain-containing protein 12C) | May function as RNase and regulate the levels of target RNA species. {ECO:0000305}. |
Q9H0B6 | KLC2 | S151 | ochoa | Kinesin light chain 2 (KLC 2) | Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with PLEKHM2 and ARL8B, recruits kinesin-1 to lysosomes and hence direct lysosomes movement toward microtubule plus ends (PubMed:22172677). {ECO:0000269|PubMed:22172677, ECO:0000305|PubMed:22172677}. |
Q9H0B6 | KLC2 | S445 | ochoa | Kinesin light chain 2 (KLC 2) | Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with PLEKHM2 and ARL8B, recruits kinesin-1 to lysosomes and hence direct lysosomes movement toward microtubule plus ends (PubMed:22172677). {ECO:0000269|PubMed:22172677, ECO:0000305|PubMed:22172677}. |
Q9H2G9 | BLZF1 | S284 | ochoa | Golgin-45 (Basic leucine zipper nuclear factor 1) (JEM-1) (p45 basic leucine-zipper nuclear factor) | Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. {ECO:0000269|PubMed:11739401}. |
Q9H2P0 | ADNP | S970 | ochoa | Activity-dependent neuroprotector homeobox protein (Activity-dependent neuroprotective protein) | May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity). {ECO:0000250|UniProtKB:Q9Z103}. |
Q9H4B6 | SAV1 | S27 | ochoa|psp | Protein salvador homolog 1 (45 kDa WW domain protein) (hWW45) | Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:29063833). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation. {ECO:0000269|PubMed:16930133, ECO:0000269|PubMed:19212654, ECO:0000269|PubMed:21076410, ECO:0000269|PubMed:21104395, ECO:0000269|PubMed:29063833}. |
Q9H4L5 | OSBPL3 | S372 | ochoa | Oxysterol-binding protein-related protein 3 (ORP-3) (OSBP-related protein 3) | Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193). {ECO:0000269|PubMed:16143324, ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:18270267, ECO:0000269|PubMed:25447204}. |
Q9H4M9 | EHD1 | S349 | ochoa | EH domain-containing protein 1 (PAST homolog 1) (hPAST1) (Testilin) | ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis (PubMed:31615969). Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). {ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250, ECO:0000269|PubMed:31615969}. |
Q9H582 | ZNF644 | S1189 | ochoa | Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2) | May be involved in transcriptional regulation. |
Q9H7C9 | AAMDC | S46 | ochoa | Mth938 domain-containing protein (Adipogenesis associated Mth938 domain-containing protein) | May play a role in preadipocyte differentiation and adipogenesis. {ECO:0000250}. |
Q9H869 | YY1AP1 | S252 | ochoa | YY1-associated protein 1 (Hepatocellular carcinoma susceptibility protein) (Hepatocellular carcinoma-associated protein 2) | Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641). {ECO:0000269|PubMed:14744866, ECO:0000269|PubMed:17541814, ECO:0000269|PubMed:27939641}. |
Q9NQ88 | TIGAR | S157 | ochoa | Fructose-2,6-bisphosphatase TIGAR (EC 3.1.3.46) (TP53-induced glycolysis and apoptosis regulator) (TP53-induced glycolysis regulatory phosphatase) | Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production (PubMed:16839880, PubMed:22887998). Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death (PubMed:16839880, PubMed:19713938, PubMed:22887998, PubMed:23726973, PubMed:23817040). Plays a role in promoting protection against cell death during hypoxia by decreasing mitochondria ROS levels in a HK2-dependent manner through a mechanism that is independent of its fructose-bisphosphatase activity (PubMed:23185017). In response to cardiac damage stress, mediates p53-induced inhibition of myocyte mitophagy through ROS levels reduction and the subsequent inactivation of BNIP3. Reduced mitophagy results in an enhanced apoptotic myocyte cell death, and exacerbates cardiac damage (By similarity). Plays a role in adult intestinal regeneration; contributes to the growth, proliferation and survival of intestinal crypts following tissue ablation (PubMed:23726973). Plays a neuroprotective role against ischemic brain damage by enhancing PPP flux and preserving mitochondria functions (By similarity). Protects glioma cells from hypoxia- and ROS-induced cell death by inhibiting glycolysis and activating mitochondrial energy metabolism and oxygen consumption in a TKTL1-dependent and p53/TP53-independent manner (PubMed:22887998). Plays a role in cancer cell survival by promoting DNA repair through activating PPP flux in a CDK5-ATM-dependent signaling pathway during hypoxia and/or genome stress-induced DNA damage responses (PubMed:25928429). Involved in intestinal tumor progression (PubMed:23726973). {ECO:0000250|UniProtKB:Q8BZA9, ECO:0000269|PubMed:16839880, ECO:0000269|PubMed:19015259, ECO:0000269|PubMed:19713938, ECO:0000269|PubMed:22887998, ECO:0000269|PubMed:23185017, ECO:0000269|PubMed:23726973, ECO:0000269|PubMed:23817040, ECO:0000269|PubMed:25928429}. |
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}. |
Q9NSK0 | KLC4 | S460 | ochoa | Kinesin light chain 4 (KLC 4) (Kinesin-like protein 8) | Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). {ECO:0000250}. |
Q9NXH9 | TRMT1 | S517 | ochoa | tRNA (guanine(26)-N(2))-dimethyltransferase (EC 2.1.1.216) (tRNA 2,2-dimethylguanosine-26 methyltransferase) (tRNA methyltransferase 1) (hTRM1) (tRNA(guanine-26,N(2)-N(2)) methyltransferase) (tRNA(m(2,2)G26)dimethyltransferase) | Dimethylates a single guanine residue at position 26 of most nuclear- and mitochondrial-encoded tRNAs using S-adenosyl-L-methionine as donor of the methyl groups (PubMed:10982862, PubMed:28784718, PubMed:37204604, PubMed:39786990). tRNA guanine(26)-dimethylation is required for redox homeostasis and ensure proper cellular proliferation and oxidative stress survival (PubMed:28784718). {ECO:0000269|PubMed:10982862, ECO:0000269|PubMed:28784718, ECO:0000269|PubMed:37204604, ECO:0000269|PubMed:39786990}. |
Q9P1Z2 | CALCOCO1 | S77 | ochoa | Calcium-binding and coiled-coil domain-containing protein 1 (Calphoglin) (Coiled-coil coactivator protein) (Sarcoma antigen NY-SAR-3) | Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). {ECO:0000250|UniProtKB:Q8CGU1, ECO:0000269|PubMed:24245781}.; FUNCTION: Seems to enhance inorganic pyrophosphatase thus activating phosphogluomutase (PMG). Probably functions as a component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth. {ECO:0000269|Ref.1}. |
Q9P202 | WHRN | S245 | ochoa | Whirlin (Autosomal recessive deafness type 31 protein) | Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. {ECO:0000250|UniProtKB:Q80VW5}. |
Q9P203 | BTBD7 | S722 | ochoa | BTB/POZ domain-containing protein 7 | Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity). {ECO:0000250}. |
Q9P227 | ARHGAP23 | S1412 | ochoa | Rho GTPase-activating protein 23 (Rho-type GTPase-activating protein 23) | GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}. |
Q9UBW7 | ZMYM2 | S624 | ochoa | Zinc finger MYM-type protein 2 (Fused in myeloproliferative disorders protein) (Rearranged in atypical myeloproliferative disorder protein) (Zinc finger protein 198) | Involved in the negative regulation of transcription. {ECO:0000269|PubMed:32891193}. |
Q9UER7 | DAXX | S178 | ochoa|psp | Death domain-associated protein 6 (Daxx) (hDaxx) (ETS1-associated protein 1) (EAP1) (Fas death domain-associated protein) | Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2 ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2 self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53 stabilization. Acts as a histone chaperone that facilitates deposition of histone H3.3. Acts as a targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upon neuronal activation associates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5 and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis may not involve DAXX. Shows restriction activity towards human cytomegalovirus (HCMV). Plays a role as a positive regulator of the heat shock transcription factor HSF1 activity during the stress protein response (PubMed:15016915). {ECO:0000269|PubMed:12140263, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:15016915, ECO:0000269|PubMed:15364927, ECO:0000269|PubMed:16845383, ECO:0000269|PubMed:17081986, ECO:0000269|PubMed:17942542, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:23222847, ECO:0000269|PubMed:24200965, ECO:0000269|PubMed:24530302}. |
Q9UKD1 | GMEB2 | S126 | ochoa | Glucocorticoid modulatory element-binding protein 2 (GMEB-2) (DNA-binding protein p79PIF) (Parvovirus initiation factor p79) (PIF p79) | Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Also binds to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. |
Q9UKL3 | CASP8AP2 | S858 | ochoa | CASP8-associated protein 2 (FLICE-associated huge protein) | Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase. {ECO:0000269|PubMed:12477726, ECO:0000269|PubMed:15698540, ECO:0000269|PubMed:17003125, ECO:0000269|PubMed:17245429}. |
Q9ULD5 | ZNF777 | S604 | ochoa | Zinc finger protein 777 | May be involved in transcriptional repression (PubMed:31856708). Inhibits cell proliferation through CDKN1A/p21 induction by down-regulation of NIBAN1/FAM129A at low cell density (PubMed:25560148). {ECO:0000269|PubMed:25560148, ECO:0000269|PubMed:31856708}. |
Q9ULE6 | PALD1 | S406 | ochoa | Paladin | None |
Q9UQL6 | HDAC5 | S755 | psp | Histone deacetylase 5 (HD5) (EC 3.5.1.98) (Antigen NY-CO-9) | Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Serves as a corepressor of RARA and causes its deacetylation (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). {ECO:0000269|PubMed:24413532, ECO:0000269|PubMed:28167758}. |
Q9Y2Q9 | MRPS28 | S73 | ochoa | Small ribosomal subunit protein bS1m (28S ribosomal protein S28, mitochondrial) (MRP-S28) (S28mt) (28S ribosomal protein S35, mitochondrial) (MRP-S35) (S35mt) | None |
Q9Y4B5 | MTCL1 | S1752 | ochoa | Microtubule cross-linking factor 1 (Coiled-coil domain-containing protein 165) (PAR-1-interacting protein) (SOGA family member 2) | Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation (PubMed:23902687). Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells (PubMed:23902687). Required for faithful chromosome segregation during mitosis (PubMed:33587225). {ECO:0000269|PubMed:23902687, ECO:0000269|PubMed:33587225}. |
Q9Y692 | GMEB1 | S129 | ochoa | Glucocorticoid modulatory element-binding protein 1 (GMEB-1) (DNA-binding protein p96PIF) (Parvovirus initiation factor p96) (PIF p96) | Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Also binds to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. |
Q9Y6A5 | TACC3 | S434 | ochoa | Transforming acidic coiled-coil-containing protein 3 (ERIC-1) | Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476). {ECO:0000250|UniProtKB:Q9JJ11, ECO:0000269|PubMed:14767476, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}. |
Q9Y6D6 | ARFGEF1 | S52 | ochoa | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (ADP-ribosylation factor guanine nucleotide-exchange factor 1) (p200 ARF guanine nucleotide exchange factor) (p200 ARF-GEP1) | Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturation of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competitive RhoA binding. The function in the nucleus remains to be determined. {ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15644318, ECO:0000269|PubMed:17227842, ECO:0000269|PubMed:20360857, ECO:0000269|PubMed:22084092}. |
Q86VP6 | CAND1 | S376 | Sugiyama | Cullin-associated NEDD8-dissociated protein 1 (Cullin-associated and neddylation-dissociated protein 1) (TBP-interacting protein of 120 kDa A) (TBP-interacting protein 120A) (p120 CAND1) | Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar role in other cullin-RING E3 ubiquitin ligase complexes. {ECO:0000269|PubMed:12504025, ECO:0000269|PubMed:12504026, ECO:0000269|PubMed:12609982, ECO:0000269|PubMed:16449638, ECO:0000269|PubMed:21249194, ECO:0000269|PubMed:23453757}. |
Q9BQQ3 | GORASP1 | S373 | SIGNOR | Golgi reassembly-stacking protein 1 (Golgi peripheral membrane protein p65) (Golgi phosphoprotein 5) (GOLPH5) (Golgi reassembly-stacking protein of 65 kDa) (GRASP65) | Key structural protein of the Golgi apparatus (PubMed:33301566). The membrane cisternae of the Golgi apparatus adhere to each other to form stacks, which are aligned side by side to form the Golgi ribbon (PubMed:33301566). Acting in concert with GORASP2/GRASP55, is required for the formation and maintenance of the Golgi ribbon, and may be dispensable for the formation of stacks (PubMed:33301566). However, other studies suggest that GORASP1 plays an important role in assembly and membrane stacking of the cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis (By similarity). Caspase-mediated cleavage of GORASP1 is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes (PubMed:16489344). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). {ECO:0000250|UniProtKB:O35254, ECO:0000269|PubMed:16489344, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:33301566}. |
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}. |
Q5S007 | LRRK2 | S2370 | Sugiyama | Leucine-rich repeat serine/threonine-protein kinase 2 (EC 2.7.11.1) (EC 3.6.5.-) (Dardarin) | Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking (PubMed:17114044, PubMed:20949042, PubMed:21850687, PubMed:22012985, PubMed:23395371, PubMed:24687852, PubMed:25201882, PubMed:26014385, PubMed:26824392, PubMed:27830463, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421). Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation (PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421). Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB29, RAB35, and RAB43 (PubMed:23395371, PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421, PubMed:38127736). Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A (PubMed:26824392). Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A (PubMed:26824392). Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain (PubMed:29125462, PubMed:30398148). Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:23395371). Regulates neuronal process morphology in the intact central nervous system (CNS) (PubMed:17114044). Plays a role in synaptic vesicle trafficking (PubMed:24687852). Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882). Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway (PubMed:22012985). The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (PubMed:22012985). Phosphorylates PRDX3 (PubMed:21850687). By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis (PubMed:28720718). Acts as a positive regulator of innate immunity by mediating phosphorylation of RIPK2 downstream of NOD1 and NOD2, thereby enhancing RIPK2 activation (PubMed:27830463). Independent of its kinase activity, inhibits the proteasomal degradation of MAPT, thus promoting MAPT oligomerization and secretion (PubMed:26014385). In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity (PubMed:18230735, PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29212815). Recruited by RAB29/RAB7L1 to overloaded lysosomes where it phosphorylates and stabilizes RAB8A and RAB10 which promote lysosomal content release and suppress lysosomal enlargement through the EHBP1 and EHBP1L1 effector proteins (PubMed:30209220, PubMed:38227290). {ECO:0000269|PubMed:17114044, ECO:0000269|PubMed:18230735, ECO:0000269|PubMed:20949042, ECO:0000269|PubMed:21850687, ECO:0000269|PubMed:22012985, ECO:0000269|PubMed:23395371, ECO:0000269|PubMed:24687852, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:26014385, ECO:0000269|PubMed:26824392, ECO:0000269|PubMed:27830463, ECO:0000269|PubMed:28720718, ECO:0000269|PubMed:29125462, ECO:0000269|PubMed:29127255, ECO:0000269|PubMed:29212815, ECO:0000269|PubMed:30209220, ECO:0000269|PubMed:30398148, ECO:0000269|PubMed:30635421, ECO:0000269|PubMed:38127736, ECO:0000269|PubMed:38227290}. |
Download
reactome_id | name | p | -log10_p |
---|---|---|---|
R-HSA-1640170 | Cell Cycle | 1.473480e-10 | 9.832 |
R-HSA-453274 | Mitotic G2-G2/M phases | 1.688790e-06 | 5.772 |
R-HSA-69278 | Cell Cycle, Mitotic | 2.968762e-06 | 5.527 |
R-HSA-69620 | Cell Cycle Checkpoints | 1.194155e-05 | 4.923 |
R-HSA-69275 | G2/M Transition | 1.959259e-05 | 4.708 |
R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centr... | 3.319718e-05 | 4.479 |
R-HSA-380259 | Loss of Nlp from mitotic centrosomes | 3.319718e-05 | 4.479 |
R-HSA-68877 | Mitotic Prometaphase | 3.018430e-05 | 4.520 |
R-HSA-8854518 | AURKA Activation by TPX2 | 4.673900e-05 | 4.330 |
R-HSA-68886 | M Phase | 6.213351e-05 | 4.207 |
R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition | 5.878712e-05 | 4.231 |
R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes | 9.763233e-05 | 4.010 |
R-HSA-380287 | Centrosome maturation | 1.187945e-04 | 3.925 |
R-HSA-5620912 | Anchoring of the basal body to the plasma membrane | 1.113172e-04 | 3.953 |
R-HSA-4839726 | Chromatin organization | 1.982187e-04 | 3.703 |
R-HSA-3247509 | Chromatin modifying enzymes | 2.784592e-04 | 3.555 |
R-HSA-5693532 | DNA Double-Strand Break Repair | 3.240083e-04 | 3.489 |
R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes | 4.044818e-04 | 3.393 |
R-HSA-9709603 | Impaired BRCA2 binding to PALB2 | 5.719559e-04 | 3.243 |
R-HSA-9701193 | Defective homologous recombination repair (HRR) due to PALB2 loss of function | 6.861233e-04 | 3.164 |
R-HSA-9701192 | Defective homologous recombination repair (HRR) due to BRCA1 loss of function | 6.861233e-04 | 3.164 |
R-HSA-9704331 | Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... | 6.861233e-04 | 3.164 |
R-HSA-9704646 | Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... | 6.861233e-04 | 3.164 |
R-HSA-69481 | G2/M Checkpoints | 6.466825e-04 | 3.189 |
R-HSA-9675135 | Diseases of DNA repair | 8.072693e-04 | 3.093 |
R-HSA-9701190 | Defective homologous recombination repair (HRR) due to BRCA2 loss of function | 1.026278e-03 | 2.989 |
R-HSA-9675136 | Diseases of DNA Double-Strand Break Repair | 1.026278e-03 | 2.989 |
R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes | 1.159431e-03 | 2.936 |
R-HSA-9673013 | Diseases of Telomere Maintenance | 1.430459e-03 | 2.845 |
R-HSA-9670621 | Defective Inhibition of DNA Recombination at Telomere | 1.430459e-03 | 2.845 |
R-HSA-9006821 | Alternative Lengthening of Telomeres (ALT) | 1.430459e-03 | 2.845 |
R-HSA-9670615 | Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations | 1.430459e-03 | 2.845 |
R-HSA-9670613 | Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations | 1.430459e-03 | 2.845 |
R-HSA-5685939 | HDR through MMEJ (alt-NHEJ) | 1.316727e-03 | 2.881 |
R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange | 1.639146e-03 | 2.785 |
R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SD... | 1.762072e-03 | 2.754 |
R-HSA-1169408 | ISG15 antiviral mechanism | 2.269971e-03 | 2.644 |
R-HSA-9709570 | Impaired BRCA2 binding to RAD51 | 2.960497e-03 | 2.529 |
R-HSA-983231 | Factors involved in megakaryocyte development and platelet production | 3.031580e-03 | 2.518 |
R-HSA-69615 | G1/S DNA Damage Checkpoints | 3.713656e-03 | 2.430 |
R-HSA-156711 | Polo-like kinase mediated events | 3.884235e-03 | 2.411 |
R-HSA-5693538 | Homology Directed Repair | 3.846013e-03 | 2.415 |
R-HSA-9675126 | Diseases of mitotic cell cycle | 4.181876e-03 | 2.379 |
R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates | 4.658718e-03 | 2.332 |
R-HSA-5693537 | Resolution of D-Loop Structures | 5.172976e-03 | 2.286 |
R-HSA-1362277 | Transcription of E2F targets under negative control by DREAM complex | 5.197445e-03 | 2.284 |
R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) | 4.754049e-03 | 2.323 |
R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation | 5.064555e-03 | 2.295 |
R-HSA-162909 | Host Interactions of HIV factors | 5.208387e-03 | 2.283 |
R-HSA-2468052 | Establishment of Sister Chromatid Cohesion | 5.671822e-03 | 2.246 |
R-HSA-9708296 | tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis | 5.519836e-03 | 2.258 |
R-HSA-9013695 | NOTCH4 Intracellular Domain Regulates Transcription | 5.953258e-03 | 2.225 |
R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange | 6.319786e-03 | 2.199 |
R-HSA-350054 | Notch-HLH transcription pathway | 7.676859e-03 | 2.115 |
R-HSA-9013694 | Signaling by NOTCH4 | 7.922537e-03 | 2.101 |
R-HSA-69473 | G2/M DNA damage checkpoint | 7.922537e-03 | 2.101 |
R-HSA-5368598 | Negative regulation of TCF-dependent signaling by DVL-interacting proteins | 8.471650e-03 | 2.072 |
R-HSA-1169410 | Antiviral mechanism by IFN-stimulated genes | 8.512086e-03 | 2.070 |
R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 8.547213e-03 | 2.068 |
R-HSA-168276 | NS1 Mediated Effects on Host Pathways | 9.127699e-03 | 2.040 |
R-HSA-73894 | DNA Repair | 9.297451e-03 | 2.032 |
R-HSA-191859 | snRNP Assembly | 1.090586e-02 | 1.962 |
R-HSA-194441 | Metabolism of non-coding RNA | 1.090586e-02 | 1.962 |
R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at... | 1.090586e-02 | 1.962 |
R-HSA-9820841 | M-decay: degradation of maternal mRNAs by maternally stored factors | 1.081135e-02 | 1.966 |
R-HSA-3214841 | PKMTs methylate histone lysines | 1.081135e-02 | 1.966 |
R-HSA-5633007 | Regulation of TP53 Activity | 1.077331e-02 | 1.968 |
R-HSA-909733 | Interferon alpha/beta signaling | 9.851823e-03 | 2.006 |
R-HSA-9818030 | NFE2L2 regulating tumorigenic genes | 1.171328e-02 | 1.931 |
R-HSA-5693607 | Processing of DNA double-strand break ends | 1.199355e-02 | 1.921 |
R-HSA-9933939 | Formation of the polybromo-BAF (pBAF) complex | 1.363140e-02 | 1.865 |
R-HSA-5617833 | Cilium Assembly | 1.350819e-02 | 1.869 |
R-HSA-8854214 | TBC/RABGAPs | 1.371612e-02 | 1.863 |
R-HSA-2132295 | MHC class II antigen presentation | 1.406394e-02 | 1.852 |
R-HSA-68911 | G2 Phase | 1.602216e-02 | 1.795 |
R-HSA-9933946 | Formation of the embryonic stem cell BAF (esBAF) complex | 1.571763e-02 | 1.804 |
R-HSA-69613 | p53-Independent G1/S DNA Damage Checkpoint | 1.591970e-02 | 1.798 |
R-HSA-69601 | Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A | 1.591970e-02 | 1.798 |
R-HSA-8939247 | RUNX1 regulates transcription of genes involved in interleukin signaling | 1.602216e-02 | 1.795 |
R-HSA-5619107 | Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC... | 1.773749e-02 | 1.751 |
R-HSA-5693606 | DNA Double Strand Break Response | 1.796431e-02 | 1.746 |
R-HSA-5685942 | HDR through Homologous Recombination (HRR) | 1.796431e-02 | 1.746 |
R-HSA-211000 | Gene Silencing by RNA | 1.768431e-02 | 1.752 |
R-HSA-1855196 | IP3 and IP4 transport between cytosol and nucleus | 1.938309e-02 | 1.713 |
R-HSA-1855229 | IP6 and IP7 transport between cytosol and nucleus | 1.938309e-02 | 1.713 |
R-HSA-9833576 | CDH11 homotypic and heterotypic interactions | 2.055796e-02 | 1.687 |
R-HSA-9764302 | Regulation of CDH19 Expression and Function | 2.055796e-02 | 1.687 |
R-HSA-1855170 | IPs transport between nucleus and cytosol | 2.294937e-02 | 1.639 |
R-HSA-159227 | Transport of the SLBP independent Mature mRNA | 2.294937e-02 | 1.639 |
R-HSA-5685938 | HDR through Single Strand Annealing (SSA) | 2.294937e-02 | 1.639 |
R-HSA-8856688 | Golgi-to-ER retrograde transport | 2.185567e-02 | 1.660 |
R-HSA-1538133 | G0 and Early G1 | 2.111999e-02 | 1.675 |
R-HSA-9818749 | Regulation of NFE2L2 gene expression | 2.556103e-02 | 1.592 |
R-HSA-159230 | Transport of the SLBP Dependant Mature mRNA | 2.487224e-02 | 1.604 |
R-HSA-426486 | Small interfering RNA (siRNA) biogenesis | 2.556103e-02 | 1.592 |
R-HSA-170822 | Regulation of Glucokinase by Glucokinase Regulatory Protein | 2.487224e-02 | 1.604 |
R-HSA-8869496 | TFAP2A acts as a transcriptional repressor during retinoic acid induced cell dif... | 2.556103e-02 | 1.592 |
R-HSA-1852241 | Organelle biogenesis and maintenance | 2.635323e-02 | 1.579 |
R-HSA-180746 | Nuclear import of Rev protein | 2.688950e-02 | 1.570 |
R-HSA-179419 | APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of th... | 2.705247e-02 | 1.568 |
R-HSA-3301854 | Nuclear Pore Complex (NPC) Disassembly | 2.900190e-02 | 1.538 |
R-HSA-450408 | AUF1 (hnRNP D0) binds and destabilizes mRNA | 3.121009e-02 | 1.506 |
R-HSA-176409 | APC/C:Cdc20 mediated degradation of mitotic proteins | 3.045005e-02 | 1.516 |
R-HSA-2467813 | Separation of Sister Chromatids | 2.965669e-02 | 1.528 |
R-HSA-913531 | Interferon Signaling | 3.072402e-02 | 1.513 |
R-HSA-2262752 | Cellular responses to stress | 2.825335e-02 | 1.549 |
R-HSA-8953897 | Cellular responses to stimuli | 2.820448e-02 | 1.550 |
R-HSA-9934037 | Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 3.181507e-02 | 1.497 |
R-HSA-176814 | Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins | 3.224487e-02 | 1.492 |
R-HSA-68875 | Mitotic Prophase | 3.248012e-02 | 1.488 |
R-HSA-180910 | Vpr-mediated nuclear import of PICs | 3.351457e-02 | 1.475 |
R-HSA-179409 | APC-Cdc20 mediated degradation of Nek2A | 3.509342e-02 | 1.455 |
R-HSA-159231 | Transport of Mature mRNA Derived from an Intronless Transcript | 3.841381e-02 | 1.416 |
R-HSA-69541 | Stabilization of p53 | 3.841381e-02 | 1.416 |
R-HSA-111453 | BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members | 3.685692e-02 | 1.433 |
R-HSA-8953750 | Transcriptional Regulation by E2F6 | 3.841381e-02 | 1.416 |
R-HSA-165054 | Rev-mediated nuclear export of HIV RNA | 3.591572e-02 | 1.445 |
R-HSA-8878171 | Transcriptional regulation by RUNX1 | 3.993702e-02 | 1.399 |
R-HSA-69242 | S Phase | 4.060187e-02 | 1.391 |
R-HSA-159234 | Transport of Mature mRNAs Derived from Intronless Transcripts | 4.100899e-02 | 1.387 |
R-HSA-177243 | Interactions of Rev with host cellular proteins | 4.100899e-02 | 1.387 |
R-HSA-176033 | Interactions of Vpr with host cellular proteins | 4.100899e-02 | 1.387 |
R-HSA-9793380 | Formation of paraxial mesoderm | 4.219905e-02 | 1.375 |
R-HSA-2151209 | Activation of PPARGC1A (PGC-1alpha) by phosphorylation | 4.969734e-02 | 1.304 |
R-HSA-5140745 | WNT5A-dependent internalization of FZD2, FZD5 and ROR2 | 4.969734e-02 | 1.304 |
R-HSA-9762292 | Regulation of CDH11 function | 4.969734e-02 | 1.304 |
R-HSA-73762 | RNA Polymerase I Transcription Initiation | 4.937676e-02 | 1.306 |
R-HSA-164952 | The role of Nef in HIV-1 replication and disease pathogenesis | 4.592570e-02 | 1.338 |
R-HSA-1500620 | Meiosis | 4.393206e-02 | 1.357 |
R-HSA-6784531 | tRNA processing in the nucleus | 4.438854e-02 | 1.353 |
R-HSA-168271 | Transport of Ribonucleoproteins into the Host Nucleus | 4.370128e-02 | 1.360 |
R-HSA-1474165 | Reproduction | 4.916104e-02 | 1.308 |
R-HSA-381038 | XBP1(S) activates chaperone genes | 4.777799e-02 | 1.321 |
R-HSA-9709275 | Impaired BRCA2 translocation to the nucleus | 5.306743e-02 | 1.275 |
R-HSA-9763198 | Impaired BRCA2 binding to SEM1 (DSS1) | 5.306743e-02 | 1.275 |
R-HSA-5632968 | Defective Mismatch Repair Associated With MSH6 | 5.306743e-02 | 1.275 |
R-HSA-169131 | Inhibition of PKR | 5.306743e-02 | 1.275 |
R-HSA-9932444 | ATP-dependent chromatin remodelers | 5.395727e-02 | 1.268 |
R-HSA-9932451 | SWI/SNF chromatin remodelers | 5.395727e-02 | 1.268 |
R-HSA-3214858 | RMTs methylate histone arginines | 5.543831e-02 | 1.256 |
R-HSA-8876493 | InlA-mediated entry of Listeria monocytogenes into host cells | 5.663519e-02 | 1.247 |
R-HSA-428540 | Activation of RAC1 | 6.388735e-02 | 1.195 |
R-HSA-174143 | APC/C-mediated degradation of cell cycle proteins | 6.711127e-02 | 1.173 |
R-HSA-453276 | Regulation of mitotic cell cycle | 6.711127e-02 | 1.173 |
R-HSA-168333 | NEP/NS2 Interacts with the Cellular Export Machinery | 5.861280e-02 | 1.232 |
R-HSA-9824585 | Regulation of MITF-M-dependent genes involved in pigmentation | 5.861280e-02 | 1.232 |
R-HSA-9022699 | MECP2 regulates neuronal receptors and channels | 5.820848e-02 | 1.235 |
R-HSA-168274 | Export of Viral Ribonucleoproteins from Nucleus | 6.188234e-02 | 1.208 |
R-HSA-69202 | Cyclin E associated events during G1/S transition | 6.431842e-02 | 1.192 |
R-HSA-6807070 | PTEN Regulation | 6.668479e-02 | 1.176 |
R-HSA-381070 | IRE1alpha activates chaperones | 6.053199e-02 | 1.218 |
R-HSA-176034 | Interactions of Tat with host cellular proteins | 7.853789e-02 | 1.105 |
R-HSA-9665230 | Drug resistance in ERBB2 KD mutants | 1.033248e-01 | 0.986 |
R-HSA-9652282 | Drug-mediated inhibition of ERBB2 signaling | 1.033248e-01 | 0.986 |
R-HSA-9665247 | Resistance of ERBB2 KD mutants to osimertinib | 1.033248e-01 | 0.986 |
R-HSA-9665249 | Resistance of ERBB2 KD mutants to afatinib | 1.033248e-01 | 0.986 |
R-HSA-9665251 | Resistance of ERBB2 KD mutants to lapatinib | 1.033248e-01 | 0.986 |
R-HSA-9665245 | Resistance of ERBB2 KD mutants to tesevatinib | 1.033248e-01 | 0.986 |
R-HSA-9665233 | Resistance of ERBB2 KD mutants to trastuzumab | 1.033248e-01 | 0.986 |
R-HSA-9665246 | Resistance of ERBB2 KD mutants to neratinib | 1.033248e-01 | 0.986 |
R-HSA-9665250 | Resistance of ERBB2 KD mutants to AEE788 | 1.033248e-01 | 0.986 |
R-HSA-9665737 | Drug resistance in ERBB2 TMD/JMD mutants | 1.033248e-01 | 0.986 |
R-HSA-9665244 | Resistance of ERBB2 KD mutants to sapitinib | 1.033248e-01 | 0.986 |
R-HSA-9034793 | Activated NTRK3 signals through PLCG1 | 1.274464e-01 | 0.895 |
R-HSA-167021 | PLC-gamma1 signalling | 1.274464e-01 | 0.895 |
R-HSA-9026527 | Activated NTRK2 signals through PLCG1 | 1.509205e-01 | 0.821 |
R-HSA-9818035 | NFE2L2 regulating ER-stress associated genes | 1.509205e-01 | 0.821 |
R-HSA-1251932 | PLCG1 events in ERBB2 signaling | 1.509205e-01 | 0.821 |
R-HSA-9818025 | NFE2L2 regulating TCA cycle genes | 1.737645e-01 | 0.760 |
R-HSA-9818026 | NFE2L2 regulating inflammation associated genes | 1.737645e-01 | 0.760 |
R-HSA-182218 | Nef Mediated CD8 Down-regulation | 1.959953e-01 | 0.708 |
R-HSA-162658 | Golgi Cisternae Pericentriolar Stack Reorganization | 7.924822e-02 | 1.101 |
R-HSA-9933947 | Formation of the non-canonical BAF (ncBAF) complex | 7.924822e-02 | 1.101 |
R-HSA-9661069 | Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) | 7.924822e-02 | 1.101 |
R-HSA-9933937 | Formation of the canonical BAF (cBAF) complex | 8.731605e-02 | 1.059 |
R-HSA-3595172 | Defective CHST3 causes SEDCJD | 2.176293e-01 | 0.662 |
R-HSA-3595174 | Defective CHST14 causes EDS, musculocontractural type | 2.176293e-01 | 0.662 |
R-HSA-8951430 | RUNX3 regulates WNT signaling | 2.386824e-01 | 0.622 |
R-HSA-4411364 | Binding of TCF/LEF:CTNNB1 to target gene promoters | 2.386824e-01 | 0.622 |
R-HSA-111367 | SLBP independent Processing of Histone Pre-mRNAs | 2.386824e-01 | 0.622 |
R-HSA-3595177 | Defective CHSY1 causes TPBS | 2.386824e-01 | 0.622 |
R-HSA-2470946 | Cohesin Loading onto Chromatin | 2.386824e-01 | 0.622 |
R-HSA-141430 | Inactivation of APC/C via direct inhibition of the APC/C complex | 1.128422e-01 | 0.948 |
R-HSA-9912633 | Antigen processing: Ub, ATP-independent proteasomal degradation | 1.128422e-01 | 0.948 |
R-HSA-212718 | EGFR interacts with phospholipase C-gamma | 2.591703e-01 | 0.586 |
R-HSA-196025 | Formation of annular gap junctions | 2.591703e-01 | 0.586 |
R-HSA-416993 | Trafficking of GluR2-containing AMPA receptors | 1.307890e-01 | 0.883 |
R-HSA-9818032 | NFE2L2 regulating MDR associated enzymes | 2.791080e-01 | 0.554 |
R-HSA-201688 | WNT mediated activation of DVL | 2.791080e-01 | 0.554 |
R-HSA-190873 | Gap junction degradation | 2.791080e-01 | 0.554 |
R-HSA-9700645 | ALK mutants bind TKIs | 2.791080e-01 | 0.554 |
R-HSA-9027277 | Erythropoietin activates Phospholipase C gamma (PLCG) | 2.985104e-01 | 0.525 |
R-HSA-112308 | Presynaptic depolarization and calcium channel opening | 3.173917e-01 | 0.498 |
R-HSA-9762114 | GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 | 1.201728e-01 | 0.920 |
R-HSA-174184 | Cdc20:Phospho-APC/C mediated degradation of Cyclin A | 8.345102e-02 | 1.079 |
R-HSA-9818028 | NFE2L2 regulates pentose phosphate pathway genes | 3.357659e-01 | 0.474 |
R-HSA-2022923 | DS-GAG biosynthesis | 3.357659e-01 | 0.474 |
R-HSA-2514853 | Condensation of Prometaphase Chromosomes | 3.357659e-01 | 0.474 |
R-HSA-9931512 | Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters | 3.357659e-01 | 0.474 |
R-HSA-5339716 | Signaling by GSK3beta mutants | 3.357659e-01 | 0.474 |
R-HSA-2197563 | NOTCH2 intracellular domain regulates transcription | 3.536466e-01 | 0.451 |
R-HSA-4839743 | Signaling by CTNNB1 phospho-site mutants | 3.536466e-01 | 0.451 |
R-HSA-5358751 | CTNNB1 S45 mutants aren't phosphorylated | 3.536466e-01 | 0.451 |
R-HSA-5358749 | CTNNB1 S37 mutants aren't phosphorylated | 3.536466e-01 | 0.451 |
R-HSA-5358752 | CTNNB1 T41 mutants aren't phosphorylated | 3.536466e-01 | 0.451 |
R-HSA-5358747 | CTNNB1 S33 mutants aren't phosphorylated | 3.536466e-01 | 0.451 |
R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript | 7.289633e-02 | 1.137 |
R-HSA-5610785 | GLI3 is processed to GLI3R by the proteasome | 1.509808e-01 | 0.821 |
R-HSA-9845323 | Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) | 1.171041e-01 | 0.931 |
R-HSA-72202 | Transport of Mature Transcript to Cytoplasm | 1.021438e-01 | 0.991 |
R-HSA-174084 | Autodegradation of Cdh1 by Cdh1:APC/C | 1.839740e-01 | 0.735 |
R-HSA-177504 | Retrograde neurotrophin signalling | 3.879801e-01 | 0.411 |
R-HSA-5654227 | Phospholipase C-mediated cascade; FGFR3 | 3.879801e-01 | 0.411 |
R-HSA-174154 | APC/C:Cdc20 mediated degradation of Securin | 1.907897e-01 | 0.719 |
R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory si... | 1.167610e-01 | 0.933 |
R-HSA-141424 | Amplification of signal from the kinetochores | 1.167610e-01 | 0.933 |
R-HSA-170670 | Adenylate cyclase inhibitory pathway | 4.044583e-01 | 0.393 |
R-HSA-196299 | Beta-catenin phosphorylation cascade | 4.044583e-01 | 0.393 |
R-HSA-5654228 | Phospholipase C-mediated cascade; FGFR4 | 4.044583e-01 | 0.393 |
R-HSA-174178 | APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins ... | 2.328701e-01 | 0.633 |
R-HSA-72649 | Translation initiation complex formation | 2.400457e-01 | 0.620 |
R-HSA-72702 | Ribosomal scanning and start codon recognition | 2.545030e-01 | 0.594 |
R-HSA-69205 | G1/S-Specific Transcription | 3.274099e-01 | 0.485 |
R-HSA-9937383 | Mitochondrial ribosome-associated quality control | 2.026236e-01 | 0.693 |
R-HSA-9670095 | Inhibition of DNA recombination at telomere | 3.666887e-01 | 0.436 |
R-HSA-927802 | Nonsense-Mediated Decay (NMD) | 2.517536e-01 | 0.599 |
R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 2.517536e-01 | 0.599 |
R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA | 3.013094e-01 | 0.521 |
R-HSA-9759194 | Nuclear events mediated by NFE2L2 | 7.924018e-02 | 1.101 |
R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription | 2.574029e-01 | 0.589 |
R-HSA-9646399 | Aggrephagy | 3.666887e-01 | 0.436 |
R-HSA-380972 | Energy dependent regulation of mTOR by LKB1-AMPK | 2.574029e-01 | 0.589 |
R-HSA-69618 | Mitotic Spindle Checkpoint | 8.586954e-02 | 1.066 |
R-HSA-9755511 | KEAP1-NFE2L2 pathway | 9.458249e-02 | 1.024 |
R-HSA-3134973 | LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | 1.737645e-01 | 0.760 |
R-HSA-5635851 | GLI proteins bind promoters of Hh responsive genes to promote transcription | 1.959953e-01 | 0.708 |
R-HSA-5660668 | CLEC7A/inflammasome pathway | 1.959953e-01 | 0.708 |
R-HSA-164940 | Nef mediated downregulation of MHC class I complex cell surface expression | 2.591703e-01 | 0.586 |
R-HSA-163680 | AMPK inhibits chREBP transcriptional activation activity | 2.791080e-01 | 0.554 |
R-HSA-399719 | Trafficking of AMPA receptors | 2.674430e-01 | 0.573 |
R-HSA-5368286 | Mitochondrial translation initiation | 3.463737e-01 | 0.460 |
R-HSA-8941856 | RUNX3 regulates NOTCH signaling | 7.143199e-02 | 1.146 |
R-HSA-525793 | Myogenesis | 2.173833e-01 | 0.663 |
R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane | 2.273503e-01 | 0.643 |
R-HSA-8856828 | Clathrin-mediated endocytosis | 1.540187e-01 | 0.812 |
R-HSA-8857538 | PTK6 promotes HIF1A stabilization | 2.176293e-01 | 0.662 |
R-HSA-141405 | Inhibition of the proteolytic activity of APC/C required for the onset of anapha... | 1.128422e-01 | 0.948 |
R-HSA-77588 | SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs | 2.591703e-01 | 0.586 |
R-HSA-9687139 | Aberrant regulation of mitotic cell cycle due to RB1 defects | 7.671200e-02 | 1.115 |
R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription | 7.225392e-02 | 1.141 |
R-HSA-5693548 | Sensing of DNA Double Strand Breaks | 3.357659e-01 | 0.474 |
R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes | 3.293686e-01 | 0.482 |
R-HSA-69206 | G1/S Transition | 1.861445e-01 | 0.730 |
R-HSA-9764561 | Regulation of CDH1 Function | 1.038646e-01 | 0.984 |
R-HSA-432720 | Lysosome Vesicle Biogenesis | 3.274099e-01 | 0.485 |
R-HSA-5389840 | Mitochondrial translation elongation | 3.341246e-01 | 0.476 |
R-HSA-2500257 | Resolution of Sister Chromatid Cohesion | 7.924018e-02 | 1.101 |
R-HSA-8937144 | Aryl hydrocarbon receptor signalling | 1.959953e-01 | 0.708 |
R-HSA-167590 | Nef Mediated CD4 Down-regulation | 2.386824e-01 | 0.622 |
R-HSA-164938 | Nef-mediates down modulation of cell surface receptors by recruiting them to cla... | 1.217335e-01 | 0.915 |
R-HSA-9613354 | Lipophagy | 2.791080e-01 | 0.554 |
R-HSA-5221030 | TET1,2,3 and TDG demethylate DNA | 2.985104e-01 | 0.525 |
R-HSA-912446 | Meiotic recombination | 7.962863e-02 | 1.099 |
R-HSA-9615933 | Postmitotic nuclear pore complex (NPC) reformation | 2.173833e-01 | 0.663 |
R-HSA-9937080 | Developmental Lineage of Multipotent Pancreatic Progenitor Cells | 2.774813e-01 | 0.557 |
R-HSA-202433 | Generation of second messenger molecules | 3.666887e-01 | 0.436 |
R-HSA-4641258 | Degradation of DVL | 1.201728e-01 | 0.920 |
R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | 1.171041e-01 | 0.931 |
R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer | 1.171041e-01 | 0.931 |
R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | 1.171041e-01 | 0.931 |
R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants | 1.171041e-01 | 0.931 |
R-HSA-432722 | Golgi Associated Vesicle Biogenesis | 2.328701e-01 | 0.633 |
R-HSA-5250913 | Positive epigenetic regulation of rRNA expression | 3.649477e-01 | 0.438 |
R-HSA-9012852 | Signaling by NOTCH3 | 2.472578e-01 | 0.607 |
R-HSA-9711123 | Cellular response to chemical stress | 1.677898e-01 | 0.775 |
R-HSA-165159 | MTOR signalling | 3.955591e-01 | 0.403 |
R-HSA-4086400 | PCP/CE pathway | 8.850628e-02 | 1.053 |
R-HSA-202424 | Downstream TCR signaling | 2.854680e-01 | 0.544 |
R-HSA-6794361 | Neurexins and neuroligins | 2.257346e-01 | 0.646 |
R-HSA-212165 | Epigenetic regulation of gene expression | 2.304372e-01 | 0.637 |
R-HSA-5632928 | Defective Mismatch Repair Associated With MSH2 | 7.853789e-02 | 1.105 |
R-HSA-8985801 | Regulation of cortical dendrite branching | 1.033248e-01 | 0.986 |
R-HSA-9659787 | Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects | 7.924822e-02 | 1.101 |
R-HSA-69478 | G2/M DNA replication checkpoint | 2.176293e-01 | 0.662 |
R-HSA-193634 | Axonal growth inhibition (RHOA activation) | 2.591703e-01 | 0.586 |
R-HSA-446107 | Type I hemidesmosome assembly | 2.591703e-01 | 0.586 |
R-HSA-1169091 | Activation of NF-kappaB in B cells | 7.962863e-02 | 1.099 |
R-HSA-68884 | Mitotic Telophase/Cytokinesis | 3.357659e-01 | 0.474 |
R-HSA-202670 | ERKs are inactivated | 3.357659e-01 | 0.474 |
R-HSA-9634285 | Constitutive Signaling by Overexpressed ERBB2 | 3.536466e-01 | 0.451 |
R-HSA-418890 | Role of second messengers in netrin-1 signaling | 3.536466e-01 | 0.451 |
R-HSA-8866427 | VLDLR internalisation and degradation | 3.536466e-01 | 0.451 |
R-HSA-380615 | Serotonin clearance from the synaptic cleft | 3.536466e-01 | 0.451 |
R-HSA-6807878 | COPI-mediated anterograde transport | 7.512432e-02 | 1.124 |
R-HSA-1227990 | Signaling by ERBB2 in Cancer | 2.574029e-01 | 0.589 |
R-HSA-211733 | Regulation of activated PAK-2p34 by proteasome mediated degradation | 2.674430e-01 | 0.573 |
R-HSA-418885 | DCC mediated attractive signaling | 4.044583e-01 | 0.393 |
R-HSA-69017 | CDK-mediated phosphorylation and removal of Cdc6 | 2.400457e-01 | 0.620 |
R-HSA-73854 | RNA Polymerase I Promoter Clearance | 1.982473e-01 | 0.703 |
R-HSA-427389 | ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression | 3.666887e-01 | 0.436 |
R-HSA-199992 | trans-Golgi Network Vesicle Budding | 1.765175e-01 | 0.753 |
R-HSA-9665686 | Signaling by ERBB2 TMD/JMD mutants | 1.975803e-01 | 0.704 |
R-HSA-5689603 | UCH proteinases | 1.982473e-01 | 0.703 |
R-HSA-9843745 | Adipogenesis | 3.726365e-01 | 0.429 |
R-HSA-176187 | Activation of ATR in response to replication stress | 9.206746e-02 | 1.036 |
R-HSA-202403 | TCR signaling | 1.194899e-01 | 0.923 |
R-HSA-453279 | Mitotic G1 phase and G1/S transition | 8.316525e-02 | 1.080 |
R-HSA-195253 | Degradation of beta-catenin by the destruction complex | 3.575843e-01 | 0.447 |
R-HSA-6788467 | IL-6-type cytokine receptor ligand interactions | 3.710470e-01 | 0.431 |
R-HSA-176408 | Regulation of APC/C activators between G1/S and early anaphase | 1.263180e-01 | 0.899 |
R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet fun... | 1.556698e-01 | 0.808 |
R-HSA-6794362 | Protein-protein interactions at synapses | 2.497192e-01 | 0.603 |
R-HSA-9692913 | SARS-CoV-1-mediated effects on programmed cell death | 1.509205e-01 | 0.821 |
R-HSA-111448 | Activation of NOXA and translocation to mitochondria | 1.509205e-01 | 0.821 |
R-HSA-3270619 | IRF3-mediated induction of type I IFN | 9.561636e-02 | 1.019 |
R-HSA-139915 | Activation of PUMA and translocation to mitochondria | 2.386824e-01 | 0.622 |
R-HSA-9665348 | Signaling by ERBB2 ECD mutants | 1.307890e-01 | 0.883 |
R-HSA-9766229 | Degradation of CDH1 | 7.225392e-02 | 1.141 |
R-HSA-6804757 | Regulation of TP53 Degradation | 1.143191e-01 | 0.942 |
R-HSA-171007 | p38MAPK events | 4.044583e-01 | 0.393 |
R-HSA-9931269 | AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) | 2.257346e-01 | 0.646 |
R-HSA-8873719 | RAB geranylgeranylation | 2.837452e-01 | 0.547 |
R-HSA-2559580 | Oxidative Stress Induced Senescence | 3.708835e-01 | 0.431 |
R-HSA-8876384 | Listeria monocytogenes entry into host cells | 1.683584e-01 | 0.774 |
R-HSA-5632684 | Hedgehog 'on' state | 1.712180e-01 | 0.766 |
R-HSA-9612973 | Autophagy | 3.389032e-01 | 0.470 |
R-HSA-1362300 | Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL... | 1.041309e-01 | 0.982 |
R-HSA-193697 | p75NTR regulates axonogenesis | 2.791080e-01 | 0.554 |
R-HSA-68882 | Mitotic Anaphase | 1.154238e-01 | 0.938 |
R-HSA-9616222 | Transcriptional regulation of granulopoiesis | 1.263180e-01 | 0.899 |
R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic | 7.512432e-02 | 1.124 |
R-HSA-2555396 | Mitotic Metaphase and Anaphase | 1.177086e-01 | 0.929 |
R-HSA-9909396 | Circadian clock | 2.196231e-01 | 0.658 |
R-HSA-73864 | RNA Polymerase I Transcription | 2.094041e-01 | 0.679 |
R-HSA-3371453 | Regulation of HSF1-mediated heat shock response | 1.978984e-01 | 0.704 |
R-HSA-9843743 | Transcriptional regulation of brown and beige adipocyte differentiation | 3.666887e-01 | 0.436 |
R-HSA-9844594 | Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 | 3.666887e-01 | 0.436 |
R-HSA-9664565 | Signaling by ERBB2 KD Mutants | 2.473688e-01 | 0.607 |
R-HSA-3858494 | Beta-catenin independent WNT signaling | 1.282635e-01 | 0.892 |
R-HSA-1632852 | Macroautophagy | 2.639965e-01 | 0.578 |
R-HSA-6806003 | Regulation of TP53 Expression and Degradation | 1.322006e-01 | 0.879 |
R-HSA-157118 | Signaling by NOTCH | 1.031463e-01 | 0.987 |
R-HSA-5423599 | Diseases of Mismatch Repair (MMR) | 1.274464e-01 | 0.895 |
R-HSA-205025 | NADE modulates death signalling | 1.509205e-01 | 0.821 |
R-HSA-193670 | p75NTR negatively regulates cell cycle via SC1 | 1.509205e-01 | 0.821 |
R-HSA-195399 | VEGF binds to VEGFR leading to receptor dimerization | 1.959953e-01 | 0.708 |
R-HSA-113501 | Inhibition of replication initiation of damaged DNA by RB1/E2F1 | 3.357659e-01 | 0.474 |
R-HSA-9604323 | Negative regulation of NOTCH4 signaling | 1.383664e-01 | 0.859 |
R-HSA-8943724 | Regulation of PTEN gene transcription | 1.171041e-01 | 0.931 |
R-HSA-168325 | Viral Messenger RNA Synthesis | 1.216734e-01 | 0.915 |
R-HSA-72695 | Formation of the ternary complex, and subsequently, the 43S complex | 1.839740e-01 | 0.735 |
R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs | 1.093327e-01 | 0.961 |
R-HSA-9909649 | Regulation of PD-L1(CD274) transcription | 1.456151e-01 | 0.837 |
R-HSA-350562 | Regulation of ornithine decarboxylase (ODC) | 2.774813e-01 | 0.557 |
R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) | 1.659756e-01 | 0.780 |
R-HSA-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity | 2.875107e-01 | 0.541 |
R-HSA-9735869 | SARS-CoV-1 modulates host translation machinery | 3.075163e-01 | 0.512 |
R-HSA-9754678 | SARS-CoV-2 modulates host translation machinery | 2.400457e-01 | 0.620 |
R-HSA-8854050 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis | 3.174800e-01 | 0.498 |
R-HSA-174113 | SCF-beta-TrCP mediated degradation of Emi1 | 3.174800e-01 | 0.498 |
R-HSA-72662 | Activation of the mRNA upon binding of the cap-binding complex and eIFs, and sub... | 2.690785e-01 | 0.570 |
R-HSA-9932298 | Degradation of CRY and PER proteins | 3.859997e-01 | 0.413 |
R-HSA-5610780 | Degradation of GLI1 by the proteasome | 3.859997e-01 | 0.413 |
R-HSA-5607764 | CLEC7A (Dectin-1) signaling | 3.341246e-01 | 0.476 |
R-HSA-69563 | p53-Dependent G1 DNA Damage Response | 7.225392e-02 | 1.141 |
R-HSA-69580 | p53-Dependent G1/S DNA damage checkpoint | 7.225392e-02 | 1.141 |
R-HSA-9824272 | Somitogenesis | 1.772253e-01 | 0.751 |
R-HSA-8953854 | Metabolism of RNA | 3.137846e-01 | 0.503 |
R-HSA-8948751 | Regulation of PTEN stability and activity | 8.736190e-02 | 1.059 |
R-HSA-2644603 | Signaling by NOTCH1 in Cancer | 1.171041e-01 | 0.931 |
R-HSA-1980143 | Signaling by NOTCH1 | 1.982473e-01 | 0.703 |
R-HSA-69052 | Switching of origins to a post-replicative state | 3.796304e-01 | 0.421 |
R-HSA-198753 | ERK/MAPK targets | 1.587916e-01 | 0.799 |
R-HSA-9929356 | GSK3B-mediated proteasomal degradation of PD-L1(CD274) | 1.322006e-01 | 0.879 |
R-HSA-9759475 | Regulation of CDH11 Expression and Function | 2.473688e-01 | 0.607 |
R-HSA-8863795 | Downregulation of ERBB2 signaling | 2.574029e-01 | 0.589 |
R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic | 2.472578e-01 | 0.607 |
R-HSA-1236978 | Cross-presentation of soluble exogenous antigens (endosomes) | 3.569447e-01 | 0.447 |
R-HSA-5655302 | Signaling by FGFR1 in disease | 3.859997e-01 | 0.413 |
R-HSA-168273 | Influenza Viral RNA Transcription and Replication | 3.341318e-01 | 0.476 |
R-HSA-9764260 | Regulation of Expression and Function of Type II Classical Cadherins | 2.875107e-01 | 0.541 |
R-HSA-199991 | Membrane Trafficking | 1.071742e-01 | 0.970 |
R-HSA-2559585 | Oncogene Induced Senescence | 1.085776e-01 | 0.964 |
R-HSA-1227986 | Signaling by ERBB2 | 1.171041e-01 | 0.931 |
R-HSA-844455 | The NLRP1 inflammasome | 1.274464e-01 | 0.895 |
R-HSA-9707587 | Regulation of HMOX1 expression and activity | 1.509205e-01 | 0.821 |
R-HSA-194313 | VEGF ligand-receptor interactions | 1.959953e-01 | 0.708 |
R-HSA-427652 | Sodium-coupled phosphate cotransporters | 1.959953e-01 | 0.708 |
R-HSA-210744 | Regulation of gene expression in late stage (branching morphogenesis) pancreatic... | 1.041309e-01 | 0.982 |
R-HSA-180024 | DARPP-32 events | 7.186789e-02 | 1.143 |
R-HSA-186763 | Downstream signal transduction | 8.169576e-02 | 1.088 |
R-HSA-9682385 | FLT3 signaling in disease | 1.143191e-01 | 0.942 |
R-HSA-9796292 | Formation of axial mesoderm | 3.710470e-01 | 0.431 |
R-HSA-180585 | Vif-mediated degradation of APOBEC3G | 3.274099e-01 | 0.485 |
R-HSA-4641257 | Degradation of AXIN | 3.373007e-01 | 0.472 |
R-HSA-1834949 | Cytosolic sensors of pathogen-associated DNA | 3.575843e-01 | 0.447 |
R-HSA-9759476 | Regulation of Homotypic Cell-Cell Adhesion | 3.712832e-01 | 0.430 |
R-HSA-162906 | HIV Infection | 1.419197e-01 | 0.848 |
R-HSA-3214842 | HDMs demethylate histones | 2.074566e-01 | 0.683 |
R-HSA-8878159 | Transcriptional regulation by RUNX3 | 1.748782e-01 | 0.757 |
R-HSA-8853884 | Transcriptional Regulation by VENTX | 3.763750e-01 | 0.424 |
R-HSA-199977 | ER to Golgi Anterograde Transport | 2.963231e-01 | 0.528 |
R-HSA-9764274 | Regulation of Expression and Function of Type I Classical Cadherins | 2.721133e-01 | 0.565 |
R-HSA-9764265 | Regulation of CDH1 Expression and Function | 2.721133e-01 | 0.565 |
R-HSA-9758890 | Transport of RCbl within the body | 3.173917e-01 | 0.498 |
R-HSA-983189 | Kinesins | 1.171041e-01 | 0.931 |
R-HSA-164944 | Nef and signal transduction | 2.176293e-01 | 0.662 |
R-HSA-1483148 | Synthesis of PG | 1.128422e-01 | 0.948 |
R-HSA-450341 | Activation of the AP-1 family of transcription factors | 2.791080e-01 | 0.554 |
R-HSA-69273 | Cyclin A/B1/B2 associated events during G2/M transition | 9.206746e-02 | 1.036 |
R-HSA-110362 | POLB-Dependent Long Patch Base Excision Repair | 3.357659e-01 | 0.474 |
R-HSA-9931509 | Expression of BMAL (ARNTL), CLOCK, and NPAS2 | 1.322006e-01 | 0.879 |
R-HSA-6804759 | Regulation of TP53 Activity through Association with Co-factors | 3.710470e-01 | 0.431 |
R-HSA-5655291 | Signaling by FGFR4 in disease | 3.879801e-01 | 0.411 |
R-HSA-174362 | Transport and metabolism of PAPS | 4.044583e-01 | 0.393 |
R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not kno... | 2.875107e-01 | 0.541 |
R-HSA-5578749 | Transcriptional regulation by small RNAs | 1.765175e-01 | 0.753 |
R-HSA-180534 | Vpu mediated degradation of CD4 | 2.975245e-01 | 0.526 |
R-HSA-75815 | Ubiquitin-dependent degradation of Cyclin D | 3.075163e-01 | 0.512 |
R-HSA-349425 | Autodegradation of the E3 ubiquitin ligase COP1 | 3.075163e-01 | 0.512 |
R-HSA-169911 | Regulation of Apoptosis | 3.174800e-01 | 0.498 |
R-HSA-3214847 | HATs acetylate histones | 1.839606e-01 | 0.735 |
R-HSA-8852276 | The role of GTSE1 in G2/M progression after G2 checkpoint | 2.984773e-01 | 0.525 |
R-HSA-9909615 | Regulation of PD-L1(CD274) Post-translational modification | 2.556134e-01 | 0.592 |
R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation | 2.366893e-01 | 0.626 |
R-HSA-5610783 | Degradation of GLI2 by the proteasome | 3.859997e-01 | 0.413 |
R-HSA-9909648 | Regulation of PD-L1(CD274) expression | 1.546616e-01 | 0.811 |
R-HSA-74160 | Gene expression (Transcription) | 7.123788e-02 | 1.147 |
R-HSA-1266695 | Interleukin-7 signaling | 2.074566e-01 | 0.683 |
R-HSA-450531 | Regulation of mRNA stability by proteins that bind AU-rich elements | 6.997066e-02 | 1.155 |
R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers | 2.159349e-01 | 0.666 |
R-HSA-4420097 | VEGFA-VEGFR2 Pathway | 1.438187e-01 | 0.842 |
R-HSA-450282 | MAPK targets/ Nuclear events mediated by MAP kinases | 2.473688e-01 | 0.607 |
R-HSA-111885 | Opioid Signalling | 2.073865e-01 | 0.683 |
R-HSA-194138 | Signaling by VEGF | 9.155918e-02 | 1.038 |
R-HSA-5688426 | Deubiquitination | 3.370269e-01 | 0.472 |
R-HSA-389948 | Co-inhibition by PD-1 | 2.509811e-01 | 0.600 |
R-HSA-9842860 | Regulation of endogenous retroelements | 3.708835e-01 | 0.431 |
R-HSA-3371556 | Cellular response to heat stress | 3.087327e-01 | 0.510 |
R-HSA-1606341 | IRF3 mediated activation of type 1 IFN | 1.737645e-01 | 0.760 |
R-HSA-9627069 | Regulation of the apoptosome activity | 2.985104e-01 | 0.525 |
R-HSA-1855204 | Synthesis of IP3 and IP4 in the cytosol | 2.875107e-01 | 0.541 |
R-HSA-5362768 | Hh mutants are degraded by ERAD | 3.763750e-01 | 0.424 |
R-HSA-9929491 | SPOP-mediated proteasomal degradation of PD-L1(CD274) | 3.763750e-01 | 0.424 |
R-HSA-69656 | Cyclin A:Cdk2-associated events at S phase entry | 6.997066e-02 | 1.155 |
R-HSA-1483249 | Inositol phosphate metabolism | 1.262183e-01 | 0.899 |
R-HSA-373753 | Nephrin family interactions | 1.493322e-01 | 0.826 |
R-HSA-2980766 | Nuclear Envelope Breakdown | 1.038646e-01 | 0.984 |
R-HSA-9659379 | Sensory processing of sound | 2.150486e-01 | 0.667 |
R-HSA-9816359 | Maternal to zygotic transition (MZT) | 1.741435e-01 | 0.759 |
R-HSA-9733709 | Cardiogenesis | 2.875107e-01 | 0.541 |
R-HSA-2892245 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation | 2.386824e-01 | 0.622 |
R-HSA-9702518 | STAT5 activation downstream of FLT3 ITD mutants | 1.128422e-01 | 0.948 |
R-HSA-9820960 | Respiratory syncytial virus (RSV) attachment and entry | 8.169576e-02 | 1.088 |
R-HSA-210990 | PECAM1 interactions | 3.173917e-01 | 0.498 |
R-HSA-9841251 | Mitochondrial unfolded protein response (UPRmt) | 2.273503e-01 | 0.643 |
R-HSA-9007101 | Rab regulation of trafficking | 7.012326e-02 | 1.154 |
R-HSA-9662360 | Sensory processing of sound by inner hair cells of the cochlea | 1.556698e-01 | 0.808 |
R-HSA-9022692 | Regulation of MECP2 expression and activity | 2.875107e-01 | 0.541 |
R-HSA-3700989 | Transcriptional Regulation by TP53 | 1.203587e-01 | 0.920 |
R-HSA-73857 | RNA Polymerase II Transcription | 3.294869e-01 | 0.482 |
R-HSA-168255 | Influenza Infection | 2.974152e-01 | 0.527 |
R-HSA-9824594 | Regulation of MITF-M-dependent genes involved in apoptosis | 1.587916e-01 | 0.799 |
R-HSA-8983711 | OAS antiviral response | 3.536466e-01 | 0.451 |
R-HSA-186797 | Signaling by PDGF | 2.984773e-01 | 0.525 |
R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea | 2.545030e-01 | 0.594 |
R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic | 1.482942e-01 | 0.829 |
R-HSA-212436 | Generic Transcription Pathway | 2.757006e-01 | 0.560 |
R-HSA-9707616 | Heme signaling | 1.263180e-01 | 0.899 |
R-HSA-193704 | p75 NTR receptor-mediated signalling | 3.525020e-01 | 0.453 |
R-HSA-9764725 | Negative Regulation of CDH1 Gene Transcription | 2.837452e-01 | 0.547 |
R-HSA-6804116 | TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest | 1.041309e-01 | 0.982 |
R-HSA-109606 | Intrinsic Pathway for Apoptosis | 9.961279e-02 | 1.002 |
R-HSA-9933387 | RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression | 2.574029e-01 | 0.589 |
R-HSA-8876725 | Protein methylation | 4.044583e-01 | 0.393 |
R-HSA-168638 | NOD1/2 Signaling Pathway | 3.075163e-01 | 0.512 |
R-HSA-8941858 | Regulation of RUNX3 expression and activity | 3.666887e-01 | 0.436 |
R-HSA-5676590 | NIK-->noncanonical NF-kB signaling | 3.763750e-01 | 0.424 |
R-HSA-1912408 | Pre-NOTCH Transcription and Translation | 2.915026e-01 | 0.535 |
R-HSA-9856651 | MITF-M-dependent gene expression | 3.104138e-01 | 0.508 |
R-HSA-9827857 | Specification of primordial germ cells | 1.217335e-01 | 0.915 |
R-HSA-1834941 | STING mediated induction of host immune responses | 1.399934e-01 | 0.854 |
R-HSA-72306 | tRNA processing | 2.596847e-01 | 0.586 |
R-HSA-8986944 | Transcriptional Regulation by MECP2 | 2.915026e-01 | 0.535 |
R-HSA-351906 | Apoptotic cleavage of cell adhesion proteins | 2.591703e-01 | 0.586 |
R-HSA-264870 | Caspase-mediated cleavage of cytoskeletal proteins | 2.791080e-01 | 0.554 |
R-HSA-111458 | Formation of apoptosome | 2.985104e-01 | 0.525 |
R-HSA-9700206 | Signaling by ALK in cancer | 2.267915e-01 | 0.644 |
R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs | 1.167610e-01 | 0.933 |
R-HSA-9725370 | Signaling by ALK fusions and activated point mutants | 2.267915e-01 | 0.644 |
R-HSA-1280215 | Cytokine Signaling in Immune system | 3.007096e-01 | 0.522 |
R-HSA-1295596 | Spry regulation of FGF signaling | 4.044583e-01 | 0.393 |
R-HSA-9701898 | STAT3 nuclear events downstream of ALK signaling | 4.044583e-01 | 0.393 |
R-HSA-9764560 | Regulation of CDH1 Gene Transcription | 3.575843e-01 | 0.447 |
R-HSA-70171 | Glycolysis | 3.586307e-01 | 0.445 |
R-HSA-9703648 | Signaling by FLT3 ITD and TKD mutants | 1.975803e-01 | 0.704 |
R-HSA-111461 | Cytochrome c-mediated apoptotic response | 3.357659e-01 | 0.474 |
R-HSA-9008059 | Interleukin-37 signaling | 2.574029e-01 | 0.589 |
R-HSA-201556 | Signaling by ALK | 3.569447e-01 | 0.447 |
R-HSA-109581 | Apoptosis | 1.226720e-01 | 0.911 |
R-HSA-8864260 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | 1.705475e-01 | 0.768 |
R-HSA-5218920 | VEGFR2 mediated vascular permeability | 3.763750e-01 | 0.424 |
R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signali... | 3.132501e-01 | 0.504 |
R-HSA-5357801 | Programmed Cell Death | 1.654782e-01 | 0.781 |
R-HSA-381119 | Unfolded Protein Response (UPR) | 1.376521e-01 | 0.861 |
R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulati... | 1.406865e-01 | 0.852 |
R-HSA-1368108 | BMAL1:CLOCK,NPAS2 activates circadian expression | 3.075163e-01 | 0.512 |
R-HSA-111465 | Apoptotic cleavage of cellular proteins | 2.774813e-01 | 0.557 |
R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of lig... | 3.428254e-01 | 0.465 |
R-HSA-9020591 | Interleukin-12 signaling | 1.982473e-01 | 0.703 |
R-HSA-447115 | Interleukin-12 family signaling | 2.674842e-01 | 0.573 |
R-HSA-5387390 | Hh mutants abrogate ligand secretion | 4.050496e-01 | 0.392 |
R-HSA-5654743 | Signaling by FGFR4 | 4.050496e-01 | 0.392 |
R-HSA-9820952 | Respiratory Syncytial Virus Infection Pathway | 4.100361e-01 | 0.387 |
R-HSA-5653656 | Vesicle-mediated transport | 4.108476e-01 | 0.386 |
R-HSA-9907900 | Proteasome assembly | 4.144682e-01 | 0.383 |
R-HSA-373752 | Netrin-1 signaling | 4.144682e-01 | 0.383 |
R-HSA-187577 | SCF(Skp2)-mediated degradation of p27/p21 | 4.144682e-01 | 0.383 |
R-HSA-69236 | G1 Phase | 4.144682e-01 | 0.383 |
R-HSA-69231 | Cyclin D associated events in G1 | 4.144682e-01 | 0.383 |
R-HSA-5368287 | Mitochondrial translation | 4.153600e-01 | 0.382 |
R-HSA-5419276 | Mitochondrial translation termination | 4.196234e-01 | 0.377 |
R-HSA-69002 | DNA Replication Pre-Initiation | 4.196234e-01 | 0.377 |
R-HSA-176412 | Phosphorylation of the APC/C | 4.204938e-01 | 0.376 |
R-HSA-9687136 | Aberrant regulation of mitotic exit in cancer due to RB1 defects | 4.204938e-01 | 0.376 |
R-HSA-9673324 | WNT5:FZD7-mediated leishmania damping | 4.204938e-01 | 0.376 |
R-HSA-9664420 | Killing mechanisms | 4.204938e-01 | 0.376 |
R-HSA-5099900 | WNT5A-dependent internalization of FZD4 | 4.204938e-01 | 0.376 |
R-HSA-434316 | Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion | 4.204938e-01 | 0.376 |
R-HSA-450604 | KSRP (KHSRP) binds and destabilizes mRNA | 4.204938e-01 | 0.376 |
R-HSA-388844 | Receptor-type tyrosine-protein phosphatases | 4.204938e-01 | 0.376 |
R-HSA-6803207 | TP53 Regulates Transcription of Caspase Activators and Caspases | 4.204938e-01 | 0.376 |
R-HSA-4608870 | Asymmetric localization of PCP proteins | 4.238118e-01 | 0.373 |
R-HSA-5678895 | Defective CFTR causes cystic fibrosis | 4.238118e-01 | 0.373 |
R-HSA-5607761 | Dectin-1 mediated noncanonical NF-kB signaling | 4.238118e-01 | 0.373 |
R-HSA-5654741 | Signaling by FGFR3 | 4.238118e-01 | 0.373 |
R-HSA-1489509 | DAG and IP3 signaling | 4.238118e-01 | 0.373 |
R-HSA-5689880 | Ub-specific processing proteases | 4.253227e-01 | 0.371 |
R-HSA-9833482 | PKR-mediated signaling | 4.303301e-01 | 0.366 |
R-HSA-72165 | mRNA Splicing - Minor Pathway | 4.330776e-01 | 0.363 |
R-HSA-2299718 | Condensation of Prophase Chromosomes | 4.330776e-01 | 0.363 |
R-HSA-9861718 | Regulation of pyruvate metabolism | 4.330776e-01 | 0.363 |
R-HSA-75153 | Apoptotic execution phase | 4.330776e-01 | 0.363 |
R-HSA-1500931 | Cell-Cell communication | 4.338854e-01 | 0.363 |
R-HSA-3560783 | Defective B4GALT7 causes EDS, progeroid type | 4.360985e-01 | 0.360 |
R-HSA-4420332 | Defective B3GALT6 causes EDSP2 and SEMDJL1 | 4.360985e-01 | 0.360 |
R-HSA-9931521 | The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CL... | 4.360985e-01 | 0.360 |
R-HSA-5576893 | Phase 2 - plateau phase | 4.360985e-01 | 0.360 |
R-HSA-3134975 | Regulation of innate immune responses to cytosolic DNA | 4.360985e-01 | 0.360 |
R-HSA-399997 | Acetylcholine regulates insulin secretion | 4.360985e-01 | 0.360 |
R-HSA-6787450 | tRNA modification in the mitochondrion | 4.360985e-01 | 0.360 |
R-HSA-8866910 | TFAP2 (AP-2) family regulates transcription of growth factors and their receptor... | 4.360985e-01 | 0.360 |
R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation | 4.402618e-01 | 0.356 |
R-HSA-162599 | Late Phase of HIV Life Cycle | 4.418496e-01 | 0.355 |
R-HSA-1912422 | Pre-NOTCH Expression and Processing | 4.436831e-01 | 0.353 |
R-HSA-9855142 | Cellular responses to mechanical stimuli | 4.496527e-01 | 0.347 |
R-HSA-5654219 | Phospholipase C-mediated cascade: FGFR1 | 4.512839e-01 | 0.346 |
R-HSA-3560801 | Defective B3GAT3 causes JDSSDHD | 4.512839e-01 | 0.346 |
R-HSA-5358565 | Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | 4.512839e-01 | 0.346 |
R-HSA-176407 | Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase | 4.512839e-01 | 0.346 |
R-HSA-2028269 | Signaling by Hippo | 4.512839e-01 | 0.346 |
R-HSA-5637810 | Constitutive Signaling by EGFRvIII | 4.512839e-01 | 0.346 |
R-HSA-5637812 | Signaling by EGFRvIII in Cancer | 4.512839e-01 | 0.346 |
R-HSA-9909505 | Modulation of host responses by IFN-stimulated genes | 4.512839e-01 | 0.346 |
R-HSA-9707564 | Cytoprotection by HMOX1 | 4.516139e-01 | 0.345 |
R-HSA-2559583 | Cellular Senescence | 4.586634e-01 | 0.339 |
R-HSA-5628897 | TP53 Regulates Metabolic Genes | 4.615296e-01 | 0.336 |
R-HSA-418217 | G beta:gamma signalling through PLC beta | 4.660613e-01 | 0.332 |
R-HSA-3928664 | Ephrin signaling | 4.660613e-01 | 0.332 |
R-HSA-1839117 | Signaling by cytosolic FGFR1 fusion mutants | 4.660613e-01 | 0.332 |
R-HSA-500657 | Presynaptic function of Kainate receptors | 4.660613e-01 | 0.332 |
R-HSA-9613829 | Chaperone Mediated Autophagy | 4.660613e-01 | 0.332 |
R-HSA-5358508 | Mismatch Repair | 4.660613e-01 | 0.332 |
R-HSA-8849932 | Synaptic adhesion-like molecules | 4.660613e-01 | 0.332 |
R-HSA-1606322 | ZBP1(DAI) mediated induction of type I IFNs | 4.660613e-01 | 0.332 |
R-HSA-6804760 | Regulation of TP53 Activity through Methylation | 4.660613e-01 | 0.332 |
R-HSA-196791 | Vitamin D (calciferol) metabolism | 4.660613e-01 | 0.332 |
R-HSA-111471 | Apoptotic factor-mediated response | 4.660613e-01 | 0.332 |
R-HSA-2029485 | Role of phospholipids in phagocytosis | 4.674349e-01 | 0.330 |
R-HSA-5658442 | Regulation of RAS by GAPs | 4.693145e-01 | 0.329 |
R-HSA-418990 | Adherens junctions interactions | 4.722143e-01 | 0.326 |
R-HSA-201681 | TCF dependent signaling in response to WNT | 4.728153e-01 | 0.325 |
R-HSA-1234176 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | 4.781565e-01 | 0.320 |
R-HSA-5358346 | Hedgehog ligand biogenesis | 4.781565e-01 | 0.320 |
R-HSA-9758941 | Gastrulation | 4.784227e-01 | 0.320 |
R-HSA-1592230 | Mitochondrial biogenesis | 4.791743e-01 | 0.320 |
R-HSA-70326 | Glucose metabolism | 4.791743e-01 | 0.320 |
R-HSA-388841 | Regulation of T cell activation by CD28 family | 4.795820e-01 | 0.319 |
R-HSA-174048 | APC/C:Cdc20 mediated degradation of Cyclin B | 4.804416e-01 | 0.318 |
R-HSA-9754189 | Germ layer formation at gastrulation | 4.804416e-01 | 0.318 |
R-HSA-110320 | Translesion Synthesis by POLH | 4.804416e-01 | 0.318 |
R-HSA-9834899 | Specification of the neural plate border | 4.804416e-01 | 0.318 |
R-HSA-113510 | E2F mediated regulation of DNA replication | 4.804416e-01 | 0.318 |
R-HSA-9856532 | Mechanical load activates signaling by PIEZO1 and integrins in osteocytes | 4.804416e-01 | 0.318 |
R-HSA-727802 | Transport of nucleotide sugars | 4.804416e-01 | 0.318 |
R-HSA-9679191 | Potential therapeutics for SARS | 4.835853e-01 | 0.316 |
R-HSA-8951664 | Neddylation | 4.851643e-01 | 0.314 |
R-HSA-112382 | Formation of RNA Pol II elongation complex | 4.869081e-01 | 0.313 |
R-HSA-8866654 | E3 ubiquitin ligases ubiquitinate target proteins | 4.869081e-01 | 0.313 |
R-HSA-68949 | Orc1 removal from chromatin | 4.869081e-01 | 0.313 |
R-HSA-9663891 | Selective autophagy | 4.931459e-01 | 0.307 |
R-HSA-5654221 | Phospholipase C-mediated cascade; FGFR2 | 4.944355e-01 | 0.306 |
R-HSA-5620922 | BBSome-mediated cargo-targeting to cilium | 4.944355e-01 | 0.306 |
R-HSA-9823730 | Formation of definitive endoderm | 4.944355e-01 | 0.306 |
R-HSA-9639288 | Amino acids regulate mTORC1 | 4.955676e-01 | 0.305 |
R-HSA-75955 | RNA Polymerase II Transcription Elongation | 4.955676e-01 | 0.305 |
R-HSA-1221632 | Meiotic synapsis | 4.955676e-01 | 0.305 |
R-HSA-195721 | Signaling by WNT | 5.009570e-01 | 0.300 |
R-HSA-392170 | ADP signalling through P2Y purinoceptor 12 | 5.080533e-01 | 0.294 |
R-HSA-167044 | Signalling to RAS | 5.080533e-01 | 0.294 |
R-HSA-5637815 | Signaling by Ligand-Responsive EGFR Variants in Cancer | 5.080533e-01 | 0.294 |
R-HSA-1236382 | Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 5.080533e-01 | 0.294 |
R-HSA-9636383 | Prevention of phagosomal-lysosomal fusion | 5.080533e-01 | 0.294 |
R-HSA-3214815 | HDACs deacetylate histones | 5.126052e-01 | 0.290 |
R-HSA-418597 | G alpha (z) signalling events | 5.126052e-01 | 0.290 |
R-HSA-9705683 | SARS-CoV-2-host interactions | 5.150096e-01 | 0.288 |
R-HSA-162587 | HIV Life Cycle | 5.191929e-01 | 0.285 |
R-HSA-5654736 | Signaling by FGFR1 | 5.209808e-01 | 0.283 |
R-HSA-177929 | Signaling by EGFR | 5.209808e-01 | 0.283 |
R-HSA-2022870 | CS-GAG biosynthesis | 5.213051e-01 | 0.283 |
R-HSA-438066 | Unblocking of NMDA receptors, glutamate binding and activation | 5.213051e-01 | 0.283 |
R-HSA-76066 | RNA Polymerase III Transcription Initiation From Type 2 Promoter | 5.213051e-01 | 0.283 |
R-HSA-450302 | activated TAK1 mediates p38 MAPK activation | 5.213051e-01 | 0.283 |
R-HSA-9617324 | Negative regulation of NMDA receptor-mediated neuronal transmission | 5.213051e-01 | 0.283 |
R-HSA-9034015 | Signaling by NTRK3 (TRKC) | 5.213051e-01 | 0.283 |
R-HSA-9825892 | Regulation of MITF-M-dependent genes involved in cell cycle and proliferation | 5.213051e-01 | 0.283 |
R-HSA-8949215 | Mitochondrial calcium ion transport | 5.213051e-01 | 0.283 |
R-HSA-9711097 | Cellular response to starvation | 5.241964e-01 | 0.281 |
R-HSA-983705 | Signaling by the B Cell Receptor (BCR) | 5.241964e-01 | 0.281 |
R-HSA-9006925 | Intracellular signaling by second messengers | 5.268101e-01 | 0.278 |
R-HSA-1483166 | Synthesis of PA | 5.292597e-01 | 0.276 |
R-HSA-6791312 | TP53 Regulates Transcription of Cell Cycle Genes | 5.292597e-01 | 0.276 |
R-HSA-9609690 | HCMV Early Events | 5.327484e-01 | 0.273 |
R-HSA-68867 | Assembly of the pre-replicative complex | 5.330645e-01 | 0.273 |
R-HSA-76071 | RNA Polymerase III Transcription Initiation From Type 3 Promoter | 5.342007e-01 | 0.272 |
R-HSA-76061 | RNA Polymerase III Transcription Initiation From Type 1 Promoter | 5.342007e-01 | 0.272 |
R-HSA-166208 | mTORC1-mediated signalling | 5.342007e-01 | 0.272 |
R-HSA-8964038 | LDL clearance | 5.342007e-01 | 0.272 |
R-HSA-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus | 5.342007e-01 | 0.272 |
R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex | 5.374410e-01 | 0.270 |
R-HSA-186712 | Regulation of beta-cell development | 5.455239e-01 | 0.263 |
R-HSA-400451 | Free fatty acids regulate insulin secretion | 5.467497e-01 | 0.262 |
R-HSA-200425 | Carnitine shuttle | 5.467497e-01 | 0.262 |
R-HSA-187037 | Signaling by NTRK1 (TRKA) | 5.472487e-01 | 0.262 |
R-HSA-72689 | Formation of a pool of free 40S subunits | 5.523487e-01 | 0.258 |
R-HSA-5362517 | Signaling by Retinoic Acid | 5.535078e-01 | 0.257 |
R-HSA-351202 | Metabolism of polyamines | 5.535078e-01 | 0.257 |
R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation | 5.586712e-01 | 0.253 |
R-HSA-75067 | Processing of Capped Intronless Pre-mRNA | 5.589614e-01 | 0.253 |
R-HSA-429947 | Deadenylation of mRNA | 5.589614e-01 | 0.253 |
R-HSA-6783589 | Interleukin-6 family signaling | 5.589614e-01 | 0.253 |
R-HSA-9865881 | Complex III assembly | 5.589614e-01 | 0.253 |
R-HSA-8862803 | Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's dis... | 5.589614e-01 | 0.253 |
R-HSA-8863678 | Neurodegenerative Diseases | 5.589614e-01 | 0.253 |
R-HSA-948021 | Transport to the Golgi and subsequent modification | 5.594455e-01 | 0.252 |
R-HSA-73856 | RNA Polymerase II Transcription Termination | 5.613921e-01 | 0.251 |
R-HSA-450294 | MAP kinase activation | 5.613921e-01 | 0.251 |
R-HSA-8939902 | Regulation of RUNX2 expression and activity | 5.613921e-01 | 0.251 |
R-HSA-376176 | Signaling by ROBO receptors | 5.638259e-01 | 0.249 |
R-HSA-157579 | Telomere Maintenance | 5.649399e-01 | 0.248 |
R-HSA-446728 | Cell junction organization | 5.656638e-01 | 0.247 |
R-HSA-203927 | MicroRNA (miRNA) biogenesis | 5.708448e-01 | 0.243 |
R-HSA-5218921 | VEGFR2 mediated cell proliferation | 5.708448e-01 | 0.243 |
R-HSA-9620244 | Long-term potentiation | 5.708448e-01 | 0.243 |
R-HSA-9830364 | Formation of the nephric duct | 5.708448e-01 | 0.243 |
R-HSA-5601884 | PIWI-interacting RNA (piRNA) biogenesis | 5.708448e-01 | 0.243 |
R-HSA-2426168 | Activation of gene expression by SREBF (SREBP) | 5.768605e-01 | 0.239 |
R-HSA-9931510 | Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock gene... | 5.824087e-01 | 0.235 |
R-HSA-9703465 | Signaling by FLT3 fusion proteins | 5.824087e-01 | 0.235 |
R-HSA-400042 | Adrenaline,noradrenaline inhibits insulin secretion | 5.824087e-01 | 0.235 |
R-HSA-5689901 | Metalloprotease DUBs | 5.824087e-01 | 0.235 |
R-HSA-1643713 | Signaling by EGFR in Cancer | 5.824087e-01 | 0.235 |
R-HSA-3295583 | TRP channels | 5.824087e-01 | 0.235 |
R-HSA-110373 | Resolution of AP sites via the multiple-nucleotide patch replacement pathway | 5.824087e-01 | 0.235 |
R-HSA-9637687 | Suppression of phagosomal maturation | 5.824087e-01 | 0.235 |
R-HSA-5610787 | Hedgehog 'off' state | 5.834162e-01 | 0.234 |
R-HSA-6802952 | Signaling by BRAF and RAF1 fusions | 5.919268e-01 | 0.228 |
R-HSA-1234174 | Cellular response to hypoxia | 5.919268e-01 | 0.228 |
R-HSA-167243 | Tat-mediated HIV elongation arrest and recovery | 5.936617e-01 | 0.226 |
R-HSA-167238 | Pausing and recovery of Tat-mediated HIV elongation | 5.936617e-01 | 0.226 |
R-HSA-201451 | Signaling by BMP | 5.936617e-01 | 0.226 |
R-HSA-5655332 | Signaling by FGFR3 in disease | 5.936617e-01 | 0.226 |
R-HSA-174414 | Processive synthesis on the C-strand of the telomere | 5.936617e-01 | 0.226 |
R-HSA-9006115 | Signaling by NTRK2 (TRKB) | 5.936617e-01 | 0.226 |
R-HSA-9734009 | Defective Intrinsic Pathway for Apoptosis | 5.936617e-01 | 0.226 |
R-HSA-9018519 | Estrogen-dependent gene expression | 6.002647e-01 | 0.222 |
R-HSA-167287 | HIV elongation arrest and recovery | 6.046121e-01 | 0.219 |
R-HSA-9619483 | Activation of AMPK downstream of NMDARs | 6.046121e-01 | 0.219 |
R-HSA-167290 | Pausing and recovery of HIV elongation | 6.046121e-01 | 0.219 |
R-HSA-5576892 | Phase 0 - rapid depolarisation | 6.046121e-01 | 0.219 |
R-HSA-451326 | Activation of kainate receptors upon glutamate binding | 6.046121e-01 | 0.219 |
R-HSA-5620971 | Pyroptosis | 6.046121e-01 | 0.219 |
R-HSA-5654732 | Negative regulation of FGFR3 signaling | 6.046121e-01 | 0.219 |
R-HSA-8940973 | RUNX2 regulates osteoblast differentiation | 6.046121e-01 | 0.219 |
R-HSA-622312 | Inflammasomes | 6.046121e-01 | 0.219 |
R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis | 6.054055e-01 | 0.218 |
R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission | 6.064362e-01 | 0.217 |
R-HSA-112040 | G-protein mediated events | 6.065900e-01 | 0.217 |
R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis | 6.072633e-01 | 0.217 |
R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency | 6.072633e-01 | 0.217 |
R-HSA-9860931 | Response of endothelial cells to shear stress | 6.072633e-01 | 0.217 |
R-HSA-421270 | Cell-cell junction organization | 6.080116e-01 | 0.216 |
R-HSA-1280218 | Adaptive Immune System | 6.099849e-01 | 0.215 |
R-HSA-9948299 | Ribosome-associated quality control | 6.104112e-01 | 0.214 |
R-HSA-5358351 | Signaling by Hedgehog | 6.104112e-01 | 0.214 |
R-HSA-9730414 | MITF-M-regulated melanocyte development | 6.105712e-01 | 0.214 |
R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogen... | 6.130816e-01 | 0.212 |
R-HSA-5619507 | Activation of HOX genes during differentiation | 6.130816e-01 | 0.212 |
R-HSA-9615710 | Late endosomal microautophagy | 6.152681e-01 | 0.211 |
R-HSA-5334118 | DNA methylation | 6.152681e-01 | 0.211 |
R-HSA-5654708 | Downstream signaling of activated FGFR3 | 6.152681e-01 | 0.211 |
R-HSA-9006335 | Signaling by Erythropoietin | 6.152681e-01 | 0.211 |
R-HSA-5654733 | Negative regulation of FGFR4 signaling | 6.152681e-01 | 0.211 |
R-HSA-9692914 | SARS-CoV-1-host interactions | 6.245436e-01 | 0.204 |
R-HSA-76046 | RNA Polymerase III Transcription Initiation | 6.256375e-01 | 0.204 |
R-HSA-68962 | Activation of the pre-replicative complex | 6.256375e-01 | 0.204 |
R-HSA-2424491 | DAP12 signaling | 6.256375e-01 | 0.204 |
R-HSA-114452 | Activation of BH3-only proteins | 6.256375e-01 | 0.204 |
R-HSA-1474151 | Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation | 6.256375e-01 | 0.204 |
R-HSA-1250196 | SHC1 events in ERBB2 signaling | 6.256375e-01 | 0.204 |
R-HSA-5654716 | Downstream signaling of activated FGFR4 | 6.256375e-01 | 0.204 |
R-HSA-112311 | Neurotransmitter clearance | 6.256375e-01 | 0.204 |
R-HSA-1257604 | PIP3 activates AKT signaling | 6.276432e-01 | 0.202 |
R-HSA-448424 | Interleukin-17 signaling | 6.278298e-01 | 0.202 |
R-HSA-9843940 | Regulation of endogenous retroelements by KRAB-ZFP proteins | 6.278298e-01 | 0.202 |
R-HSA-69239 | Synthesis of DNA | 6.301869e-01 | 0.201 |
R-HSA-9705671 | SARS-CoV-2 activates/modulates innate and adaptive immune responses | 6.350745e-01 | 0.197 |
R-HSA-9833109 | Evasion by RSV of host interferon responses | 6.357281e-01 | 0.197 |
R-HSA-182971 | EGFR downregulation | 6.357281e-01 | 0.197 |
R-HSA-72706 | GTP hydrolysis and joining of the 60S ribosomal subunit | 6.357714e-01 | 0.197 |
R-HSA-156827 | L13a-mediated translational silencing of Ceruloplasmin expression | 6.357714e-01 | 0.197 |
R-HSA-198725 | Nuclear Events (kinase and transcription factor activation) | 6.414887e-01 | 0.193 |
R-HSA-2871837 | FCERI mediated NF-kB activation | 6.446531e-01 | 0.191 |
R-HSA-4791275 | Signaling by WNT in cancer | 6.455473e-01 | 0.190 |
R-HSA-4086398 | Ca2+ pathway | 6.481689e-01 | 0.188 |
R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE | 6.481689e-01 | 0.188 |
R-HSA-674695 | RNA Polymerase II Pre-transcription Events | 6.547500e-01 | 0.184 |
R-HSA-1226099 | Signaling by FGFR in disease | 6.547500e-01 | 0.184 |
R-HSA-1839124 | FGFR1 mutant receptor activation | 6.551024e-01 | 0.184 |
R-HSA-9930044 | Nuclear RNA decay | 6.551024e-01 | 0.184 |
R-HSA-397795 | G-protein beta:gamma signalling | 6.551024e-01 | 0.184 |
R-HSA-6804758 | Regulation of TP53 Activity through Acetylation | 6.551024e-01 | 0.184 |
R-HSA-5654726 | Negative regulation of FGFR1 signaling | 6.551024e-01 | 0.184 |
R-HSA-8852135 | Protein ubiquitination | 6.612327e-01 | 0.180 |
R-HSA-166520 | Signaling by NTRKs | 6.633092e-01 | 0.178 |
R-HSA-390522 | Striated Muscle Contraction | 6.644005e-01 | 0.178 |
R-HSA-9818027 | NFE2L2 regulating anti-oxidant/detoxification enzymes | 6.644005e-01 | 0.178 |
R-HSA-9768727 | Regulation of CDH1 posttranslational processing and trafficking to plasma membra... | 6.644005e-01 | 0.178 |
R-HSA-2024101 | CS/DS degradation | 6.644005e-01 | 0.178 |
R-HSA-5696394 | DNA Damage Recognition in GG-NER | 6.644005e-01 | 0.178 |
R-HSA-5223345 | Miscellaneous transport and binding events | 6.644005e-01 | 0.178 |
R-HSA-114508 | Effects of PIP2 hydrolysis | 6.644005e-01 | 0.178 |
R-HSA-9619665 | EGR2 and SOX10-mediated initiation of Schwann cell myelination | 6.644005e-01 | 0.178 |
R-HSA-1971475 | Glycosaminoglycan-protein linkage region biosynthesis | 6.734484e-01 | 0.172 |
R-HSA-1980145 | Signaling by NOTCH2 | 6.734484e-01 | 0.172 |
R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding | 6.734484e-01 | 0.172 |
R-HSA-392518 | Signal amplification | 6.734484e-01 | 0.172 |
R-HSA-5365859 | RA biosynthesis pathway | 6.734484e-01 | 0.172 |
R-HSA-5654727 | Negative regulation of FGFR2 signaling | 6.734484e-01 | 0.172 |
R-HSA-203615 | eNOS activation | 6.734484e-01 | 0.172 |
R-HSA-5619084 | ABC transporter disorders | 6.800951e-01 | 0.167 |
R-HSA-9010553 | Regulation of expression of SLITs and ROBOs | 6.812898e-01 | 0.167 |
R-HSA-446652 | Interleukin-1 family signaling | 6.812898e-01 | 0.167 |
R-HSA-381042 | PERK regulates gene expression | 6.822530e-01 | 0.166 |
R-HSA-9860927 | Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZ... | 6.822530e-01 | 0.166 |
R-HSA-5654696 | Downstream signaling of activated FGFR2 | 6.822530e-01 | 0.166 |
R-HSA-5654687 | Downstream signaling of activated FGFR1 | 6.822530e-01 | 0.166 |
R-HSA-187687 | Signalling to ERKs | 6.822530e-01 | 0.166 |
R-HSA-69306 | DNA Replication | 6.856787e-01 | 0.164 |
R-HSA-1655829 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | 6.861894e-01 | 0.164 |
R-HSA-72737 | Cap-dependent Translation Initiation | 6.883607e-01 | 0.162 |
R-HSA-72613 | Eukaryotic Translation Initiation | 6.883607e-01 | 0.162 |
R-HSA-73887 | Death Receptor Signaling | 6.900250e-01 | 0.161 |
R-HSA-749476 | RNA Polymerase III Abortive And Retractive Initiation | 6.908207e-01 | 0.161 |
R-HSA-74158 | RNA Polymerase III Transcription | 6.908207e-01 | 0.161 |
R-HSA-8853659 | RET signaling | 6.908207e-01 | 0.161 |
R-HSA-8941326 | RUNX2 regulates bone development | 6.908207e-01 | 0.161 |
R-HSA-2995410 | Nuclear Envelope (NE) Reassembly | 6.921882e-01 | 0.160 |
R-HSA-9856530 | High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR... | 6.921882e-01 | 0.160 |
R-HSA-5654738 | Signaling by FGFR2 | 6.921882e-01 | 0.160 |
R-HSA-2151201 | Transcriptional activation of mitochondrial biogenesis | 6.980923e-01 | 0.156 |
R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex | 6.991579e-01 | 0.155 |
R-HSA-419037 | NCAM1 interactions | 6.991579e-01 | 0.155 |
R-HSA-390247 | Beta-oxidation of very long chain fatty acids | 6.991579e-01 | 0.155 |
R-HSA-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | 6.991579e-01 | 0.155 |
R-HSA-9610379 | HCMV Late Events | 7.028077e-01 | 0.153 |
R-HSA-8878166 | Transcriptional regulation by RUNX2 | 7.029829e-01 | 0.153 |
R-HSA-6785470 | tRNA processing in the mitochondrion | 7.072708e-01 | 0.150 |
R-HSA-9958790 | SLC-mediated transport of inorganic anions | 7.072708e-01 | 0.150 |
R-HSA-202131 | Metabolism of nitric oxide: NOS3 activation and regulation | 7.072708e-01 | 0.150 |
R-HSA-452723 | Transcriptional regulation of pluripotent stem cells | 7.072708e-01 | 0.150 |
R-HSA-5668541 | TNFR2 non-canonical NF-kB pathway | 7.096191e-01 | 0.149 |
R-HSA-162582 | Signal Transduction | 7.103160e-01 | 0.149 |
R-HSA-877300 | Interferon gamma signaling | 7.111162e-01 | 0.148 |
R-HSA-73886 | Chromosome Maintenance | 7.124374e-01 | 0.147 |
R-HSA-167200 | Formation of HIV-1 elongation complex containing HIV-1 Tat | 7.151654e-01 | 0.146 |
R-HSA-8964043 | Plasma lipoprotein clearance | 7.151654e-01 | 0.146 |
R-HSA-381771 | Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) | 7.151654e-01 | 0.146 |
R-HSA-9648002 | RAS processing | 7.151654e-01 | 0.146 |
R-HSA-112315 | Transmission across Chemical Synapses | 7.182957e-01 | 0.144 |
R-HSA-6802957 | Oncogenic MAPK signaling | 7.207762e-01 | 0.142 |
R-HSA-5687128 | MAPK6/MAPK4 signaling | 7.207762e-01 | 0.142 |
R-HSA-167246 | Tat-mediated elongation of the HIV-1 transcript | 7.228476e-01 | 0.141 |
R-HSA-167152 | Formation of HIV elongation complex in the absence of HIV Tat | 7.228476e-01 | 0.141 |
R-HSA-167169 | HIV Transcription Elongation | 7.228476e-01 | 0.141 |
R-HSA-8868766 | rRNA processing in the mitochondrion | 7.228476e-01 | 0.141 |
R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling | 7.237384e-01 | 0.140 |
R-HSA-9821002 | Chromatin modifications during the maternal to zygotic transition (MZT) | 7.303230e-01 | 0.136 |
R-HSA-110313 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templa... | 7.303230e-01 | 0.136 |
R-HSA-73933 | Resolution of Abasic Sites (AP sites) | 7.303230e-01 | 0.136 |
R-HSA-5619115 | Disorders of transmembrane transporters | 7.357305e-01 | 0.133 |
R-HSA-438064 | Post NMDA receptor activation events | 7.368333e-01 | 0.133 |
R-HSA-70268 | Pyruvate metabolism | 7.368333e-01 | 0.133 |
R-HSA-9609736 | Assembly and cell surface presentation of NMDA receptors | 7.375972e-01 | 0.132 |
R-HSA-5675221 | Negative regulation of MAPK pathway | 7.375972e-01 | 0.132 |
R-HSA-442660 | SLC-mediated transport of neurotransmitters | 7.375972e-01 | 0.132 |
R-HSA-9615017 | FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes | 7.375972e-01 | 0.132 |
R-HSA-174417 | Telomere C-strand (Lagging Strand) Synthesis | 7.375972e-01 | 0.132 |
R-HSA-156902 | Peptide chain elongation | 7.420082e-01 | 0.130 |
R-HSA-5619102 | SLC transporter disorders | 7.426510e-01 | 0.129 |
R-HSA-991365 | Activation of GABAB receptors | 7.446757e-01 | 0.128 |
R-HSA-977444 | GABA B receptor activation | 7.446757e-01 | 0.128 |
R-HSA-400508 | Incretin synthesis, secretion, and inactivation | 7.446757e-01 | 0.128 |
R-HSA-9609646 | HCMV Infection | 7.452618e-01 | 0.128 |
R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases | 7.463236e-01 | 0.127 |
R-HSA-1236974 | ER-Phagosome pathway | 7.470959e-01 | 0.127 |
R-HSA-73621 | Pyrimidine catabolism | 7.515636e-01 | 0.124 |
R-HSA-9637690 | Response of Mtb to phagocytosis | 7.515636e-01 | 0.124 |
R-HSA-9954714 | PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7.570136e-01 | 0.121 |
R-HSA-2172127 | DAP12 interactions | 7.582661e-01 | 0.120 |
R-HSA-190828 | Gap junction trafficking | 7.582661e-01 | 0.120 |
R-HSA-196741 | Cobalamin (Cbl, vitamin B12) transport and metabolism | 7.582661e-01 | 0.120 |
R-HSA-5621481 | C-type lectin receptors (CLRs) | 7.609948e-01 | 0.119 |
R-HSA-975956 | Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7.618454e-01 | 0.118 |
R-HSA-6783310 | Fanconi Anemia Pathway | 7.647882e-01 | 0.116 |
R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism | 7.647882e-01 | 0.116 |
R-HSA-9660821 | ADORA2B mediated anti-inflammatory cytokines production | 7.647882e-01 | 0.116 |
R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins | 7.647882e-01 | 0.116 |
R-HSA-156842 | Eukaryotic Translation Elongation | 7.665938e-01 | 0.115 |
R-HSA-2682334 | EPH-Ephrin signaling | 7.665938e-01 | 0.115 |
R-HSA-449147 | Signaling by Interleukins | 7.706278e-01 | 0.113 |
R-HSA-983169 | Class I MHC mediated antigen processing & presentation | 7.726274e-01 | 0.112 |
R-HSA-437239 | Recycling pathway of L1 | 7.773104e-01 | 0.109 |
R-HSA-3928665 | EPH-ephrin mediated repulsion of cells | 7.773104e-01 | 0.109 |
R-HSA-1483191 | Synthesis of PC | 7.773104e-01 | 0.109 |
R-HSA-112316 | Neuronal System | 7.797341e-01 | 0.108 |
R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ri... | 7.803487e-01 | 0.108 |
R-HSA-9634597 | GPER1 signaling | 7.833198e-01 | 0.106 |
R-HSA-9725371 | Nuclear events stimulated by ALK signaling in cancer | 7.833198e-01 | 0.106 |
R-HSA-72766 | Translation | 7.840022e-01 | 0.106 |
R-HSA-72764 | Eukaryotic Translation Termination | 7.847734e-01 | 0.105 |
R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide | 7.847734e-01 | 0.105 |
R-HSA-163685 | Integration of energy metabolism | 7.872988e-01 | 0.104 |
R-HSA-157858 | Gap junction trafficking and regulation | 7.891674e-01 | 0.103 |
R-HSA-73893 | DNA Damage Bypass | 7.891674e-01 | 0.103 |
R-HSA-9679506 | SARS-CoV Infections | 7.912881e-01 | 0.102 |
R-HSA-5655253 | Signaling by FGFR2 in disease | 7.948575e-01 | 0.100 |
R-HSA-422356 | Regulation of insulin secretion | 7.975812e-01 | 0.098 |
R-HSA-190236 | Signaling by FGFR | 7.975812e-01 | 0.098 |
R-HSA-975871 | MyD88 cascade initiated on plasma membrane | 7.975812e-01 | 0.098 |
R-HSA-168176 | Toll Like Receptor 5 (TLR5) Cascade | 7.975812e-01 | 0.098 |
R-HSA-168142 | Toll Like Receptor 10 (TLR10) Cascade | 7.975812e-01 | 0.098 |
R-HSA-9864848 | Complex IV assembly | 8.003944e-01 | 0.097 |
R-HSA-382556 | ABC-family proteins mediated transport | 8.057410e-01 | 0.094 |
R-HSA-72187 | mRNA 3'-end processing | 8.057822e-01 | 0.094 |
R-HSA-73772 | RNA Polymerase I Promoter Escape | 8.057822e-01 | 0.094 |
R-HSA-2408557 | Selenocysteine synthesis | 8.097103e-01 | 0.092 |
R-HSA-9020702 | Interleukin-1 signaling | 8.097103e-01 | 0.092 |
R-HSA-5250924 | B-WICH complex positively regulates rRNA expression | 8.110249e-01 | 0.091 |
R-HSA-445355 | Smooth Muscle Contraction | 8.110249e-01 | 0.091 |
R-HSA-442755 | Activation of NMDA receptors and postsynaptic events | 8.136073e-01 | 0.090 |
R-HSA-192823 | Viral mRNA Translation | 8.174329e-01 | 0.088 |
R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism | 8.210904e-01 | 0.086 |
R-HSA-9833110 | RSV-host interactions | 8.248741e-01 | 0.084 |
R-HSA-193648 | NRAGE signals death through JNK | 8.259207e-01 | 0.083 |
R-HSA-3299685 | Detoxification of Reactive Oxygen Species | 8.259207e-01 | 0.083 |
R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | 8.259207e-01 | 0.083 |
R-HSA-168164 | Toll Like Receptor 3 (TLR3) Cascade | 8.284917e-01 | 0.082 |
R-HSA-8939211 | ESR-mediated signaling | 8.297807e-01 | 0.081 |
R-HSA-109582 | Hemostasis | 8.348204e-01 | 0.078 |
R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane | 8.355258e-01 | 0.078 |
R-HSA-1236975 | Antigen processing-Cross presentation | 8.389444e-01 | 0.076 |
R-HSA-975138 | TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation | 8.389444e-01 | 0.076 |
R-HSA-2672351 | Stimuli-sensing channels | 8.389444e-01 | 0.076 |
R-HSA-9033241 | Peroxisomal protein import | 8.396449e-01 | 0.076 |
R-HSA-429914 | Deadenylation-dependent mRNA decay | 8.396449e-01 | 0.076 |
R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures | 8.396449e-01 | 0.076 |
R-HSA-180786 | Extension of Telomeres | 8.396449e-01 | 0.076 |
R-HSA-975155 | MyD88 dependent cascade initiated on endosome | 8.422986e-01 | 0.075 |
R-HSA-9820448 | Developmental Cell Lineages of the Exocrine Pancreas | 8.424538e-01 | 0.074 |
R-HSA-977443 | GABA receptor activation | 8.439754e-01 | 0.074 |
R-HSA-1660661 | Sphingolipid de novo biosynthesis | 8.439754e-01 | 0.074 |
R-HSA-937061 | TRIF (TICAM1)-mediated TLR4 signaling | 8.455894e-01 | 0.073 |
R-HSA-166166 | MyD88-independent TLR4 cascade | 8.455894e-01 | 0.073 |
R-HSA-112043 | PLC beta mediated events | 8.481891e-01 | 0.072 |
R-HSA-445717 | Aquaporin-mediated transport | 8.481891e-01 | 0.072 |
R-HSA-1989781 | PPARA activates gene expression | 8.507885e-01 | 0.070 |
R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence | 8.522893e-01 | 0.069 |
R-HSA-1268020 | Mitochondrial protein import | 8.522893e-01 | 0.069 |
R-HSA-375165 | NCAM signaling for neurite out-growth | 8.522893e-01 | 0.069 |
R-HSA-1660499 | Synthesis of PIPs at the plasma membrane | 8.522893e-01 | 0.069 |
R-HSA-168181 | Toll Like Receptor 7/8 (TLR7/8) Cascade | 8.550912e-01 | 0.068 |
R-HSA-400206 | Regulation of lipid metabolism by PPARalpha | 8.561298e-01 | 0.067 |
R-HSA-6790901 | rRNA modification in the nucleus and cytosol | 8.562791e-01 | 0.067 |
R-HSA-9006927 | Signaling by Non-Receptor Tyrosine Kinases | 8.562791e-01 | 0.067 |
R-HSA-8848021 | Signaling by PTK6 | 8.562791e-01 | 0.067 |
R-HSA-72172 | mRNA Splicing | 8.599000e-01 | 0.066 |
R-HSA-168138 | Toll Like Receptor 9 (TLR9) Cascade | 8.640572e-01 | 0.063 |
R-HSA-6782315 | tRNA modification in the nucleus and cytosol | 8.676146e-01 | 0.062 |
R-HSA-9830369 | Kidney development | 8.711912e-01 | 0.060 |
R-HSA-597592 | Post-translational protein modification | 8.743418e-01 | 0.058 |
R-HSA-167172 | Transcription of the HIV genome | 8.746715e-01 | 0.058 |
R-HSA-5218859 | Regulated Necrosis | 8.746715e-01 | 0.058 |
R-HSA-9694516 | SARS-CoV-2 Infection | 8.764590e-01 | 0.057 |
R-HSA-166058 | MyD88:MAL(TIRAP) cascade initiated on plasma membrane | 8.778782e-01 | 0.057 |
R-HSA-168188 | Toll Like Receptor TLR6:TLR2 Cascade | 8.778782e-01 | 0.057 |
R-HSA-204005 | COPII-mediated vesicle transport | 8.813530e-01 | 0.055 |
R-HSA-427413 | NoRC negatively regulates rRNA expression | 8.845593e-01 | 0.053 |
R-HSA-8978934 | Metabolism of cofactors | 8.845593e-01 | 0.053 |
R-HSA-5620920 | Cargo trafficking to the periciliary membrane | 8.845593e-01 | 0.053 |
R-HSA-9856649 | Transcriptional and post-translational regulation of MITF-M expression and activ... | 8.845593e-01 | 0.053 |
R-HSA-975634 | Retinoid metabolism and transport | 8.845593e-01 | 0.053 |
R-HSA-168179 | Toll Like Receptor TLR1:TLR2 Cascade | 8.855373e-01 | 0.053 |
R-HSA-181438 | Toll Like Receptor 2 (TLR2) Cascade | 8.855373e-01 | 0.053 |
R-HSA-168256 | Immune System | 8.892980e-01 | 0.051 |
R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane | 8.907148e-01 | 0.050 |
R-HSA-418555 | G alpha (s) signalling events | 8.911157e-01 | 0.050 |
R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules | 8.936687e-01 | 0.049 |
R-HSA-9818564 | Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 8.950591e-01 | 0.048 |
R-HSA-9841922 | MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesi... | 8.950591e-01 | 0.048 |
R-HSA-9851695 | Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 8.950591e-01 | 0.048 |
R-HSA-71403 | Citric acid cycle (TCA cycle) | 8.965428e-01 | 0.047 |
R-HSA-917937 | Iron uptake and transport | 8.965428e-01 | 0.047 |
R-HSA-5633008 | TP53 Regulates Transcription of Cell Death Genes | 8.965428e-01 | 0.047 |
R-HSA-9006931 | Signaling by Nuclear Receptors | 8.981136e-01 | 0.047 |
R-HSA-9678108 | SARS-CoV-1 Infection | 8.990615e-01 | 0.046 |
R-HSA-114608 | Platelet degranulation | 8.995391e-01 | 0.046 |
R-HSA-9824446 | Viral Infection Pathways | 8.996191e-01 | 0.046 |
R-HSA-611105 | Respiratory electron transport | 9.046746e-01 | 0.044 |
R-HSA-383280 | Nuclear Receptor transcription pathway | 9.047085e-01 | 0.043 |
R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes | 9.047085e-01 | 0.043 |
R-HSA-416482 | G alpha (12/13) signalling events | 9.047085e-01 | 0.043 |
R-HSA-6798695 | Neutrophil degranulation | 9.050570e-01 | 0.043 |
R-HSA-9925561 | Developmental Lineage of Pancreatic Acinar Cells | 9.072849e-01 | 0.042 |
R-HSA-5250941 | Negative epigenetic regulation of rRNA expression | 9.097918e-01 | 0.041 |
R-HSA-6806667 | Metabolism of fat-soluble vitamins | 9.122311e-01 | 0.040 |
R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ | 9.138540e-01 | 0.039 |
R-HSA-2559582 | Senescence-Associated Secretory Phenotype (SASP) | 9.146045e-01 | 0.039 |
R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) | 9.191610e-01 | 0.037 |
R-HSA-390918 | Peroxisomal lipid metabolism | 9.191610e-01 | 0.037 |
R-HSA-6807505 | RNA polymerase II transcribes snRNA genes | 9.255450e-01 | 0.034 |
R-HSA-390466 | Chaperonin-mediated protein folding | 9.275591e-01 | 0.033 |
R-HSA-9645723 | Diseases of programmed cell death | 9.295189e-01 | 0.032 |
R-HSA-72163 | mRNA Splicing - Major Pathway | 9.301123e-01 | 0.031 |
R-HSA-73884 | Base Excision Repair | 9.332812e-01 | 0.030 |
R-HSA-391251 | Protein folding | 9.385523e-01 | 0.028 |
R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance | 9.385523e-01 | 0.028 |
R-HSA-983695 | Antigen activates B Cell Receptor (BCR) leading to generation of second messenge... | 9.402153e-01 | 0.027 |
R-HSA-166016 | Toll Like Receptor 4 (TLR4) Cascade | 9.410528e-01 | 0.026 |
R-HSA-1483206 | Glycerophospholipid biosynthesis | 9.415222e-01 | 0.026 |
R-HSA-9837999 | Mitochondrial protein degradation | 9.418334e-01 | 0.026 |
R-HSA-1474290 | Collagen formation | 9.418334e-01 | 0.026 |
R-HSA-9609507 | Protein localization | 9.473553e-01 | 0.023 |
R-HSA-170834 | Signaling by TGF-beta Receptor Complex | 9.478804e-01 | 0.023 |
R-HSA-9614085 | FOXO-mediated transcription | 9.506644e-01 | 0.022 |
R-HSA-192105 | Synthesis of bile acids and bile salts | 9.506644e-01 | 0.022 |
R-HSA-397014 | Muscle contraction | 9.521643e-01 | 0.021 |
R-HSA-9009391 | Extra-nuclear estrogen signaling | 9.533000e-01 | 0.021 |
R-HSA-1483255 | PI Metabolism | 9.545647e-01 | 0.020 |
R-HSA-9006936 | Signaling by TGFB family members | 9.551099e-01 | 0.020 |
R-HSA-2408522 | Selenoamino acid metabolism | 9.590382e-01 | 0.018 |
R-HSA-5696398 | Nucleotide Excision Repair | 9.592907e-01 | 0.018 |
R-HSA-76002 | Platelet activation, signaling and aggregation | 9.593439e-01 | 0.018 |
R-HSA-9824443 | Parasitic Infection Pathways | 9.643680e-01 | 0.016 |
R-HSA-9658195 | Leishmania infection | 9.643680e-01 | 0.016 |
R-HSA-194068 | Bile acid and bile salt metabolism | 9.645144e-01 | 0.016 |
R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol | 9.651337e-01 | 0.015 |
R-HSA-2871796 | FCERI mediated MAPK activation | 9.664115e-01 | 0.015 |
R-HSA-9664433 | Leishmania parasite growth and survival | 9.674706e-01 | 0.014 |
R-HSA-9662851 | Anti-inflammatory response favouring Leishmania parasite infection | 9.674706e-01 | 0.014 |
R-HSA-9675108 | Nervous system development | 9.676321e-01 | 0.014 |
R-HSA-72312 | rRNA processing | 9.682525e-01 | 0.014 |
R-HSA-1428517 | Aerobic respiration and respiratory electron transport | 9.689600e-01 | 0.014 |
R-HSA-5673001 | RAF/MAP kinase cascade | 9.694019e-01 | 0.013 |
R-HSA-2871809 | FCERI mediated Ca+2 mobilization | 9.707232e-01 | 0.013 |
R-HSA-373760 | L1CAM interactions | 9.715169e-01 | 0.013 |
R-HSA-422475 | Axon guidance | 9.721815e-01 | 0.012 |
R-HSA-2980736 | Peptide hormone metabolism | 9.722891e-01 | 0.012 |
R-HSA-1483257 | Phospholipid metabolism | 9.727336e-01 | 0.012 |
R-HSA-5684996 | MAPK1/MAPK3 signaling | 9.732547e-01 | 0.012 |
R-HSA-9635486 | Infection with Mycobacterium tuberculosis | 9.751745e-01 | 0.011 |
R-HSA-418594 | G alpha (i) signalling events | 9.763548e-01 | 0.010 |
R-HSA-8868773 | rRNA processing in the nucleus and cytosol | 9.770679e-01 | 0.010 |
R-HSA-6809371 | Formation of the cornified envelope | 9.771401e-01 | 0.010 |
R-HSA-983712 | Ion channel transport | 9.775997e-01 | 0.010 |
R-HSA-168898 | Toll-like Receptor Cascades | 9.786277e-01 | 0.009 |
R-HSA-9664323 | FCGR3A-mediated IL10 synthesis | 9.789503e-01 | 0.009 |
R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling | 9.791244e-01 | 0.009 |
R-HSA-1630316 | Glycosaminoglycan metabolism | 9.796099e-01 | 0.009 |
R-HSA-8956319 | Nucleotide catabolism | 9.806175e-01 | 0.009 |
R-HSA-446203 | Asparagine N-linked glycosylation | 9.817932e-01 | 0.008 |
R-HSA-5576891 | Cardiac conduction | 9.821530e-01 | 0.008 |
R-HSA-9734767 | Developmental Cell Lineages | 9.835007e-01 | 0.007 |
R-HSA-8957322 | Metabolism of steroids | 9.845660e-01 | 0.007 |
R-HSA-9664422 | FCGR3A-mediated phagocytosis | 9.864468e-01 | 0.006 |
R-HSA-9664407 | Parasite infection | 9.864468e-01 | 0.006 |
R-HSA-9664417 | Leishmania phagocytosis | 9.864468e-01 | 0.006 |
R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation | 9.868149e-01 | 0.006 |
R-HSA-1266738 | Developmental Biology | 9.890126e-01 | 0.005 |
R-HSA-2187338 | Visual phototransduction | 9.891266e-01 | 0.005 |
R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives | 9.899251e-01 | 0.004 |
R-HSA-5683057 | MAPK family signaling cascades | 9.902972e-01 | 0.004 |
R-HSA-392499 | Metabolism of proteins | 9.928323e-01 | 0.003 |
R-HSA-168249 | Innate Immune System | 9.955135e-01 | 0.002 |
R-HSA-3781865 | Diseases of glycosylation | 9.961871e-01 | 0.002 |
R-HSA-416476 | G alpha (q) signalling events | 9.964026e-01 | 0.002 |
R-HSA-5663205 | Infectious disease | 9.975184e-01 | 0.001 |
R-HSA-428157 | Sphingolipid metabolism | 9.976160e-01 | 0.001 |
R-HSA-6805567 | Keratinization | 9.979804e-01 | 0.001 |
R-HSA-1643685 | Disease | 9.987826e-01 | 0.001 |
R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors | 9.989604e-01 | 0.000 |
R-HSA-9824439 | Bacterial Infection Pathways | 9.990768e-01 | 0.000 |
R-HSA-15869 | Metabolism of nucleotides | 9.991196e-01 | 0.000 |
R-HSA-202733 | Cell surface interactions at the vascular wall | 9.991437e-01 | 0.000 |
R-HSA-425407 | SLC-mediated transmembrane transport | 9.992166e-01 | 0.000 |
R-HSA-196854 | Metabolism of vitamins and cofactors | 9.997065e-01 | 0.000 |
R-HSA-211945 | Phase I - Functionalization of compounds | 9.997254e-01 | 0.000 |
R-HSA-382551 | Transport of small molecules | 9.997478e-01 | 0.000 |
R-HSA-388396 | GPCR downstream signalling | 9.998093e-01 | 0.000 |
R-HSA-8978868 | Fatty acid metabolism | 9.999050e-01 | 0.000 |
R-HSA-1474244 | Extracellular matrix organization | 9.999372e-01 | 0.000 |
R-HSA-372790 | Signaling by GPCR | 9.999649e-01 | 0.000 |
R-HSA-71291 | Metabolism of amino acids and derivatives | 9.999777e-01 | 0.000 |
R-HSA-5668914 | Diseases of metabolism | 9.999958e-01 | 0.000 |
R-HSA-211859 | Biological oxidations | 9.999997e-01 | 0.000 |
R-HSA-556833 | Metabolism of lipids | 1.000000e+00 | 0.000 |
R-HSA-9709957 | Sensory Perception | 1.000000e+00 | 0.000 |
R-HSA-1430728 | Metabolism | 1.000000e+00 | -0.000 |
Download
kinase | JSD_mean | pearson_surrounding | kinase_max_IC_position | max_position_JSD |
---|---|---|---|---|
P38G |
0.882 | 0.907 | 1 | 0.853 |
CDK17 |
0.881 | 0.886 | 1 | 0.844 |
CDK19 |
0.878 | 0.844 | 1 | 0.791 |
CDK18 |
0.877 | 0.860 | 1 | 0.808 |
CDK8 |
0.877 | 0.853 | 1 | 0.752 |
JNK2 |
0.876 | 0.907 | 1 | 0.804 |
KIS |
0.875 | 0.768 | 1 | 0.726 |
P38D |
0.874 | 0.882 | 1 | 0.847 |
CDK3 |
0.873 | 0.780 | 1 | 0.835 |
CDK16 |
0.871 | 0.846 | 1 | 0.828 |
CDK1 |
0.870 | 0.843 | 1 | 0.786 |
CDK7 |
0.869 | 0.833 | 1 | 0.755 |
ERK1 |
0.869 | 0.855 | 1 | 0.787 |
P38B |
0.868 | 0.860 | 1 | 0.770 |
JNK3 |
0.867 | 0.896 | 1 | 0.774 |
HIPK2 |
0.867 | 0.773 | 1 | 0.787 |
CDK13 |
0.867 | 0.844 | 1 | 0.779 |
CDK5 |
0.865 | 0.817 | 1 | 0.725 |
CDK12 |
0.864 | 0.845 | 1 | 0.803 |
DYRK2 |
0.862 | 0.767 | 1 | 0.692 |
DYRK4 |
0.858 | 0.784 | 1 | 0.797 |
P38A |
0.858 | 0.830 | 1 | 0.693 |
CDK14 |
0.857 | 0.830 | 1 | 0.764 |
ERK2 |
0.857 | 0.856 | 1 | 0.733 |
CDK9 |
0.857 | 0.829 | 1 | 0.771 |
DYRK1B |
0.853 | 0.753 | 1 | 0.751 |
CDK10 |
0.851 | 0.772 | 1 | 0.782 |
NLK |
0.850 | 0.750 | 1 | 0.470 |
HIPK1 |
0.849 | 0.702 | 1 | 0.672 |
CDK4 |
0.848 | 0.825 | 1 | 0.811 |
CLK3 |
0.848 | 0.491 | 1 | 0.434 |
JNK1 |
0.847 | 0.803 | 1 | 0.807 |
CDK2 |
0.846 | 0.667 | 1 | 0.652 |
CDK6 |
0.845 | 0.797 | 1 | 0.784 |
DYRK1A |
0.843 | 0.627 | 1 | 0.651 |
HIPK4 |
0.842 | 0.459 | 1 | 0.465 |
HIPK3 |
0.842 | 0.686 | 1 | 0.642 |
ERK5 |
0.838 | 0.409 | 1 | 0.384 |
DYRK3 |
0.833 | 0.565 | 1 | 0.633 |
SRPK1 |
0.833 | 0.327 | -3 | 0.752 |
CLK1 |
0.830 | 0.425 | -3 | 0.756 |
MTOR |
0.827 | 0.210 | 1 | 0.261 |
CLK4 |
0.827 | 0.391 | -3 | 0.774 |
ICK |
0.825 | 0.362 | -3 | 0.847 |
COT |
0.823 | -0.075 | 2 | 0.899 |
CLK2 |
0.823 | 0.407 | -3 | 0.753 |
SRPK2 |
0.823 | 0.265 | -3 | 0.677 |
CDKL5 |
0.819 | 0.156 | -3 | 0.803 |
MAK |
0.819 | 0.502 | -2 | 0.790 |
PRP4 |
0.819 | 0.480 | -3 | 0.788 |
CDKL1 |
0.819 | 0.138 | -3 | 0.811 |
TBK1 |
0.815 | -0.153 | 1 | 0.055 |
CDC7 |
0.814 | -0.121 | 1 | 0.086 |
PRPK |
0.814 | -0.103 | -1 | 0.884 |
MOS |
0.812 | -0.050 | 1 | 0.126 |
SRPK3 |
0.811 | 0.228 | -3 | 0.723 |
IKKE |
0.811 | -0.165 | 1 | 0.054 |
MOK |
0.810 | 0.463 | 1 | 0.555 |
CAMK1B |
0.810 | -0.029 | -3 | 0.875 |
GCN2 |
0.810 | -0.187 | 2 | 0.815 |
ULK2 |
0.809 | -0.178 | 2 | 0.820 |
DSTYK |
0.809 | -0.120 | 2 | 0.888 |
RAF1 |
0.809 | -0.188 | 1 | 0.068 |
BMPR2 |
0.808 | -0.137 | -2 | 0.921 |
ATR |
0.808 | -0.068 | 1 | 0.123 |
MST4 |
0.807 | -0.044 | 2 | 0.859 |
PDHK4 |
0.807 | -0.173 | 1 | 0.135 |
PRKD1 |
0.806 | -0.032 | -3 | 0.842 |
NEK6 |
0.806 | -0.083 | -2 | 0.884 |
NUAK2 |
0.806 | -0.000 | -3 | 0.854 |
IKKB |
0.805 | -0.176 | -2 | 0.775 |
PKN3 |
0.805 | -0.060 | -3 | 0.845 |
TGFBR2 |
0.804 | -0.065 | -2 | 0.861 |
NEK7 |
0.804 | -0.152 | -3 | 0.865 |
PIM3 |
0.803 | -0.071 | -3 | 0.840 |
NDR2 |
0.803 | -0.060 | -3 | 0.851 |
CAMK2G |
0.803 | -0.094 | 2 | 0.824 |
WNK1 |
0.803 | -0.099 | -2 | 0.885 |
PDHK1 |
0.802 | -0.189 | 1 | 0.113 |
ULK1 |
0.802 | -0.151 | -3 | 0.855 |
NIK |
0.802 | -0.085 | -3 | 0.895 |
CAMLCK |
0.801 | -0.023 | -2 | 0.886 |
PRKD2 |
0.801 | -0.017 | -3 | 0.792 |
ERK7 |
0.800 | 0.246 | 2 | 0.510 |
NDR1 |
0.800 | -0.071 | -3 | 0.846 |
AMPKA1 |
0.800 | -0.068 | -3 | 0.869 |
MARK4 |
0.800 | -0.068 | 4 | 0.870 |
HUNK |
0.799 | -0.147 | 2 | 0.843 |
PKCD |
0.799 | -0.045 | 2 | 0.807 |
RIPK3 |
0.798 | -0.156 | 3 | 0.806 |
CHAK2 |
0.798 | -0.084 | -1 | 0.877 |
TSSK1 |
0.798 | -0.044 | -3 | 0.891 |
WNK3 |
0.798 | -0.188 | 1 | 0.068 |
RSK2 |
0.798 | -0.030 | -3 | 0.783 |
BMPR1B |
0.797 | -0.020 | 1 | 0.061 |
SKMLCK |
0.797 | -0.075 | -2 | 0.872 |
PKN2 |
0.797 | -0.086 | -3 | 0.848 |
TSSK2 |
0.797 | -0.071 | -5 | 0.837 |
ATM |
0.797 | -0.066 | 1 | 0.094 |
IKKA |
0.797 | -0.096 | -2 | 0.759 |
DAPK2 |
0.797 | -0.064 | -3 | 0.882 |
MLK1 |
0.797 | -0.165 | 2 | 0.827 |
TGFBR1 |
0.796 | -0.010 | -2 | 0.861 |
NIM1 |
0.796 | -0.078 | 3 | 0.837 |
PIM1 |
0.795 | -0.007 | -3 | 0.788 |
P90RSK |
0.795 | -0.037 | -3 | 0.785 |
IRE1 |
0.795 | -0.114 | 1 | 0.068 |
ALK4 |
0.795 | -0.024 | -2 | 0.886 |
PINK1 |
0.795 | 0.181 | 1 | 0.287 |
P70S6KB |
0.795 | -0.030 | -3 | 0.809 |
AMPKA2 |
0.794 | -0.055 | -3 | 0.836 |
BCKDK |
0.794 | -0.163 | -1 | 0.843 |
NEK9 |
0.794 | -0.193 | 2 | 0.854 |
DNAPK |
0.793 | -0.045 | 1 | 0.122 |
MAPKAPK3 |
0.793 | -0.087 | -3 | 0.792 |
IRE2 |
0.793 | -0.089 | 2 | 0.785 |
RSK3 |
0.792 | -0.051 | -3 | 0.778 |
NUAK1 |
0.792 | -0.044 | -3 | 0.807 |
GRK1 |
0.791 | -0.066 | -2 | 0.783 |
PRKD3 |
0.791 | -0.023 | -3 | 0.756 |
LATS2 |
0.791 | -0.078 | -5 | 0.743 |
FAM20C |
0.791 | 0.008 | 2 | 0.654 |
GRK5 |
0.791 | -0.188 | -3 | 0.861 |
PKACG |
0.790 | -0.050 | -2 | 0.774 |
MLK2 |
0.790 | -0.167 | 2 | 0.840 |
MNK2 |
0.790 | -0.046 | -2 | 0.825 |
MAPKAPK2 |
0.790 | -0.054 | -3 | 0.741 |
ANKRD3 |
0.790 | -0.182 | 1 | 0.082 |
MELK |
0.790 | -0.083 | -3 | 0.822 |
PLK1 |
0.789 | -0.112 | -2 | 0.854 |
GRK6 |
0.789 | -0.143 | 1 | 0.068 |
PKR |
0.789 | -0.104 | 1 | 0.085 |
CAMK2D |
0.789 | -0.131 | -3 | 0.859 |
PAK6 |
0.789 | -0.017 | -2 | 0.755 |
LATS1 |
0.789 | -0.020 | -3 | 0.866 |
AURC |
0.789 | -0.008 | -2 | 0.698 |
MASTL |
0.789 | -0.216 | -2 | 0.837 |
RIPK1 |
0.788 | -0.215 | 1 | 0.058 |
VRK2 |
0.788 | 0.003 | 1 | 0.170 |
MLK3 |
0.788 | -0.095 | 2 | 0.753 |
ACVR2A |
0.788 | -0.054 | -2 | 0.859 |
DLK |
0.788 | -0.230 | 1 | 0.082 |
ACVR2B |
0.788 | -0.056 | -2 | 0.864 |
PAK3 |
0.787 | -0.088 | -2 | 0.821 |
CAMK4 |
0.787 | -0.123 | -3 | 0.835 |
PAK1 |
0.786 | -0.066 | -2 | 0.817 |
PHKG1 |
0.786 | -0.097 | -3 | 0.837 |
GRK7 |
0.786 | -0.023 | 1 | 0.106 |
QSK |
0.786 | -0.049 | 4 | 0.850 |
QIK |
0.786 | -0.107 | -3 | 0.848 |
ALK2 |
0.785 | -0.042 | -2 | 0.862 |
MEK1 |
0.785 | -0.137 | 2 | 0.876 |
BMPR1A |
0.785 | -0.020 | 1 | 0.054 |
SIK |
0.784 | -0.053 | -3 | 0.775 |
NEK2 |
0.784 | -0.161 | 2 | 0.821 |
PKCB |
0.784 | -0.069 | 2 | 0.750 |
PLK4 |
0.783 | -0.120 | 2 | 0.677 |
YSK4 |
0.783 | -0.188 | 1 | 0.058 |
TTBK2 |
0.783 | -0.212 | 2 | 0.729 |
MNK1 |
0.783 | -0.042 | -2 | 0.836 |
PKCA |
0.783 | -0.065 | 2 | 0.739 |
MARK2 |
0.783 | -0.049 | 4 | 0.788 |
MSK2 |
0.782 | -0.065 | -3 | 0.745 |
SMG1 |
0.782 | -0.104 | 1 | 0.111 |
GRK4 |
0.782 | -0.178 | -2 | 0.823 |
CAMK2B |
0.782 | -0.080 | 2 | 0.798 |
PKCG |
0.781 | -0.080 | 2 | 0.746 |
MPSK1 |
0.781 | 0.002 | 1 | 0.141 |
AURB |
0.781 | -0.028 | -2 | 0.693 |
PKCZ |
0.781 | -0.090 | 2 | 0.793 |
SGK3 |
0.781 | -0.034 | -3 | 0.770 |
MARK3 |
0.781 | -0.049 | 4 | 0.819 |
PKG2 |
0.781 | -0.027 | -2 | 0.717 |
CHK1 |
0.780 | -0.078 | -3 | 0.853 |
AKT2 |
0.780 | 0.003 | -3 | 0.695 |
MLK4 |
0.780 | -0.128 | 2 | 0.740 |
GSK3A |
0.780 | 0.174 | 4 | 0.409 |
CHAK1 |
0.779 | -0.173 | 2 | 0.782 |
PKCH |
0.779 | -0.091 | 2 | 0.740 |
PKACB |
0.779 | -0.008 | -2 | 0.711 |
SSTK |
0.779 | -0.044 | 4 | 0.841 |
HRI |
0.779 | -0.146 | -2 | 0.901 |
RSK4 |
0.779 | -0.032 | -3 | 0.749 |
PLK3 |
0.779 | -0.114 | 2 | 0.784 |
BRSK2 |
0.778 | -0.111 | -3 | 0.832 |
PAK2 |
0.778 | -0.094 | -2 | 0.803 |
PHKG2 |
0.778 | -0.087 | -3 | 0.815 |
BRSK1 |
0.778 | -0.086 | -3 | 0.805 |
MYLK4 |
0.777 | -0.055 | -2 | 0.801 |
PIM2 |
0.777 | -0.014 | -3 | 0.757 |
CAMK1G |
0.777 | -0.068 | -3 | 0.775 |
TLK2 |
0.777 | -0.144 | 1 | 0.060 |
DCAMKL1 |
0.777 | -0.064 | -3 | 0.800 |
IRAK4 |
0.777 | -0.138 | 1 | 0.048 |
BRAF |
0.777 | -0.125 | -4 | 0.867 |
WNK4 |
0.776 | -0.141 | -2 | 0.875 |
MARK1 |
0.776 | -0.079 | 4 | 0.841 |
CAMK2A |
0.775 | -0.069 | 2 | 0.798 |
MEKK1 |
0.775 | -0.169 | 1 | 0.079 |
PERK |
0.775 | -0.158 | -2 | 0.888 |
ZAK |
0.774 | -0.176 | 1 | 0.067 |
MEKK2 |
0.774 | -0.132 | 2 | 0.834 |
MAPKAPK5 |
0.774 | -0.112 | -3 | 0.731 |
MEK5 |
0.774 | -0.181 | 2 | 0.850 |
DRAK1 |
0.774 | -0.164 | 1 | 0.052 |
MEKK3 |
0.774 | -0.173 | 1 | 0.076 |
MSK1 |
0.774 | -0.052 | -3 | 0.752 |
PRKX |
0.773 | 0.014 | -3 | 0.683 |
DCAMKL2 |
0.773 | -0.064 | -3 | 0.826 |
AURA |
0.773 | -0.039 | -2 | 0.659 |
TAO3 |
0.773 | -0.073 | 1 | 0.104 |
SNRK |
0.772 | -0.178 | 2 | 0.699 |
MST3 |
0.772 | -0.096 | 2 | 0.835 |
GRK2 |
0.772 | -0.102 | -2 | 0.713 |
PKCT |
0.771 | -0.086 | 2 | 0.752 |
AKT1 |
0.771 | -0.017 | -3 | 0.715 |
NEK5 |
0.771 | -0.180 | 1 | 0.063 |
TLK1 |
0.770 | -0.145 | -2 | 0.856 |
PAK5 |
0.770 | -0.049 | -2 | 0.687 |
SMMLCK |
0.770 | -0.051 | -3 | 0.828 |
GAK |
0.769 | -0.048 | 1 | 0.125 |
PKCI |
0.769 | -0.063 | 2 | 0.759 |
TAO2 |
0.767 | -0.085 | 2 | 0.860 |
P70S6K |
0.767 | -0.059 | -3 | 0.719 |
PDK1 |
0.766 | -0.091 | 1 | 0.109 |
PAK4 |
0.766 | -0.040 | -2 | 0.691 |
GSK3B |
0.765 | 0.017 | 4 | 0.398 |
PKACA |
0.765 | -0.016 | -2 | 0.668 |
PKN1 |
0.764 | -0.060 | -3 | 0.738 |
NEK11 |
0.764 | -0.176 | 1 | 0.098 |
CK2A2 |
0.763 | -0.063 | 1 | 0.055 |
LKB1 |
0.763 | -0.102 | -3 | 0.864 |
NEK8 |
0.763 | -0.187 | 2 | 0.826 |
CAMK1D |
0.762 | -0.057 | -3 | 0.695 |
IRAK1 |
0.762 | -0.209 | -1 | 0.784 |
MAP3K15 |
0.761 | -0.141 | 1 | 0.081 |
SBK |
0.761 | 0.093 | -3 | 0.578 |
PKCE |
0.761 | -0.039 | 2 | 0.730 |
MEKK6 |
0.761 | -0.143 | 1 | 0.080 |
HGK |
0.761 | -0.114 | 3 | 0.897 |
CAMKK1 |
0.761 | -0.208 | -2 | 0.798 |
NEK4 |
0.760 | -0.186 | 1 | 0.054 |
TTBK1 |
0.760 | -0.180 | 2 | 0.647 |
CK1E |
0.760 | -0.063 | -3 | 0.528 |
MST2 |
0.760 | -0.146 | 1 | 0.065 |
PBK |
0.760 | -0.056 | 1 | 0.111 |
TNIK |
0.760 | -0.088 | 3 | 0.896 |
MINK |
0.759 | -0.147 | 1 | 0.057 |
PASK |
0.759 | -0.103 | -3 | 0.856 |
DAPK3 |
0.759 | -0.055 | -3 | 0.807 |
GCK |
0.758 | -0.132 | 1 | 0.082 |
CAMKK2 |
0.758 | -0.177 | -2 | 0.803 |
BUB1 |
0.758 | -0.019 | -5 | 0.778 |
SGK1 |
0.757 | 0.011 | -3 | 0.609 |
LOK |
0.757 | -0.111 | -2 | 0.819 |
LRRK2 |
0.757 | -0.078 | 2 | 0.851 |
AKT3 |
0.756 | -0.011 | -3 | 0.628 |
NEK1 |
0.756 | -0.181 | 1 | 0.048 |
BIKE |
0.756 | -0.026 | 1 | 0.126 |
MRCKB |
0.755 | -0.024 | -3 | 0.747 |
CHK2 |
0.755 | -0.042 | -3 | 0.642 |
EEF2K |
0.755 | -0.114 | 3 | 0.863 |
VRK1 |
0.754 | -0.182 | 2 | 0.882 |
HASPIN |
0.754 | -0.006 | -1 | 0.721 |
HPK1 |
0.754 | -0.127 | 1 | 0.085 |
CAMK1A |
0.753 | -0.042 | -3 | 0.661 |
KHS1 |
0.753 | -0.100 | 1 | 0.076 |
MRCKA |
0.753 | -0.037 | -3 | 0.764 |
GRK3 |
0.753 | -0.111 | -2 | 0.658 |
RIPK2 |
0.752 | -0.208 | 1 | 0.053 |
CK2A1 |
0.752 | -0.079 | 1 | 0.049 |
TAK1 |
0.752 | -0.208 | 1 | 0.057 |
CK1D |
0.752 | -0.039 | -3 | 0.474 |
MST1 |
0.752 | -0.157 | 1 | 0.056 |
NEK3 |
0.752 | -0.132 | 1 | 0.081 |
YSK1 |
0.751 | -0.145 | 2 | 0.817 |
ROCK2 |
0.751 | -0.039 | -3 | 0.794 |
AAK1 |
0.751 | 0.005 | 1 | 0.143 |
KHS2 |
0.751 | -0.072 | 1 | 0.089 |
MEK2 |
0.751 | -0.192 | 2 | 0.852 |
DAPK1 |
0.750 | -0.064 | -3 | 0.786 |
DMPK1 |
0.750 | 0.010 | -3 | 0.768 |
SLK |
0.749 | -0.106 | -2 | 0.755 |
PDHK3_TYR |
0.749 | 0.099 | 4 | 0.891 |
PKG1 |
0.749 | -0.039 | -2 | 0.648 |
PLK2 |
0.749 | -0.076 | -3 | 0.813 |
CK1A2 |
0.748 | -0.061 | -3 | 0.473 |
CK1G1 |
0.747 | -0.107 | -3 | 0.515 |
STK33 |
0.745 | -0.159 | 2 | 0.632 |
TTK |
0.744 | -0.067 | -2 | 0.861 |
CRIK |
0.742 | -0.015 | -3 | 0.713 |
TAO1 |
0.741 | -0.109 | 1 | 0.078 |
TESK1_TYR |
0.741 | -0.014 | 3 | 0.915 |
OSR1 |
0.741 | -0.105 | 2 | 0.828 |
ROCK1 |
0.741 | -0.041 | -3 | 0.761 |
PKMYT1_TYR |
0.740 | 0.083 | 3 | 0.890 |
LIMK2_TYR |
0.740 | 0.071 | -3 | 0.911 |
PDHK4_TYR |
0.738 | 0.015 | 2 | 0.880 |
ASK1 |
0.738 | -0.162 | 1 | 0.082 |
MYO3A |
0.737 | -0.110 | 1 | 0.076 |
MAP2K4_TYR |
0.736 | -0.044 | -1 | 0.904 |
MYO3B |
0.736 | -0.118 | 2 | 0.829 |
ALPHAK3 |
0.736 | -0.086 | -1 | 0.814 |
MAP2K6_TYR |
0.736 | -0.000 | -1 | 0.907 |
BMPR2_TYR |
0.736 | 0.010 | -1 | 0.911 |
PINK1_TYR |
0.736 | -0.118 | 1 | 0.126 |
MAP2K7_TYR |
0.735 | -0.116 | 2 | 0.870 |
PDHK1_TYR |
0.732 | -0.066 | -1 | 0.926 |
JAK2 |
0.732 | -0.110 | 1 | 0.104 |
RET |
0.732 | -0.143 | 1 | 0.094 |
LIMK1_TYR |
0.731 | -0.030 | 2 | 0.872 |
MST1R |
0.731 | -0.099 | 3 | 0.873 |
EPHA6 |
0.731 | -0.081 | -1 | 0.912 |
TYK2 |
0.731 | -0.186 | 1 | 0.081 |
CSF1R |
0.730 | -0.082 | 3 | 0.855 |
ROS1 |
0.728 | -0.130 | 3 | 0.854 |
JAK3 |
0.727 | -0.105 | 1 | 0.090 |
STLK3 |
0.727 | -0.177 | 1 | 0.053 |
NEK10_TYR |
0.727 | -0.115 | 1 | 0.086 |
JAK1 |
0.726 | -0.091 | 1 | 0.079 |
EPHB4 |
0.725 | -0.123 | -1 | 0.879 |
FGFR1 |
0.725 | -0.018 | 3 | 0.841 |
FGFR2 |
0.725 | -0.025 | 3 | 0.852 |
YES1 |
0.725 | -0.080 | -1 | 0.875 |
TYRO3 |
0.724 | -0.166 | 3 | 0.871 |
TXK |
0.724 | -0.076 | 1 | 0.053 |
ABL2 |
0.724 | -0.112 | -1 | 0.855 |
DDR1 |
0.724 | -0.124 | 4 | 0.815 |
INSRR |
0.723 | -0.103 | 3 | 0.825 |
TEK |
0.722 | -0.005 | 3 | 0.815 |
FLT3 |
0.721 | -0.140 | 3 | 0.863 |
TNNI3K_TYR |
0.720 | -0.075 | 1 | 0.108 |
ABL1 |
0.720 | -0.120 | -1 | 0.849 |
BLK |
0.720 | -0.058 | -1 | 0.885 |
LCK |
0.720 | -0.085 | -1 | 0.872 |
TNK1 |
0.719 | -0.092 | 3 | 0.843 |
HCK |
0.719 | -0.126 | -1 | 0.867 |
PDGFRB |
0.718 | -0.180 | 3 | 0.874 |
KIT |
0.718 | -0.117 | 3 | 0.852 |
KDR |
0.718 | -0.085 | 3 | 0.826 |
EPHB1 |
0.717 | -0.153 | 1 | 0.050 |
FER |
0.717 | -0.182 | 1 | 0.068 |
YANK3 |
0.716 | -0.089 | 2 | 0.409 |
TNK2 |
0.716 | -0.129 | 3 | 0.834 |
EPHA4 |
0.716 | -0.098 | 2 | 0.775 |
EPHB2 |
0.715 | -0.131 | -1 | 0.862 |
ITK |
0.715 | -0.145 | -1 | 0.836 |
FGR |
0.714 | -0.195 | 1 | 0.057 |
SRMS |
0.714 | -0.170 | 1 | 0.045 |
FGFR3 |
0.713 | -0.046 | 3 | 0.828 |
EPHB3 |
0.713 | -0.158 | -1 | 0.868 |
PDGFRA |
0.713 | -0.198 | 3 | 0.872 |
DDR2 |
0.712 | -0.038 | 3 | 0.814 |
AXL |
0.712 | -0.168 | 3 | 0.847 |
MET |
0.711 | -0.114 | 3 | 0.853 |
TEC |
0.710 | -0.128 | -1 | 0.783 |
ALK |
0.710 | -0.148 | 3 | 0.806 |
FYN |
0.709 | -0.072 | -1 | 0.852 |
MERTK |
0.709 | -0.161 | 3 | 0.837 |
BMX |
0.709 | -0.119 | -1 | 0.755 |
EGFR |
0.708 | -0.091 | 1 | 0.054 |
ERBB2 |
0.708 | -0.152 | 1 | 0.070 |
WEE1_TYR |
0.708 | -0.107 | -1 | 0.775 |
FRK |
0.708 | -0.131 | -1 | 0.886 |
BTK |
0.707 | -0.199 | -1 | 0.794 |
EPHA7 |
0.707 | -0.127 | 2 | 0.781 |
FLT4 |
0.707 | -0.134 | 3 | 0.802 |
INSR |
0.706 | -0.146 | 3 | 0.798 |
FLT1 |
0.706 | -0.132 | -1 | 0.880 |
LTK |
0.705 | -0.165 | 3 | 0.812 |
NTRK2 |
0.705 | -0.186 | 3 | 0.826 |
NTRK1 |
0.705 | -0.199 | -1 | 0.846 |
CK1A |
0.704 | -0.090 | -3 | 0.378 |
EPHA1 |
0.703 | -0.165 | 3 | 0.836 |
LYN |
0.702 | -0.126 | 3 | 0.774 |
PTK2B |
0.702 | -0.106 | -1 | 0.818 |
NTRK3 |
0.701 | -0.153 | -1 | 0.797 |
MUSK |
0.701 | -0.129 | 1 | 0.037 |
EPHA3 |
0.701 | -0.151 | 2 | 0.751 |
SRC |
0.701 | -0.106 | -1 | 0.852 |
EPHA8 |
0.700 | -0.106 | -1 | 0.865 |
FGFR4 |
0.700 | -0.090 | -1 | 0.810 |
EPHA5 |
0.697 | -0.138 | 2 | 0.764 |
PTK6 |
0.697 | -0.222 | -1 | 0.760 |
MATK |
0.697 | -0.109 | -1 | 0.786 |
PTK2 |
0.695 | -0.058 | -1 | 0.836 |
CSK |
0.695 | -0.146 | 2 | 0.785 |
ERBB4 |
0.694 | -0.082 | 1 | 0.052 |
IGF1R |
0.691 | -0.131 | 3 | 0.739 |
SYK |
0.691 | -0.090 | -1 | 0.824 |
EPHA2 |
0.690 | -0.122 | -1 | 0.822 |
CK1G3 |
0.685 | -0.090 | -3 | 0.327 |
YANK2 |
0.681 | -0.110 | 2 | 0.427 |
FES |
0.677 | -0.137 | -1 | 0.739 |
ZAP70 |
0.673 | -0.083 | -1 | 0.740 |
CK1G2 |
0.665 | -0.089 | -3 | 0.428 |