Motif 650 (n=239)

Position-wise Probabilities

Download
uniprot genes site source protein function
A8CG34 POM121C S442 ochoa Nuclear envelope pore membrane protein POM 121C (Nuclear pore membrane protein 121-2) (POM121-2) (Pore membrane protein of 121 kDa C) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
A8CG34 POM121C S443 ochoa Nuclear envelope pore membrane protein POM 121C (Nuclear pore membrane protein 121-2) (POM121-2) (Pore membrane protein of 121 kDa C) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
A8CG34 POM121C S444 ochoa Nuclear envelope pore membrane protein POM 121C (Nuclear pore membrane protein 121-2) (POM121-2) (Pore membrane protein of 121 kDa C) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
C4P0D8 TSNAX-DISC1 S33 ochoa Disrupted in schizophrenia 1 isoform 51 (TSNAX-DISC1 readthrough (NMD candidate)) None
O14578 CIT S400 ochoa Citron Rho-interacting kinase (CRIK) (EC 2.7.11.1) (Serine/threonine-protein kinase 21) Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2. {ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:16431929, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:27453578}.
O14617 AP3D1 S1071 ochoa AP-3 complex subunit delta-1 (AP-3 complex subunit delta) (Adaptor-related protein complex 3 subunit delta-1) (Delta-adaptin) Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). 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 (By similarity). {ECO:0000250|UniProtKB:O54774, ECO:0000269|PubMed:26744459}.
O14646 CHD1 S1540 ochoa Chromodomain-helicase-DNA-binding protein 1 (CHD-1) (EC 3.6.4.-) (ATP-dependent helicase CHD1) ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity). {ECO:0000250|UniProtKB:P40201, ECO:0000269|PubMed:18042460, ECO:0000269|PubMed:28866611}.
O14745 NHERF1 S340 psp Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (NHERF-1) (Ezrin-radixin-moesin-binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium-hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory factor 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 recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa. {ECO:0000250, ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102, ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9430655}.
O15037 KHNYN S459 ochoa Protein KHNYN (KH and NYN domain-containing protein) None
O15350 TP73 S48 psp Tumor protein p73 (p53-like transcription factor) (p53-related protein) Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein. Is an activator of FOXJ1 expression (By similarity). It is an essential factor for the positive regulation of lung ciliated cell differentiation (PubMed:34077761). {ECO:0000250|UniProtKB:Q9JJP2, ECO:0000269|PubMed:10203277, ECO:0000269|PubMed:11753569, ECO:0000269|PubMed:18174154, ECO:0000269|PubMed:34077761}.
O43148 RNMT S71 ochoa mRNA cap guanine-N(7) methyltransferase (EC 2.1.1.56) (RG7MT1) (mRNA (guanine-N(7))-methyltransferase) (mRNA cap methyltransferase) (hCMT1) (hMet) (hcm1p) Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:10347220, PubMed:11114884, PubMed:22099306, PubMed:27422871, PubMed:9705270, PubMed:9790902). Binds RNA containing 5'-terminal GpppC (PubMed:11114884). {ECO:0000269|PubMed:10347220, ECO:0000269|PubMed:11114884, ECO:0000269|PubMed:22099306, ECO:0000269|PubMed:27422871, ECO:0000269|PubMed:9705270, ECO:0000269|PubMed:9790902}.
O43149 ZZEF1 S2444 ochoa Zinc finger ZZ-type and EF-hand domain-containing protein 1 Histone H3 reader which may act as a transcriptional coactivator for KLF6 and KLF9 transcription factors. {ECO:0000269|PubMed:33227311}.
O43248 HOXC11 S211 ochoa Homeobox protein Hox-C11 (Homeobox protein Hox-3H) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene.
O43290 SART1 S761 ochoa U4/U6.U5 tri-snRNP-associated protein 1 (SNU66 homolog) (hSnu66) (Squamous cell carcinoma antigen recognized by T-cells 1) (SART-1) (hSART-1) (U4/U6.U5 tri-snRNP-associated 110 kDa protein) (allergen Hom s 1) Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA. {ECO:0000269|PubMed:11350945, ECO:0000269|PubMed:25092792}.
O43390 HNRNPR S23 ochoa Heterogeneous nuclear ribonucleoprotein R (hnRNP R) Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.
O43493 TGOLN2 S352 ochoa Trans-Golgi network integral membrane protein 2 (Trans-Golgi network glycoprotein 46) (TGN38 homolog) (hTGN46) (Trans-Golgi network glycoprotein 48) (hTGN48) (Trans-Golgi network glycoprotein 51) (hTGN51) (Trans-Golgi network protein 2) May be involved in regulating membrane traffic to and from trans-Golgi network.
O43715 TRIAP1 S33 ochoa TP53-regulated inhibitor of apoptosis 1 (Protein 15E1.1) (WF-1) (p53-inducible cell-survival factor) (p53CSV) Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003). {ECO:0000269|PubMed:15735003, ECO:0000269|PubMed:23931759, ECO:0000269|PubMed:26071602}.
O60271 SPAG9 S388 ochoa C-Jun-amino-terminal kinase-interacting protein 4 (JIP-4) (JNK-interacting protein 4) (Cancer/testis antigen 89) (CT89) (Human lung cancer oncogene 6 protein) (HLC-6) (JNK-associated leucine-zipper protein) (JLP) (Mitogen-activated protein kinase 8-interacting protein 4) (Proliferation-inducing protein 6) (Protein highly expressed in testis) (PHET) (Sperm surface protein) (Sperm-associated antigen 9) (Sperm-specific protein) (Sunday driver 1) The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:14743216). Regulates lysosomal positioning by acting as an adapter protein which links PIP4P1-positive lysosomes to the dynein-dynactin complex (PubMed:29146937). Assists PIKFYVE selective functionality in microtubule-based endosome-to-TGN trafficking (By similarity). {ECO:0000250|UniProtKB:Q58A65, ECO:0000269|PubMed:14743216, ECO:0000269|PubMed:29146937}.
O60279 SUSD5 S241 ochoa Sushi domain-containing protein 5 None
O60664 PLIN3 S375 ochoa Perilipin-3 (47 kDa mannose 6-phosphate receptor-binding protein) (47 kDa MPR-binding protein) (Cargo selection protein TIP47) (Mannose-6-phosphate receptor-binding protein 1) (Placental protein 17) (PP17) Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets (PubMed:34077757). Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network (PubMed:9590177). {ECO:0000269|PubMed:34077757, ECO:0000269|PubMed:9590177}.
O75044 SRGAP2 S796 ochoa SLIT-ROBO Rho GTPase-activating protein 2 (srGAP2) (Formin-binding protein 2) (Rho GTPase-activating protein 34) Postsynaptic RAC1 GTPase activating protein (GAP) that plays a key role in neuronal morphogenesis and migration mainly during development of the cerebral cortex (PubMed:20810653, PubMed:27373832, PubMed:28333212). Regulates excitatory and inhibitory synapse maturation and density in cortical pyramidal neurons (PubMed:22559944, PubMed:27373832). SRGAP2/SRGAP2A limits excitatory and inhibitory synapse density through its RAC1-specific GTPase activating activity, while it promotes maturation of both excitatory and inhibitory synapses through its ability to bind to the postsynaptic scaffolding protein HOMER1 at excitatory synapses, and the postsynaptic protein GPHN at inhibitory synapses (By similarity). Mechanistically, acts by binding and deforming membranes, thereby regulating actin dynamics to regulate cell migration and differentiation (PubMed:27373832). Promotes cell repulsion and contact inhibition of locomotion: localizes to protrusions with curved edges and controls the duration of RAC1 activity in contact protrusions (By similarity). In non-neuronal cells, may also play a role in cell migration by regulating the formation of lamellipodia and filopodia (PubMed:20810653, PubMed:21148482). {ECO:0000250|UniProtKB:Q91Z67, ECO:0000269|PubMed:20810653, ECO:0000269|PubMed:21148482, ECO:0000269|PubMed:22559944, ECO:0000269|PubMed:27373832, ECO:0000269|PubMed:28333212}.
O75494 SRSF10 S108 ochoa Serine/arginine-rich splicing factor 10 (40 kDa SR-repressor protein) (SRrp40) (FUS-interacting serine-arginine-rich protein 1) (Splicing factor SRp38) (Splicing factor, arginine/serine-rich 13A) (TLS-associated protein with Ser-Arg repeats) (TASR) (TLS-associated protein with SR repeats) (TLS-associated serine-arginine protein) (TLS-associated SR protein) Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing (PubMed:11684676, PubMed:12419250, PubMed:14765198). Seems to interfere with the U1 snRNP 5'-splice recognition of SNRNP70 (PubMed:14765198). Required for splicing repression in M-phase cells and after heat shock (PubMed:14765198). Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May be involved in regulation of alternative splicing in neurons, with isoform 1 acting as a positive and isoform 3 as a negative regulator (PubMed:12419250). {ECO:0000269|PubMed:11684676, ECO:0000269|PubMed:12419250, ECO:0000269|PubMed:14765198, ECO:0000269|PubMed:26876937}.
O75533 SF3B1 S72 ochoa Splicing factor 3B subunit 1 (Pre-mRNA-splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome-associated protein 155) (SAP 155) Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). {ECO:0000250|UniProtKB:Q99NB9, ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:32494006, ECO:0000269|PubMed:33509932, ECO:0000269|PubMed:34822310}.
O75937 DNAJC8 S52 ochoa DnaJ homolog subfamily C member 8 (Splicing protein spf31) Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells (PubMed:27133716). {ECO:0000269|PubMed:27133716}.
O95071 UBR5 S1702 ochoa E3 ubiquitin-protein ligase UBR5 (EC 2.3.2.26) (E3 ubiquitin-protein ligase, HECT domain-containing 1) (Hyperplastic discs protein homolog) (hHYD) (Progestin-induced protein) E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus (PubMed:29033132, PubMed:33208877, PubMed:37478846, PubMed:37478862). Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates (PubMed:29033132, PubMed:37409633). 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 (By similarity). Recognizes type-1 N-degrons, containing positively charged amino acids (Arg, Lys and His) (By similarity). Together with UBR4, 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: UBR5 is probably branching multiple 'Lys-48'-linked chains of substrates initially modified with mixed conjugates by UBR4 (PubMed:29033132). Together with ITCH, catalyzes 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP, leading to its degradation: UBR5 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by ITCH (PubMed:29378950). Catalytic component of a nuclear protein quality control pathway that mediates ubiquitination and degradation of unpaired transcription factors (i.e. transcription factors that are not assembled into functional multiprotein complexes): specifically recognizes and binds degrons that are not accessible when transcription regulators are associated with their coactivators (PubMed:37478846, PubMed:37478862). Ubiquitinates various unpaired transcription regulator (MYC, SUPT4H1, SUPT5H, CDC20 and MCRS1), as well as ligand-bound nuclear receptors (ESR1, NR1H3, NR3C1, PGR, RARA, RXRA AND VDR) that are not associated with their nuclear receptor coactivators (NCOAs) (PubMed:33208877, PubMed:37478846, PubMed:37478862). Involved in maturation and/or transcriptional regulation of mRNA by mediating polyubiquitination and activation of CDK9 (PubMed:21127351). Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (PubMed:22884692). Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response (PubMed:11714696). Ubiquitinates acetylated PCK1 (PubMed:21726808). Acts as a positive regulator of the canonical Wnt signaling pathway by mediating (1) ubiquitination and stabilization of CTNNB1, and (2) 'Lys-48'-linked ubiquitination and degradation of TLE3 (PubMed:21118991, PubMed:28689657). Promotes disassembly of the mitotic checkpoint complex (MCC) from the APC/C complex by catalyzing ubiquitination of BUB1B, BUB3 and CDC20 (PubMed:35217622). Plays an essential role in extraembryonic development (By similarity). Required for the maintenance of skeletal tissue homeostasis by acting as an inhibitor of hedgehog (HH) signaling (By similarity). {ECO:0000250|UniProtKB:Q80TP3, ECO:0000269|PubMed:11714696, ECO:0000269|PubMed:21118991, ECO:0000269|PubMed:21127351, ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:22884692, ECO:0000269|PubMed:28689657, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:29378950, ECO:0000269|PubMed:33208877, ECO:0000269|PubMed:35217622, ECO:0000269|PubMed:37409633, ECO:0000269|PubMed:37478846, ECO:0000269|PubMed:37478862}.
O95071 UBR5 S2484 ochoa E3 ubiquitin-protein ligase UBR5 (EC 2.3.2.26) (E3 ubiquitin-protein ligase, HECT domain-containing 1) (Hyperplastic discs protein homolog) (hHYD) (Progestin-induced protein) E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus (PubMed:29033132, PubMed:33208877, PubMed:37478846, PubMed:37478862). Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates (PubMed:29033132, PubMed:37409633). 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 (By similarity). Recognizes type-1 N-degrons, containing positively charged amino acids (Arg, Lys and His) (By similarity). Together with UBR4, 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: UBR5 is probably branching multiple 'Lys-48'-linked chains of substrates initially modified with mixed conjugates by UBR4 (PubMed:29033132). Together with ITCH, catalyzes 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP, leading to its degradation: UBR5 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by ITCH (PubMed:29378950). Catalytic component of a nuclear protein quality control pathway that mediates ubiquitination and degradation of unpaired transcription factors (i.e. transcription factors that are not assembled into functional multiprotein complexes): specifically recognizes and binds degrons that are not accessible when transcription regulators are associated with their coactivators (PubMed:37478846, PubMed:37478862). Ubiquitinates various unpaired transcription regulator (MYC, SUPT4H1, SUPT5H, CDC20 and MCRS1), as well as ligand-bound nuclear receptors (ESR1, NR1H3, NR3C1, PGR, RARA, RXRA AND VDR) that are not associated with their nuclear receptor coactivators (NCOAs) (PubMed:33208877, PubMed:37478846, PubMed:37478862). Involved in maturation and/or transcriptional regulation of mRNA by mediating polyubiquitination and activation of CDK9 (PubMed:21127351). Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (PubMed:22884692). Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response (PubMed:11714696). Ubiquitinates acetylated PCK1 (PubMed:21726808). Acts as a positive regulator of the canonical Wnt signaling pathway by mediating (1) ubiquitination and stabilization of CTNNB1, and (2) 'Lys-48'-linked ubiquitination and degradation of TLE3 (PubMed:21118991, PubMed:28689657). Promotes disassembly of the mitotic checkpoint complex (MCC) from the APC/C complex by catalyzing ubiquitination of BUB1B, BUB3 and CDC20 (PubMed:35217622). Plays an essential role in extraembryonic development (By similarity). Required for the maintenance of skeletal tissue homeostasis by acting as an inhibitor of hedgehog (HH) signaling (By similarity). {ECO:0000250|UniProtKB:Q80TP3, ECO:0000269|PubMed:11714696, ECO:0000269|PubMed:21118991, ECO:0000269|PubMed:21127351, ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:22884692, ECO:0000269|PubMed:28689657, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:29378950, ECO:0000269|PubMed:33208877, ECO:0000269|PubMed:35217622, ECO:0000269|PubMed:37409633, ECO:0000269|PubMed:37478846, ECO:0000269|PubMed:37478862}.
O95359 TACC2 S2534 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}.
O95400 CD2BP2 S61 ochoa CD2 antigen cytoplasmic tail-binding protein 2 (CD2 cytoplasmic domain-binding protein 2) (CD2 tail-binding protein 2) (U5 snRNP 52K protein) (U5-52K) Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly. {ECO:0000269|PubMed:15840814}.
O95777 LSM8 S48 ochoa U6 snRNA-associated Sm-like protein LSm8 Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:28781166}.
O95816 BAG2 S20 ochoa|psp BAG family molecular chaperone regulator 2 (BAG-2) (Bcl-2-associated athanogene 2) Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016). {ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:9873016}.
P0CG23 ZNF853 S63 ochoa Zinc finger protein 853 None
P11308 ERG S39 psp Transcriptional regulator ERG (Transforming protein ERG) Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.
P12270 TPR S528 ochoa Nucleoprotein TPR (Megator) (NPC-associated intranuclear protein) (Translocated promoter region protein) Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Negatively regulates both the association of CTE-containing mRNA with large polyribosomes and translation initiation. Does not play any role in Rev response element (RRE)-mediated export of unspliced mRNAs. Implicated in nuclear export of mRNAs transcribed from heat shock gene promoters; associates both with chromatin in the HSP70 promoter and with mRNAs transcribed from this promoter under stress-induced conditions. Modulates the nucleocytoplasmic transport of activated MAPK1/ERK2 and huntingtin/HTT and may serve as a docking site for the XPO1/CRM1-mediated nuclear export complex. According to some authors, plays a limited role in the regulation of nuclear protein export (PubMed:11952838, PubMed:22253824). Also plays a role as a structural and functional element of the perinuclear chromatin distribution; involved in the formation and/or maintenance of NPC-associated perinuclear heterochromatin exclusion zones (HEZs). Finally, acts as a spatial regulator of the spindle-assembly checkpoint (SAC) response ensuring a timely and effective recruitment of spindle checkpoint proteins like MAD1L1 and MAD2L1 to unattached kinetochore during the metaphase-anaphase transition before chromosome congression. Its N-terminus is involved in activation of oncogenic kinases. {ECO:0000269|PubMed:11952838, ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:17897941, ECO:0000269|PubMed:18794356, ECO:0000269|PubMed:18981471, ECO:0000269|PubMed:19273613, ECO:0000269|PubMed:20133940, ECO:0000269|PubMed:20407419, ECO:0000269|PubMed:21613532, ECO:0000269|PubMed:22253824, ECO:0000269|PubMed:9864356}.
P15408 FOSL2 S235 ochoa Fos-related antigen 2 (FRA-2) Controls osteoclast survival and size (By similarity). As a dimer with JUN, activates LIF transcription (By similarity). Activates CEBPB transcription in PGE2-activated osteoblasts (By similarity). {ECO:0000250|UniProtKB:P47930, ECO:0000250|UniProtKB:P51145}.
P16989 YBX3 S204 ochoa Y-box-binding protein 3 (Cold shock domain-containing protein A) (DNA-binding protein A) (Single-strand DNA-binding protein NF-GMB) Binds to the GM-CSF promoter. Seems to act as a repressor. Also binds to full-length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity). {ECO:0000250}.
P17844 DDX5 S520 ochoa Probable ATP-dependent RNA helicase DDX5 (EC 3.6.4.13) (DEAD box protein 5) (RNA helicase p68) Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as a transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms. {ECO:0000269|PubMed:12527917, ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:15660129, ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17960593, ECO:0000269|PubMed:18829551, ECO:0000269|PubMed:19718048, ECO:0000269|PubMed:21343338}.
P19447 ERCC3 S233 ochoa General transcription and DNA repair factor IIH helicase/translocase subunit XPB (TFIIH subunit XPB) (EC 5.6.2.4) (Basic transcription factor 2 89 kDa subunit) (BTF2 p89) (DNA 3'-5' helicase/translocase XPB) (DNA excision repair protein ERCC-3) (DNA repair protein complementing XP-B cells) (TFIIH basal transcription factor complex 89 kDa subunit) (TFIIH 89 kDa subunit) (TFIIH p89) (Xeroderma pigmentosum group B-complementing protein) ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:27193682, PubMed:33902107). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex (PubMed:10024882, PubMed:17466626, PubMed:8157004, PubMed:8465201). When complexed to CDK-activating kinase (CAK), involved in RNA transcription by RNA polymerase II. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening; it may wrap around the damaged DNA wedging it open, causing localized melting that allows XPD/ERCC2 helicase to anchor (PubMed:10024882, PubMed:17466626). In transcription, TFIIH has an essential role in transcription initiation (PubMed:30894545, PubMed:8157004). When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape (PubMed:8157004). The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape (PubMed:10024882). In transcription pre-initiation complexes induces and propagates a DNA twist to open DNA (PubMed:27193682, PubMed:33902107). Also involved in transcription-coupled nucleotide excision repair (NER) of damaged DNA (PubMed:17466626, PubMed:2111438, PubMed:8157004). In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA (PubMed:31253769, PubMed:33902107). XPA retains XPB/ERCC3 at the 5' end of a DNA bubble (mimicking DNA damage) (PubMed:31253769). {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:17466626, ECO:0000269|PubMed:30894545, ECO:0000269|PubMed:31253769, ECO:0000269|PubMed:33902107, ECO:0000269|PubMed:7724549, ECO:0000269|PubMed:8157004, ECO:0000269|PubMed:8663148, ECO:0000305|PubMed:8465201}.
P21796 VDAC1 S44 ochoa Non-selective voltage-gated ion channel VDAC1 (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) (Voltage-dependent anion-selective channel protein 1) (VDAC-1) (hVDAC1) Non-selective voltage-gated ion channel that mediates the transport of anions and cations through the mitochondrion outer membrane and plasma membrane (PubMed:10661876, PubMed:11845315, PubMed:18755977, PubMed:30061676, PubMed:8420959). The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis (PubMed:10661876, PubMed:11845315, PubMed:18755977, PubMed:8420959). It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV (PubMed:10661876, PubMed:18755977, PubMed:8420959). The open state has a weak anion selectivity whereas the closed state is cation-selective (PubMed:18755977, PubMed:8420959). Binds various signaling molecules, including the sphingolipid ceramide, the phospholipid phosphatidylcholine, and the sterols cholesterol and oxysterol (PubMed:18755977, PubMed:31015432). In depolarized mitochondria, acts downstream of PRKN and PINK1 to promote mitophagy or prevent apoptosis; polyubiquitination by PRKN promotes mitophagy, while monoubiquitination by PRKN decreases mitochondrial calcium influx which ultimately inhibits apoptosis (PubMed:32047033). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed:15033708, PubMed:25296756). May mediate ATP export from cells (PubMed:30061676). Part of a complex composed of HSPA9, ITPR1 and VDAC1 that regulates mitochondrial calcium-dependent apoptosis by facilitating calcium transport from the ER lumen to the mitochondria intermembrane space thus providing calcium for the downstream calcium channel MCU that directly releases it into mitochondria matrix (By similarity). Mediates cytochrome c efflux (PubMed:20230784). {ECO:0000250|UniProtKB:Q60932, ECO:0000269|PubMed:10661876, ECO:0000269|PubMed:11845315, ECO:0000269|PubMed:15033708, ECO:0000269|PubMed:18755977, ECO:0000269|PubMed:20230784, ECO:0000269|PubMed:25296756, ECO:0000269|PubMed:30061676, ECO:0000269|PubMed:31015432, ECO:0000269|PubMed:32047033, ECO:0000269|PubMed:8420959}.; FUNCTION: Catalyzes the scrambling of phospholipids across the outer mitochondrial membrane; the mechanism is unrelated to channel activity and is capable of translocating both anionic and zwitterionic phospholipids. {ECO:0000269|PubMed:38065946}.
P22681 CBL S704 ochoa E3 ubiquitin-protein ligase CBL (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene) (Proto-oncogene c-Cbl) (RING finger protein 55) (RING-type E3 ubiquitin transferase CBL) (Signal transduction protein CBL) E3 ubiquitin-protein ligase that acts as a negative regulator of many signaling pathways by mediating ubiquitination of cell surface receptors (PubMed:10514377, PubMed:11896602, PubMed:14661060, PubMed:14739300, PubMed:15190072, PubMed:17509076, PubMed:18374639, PubMed:19689429, PubMed:21596750, PubMed:28381567). Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome (PubMed:10514377, PubMed:14661060, PubMed:14739300, PubMed:17094949, PubMed:17509076, PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signaling (PubMed:15190072, PubMed:18374639, PubMed:21596750). Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation (PubMed:11896602). Ubiquitinates EGFR and SPRY2 (PubMed:17094949, PubMed:17974561). Ubiquitinates NECTIN1 following association between NECTIN1 and herpes simplex virus 1/HHV-1 envelope glycoprotein D, leading to NECTIN1 removal from cell surface (PubMed:28381567). Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis (PubMed:15190072, PubMed:18374639). Essential for osteoclastic bone resorption (PubMed:14739300). The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function (PubMed:14739300). May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity). {ECO:0000250|UniProtKB:P22682, ECO:0000269|PubMed:10514377, ECO:0000269|PubMed:11896602, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:14739300, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:17094949, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17974561, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19689429, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:28381567}.
P23327 HRC S171 ochoa Sarcoplasmic reticulum histidine-rich calcium-binding protein May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.
P23588 EIF4B S589 ochoa Eukaryotic translation initiation factor 4B (eIF-4B) Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'-terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F.
P26045 PTPN3 S395 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.
P29590 PML S562 ochoa|psp Protein PML (E3 SUMO-protein ligase PML) (EC 2.3.2.-) (Promyelocytic leukemia protein) (RING finger protein 71) (RING-type E3 SUMO transferase PML) (Tripartite motif-containing protein 19) (TRIM19) Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Inhibits EIF4E-mediated mRNA nuclear export by reducing EIF4E affinity for the 5' 7-methylguanosine (m7G) cap of target mRNAs (PubMed:11500381, PubMed:11575918, PubMed:18391071). Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus. Isoform PML-2 is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF-alpha- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration. {ECO:0000269|PubMed:11500381, ECO:0000269|PubMed:11575918, ECO:0000269|PubMed:18391071}.; FUNCTION: Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures. Isoform PML-4 restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm. Isoform PML-6 shows restriction activity towards human cytomegalovirus (HHV-5) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Isoform PML-3 exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs. Isoform PML-3 represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription. Functions as an E3 SUMO-protein ligase that sumoylates (HHV-5) immediate early protein IE1, thereby participating in the antiviral response (PubMed:20972456, PubMed:28250117). Isoforms PML-3 and PML-6 display the highest levels of sumoylation activity (PubMed:20972456, PubMed:28250117). {ECO:0000269|PubMed:20972456, ECO:0000269|PubMed:28250117}.
P30622 CLIP1 S1304 ochoa CAP-Gly domain-containing linker protein 1 (Cytoplasmic linker protein 1) (Cytoplasmic linker protein 170 alpha-2) (CLIP-170) (Reed-Sternberg intermediate filament-associated protein) (Restin) Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking. {ECO:0000269|PubMed:12433698, ECO:0000269|PubMed:17563362, ECO:0000269|PubMed:17889670}.
P32418 SLC8A1 S285 ochoa Sodium/calcium exchanger 1 (Na(+)/Ca(2+)-exchange protein 1) (Solute carrier family 8 member 1) Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:11241183, PubMed:1374913, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle (PubMed:11241183, PubMed:1374913, PubMed:1476165). In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11241183, PubMed:1374913, PubMed:1476165). SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline (PubMed:11241183, PubMed:1374913, PubMed:1476165). Required for normal embryonic heart development and the onset of heart contractions (By similarity). {ECO:0000250|UniProtKB:P70414, ECO:0000269|PubMed:11241183, ECO:0000269|PubMed:1374913, ECO:0000269|PubMed:1476165}.
P32926 DSG3 S971 ochoa Desmoglein-3 (130 kDa pemphigus vulgaris antigen) (PVA) (Cadherin family member 6) A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:31835537). Required for adherens and desmosome junction assembly in response to mechanical force in keratinocytes (PubMed:31835537). Required for desmosome-mediated cell-cell adhesion of cells surrounding the telogen hair club and the basal layer of the outer root sheath epithelium, consequently is essential for the anchoring of telogen hairs in the hair follicle (PubMed:9701552). Required for the maintenance of the epithelial barrier via promoting desmosome-mediated intercellular attachment of suprabasal epithelium to basal cells (By similarity). May play a role in the protein stability of the desmosome plaque components DSP, JUP, PKP1, PKP2 and PKP3 (PubMed:22294297). Required for YAP1 localization at the plasma membrane in keratinocytes in response to mechanical strain, via the formation of an interaction complex composed of DSG3, PKP1 and YWHAG (PubMed:31835537). May also be involved in the positive regulation of YAP1 target gene transcription and as a result cell proliferation (PubMed:31835537). Positively regulates cellular contractility and cell junction formation via organization of cortical F-actin bundles and anchoring of actin to tight junctions, in conjunction with RAC1 (PubMed:22796473). The cytoplasmic pool of DSG3 is required for the localization of CDH1 and CTNNB1 at developing adherens junctions, potentially via modulation of SRC activity (PubMed:22294297). Inhibits keratinocyte migration via suppression of p38MAPK signaling, may therefore play a role in moderating wound healing (PubMed:26763450). {ECO:0000250|UniProtKB:O35902, ECO:0000269|PubMed:22294297, ECO:0000269|PubMed:22796473, ECO:0000269|PubMed:26763450, ECO:0000269|PubMed:31835537, ECO:0000269|PubMed:9701552}.
P35749 MYH11 S1720 ochoa Myosin-11 (Myosin heavy chain 11) (Myosin heavy chain, smooth muscle isoform) (SMMHC) Muscle contraction.
P37059 HSD17B2 S235 ochoa 17-beta-hydroxysteroid dehydrogenase type 2 (17-beta-HSD 2) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Estradiol 17-beta-dehydrogenase 2) (EC 1.1.1.62) (Microsomal 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reductase family 9C member 2) (Testosterone 17-beta-dehydrogenase) (EC 1.1.1.239) Catalyzes the NAD-dependent oxidation of the highly active 17beta-hydroxysteroids, such as estradiol (E2), testosterone (T), and dihydrotestosterone (DHT), to their less active forms and thus regulates the biological potency of these steroids. Oxidizes estradiol to estrone, testosterone to androstenedione, and dihydrotestosterone to 5alpha-androstan-3,17-dione. Also has 20-alpha-HSD activity. {ECO:0000269|PubMed:10385431, ECO:0000269|PubMed:11940569, ECO:0000269|PubMed:8099587}.
P38398 BRCA1 S426 ochoa Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1) E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.
P38646 HSPA9 S639 ochoa Stress-70 protein, mitochondrial (EC 3.6.4.10) (75 kDa glucose-regulated protein) (GRP-75) (Heat shock 70 kDa protein 9) (Heat shock protein family A member 9) (Mortalin) (MOT) (Peptide-binding protein 74) (PBP74) Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Plays an essential role in the protein quality control system, the correct folding of proteins, the re-folding of misfolded proteins, and the targeting of proteins for subsequent degradation. These processes are achieved through cycles of ATP binding, ATP hydrolysis, and ADP release, mediated by co-chaperones (PubMed:18632665, PubMed:25615450, PubMed:28848044, PubMed:30933555, PubMed:31177526). In mitochondria, it associates with the TIM (translocase of the inner membrane) protein complex to assist in the import and folding of mitochondrial proteins (By similarity). Plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis, interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). Regulates mitochondrial calcium-dependent apoptosis by coupling two calcium channels, ITPR1 and VDAC1, at the mitochondria-associated endoplasmic reticulum (ER) membrane to facilitate calcium transport from the ER lumen to the mitochondria intermembrane space, providing calcium for the downstream calcium channel MCU, which releases it into the mitochondrial matrix (By similarity). Although primarily located in the mitochondria, it is also found in other cellular compartments. In the cytosol, it associates with proteins involved in signaling, apoptosis, or senescence. It may play a role in cell cycle regulation via its interaction with and promotion of degradation of TP53 (PubMed:24625977, PubMed:26634371). May play a role in the control of cell proliferation and cellular aging (By similarity). Protects against reactive oxygen species (ROS) (By similarity). Extracellular HSPA9 plays a cytoprotective role by preventing cell lysis following immune attack by the membrane attack complex by disrupting formation of the complex (PubMed:16091382). {ECO:0000250|UniProtKB:P0CS90, ECO:0000250|UniProtKB:P38647, ECO:0000269|PubMed:16091382, ECO:0000269|PubMed:18632665, ECO:0000269|PubMed:21123823, ECO:0000269|PubMed:24625977, ECO:0000269|PubMed:25615450, ECO:0000269|PubMed:26634371, ECO:0000269|PubMed:26702583, ECO:0000269|PubMed:28848044, ECO:0000269|PubMed:30933555, ECO:0000269|PubMed:31177526}.
P41091 EIF2S3 S108 ochoa Eukaryotic translation initiation factor 2 subunit 3 (EC 3.6.5.3) (Eukaryotic translation initiation factor 2 subunit gamma X) (eIF2-gamma X) (eIF2gX) Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S pre-initiation complex (43S PIC) (By similarity). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex (By similarity). In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (By similarity). {ECO:0000250|UniProtKB:P05198, ECO:0000269|PubMed:31836389}.
P42566 EPS15 S606 ochoa Epidermal growth factor receptor substrate 15 (Protein Eps15) (Protein AF-1p) Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269|PubMed:16903783, ECO:0000269|PubMed:18362181, ECO:0000269|PubMed:19458185, ECO:0000269|PubMed:22648170}.
P42684 ABL2 S72 ochoa Tyrosine-protein kinase ABL2 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 2) (Abelson tyrosine-protein kinase 2) (Abelson-related gene protein) (Tyrosine-protein kinase ARG) Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 also acts as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). {ECO:0000250|UniProtKB:Q4JIM5, ECO:0000269|PubMed:15735735, ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:18945674}.
P42858 HTT S464 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}.
P43121 MCAM S628 ochoa Cell surface glycoprotein MUC18 (Cell surface glycoprotein P1H12) (Melanoma cell adhesion molecule) (Melanoma-associated antigen A32) (Melanoma-associated antigen MUC18) (S-endo 1 endothelial-associated antigen) (CD antigen CD146) Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as a surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration. {ECO:0000269|PubMed:11036077, ECO:0000269|PubMed:8292890}.
P48444 ARCN1 S253 ochoa Coatomer subunit delta (Archain) (Delta-coat protein) (Delta-COP) Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). {ECO:0000250}.
P50851 LRBA S2065 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}.
P55081 MFAP1 S82 ochoa Microfibrillar-associated protein 1 (Spliceosome B complex protein MFAP1) Involved in pre-mRNA splicing as a component of the spliceosome. {ECO:0000269|PubMed:28781166}.
P57768 SNX16 S299 ochoa Sorting nexin-16 May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm. {ECO:0000269|PubMed:12813048, ECO:0000269|PubMed:15951806}.
P61247 RPS3A S238 ochoa Small ribosomal subunit protein eS1 (40S ribosomal protein S3a) (v-fos transformation effector protein) (Fte-1) Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). May play a role during erythropoiesis through regulation of transcription factor DDIT3 (By similarity). {ECO:0000255|HAMAP-Rule:MF_03122, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:34516797}.
P62857 RPS28 S41 ochoa Small ribosomal subunit protein eS28 (40S ribosomal protein S28) Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000269|PubMed:34516797}.
P78559 MAP1A S118 ochoa Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2] Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
P78559 MAP1A S119 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.
P82094 TMF1 S170 ochoa TATA element modulatory factor (TMF) (Androgen receptor coactivator 160 kDa protein) (Androgen receptor-associated protein of 160 kDa) Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP). {ECO:0000269|PubMed:10428808, ECO:0000269|PubMed:1409643, ECO:0000269|PubMed:15467733, ECO:0000269|PubMed:17698061}.
P82094 TMF1 S928 ochoa TATA element modulatory factor (TMF) (Androgen receptor coactivator 160 kDa protein) (Androgen receptor-associated protein of 160 kDa) Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP). {ECO:0000269|PubMed:10428808, ECO:0000269|PubMed:1409643, ECO:0000269|PubMed:15467733, ECO:0000269|PubMed:17698061}.
Q02952 AKAP12 S887 ochoa A-kinase anchor protein 12 (AKAP-12) (A-kinase anchor protein 250 kDa) (AKAP 250) (Gravin) (Myasthenia gravis autoantigen) Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).
Q03014 HHEX S214 ochoa 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}.
Q03164 KMT2A S2651 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}.
Q03188 CENPC S557 ochoa Centromere protein C (CENP-C) (Centromere autoantigen C) (Centromere protein C 1) (CENP-C 1) (Interphase centromere complex protein 7) Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions. {ECO:0000269|PubMed:19482874, ECO:0000269|PubMed:21529714}.
Q04721 NOTCH2 S1855 ochoa Neurogenic locus notch homolog protein 2 (Notch 2) (hN2) [Cleaved into: Notch 2 extracellular truncation (N2ECD); Notch 2 intracellular domain (N2ICD)] Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737). {ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737, ECO:0000269|PubMed:29149593}.
Q07157 TJP1 Y1361 ochoa Tight junction protein 1 (Tight junction protein ZO-1) (Zona occludens protein 1) (Zonula occludens protein 1) TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). Forms a multistranded TJP1/ZO1 condensate which elongates to form a tight junction belt, the belt is anchored at the apical cell membrane via interaction with PATJ (By similarity). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). May play a role in mediating cell morphology changes during ameloblast differentiation via its role in tight junctions (By similarity). {ECO:0000250|UniProtKB:O97758, ECO:0000250|UniProtKB:P39447, ECO:0000269|PubMed:20930113, ECO:0000269|PubMed:21240187}.
Q08378 GOLGA3 S1392 ochoa Golgin subfamily A member 3 (Golgi complex-associated protein of 170 kDa) (GCP170) (Golgin-160) Golgi auto-antigen; probably involved in maintaining Golgi structure.
Q08AE8 SPIRE1 S478 ochoa Protein spire homolog 1 (Spir-1) Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:11747823, PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (PubMed:11747823). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with FMN2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). In addition, promotes innate immune signaling downstream of dsRNA sensing (PubMed:35148361). Mechanistically, contributes to IRF3 phosphorylation and activation downstream of MAVS and upstream of TBK1 (PubMed:35148361). {ECO:0000269|PubMed:11747823, ECO:0000269|PubMed:21620703, ECO:0000269|PubMed:26287480, ECO:0000269|PubMed:35148361}.
Q12824 SMARCB1 S139 ochoa SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (BRG1-associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5) Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. {ECO:0000250|UniProtKB:Q9Z0H3, ECO:0000269|PubMed:10078207, ECO:0000269|PubMed:12226744, ECO:0000269|PubMed:14604992, ECO:0000269|PubMed:16267391, ECO:0000269|PubMed:16314535, ECO:0000269|PubMed:9448295}.
Q12830 BPTF S1616 ochoa Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen) Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:14609955, PubMed:28801535). The NURF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NURF-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NURF-1 ISWI chromatin-remodeling complex, binds to the promoters of En1 and En2 to positively regulate their expression and promote brain development (PubMed:14609955). Histone-binding protein which binds to H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of active genes (PubMed:16728976, PubMed:16728978). Binds to histone H3 tails dimethylated on 'Lys-4' (H3K4Me2) to a lesser extent (PubMed:16728976, PubMed:16728978, PubMed:18042461). May also regulate transcription through direct binding to DNA or transcription factors (PubMed:10575013). {ECO:0000269|PubMed:10575013, ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:16728976, ECO:0000269|PubMed:16728978, ECO:0000269|PubMed:18042461, ECO:0000269|PubMed:28801535}.
Q12888 TP53BP1 S686 ochoa TP53-binding protein 1 (53BP1) (p53-binding protein 1) (p53BP1) Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:17190600, PubMed:21144835, PubMed:22553214, PubMed:23333306, PubMed:27153538, PubMed:28241136, PubMed:31135337, PubMed:37696958). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23333306, PubMed:23727112, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:17190600, PubMed:23760478, PubMed:27153538, PubMed:28241136). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112). {ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:12364621, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:22553214, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23345425, ECO:0000269|PubMed:23727112, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:27153538, ECO:0000269|PubMed:28241136, ECO:0000269|PubMed:31135337, ECO:0000269|PubMed:37696958}.
Q12931 TRAP1 S77 ochoa Heat shock protein 75 kDa, mitochondrial (HSP 75) (Heat shock protein family C member 5) (TNFR-associated protein 1) (Tumor necrosis factor type 1 receptor-associated protein) (TRAP-1) Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA. {ECO:0000269|PubMed:23525905, ECO:0000269|PubMed:23564345, ECO:0000269|PubMed:23747254}.
Q13033 STRN3 S323 ochoa Striatin-3 (Cell cycle autoantigen SG2NA) (S/G2 antigen) Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:30622739, PubMed:33633399). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (Probable). {ECO:0000269|PubMed:18782753, ECO:0000269|PubMed:30622739, ECO:0000269|PubMed:33633399, ECO:0000305|PubMed:26876214}.
Q13435 SF3B2 S303 ochoa Splicing factor 3B subunit 2 (Pre-mRNA-splicing factor SF3b 145 kDa subunit) (SF3b145) (Spliceosome-associated protein 145) (SAP 145) Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B2 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). {ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:32494006, ECO:0000269|PubMed:33509932, ECO:0000269|PubMed:34822310}.
Q13526 PIN1 S43 ochoa Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (EC 5.2.1.8) (Peptidyl-prolyl cis-trans isomerase Pin1) (PPIase Pin1) (Rotamase Pin1) Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs (PubMed:21497122, PubMed:23623683, PubMed:29686383). By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes (PubMed:21497122, PubMed:22033920, PubMed:23623683). Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK (PubMed:16644721). Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation (PubMed:15664191). Binds and targets PML and BCL6 for degradation in a phosphorylation-dependent manner (PubMed:17828269). Acts as a regulator of JNK cascade by binding to phosphorylated FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation: degradation of FBXW7 leads to subsequent stabilization of JUN (PubMed:22608923). May facilitate the ubiquitination and proteasomal degradation of RBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligase complex, hence favors DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:23623683, PubMed:27561354). Upon IL33-induced lung inflammation, catalyzes cis-trans isomerization of phosphorylated IRAK3/IRAK-M, inducing IRAK3 stabilization, nuclear translocation and expression of pro-inflammatory genes in dendritic cells (PubMed:29686383). Catalyzes cis-trans isomerization of phosphorylated phosphoglycerate kinase PGK1 under hypoxic conditions to promote its binding to the TOM complex and targeting to the mitochondrion (PubMed:26942675). {ECO:0000269|PubMed:15664191, ECO:0000269|PubMed:16644721, ECO:0000269|PubMed:17828269, ECO:0000269|PubMed:21497122, ECO:0000269|PubMed:22033920, ECO:0000269|PubMed:22608923, ECO:0000269|PubMed:23623683, ECO:0000269|PubMed:26942675, ECO:0000269|PubMed:27561354, ECO:0000269|PubMed:29686383}.
Q13563 PKD2 S795 ochoa Polycystin-2 (PC2) (Autosomal dominant polycystic kidney disease type II protein) (Polycystic kidney disease 2 protein) (Polycystwin) (R48321) (Transient receptor potential cation channel subfamily P member 2) Forms a nonselective cation channel (PubMed:11854751, PubMed:11991947, PubMed:15692563, PubMed:26269590, PubMed:27071085, PubMed:31441214, PubMed:39009345). Can function as a homotetrameric ion channel or can form heteromer with PKD1 (PubMed:31441214, PubMed:33164752). Displays distinct function depending on its subcellular localization and regulation by its binding partners (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). In primary cilium functions as a cation channel, with a preference for monovalent cations over divalent cations that allows K(+), Na(+) and Ca(2+) influx, with low selectivity for Ca(2+) (PubMed:27071085). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). In the endoplasmic reticulum, likely functions as a K(+) channel to facilitate Ca(2+) release (By similarity). The heterotetrameric PKD1/PKD2 channel has higher Ca(2+) permeability than homomeric PKD2 channel and acts as a primarily Ca(2+)-permeable channel (PubMed:31441214). Interacts with and acts as a regulator of a number of other channels, such as TRPV4, TRPC1, IP3R, RYR2, ultimately further affecting intracellular signaling, to modulate intracellular Ca(2+) signaling (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). In cardiomyocytes, PKD2 modulates Ca(2+) release from stimulated RYR2 receptors through direct association (By similarity). Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning (By similarity). Acts as a regulator of cilium length together with PKD1 (By similarity). Mediates systemic blood pressure and contributes to the myogenic response in cerebral arteries though vasoconstriction (By similarity). {ECO:0000250|UniProtKB:O35245, ECO:0000269|PubMed:11854751, ECO:0000269|PubMed:11991947, ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:18695040, ECO:0000269|PubMed:26269590, ECO:0000269|PubMed:27071085, ECO:0000269|PubMed:27214281, ECO:0000269|PubMed:29899465, ECO:0000269|PubMed:31441214, ECO:0000269|PubMed:33164752, ECO:0000269|PubMed:39009345}.
Q13813 SPTAN1 S2139 ochoa Spectrin alpha chain, non-erythrocytic 1 (Alpha-II spectrin) (Fodrin alpha chain) (Spectrin, non-erythroid alpha subunit) Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
Q14005 IL16 S1074 ochoa Pro-interleukin-16 [Cleaved into: Interleukin-16 (IL-16) (Lymphocyte chemoattractant factor) (LCF)] Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4.; FUNCTION: [Isoform 1]: May act as a scaffolding protein that anchors ion channels in the membrane.; FUNCTION: Isoform 3 is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA-binding subunit the GABP transcription factor complex) and HDAC3 thus maintaining transcriptional repression and blocking cell cycle progression in resting T-cells.
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}.
Q14126 DSG2 S701 ochoa Desmoglein-2 (Cadherin family member 5) (HDGC) A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:38395410). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Required for proliferation and viability of embryonic stem cells in the blastocyst, thereby crucial for progression of post-implantation embryonic development (By similarity). Maintains pluripotency by regulating epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via interacting with and sequestering CTNNB1 to sites of cell-cell contact, thereby reducing translocation of CTNNB1 to the nucleus and subsequent transcription of CTNNB1/TCF-target genes (PubMed:29910125). Promotes pluripotency and the multi-lineage differentiation potential of hematopoietic stem cells (PubMed:27338829). Plays a role in endothelial cell sprouting and elongation via mediating the junctional-association of cortical actin fibers and CDH5 (PubMed:27338829). Plays a role in limiting inflammatory infiltration and the apoptotic response to injury in kidney tubular epithelial cells, potentially via its role in maintaining cell-cell adhesion and the epithelial barrier (PubMed:38395410). {ECO:0000250|UniProtKB:O55111, ECO:0000269|PubMed:27338829, ECO:0000269|PubMed:29910125, ECO:0000269|PubMed:38395410}.
Q14315 FLNC S2620 ochoa Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (ABP-L) (Actin-binding-like protein) (Filamin-2) (Gamma-filamin) Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events (By similarity). {ECO:0000250|UniProtKB:Q8VHX6, ECO:0000269|PubMed:34405687}.
Q14517 FAT1 S1170 ochoa Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form] [Protocadherin Fat 1]: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact. {ECO:0000250}.
Q14699 RFTN1 S486 ochoa Raftlin (Cell migration-inducing gene 2 protein) (Raft-linking protein) Involved in protein trafficking via association with clathrin and AP2 complex (PubMed:21266579, PubMed:27022195). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production (PubMed:21266579, PubMed:27022195). Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (By similarity). May regulate B-cell antigen receptor-mediated signaling (PubMed:12805216). May play a pivotal role in the formation and/or maintenance of lipid rafts (PubMed:12805216). {ECO:0000250|UniProtKB:Q6A0D4, ECO:0000269|PubMed:12805216, ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}.
Q14789 GOLGB1 S3135 ochoa Golgin subfamily B member 1 (372 kDa Golgi complex-associated protein) (GCP372) (Giantin) (Macrogolgin) May participate in forming intercisternal cross-bridges of the Golgi complex.
Q14980 NUMA1 S191 ochoa Nuclear mitotic apparatus protein 1 (Nuclear matrix protein-22) (NMP-22) (Nuclear mitotic apparatus protein) (NuMA protein) (SP-H antigen) Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074, PubMed:7769006). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:11956313, PubMed:12445386). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:22327364, PubMed:23027904, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24371089, PubMed:24996901). Also binds to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24371089, PubMed:24996901). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q7G0, ECO:0000269|PubMed:11163243, ECO:0000269|PubMed:11229403, ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:17172455, ECO:0000269|PubMed:19255246, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23027904, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665, ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074, ECO:0000269|PubMed:7769006, ECO:0000305|PubMed:10075938, ECO:0000305|PubMed:21816348}.
Q15326 ZMYND11 S380 ochoa Zinc finger MYND domain-containing protein 11 (Adenovirus 5 E1A-binding protein) (Bone morphogenetic protein receptor-associated molecule 1) (Protein BS69) Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth. {ECO:0000250|UniProtKB:Q8R5C8, ECO:0000269|PubMed:10734313, ECO:0000269|PubMed:16565076, ECO:0000269|PubMed:24675531}.; FUNCTION: (Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction. {ECO:0000269|PubMed:26845565}.
Q15326 ZMYND11 S381 ochoa Zinc finger MYND domain-containing protein 11 (Adenovirus 5 E1A-binding protein) (Bone morphogenetic protein receptor-associated molecule 1) (Protein BS69) Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth. {ECO:0000250|UniProtKB:Q8R5C8, ECO:0000269|PubMed:10734313, ECO:0000269|PubMed:16565076, ECO:0000269|PubMed:24675531}.; FUNCTION: (Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction. {ECO:0000269|PubMed:26845565}.
Q15545 TAF7 S201 ochoa Transcription initiation factor TFIID subunit 7 (RNA polymerase II TBP-associated factor subunit F) (Transcription initiation factor TFIID 55 kDa subunit) (TAF(II)55) (TAFII-55) (TAFII55) The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:10438527, PubMed:33795473). TAF7 forms a promoter DNA binding subcomplex of TFIID, together with TAF1 and TAF2 (PubMed:33795473). Part of a TFIID complex containing TAF10 (TFIID alpha) and a TFIID complex lacking TAF10 (TFIID beta) (PubMed:10438527). {ECO:0000269|PubMed:10438527, ECO:0000269|PubMed:33795473}.
Q19T08 ECSCR S166 ochoa Endothelial cell-specific chemotaxis regulator (Apoptosis regulator through modulating IAP expression) (ARIA) (Endothelial cell-specific molecule 2) Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2. {ECO:0000269|PubMed:18556573, ECO:0000269|PubMed:19416853}.
Q2NKX8 ERCC6L S1042 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}.
Q4ZG55 GREB1 S1096 ochoa Protein GREB1 (Gene regulated in breast cancer 1 protein) May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers.
Q5JTH9 RRP12 S92 ochoa RRP12-like protein None
Q5JTV8 TOR1AIP1 S230 ochoa Torsin-1A-interacting protein 1 (Lamin-associated protein 1B) (LAP1B) Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina. {ECO:0000269|PubMed:23569223}.
Q5T3F8 TMEM63B S115 ochoa Mechanosensitive cation channel TMEM63B (Transmembrane protein 63B) (hTMEM63B) Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:37543036, PubMed:38127458). Osmosensitive cation channel preferentially activated by hypotonic stress (PubMed:37543036, PubMed:38127458). Also acts as a phospholipid scramblase in response to changes in membrane structure: upon changes in membrane curvature and thickness, alters its conformation and translocates phospholipids, such as phosphatidylcholine and sphingomyelin, thereby controlling plasma membrane lipid distribution (PubMed:39217145, PubMed:39424995, PubMed:39716028). Forms a heterodimer with SLC19A2, which mediates phospholipid scramblase activity following Ca(2+) stimulation (By similarity). Expressed in excitatory neurons of the subfornical organ and functions as a thirst receptor that mediates neuronal response to hyperosmolality to drive thirst and drinking behavior (By similarity). Facilitates intestinal motility by promoting proliferation of intestinal stem cells (By similarity). Essential for the baby's first breath and respiration throughout life (PubMed:38127458). Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:38127458). Acts as an osmosensor in cochlear outer hair cells (OHCs) where it mediates calcium influx and regulatory volume decrease response (By similarity). Required for the maintenance of OHC morphology, OHC survival and normal hearing (By similarity). {ECO:0000250|UniProtKB:Q3TWI9, ECO:0000269|PubMed:37543036, ECO:0000269|PubMed:38127458, ECO:0000269|PubMed:39217145, ECO:0000269|PubMed:39424995, ECO:0000269|PubMed:39716028}.
Q5UIP0 RIF1 S1200 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}.
Q5UIP0 RIF1 S1526 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}.
Q5UIP0 RIF1 S1844 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}.
Q5UIP0 RIF1 S1976 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}.
Q5VT25 CDC42BPA S856 ochoa Serine/threonine-protein kinase MRCK alpha (EC 2.7.11.1) (CDC42-binding protein kinase alpha) (DMPK-like alpha) (Myotonic dystrophy kinase-related CDC42-binding kinase alpha) (MRCK alpha) (Myotonic dystrophy protein kinase-like alpha) Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9092543, PubMed:9418861). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). Triggers the formation of an extrusion apical actin ring required for epithelial extrusion of apoptotic cells (PubMed:29162624). {ECO:0000250|UniProtKB:Q3UU96, ECO:0000269|PubMed:11340065, ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:15723050, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:20188707, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:29162624, ECO:0000269|PubMed:9092543, ECO:0000269|PubMed:9418861}.
Q5VT52 RPRD2 S745 ochoa Regulation of nuclear pre-mRNA domain-containing protein 2 None
Q5VT52 RPRD2 S909 ochoa Regulation of nuclear pre-mRNA domain-containing protein 2 None
Q5W0B1 OBI1 S461 ochoa ORC ubiquitin ligase 1 (OBI1) (EC 2.3.2.27) (RING finger protein 219) E3 ubiquitin ligase essential for DNA replication origin activation during S phase (PubMed:31160578). Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase (PubMed:31160578). {ECO:0000269|PubMed:31160578}.
Q69YH5 CDCA2 S666 ochoa Cell division cycle-associated protein 2 (Recruits PP1 onto mitotic chromatin at anaphase protein) (Repo-Man) Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates. {ECO:0000269|PubMed:16492807, ECO:0000269|PubMed:16998479}.
Q6GYQ0 RALGAPA1 S832 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}.
Q6IN85 PPP4R3A S127 ochoa Serine/threonine-protein phosphatase 4 regulatory subunit 3A (SMEK homolog 1) Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on 'Ser-140' (gamma-H2AX) generated during DNA replication and required for DNA DSB repair. {ECO:0000269|PubMed:18614045}.
Q6P444 MTFR2 S172 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}.
Q6P4R8 NFRKB S339 ochoa Nuclear factor related to kappa-B-binding protein (DNA-binding protein R kappa-B) (INO80 complex subunit G) Binds to the DNA consensus sequence 5'-GGGGAATCTCC-3'. {ECO:0000269|PubMed:18922472}.; FUNCTION: Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Modulates the deubiquitinase activity of UCHL5 in the INO80 complex. {ECO:0000269|PubMed:18922472}.
Q6PCB0 VWA1 S93 ochoa von Willebrand factor A domain-containing protein 1 Promotes matrix assembly (By similarity). Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable). {ECO:0000250|UniProtKB:Q8R2Z5, ECO:0000305|PubMed:33559681}.
Q6PL18 ATAD2 S671 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}.
Q6VN20 RANBP10 S490 ochoa Ran-binding protein 10 (RanBP10) May act as an adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). 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 (PubMed:29911972). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation (PubMed:18222118). Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase. May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function (By similarity). {ECO:0000250|UniProtKB:Q6VN19, ECO:0000269|PubMed:18222118, ECO:0000269|PubMed:29911972, ECO:0000305}.
Q6Y7W6 GIGYF2 S376 ochoa GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein) Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631, PubMed:35878012). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153). In association with EIF4E2, assists ribosome-associated quality control (RQC) by sequestering the mRNA cap, blocking ribosome initiation and decreasing the translational load on problematic messages. Part of a pathway that works in parallel to RQC-mediated degradation of the stalled nascent polypeptide (PubMed:32726578). GIGYF2 and EIF4E2 work downstream and independently of ZNF598, which seems to work as a scaffold that can recruit them to faulty mRNA even if alternative recruitment mechanisms may exist (PubMed:32726578). {ECO:0000269|PubMed:12771153, ECO:0000269|PubMed:22751931, ECO:0000269|PubMed:31439631, ECO:0000269|PubMed:32726578, ECO:0000269|PubMed:35878012}.; FUNCTION: (Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, the interaction with non-structural protein 2 (nsp2) enhances GIGYF2 binding to EIF4E2 and increases repression of translation initiation of genes involved in antiviral innate immune response such as IFNB1. {ECO:0000269|PubMed:35878012}.
Q6Y7W6 GIGYF2 S377 ochoa GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein) Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631, PubMed:35878012). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153). In association with EIF4E2, assists ribosome-associated quality control (RQC) by sequestering the mRNA cap, blocking ribosome initiation and decreasing the translational load on problematic messages. Part of a pathway that works in parallel to RQC-mediated degradation of the stalled nascent polypeptide (PubMed:32726578). GIGYF2 and EIF4E2 work downstream and independently of ZNF598, which seems to work as a scaffold that can recruit them to faulty mRNA even if alternative recruitment mechanisms may exist (PubMed:32726578). {ECO:0000269|PubMed:12771153, ECO:0000269|PubMed:22751931, ECO:0000269|PubMed:31439631, ECO:0000269|PubMed:32726578, ECO:0000269|PubMed:35878012}.; FUNCTION: (Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, the interaction with non-structural protein 2 (nsp2) enhances GIGYF2 binding to EIF4E2 and increases repression of translation initiation of genes involved in antiviral innate immune response such as IFNB1. {ECO:0000269|PubMed:35878012}.
Q71RC2 LARP4 S569 ochoa La-related protein 4 (La ribonucleoprotein domain family member 4) RNA binding protein that binds to the poly-A tract of mRNA molecules (PubMed:21098120). Associates with the 40S ribosomal subunit and with polysomes (PubMed:21098120). Plays a role in the regulation of mRNA translation (PubMed:21098120). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987, PubMed:27615744). {ECO:0000269|PubMed:21098120, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:27615744}.
Q7L0Y3 TRMT10C S85 ochoa tRNA methyltransferase 10 homolog C (HBV pre-S2 trans-regulated protein 2) (Mitochondrial ribonuclease P protein 1) (Mitochondrial RNase P protein 1) (RNA (guanine-9-)-methyltransferase domain-containing protein 1) (Renal carcinoma antigen NY-REN-49) (mRNA methyladenosine-N(1)-methyltransferase) (EC 2.1.1.-) (tRNA (adenine(9)-N(1))-methyltransferase) (EC 2.1.1.218) (tRNA (guanine(9)-N(1))-methyltransferase) (EC 2.1.1.221) Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly. {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:21593607, ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:24703694, ECO:0000269|PubMed:27132592, ECO:0000269|PubMed:29040705, ECO:0000269|PubMed:29072297}.
Q7L8J4 SH3BP5L S43 ochoa SH3 domain-binding protein 5-like (SH3BP-5-like) Functions as a guanine nucleotide exchange factor (GEF) for RAB11A. {ECO:0000269|PubMed:30217979}.
Q7LBC6 KDM3B S553 ochoa Lysine-specific demethylase 3B (EC 1.14.11.65) (JmjC domain-containing histone demethylation protein 2B) (Jumonji domain-containing protein 1B) (Nuclear protein 5qNCA) ([histone H3]-dimethyl-L-lysine(9) demethylase 3B) Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity. {ECO:0000269|PubMed:16603237}.
Q7Z4V5 HDGFL2 S634 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}.
Q7Z5H3 ARHGAP22 S558 ochoa Rho GTPase-activating protein 22 (Rho-type GTPase-activating protein 22) Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity). {ECO:0000250}.
Q86TI0 TBC1D1 S559 ochoa TBC1 domain family member 1 May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity). {ECO:0000250}.
Q86TV6 TTC7B S682 ochoa Tetratricopeptide repeat protein 7B (TPR repeat protein 7B) (Tetratricopeptide repeat protein 7-like-1) (TPR repeat protein 7-like-1) Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (PubMed:26571211). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:26571211}.
Q86UU1 PHLDB1 S693 ochoa Pleckstrin homology-like domain family B member 1 (Protein LL5-alpha) None
Q8IWE5 PLEKHM2 S282 ochoa Pleckstrin homology domain-containing family M member 2 (PH domain-containing family M member 2) (Salmonella-induced filaments A and kinesin-interacting protein) (SifA and kinesin-interacting protein) Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility (PubMed:22172677, PubMed:24088571, PubMed:25898167, PubMed:28325809). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). Required for maintenance of the Golgi apparatus organization (PubMed:22172677). May play a role in membrane tubulation (PubMed:15905402). {ECO:0000269|PubMed:15905402, ECO:0000269|PubMed:22172677, ECO:0000269|PubMed:24088571, ECO:0000269|PubMed:25898167, ECO:0000269|PubMed:28325809}.
Q8IWE5 PLEKHM2 S283 ochoa Pleckstrin homology domain-containing family M member 2 (PH domain-containing family M member 2) (Salmonella-induced filaments A and kinesin-interacting protein) (SifA and kinesin-interacting protein) Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility (PubMed:22172677, PubMed:24088571, PubMed:25898167, PubMed:28325809). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). Required for maintenance of the Golgi apparatus organization (PubMed:22172677). May play a role in membrane tubulation (PubMed:15905402). {ECO:0000269|PubMed:15905402, ECO:0000269|PubMed:22172677, ECO:0000269|PubMed:24088571, ECO:0000269|PubMed:25898167, ECO:0000269|PubMed:28325809}.
Q8IWV8 UBR2 S1023 ochoa E3 ubiquitin-protein ligase UBR2 (EC 2.3.2.27) (N-recognin-2) (Ubiquitin-protein ligase E3-alpha-2) (Ubiquitin-protein ligase E3-alpha-II) E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:20835242, PubMed:28392261). Recognizes and binds to proteins bearing specific N-terminal residues (N-degrons) that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (PubMed:20835242, PubMed:28392261). 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:20835242, PubMed:28392261). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:20835242). In contrast, it strongly binds methylated N-degrons (PubMed:28392261). Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A (By similarity). Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth (PubMed:20298436). Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retrotransposon mobilization (By similarity). Catalyzes ubiquitination and degradation of the N-terminal part of NLRP1 following NLRP1 activation by pathogens and other damage-associated signals: ubiquitination promotes degradation of the N-terminal part and subsequent release of the cleaved C-terminal part of NLRP1, which polymerizes and forms the NLRP1 inflammasome followed by host cell pyroptosis (By similarity). Plays a role in T-cell receptor signaling by inducing 'Lys-63'-linked ubiquitination of lymphocyte cell-specific kinase LCK (PubMed:38225265). This activity is regulated by DUSP22, which induces 'Lys-48'-linked ubiquitination of UBR2, leading to its proteasomal degradation by SCF E3 ubiquitin-protein ligase complex (PubMed:38225265). {ECO:0000250|UniProtKB:Q6WKZ8, ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:20298436, ECO:0000269|PubMed:20835242, ECO:0000269|PubMed:28392261, ECO:0000269|PubMed:38225265}.
Q8IX01 SUGP2 S573 ochoa SURP and G-patch domain-containing protein 2 (Arginine/serine-rich-splicing factor 14) (Splicing factor, arginine/serine-rich 14) May play a role in mRNA splicing. {ECO:0000305}.
Q8IX07 ZFPM1 S672 ochoa Zinc finger protein ZFPM1 (Friend of GATA protein 1) (FOG-1) (Friend of GATA 1) (Zinc finger protein 89A) (Zinc finger protein multitype 1) Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of some genes in gonads. May also be involved in cardiac development, in a non-redundant way with ZFPM2/FOG2 (By similarity). {ECO:0000250}.
Q8IXK0 PHC2 S591 ochoa Polyhomeotic-like protein 2 (hPH2) (Early development regulatory protein 2) Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility.
Q8N183 NDUFAF2 S149 ochoa NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (B17.2-like) (B17.2L) (Mimitin) (Myc-induced mitochondrial protein) (MMTN) (NDUFA12-like protein) Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). Is involved in the initial steps of cilia formation, including removal of CP110 from the mother centrioles, docking of membrane vesicles to the mother centrioles, and establishment of the transition zone (PubMed:38949024). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:38949024}.
Q8N3F8 MICALL1 S537 ochoa MICAL-like protein 1 (Molecule interacting with Rab13) (MIRab13) Lipid-binding protein with higher affinity for phosphatidic acid, a lipid enriched in recycling endosome membranes. On endosome membranes, acts as a downstream effector of Rab proteins recruiting cytosolic proteins to regulate membrane tubulation (PubMed:19864458, PubMed:20801876, PubMed:23596323, PubMed:34100897). Involved in a late step of receptor-mediated endocytosis regulating for instance endocytosed-EGF receptor trafficking (PubMed:21795389). Alternatively, regulates slow endocytic recycling of endocytosed proteins back to the plasma membrane (PubMed:19864458). Also involved in cargo protein delivery to the plasma membrane (PubMed:34100897). Plays a role in ciliogenesis coordination, recruits EHD1 to primary cilium where it is anchored to the centriole through interaction with tubulins (PubMed:31615969). May indirectly play a role in neurite outgrowth (By similarity). {ECO:0000250|UniProtKB:Q8BGT6, ECO:0000269|PubMed:19864458, ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:21795389, ECO:0000269|PubMed:23596323, ECO:0000269|PubMed:31615969, ECO:0000269|PubMed:34100897}.
Q8N3Z6 ZCCHC7 S122 ochoa Zinc finger CCHC domain-containing protein 7 (TRAMP-like complex RNA-binding factor ZCCHC7) None
Q8N4N8 KIF2B S201 psp Kinesin-like protein KIF2B Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108). {ECO:0000269|PubMed:17538014, ECO:0000269|PubMed:23891108}.
Q8N4S9 MARVELD2 S390 ochoa MARVEL domain-containing protein 2 (Tricellulin) Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). {ECO:0000250|UniProtKB:Q3UZP0, ECO:0000269|PubMed:17186462}.
Q8N7H5 PAF1 S118 ochoa RNA polymerase II-associated factor 1 homolog (hPAF1) (Pancreatic differentiation protein 2) 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 RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro. {ECO:0000269|PubMed:16491129, ECO:0000269|PubMed:19410543, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742, ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879, ECO:0000269|PubMed:22419161}.
Q8NBJ4 GOLM1 S87 ochoa Golgi membrane protein 1 (Golgi membrane protein GP73) (Golgi phosphoprotein 2) Unknown. Cellular response protein to viral infection.
Q8NCN4 RNF169 S521 ochoa E3 ubiquitin-protein ligase RNF169 (EC 2.3.2.27) (RING finger protein 169) (RING-type E3 ubiquitin transferase RNF169) Probable E3 ubiquitin-protein ligase that acts as a regulator of double-strand breaks (DSBs) repair following DNA damage. Functions in a non-canonical fashion to harness RNF168-mediated protein recruitment to DSB-containing chromatin, thereby contributing to regulation of DSB repair pathway utilization (PubMed:22492721, PubMed:30773093). Once recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168, competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby favouring homologous recombination repair (HRR) and single-strand annealing (SSA) instead of non-homologous end joining (NHEJ) mediated by TP53BP1 (PubMed:30104380, PubMed:30773093). E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair. {ECO:0000269|PubMed:22492721, ECO:0000269|PubMed:22733822, ECO:0000269|PubMed:22742833, ECO:0000269|PubMed:30104380, ECO:0000269|PubMed:30773093}.
Q8NDI1 EHBP1 S660 ochoa EH domain-binding protein 1 May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity). {ECO:0000250|UniProtKB:Q69ZW3, ECO:0000269|PubMed:14676205, ECO:0000305|PubMed:27552051}.
Q8NF91 SYNE1 S8665 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}.
Q8TBA6 GOLGA5 S204 ochoa Golgin subfamily A member 5 (Cell proliferation-inducing gene 31 protein) (Golgin-84) (Protein Ret-II) (RET-fused gene 5 protein) Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. {ECO:0000269|PubMed:12538640, ECO:0000269|PubMed:15718469}.
Q8TD26 CHD6 S2058 ochoa Chromodomain-helicase-DNA-binding protein 6 (CHD-6) (EC 3.6.4.-) (ATP-dependent helicase CHD6) (Radiation-induced gene B protein) ATP-dependent chromatin-remodeling factor (PubMed:17027977, PubMed:28533432). Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin; nucleosome disruption requires ATP (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2. {ECO:0000269|PubMed:16314513, ECO:0000269|PubMed:17027977, ECO:0000269|PubMed:28533432}.; FUNCTION: (Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner. {ECO:0000269|PubMed:20631145, ECO:0000269|PubMed:21899694, ECO:0000269|PubMed:23408615}.
Q8TE76 MORC4 S617 ochoa MORC family CW-type zinc finger protein 4 (Zinc finger CW-type coiled-coil domain protein 2) (Zinc finger CW-type domain protein 4) Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) 'Lys-4' on histone H3 (PubMed:26933034). The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0 (PubMed:26933034). {ECO:0000269|PubMed:26933034}.
Q8TEQ6 GEMIN5 S1417 ochoa Gem-associated protein 5 (Gemin5) The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:16857593, PubMed:18984161, PubMed:20513430, PubMed:33963192). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. Within the SMN complex, GEMIN5 recognizes and delivers the small nuclear RNAs (snRNAs) to the SMN complex (PubMed:11714716, PubMed:16314521, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.27). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887). {ECO:0000269|PubMed:11714716, ECO:0000269|PubMed:16314521, ECO:0000269|PubMed:16857593, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:19377484, ECO:0000269|PubMed:19750007, ECO:0000269|PubMed:20513430, ECO:0000269|PubMed:25911097, ECO:0000269|PubMed:27507887, ECO:0000269|PubMed:27834343, ECO:0000269|PubMed:27881600, ECO:0000269|PubMed:27881601, ECO:0000269|PubMed:33963192, ECO:0000269|Ref.27}.
Q8WWI1 LMO7 S879 ochoa LIM domain only protein 7 (LMO-7) (F-box only protein 20) (LOMP) None
Q8WXH0 SYNE2 S4159 ochoa Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2) 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 (PubMed:34818527). Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis. Facilitates the relaxation of mechanical stress imposed by compressive actin fibers at the rupture site through its nteraction with SYN2 (PubMed:34818527). {ECO:0000250|UniProtKB:Q6ZWQ0, ECO:0000269|PubMed:12118075, ECO:0000269|PubMed:18396275, ECO:0000269|PubMed:19596800, ECO:0000269|PubMed:20724637, ECO:0000269|PubMed:22945352, ECO:0000269|PubMed:34818527}.
Q8WYP5 AHCTF1 S2044 ochoa Protein ELYS (Embryonic large molecule derived from yolk sac) (Protein MEL-28) (Putative AT-hook-containing transcription factor 1) Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis. {ECO:0000269|PubMed:17098863, ECO:0000269|PubMed:17235358}.
Q92575 UBXN4 S180 ochoa UBX domain-containing protein 4 (Erasin) (UBX domain-containing protein 2) Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD (PubMed:19822669). {ECO:0000269|PubMed:16968747, ECO:0000269|PubMed:19822669}.
Q92734 TFG S153 ochoa Protein TFG (TRK-fused gene protein) Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858). {ECO:0000269|PubMed:21478858, ECO:0000269|PubMed:23479643, ECO:0000269|PubMed:27813252}.
Q92794 KAT6A S1000 ochoa Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220) Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}.
Q92794 KAT6A S1001 ochoa Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220) Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}.
Q92901 RPL3L S372 ochoa Ribosomal protein uL3-like (60S ribosomal protein L3-like) (Large ribosomal subunit protein uL3-like) Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function. Component of the large ribosomal subunit in striated muscle cells: replaces the RPL3 paralog in the ribosome in these cells. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Inhibits myotube growth and muscle function. {ECO:0000250|UniProtKB:E9PWZ3}.
Q92934 BAD Y76 ochoa Bcl2-associated agonist of cell death (BAD) (Bcl-2-binding component 6) (Bcl-2-like protein 8) (Bcl2-L-8) (Bcl-xL/Bcl-2-associated death promoter) (Bcl2 antagonist of cell death) Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways. {ECO:0000250}.
Q969F1 GTF3C6 S174 ochoa General transcription factor 3C polypeptide 6 (Transcription factor IIIC 35 kDa subunit) (TFIIIC 35 kDa subunit) (TFIIIC35) (Transcription factor IIIC subunit 6) Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters. {ECO:0000269|PubMed:17409385}.
Q96B97 SH3KBP1 S472 ochoa SH3 domain-containing kinase-binding protein 1 (CD2-binding protein 3) (CD2BP3) (Cbl-interacting protein of 85 kDa) (Human Src family kinase-binding protein 1) (HSB-1) Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373). {ECO:0000250, ECO:0000269|PubMed:11894095, ECO:0000269|PubMed:11894096, ECO:0000269|PubMed:12177062, ECO:0000269|PubMed:12734385, ECO:0000269|PubMed:12771190, ECO:0000269|PubMed:15090612, ECO:0000269|PubMed:15707590, ECO:0000269|PubMed:16177060, ECO:0000269|PubMed:16256071, ECO:0000269|PubMed:21275903, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:29636373}.
Q96BD0 SLCO4A1 S356 ochoa Solute carrier organic anion transporter family member 4A1 (OATP4A1) (Colon organic anion transporter) (Organic anion transporter polypeptide-related protein 1) (OATP-RP1) (OATPRP1) (POAT) (Organic anion-transporting polypeptide E) (OATP-E) (Sodium-independent organic anion transporter E) (Solute carrier family 21 member 12) Organic anion antiporter with apparent broad substrate specificity. Recognizes various substrates including thyroid hormones 3,3',5-triiodo-L-thyronine (T3), L-thyroxine (T4) and 3,3',5'-triiodo-L-thyronine (rT3), conjugated steroids such as estrone 3-sulfate and estradiol 17-beta glucuronide, bile acids such as taurocholate and prostanoids such as prostaglandin E2, likely operating in a tissue-specific manner (PubMed:10873595, PubMed:19129463, PubMed:30343886). May be involved in uptake of metabolites from the circulation into organs such as kidney, liver or placenta. Possibly drives the selective transport of thyroid hormones and estrogens coupled to an outward glutamate gradient across the microvillous membrane of the placenta (PubMed:30343886). The transport mechanism, its electrogenicity and potential tissue-specific counterions remain to be elucidated (Probable). {ECO:0000269|PubMed:10873595, ECO:0000269|PubMed:19129463, ECO:0000269|PubMed:30343886, ECO:0000305}.
Q96BY7 ATG2B S1160 ochoa Autophagy-related protein 2 homolog B Lipid transfer protein required for both autophagosome formation and regulation of lipid droplet morphology and dispersion (PubMed:22219374, PubMed:31721365). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (PubMed:22219374, PubMed:31721365). Binds to the ER exit site (ERES), which is the membrane source for autophagosome formation, and extracts phospholipids from the membrane source and transfers them to ATG9 (ATG9A or ATG9B) to the IM for membrane expansion (By similarity). Lipid transfer activity is enhanced by WDR45/WIPI4, which promotes ATG2B-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31721365). {ECO:0000250|UniProtKB:Q2TAZ0, ECO:0000269|PubMed:22219374, ECO:0000269|PubMed:31721365}.
Q96D71 REPS1 S430 ochoa RalBP1-associated Eps domain-containing protein 1 (RalBP1-interacting protein 1) May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. {ECO:0000250}.
Q96EB6 SIRT1 S173 ochoa NAD-dependent protein deacetylase sirtuin-1 (hSIRT1) (EC 2.3.1.286) (NAD-dependent protein deacylase sirtuin-1) (EC 2.3.1.-) (Regulatory protein SIR2 homolog 1) (SIR2-like protein 1) (hSIR2) [Cleaved into: SirtT1 75 kDa fragment (75SirT1)] NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy (PubMed:11672523, PubMed:12006491, PubMed:14976264, PubMed:14980222, PubMed:15126506, PubMed:15152190, PubMed:15205477, PubMed:15469825, PubMed:15692560, PubMed:16079181, PubMed:16166628, PubMed:16892051, PubMed:16998810, PubMed:17283066, PubMed:17290224, PubMed:17334224, PubMed:17505061, PubMed:17612497, PubMed:17620057, PubMed:17936707, PubMed:18203716, PubMed:18296641, PubMed:18662546, PubMed:18687677, PubMed:19188449, PubMed:19220062, PubMed:19364925, PubMed:19690166, PubMed:19934257, PubMed:20097625, PubMed:20100829, PubMed:20203304, PubMed:20375098, PubMed:20620956, PubMed:20670893, PubMed:20817729, PubMed:20955178, PubMed:21149730, PubMed:21245319, PubMed:21471201, PubMed:21504832, PubMed:21555002, PubMed:21698133, PubMed:21701047, PubMed:21775285, PubMed:21807113, PubMed:21841822, PubMed:21890893, PubMed:21947282, PubMed:22274616, PubMed:22918831, PubMed:24415752, PubMed:24824780, PubMed:29681526, PubMed:29765047, PubMed:30409912). Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression (PubMed:15469825). Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively (PubMed:14976264, PubMed:14980222, PubMed:15152190). Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction (PubMed:15205477). Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT) (By similarity). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes (PubMed:18485871). The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus (PubMed:18485871, PubMed:21504832). Deacetylates 'Lys-266' of SUV39H1, leading to its activation (PubMed:21504832). Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1 (PubMed:19188449). Deacetylates H2A and 'Lys-26' of H1-4 (PubMed:15469825). Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression (PubMed:20375098). Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting (By similarity). Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1 (PubMed:15469825, PubMed:18004385). Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2 (PubMed:18004385, PubMed:21504832). This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response (PubMed:18004385, PubMed:21504832). Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence (PubMed:11672523, PubMed:12006491, PubMed:22542455). Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I (By similarity). Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability (PubMed:19364925, PubMed:21807113). Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation (PubMed:14976264, PubMed:14980222, PubMed:21841822). Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis (PubMed:15126506). Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing (PubMed:21947282). Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha (PubMed:15152190). Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1 (PubMed:17283066, PubMed:17620057, PubMed:20100829, PubMed:20620956). Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver (PubMed:15692560). Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation (PubMed:16892051). Involved in HES1- and HEY2-mediated transcriptional repression (PubMed:12535671). In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62' (PubMed:21698133). Deacetylates MEF2D (PubMed:16166628). Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3 (PubMed:17505061). Represses HNF1A-mediated transcription (By similarity). Required for the repression of ESRRG by CREBZF (PubMed:19690166). Deacetylates NR1H3 and NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteasomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed (PubMed:17936707). Involved in lipid metabolism: deacetylates LPIN1, thereby inhibiting diacylglycerol synthesis (PubMed:20817729, PubMed:29765047). Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2 (By similarity). Deacetylates p300/EP300 and PRMT1 (By similarity). Deacetylates ACSS2 leading to its activation, and HMGCS1 deacetylation (PubMed:21701047). Involved in liver and muscle metabolism. Through deacetylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletal muscle under low-glucose conditions and is involved in glucose homeostasis (PubMed:23142079). Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insulin-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression (PubMed:17290224, PubMed:20817729). Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and facilitating recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2 (PubMed:15205477, PubMed:16998810, PubMed:17334224, PubMed:17612497, PubMed:20670893, PubMed:21149730). Also involved in DNA repair of DNA double-strand breaks by homologous recombination and specifically single-strand annealing independently of XRCC6/Ku70 and NBN (PubMed:15205477, PubMed:17334224, PubMed:20097625). Promotes DNA double-strand breaks by mediating deacetylation of SIRT6 (PubMed:32538779). Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage (PubMed:18203716). Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1 (PubMed:19934257). Catalyzes deacetylation of ERCC4/XPF, thereby impairing interaction with ERCC1 and nucleotide excision repair (NER) (PubMed:32034146). Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys-542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8 (PubMed:18296641). Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation (PubMed:21775285). Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear (PubMed:18687677, PubMed:20203304). In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys-70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transactivation and contributes to its stability (PubMed:21890893). Deacetylates MECOM/EVI1 (PubMed:21555002). Deacetylates PML at 'Lys-487' and this deacetylation promotes PML control of PER2 nuclear localization (PubMed:22274616). During the neurogenic transition, represses selective NOTCH1-target genes through histone deacetylation in a BCL6-dependent manner and leading to neuronal differentiation. Regulates the circadian expression of several core clock genes, including BMAL1, RORC, PER2 and CRY1 and plays a critical role in maintaining a controlled rhythmicity in histone acetylation, thereby contributing to circadian chromatin remodeling (PubMed:18662546). Deacetylates BMAL1 and histones at the circadian gene promoters in order to facilitate repression by inhibitory components of the circadian oscillator (By similarity). Deacetylates PER2, facilitating its ubiquitination and degradation by the proteasome (By similarity). Protects cardiomyocytes against palmitate-induced apoptosis (By similarity). Deacetylates XBP1 isoform 2; deacetylation decreases protein stability of XBP1 isoform 2 and inhibits its transcriptional activity (PubMed:20955178). Deacetylates PCK1 and directs its activity toward phosphoenolpyruvate production promoting gluconeogenesis (PubMed:30193097). Involved in the CCAR2-mediated regulation of PCK1 and NR1D1 (PubMed:24415752). Deacetylates CTNB1 at 'Lys-49' (PubMed:24824780). In POMC (pro-opiomelanocortin) neurons, required for leptin-induced activation of PI3K signaling (By similarity). Deacetylates SOX9; promoting SOX9 nuclear localization and transactivation activity (By similarity). Involved in the regulation of centrosome duplication: deacetylates CENATAC in G1 phase, allowing for SASS6 accumulation on the centrosome and subsequent procentriole assembly (PubMed:31722219). Deacetylates NDC80/HEC1 (PubMed:30409912). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by mediating protein delactylation, depropionylation and decrotonylation (PubMed:28497810, PubMed:38512451). Mediates depropionylation of Osterix (SP7) (By similarity). Catalyzes decrotonylation of histones; it however does not represent a major histone decrotonylase (PubMed:28497810). Mediates protein delactylation of TEAD1 and YAP1 (PubMed:38512451). {ECO:0000250|UniProtKB:Q923E4, ECO:0000269|PubMed:11672523, ECO:0000269|PubMed:12006491, ECO:0000269|PubMed:12535671, ECO:0000269|PubMed:14976264, ECO:0000269|PubMed:14980222, ECO:0000269|PubMed:15126506, ECO:0000269|PubMed:15152190, ECO:0000269|PubMed:15205477, ECO:0000269|PubMed:15469825, ECO:0000269|PubMed:15692560, ECO:0000269|PubMed:16079181, ECO:0000269|PubMed:16166628, ECO:0000269|PubMed:16892051, ECO:0000269|PubMed:16998810, ECO:0000269|PubMed:17283066, ECO:0000269|PubMed:17290224, ECO:0000269|PubMed:17334224, ECO:0000269|PubMed:17505061, ECO:0000269|PubMed:17612497, ECO:0000269|PubMed:17620057, ECO:0000269|PubMed:17936707, ECO:0000269|PubMed:18203716, ECO:0000269|PubMed:18296641, ECO:0000269|PubMed:18485871, ECO:0000269|PubMed:18662546, ECO:0000269|PubMed:18687677, ECO:0000269|PubMed:19188449, ECO:0000269|PubMed:19220062, ECO:0000269|PubMed:19364925, ECO:0000269|PubMed:19690166, ECO:0000269|PubMed:19934257, ECO:0000269|PubMed:20097625, ECO:0000269|PubMed:20100829, ECO:0000269|PubMed:20203304, ECO:0000269|PubMed:20375098, ECO:0000269|PubMed:20620956, ECO:0000269|PubMed:20670893, ECO:0000269|PubMed:20817729, ECO:0000269|PubMed:20955178, ECO:0000269|PubMed:21149730, ECO:0000269|PubMed:21245319, ECO:0000269|PubMed:21471201, ECO:0000269|PubMed:21504832, ECO:0000269|PubMed:21555002, ECO:0000269|PubMed:21698133, ECO:0000269|PubMed:21701047, ECO:0000269|PubMed:21775285, ECO:0000269|PubMed:21807113, ECO:0000269|PubMed:21841822, ECO:0000269|PubMed:21890893, ECO:0000269|PubMed:21947282, ECO:0000269|PubMed:22274616, ECO:0000269|PubMed:22542455, ECO:0000269|PubMed:22918831, ECO:0000269|PubMed:23142079, ECO:0000269|PubMed:24415752, ECO:0000269|PubMed:24824780, ECO:0000269|PubMed:28497810, ECO:0000269|PubMed:29681526, ECO:0000269|PubMed:29765047, ECO:0000269|PubMed:30193097, ECO:0000269|PubMed:30409912, ECO:0000269|PubMed:31722219, ECO:0000269|PubMed:32034146, ECO:0000269|PubMed:32538779, ECO:0000269|PubMed:38512451}.; FUNCTION: [Isoform 2]: Deacetylates 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop. {ECO:0000269|PubMed:20975832}.; FUNCTION: [SirtT1 75 kDa fragment]: Catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly. {ECO:0000269|PubMed:21987377}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection. {ECO:0000269|PubMed:18329615}.
Q96FZ2 HMCES S316 ochoa Abasic site processing protein HMCES (EC 4.-.-.-) (Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein) (ES cell-specific 5hmC-binding protein) (Peptidase HMCES) (EC 3.4.-.-) (SRAP domain-containing protein 1) Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites (PubMed:30554877, PubMed:31235913, PubMed:31235915, PubMed:32307824, PubMed:32492421). Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA: forms a stable thiazolidine linkage between a ring-opened abasic site and the alpha-amino and sulfhydryl substituents of its N-terminal catalytic cysteine residue (PubMed:30554877, PubMed:31235913). Promotes error-free repair by protecting abasic sites from translesion synthesis (TLS) polymerases and endonucleases that are error-prone and would generate mutations and double-strand breaks (PubMed:30554877). The HMCES DNA-protein cross-link is then either reversed or degraded (PubMed:30554877, PubMed:36608669, PubMed:37519246, PubMed:37950866). HMCES is able to catalyze the reversal of its thiazolidine cross-link and cycle between a cross-link and a non-cross-linked state depending on DNA context: mediates self-reversal of the thiazolidine cross-link in double stranded DNA, allowing APEX1 to initiate downstream repair of abasic sites (PubMed:37519246, PubMed:37950866). The HMCES DNA-protein cross-link can also be degraded by the SPRTN metalloprotease following unfolding by the BRIP1/FANCJ helicase (PubMed:36608669). Has preference for ssDNA, but can also accommodate double-stranded DNA with 3' or 5' overhang (dsDNA), and dsDNA-ssDNA 3' junction (PubMed:31235915, PubMed:31806351). Plays a protective role during somatic hypermutation of immunoglobulin genes in B-cells: acts via its ability to form covalent cross-links with abasic sites, thereby limiting the accumulation of deletions in somatic hypermutation target regions (PubMed:35450882). Also involved in class switch recombination (CSR) in B-cells independently of the formation of a DNA-protein cross-link: acts by binding and protecting ssDNA overhangs to promote DNA double-strand break repair through the microhomology-mediated alternative-end-joining (Alt-EJ) pathway (By similarity). Acts as a protease: mediates autocatalytic processing of its N-terminal methionine in order to expose the catalytic cysteine (By similarity). {ECO:0000250|UniProtKB:Q8R1M0, ECO:0000269|PubMed:30554877, ECO:0000269|PubMed:31235913, ECO:0000269|PubMed:31235915, ECO:0000269|PubMed:31806351, ECO:0000269|PubMed:32307824, ECO:0000269|PubMed:32492421, ECO:0000269|PubMed:35450882, ECO:0000269|PubMed:36608669, ECO:0000269|PubMed:37519246, ECO:0000269|PubMed:37950866}.
Q96HA1 POM121 S465 ochoa Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
Q96HA1 POM121 S466 ochoa Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
Q96HA1 POM121 S467 ochoa Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa) Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.
Q96HU1 SGSM3 S60 ochoa Small G protein signaling modulator 3 (Merlin-associated protein) (RUN and TBC1 domain-containing protein 3) (Rab-GTPase-activating protein-like protein) (RabGAPLP) May play a cooperative role in NF2-mediated growth suppression of cells. {ECO:0000269|PubMed:15541357}.
Q96JM2 ZNF462 S2145 ochoa Zinc finger protein 462 (Zinc finger PBX1-interacting protein) (ZFPIP) Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965). {ECO:0000250|UniProtKB:B1AWL2, ECO:0000269|PubMed:20219459, ECO:0000269|PubMed:21570965}.
Q96PD2 DCBLD2 S600 ochoa|psp Discoidin, CUB and LCCL domain-containing protein 2 (CUB, LCCL and coagulation factor V/VIII-homology domains protein 1) (Endothelial and smooth muscle cell-derived neuropilin-like protein) None
Q96PE2 ARHGEF17 S862 ochoa Rho guanine nucleotide exchange factor 17 (164 kDa Rho-specific guanine-nucleotide exchange factor) (p164-RhoGEF) (p164RhoGEF) (Tumor endothelial marker 4) Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. {ECO:0000269|PubMed:12071859}.
Q96RL1 UIMC1 S198 ochoa BRCA1-A complex subunit RAP80 (Receptor-associated protein 80) (Retinoid X receptor-interacting protein 110) (Ubiquitin interaction motif-containing protein 1) Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.38). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1. {ECO:0000269|PubMed:12080054, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17525341, ECO:0000269|PubMed:17525342, ECO:0000269|PubMed:17621610, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:19015238, ECO:0000269|PubMed:19202061, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19328070, ECO:0000269|PubMed:24627472, ECO:0000269|Ref.38}.
Q96RS0 TGS1 S422 ochoa Trimethylguanosine synthase (EC 2.1.1.-) (CLL-associated antigen KW-2) (Cap-specific guanine-N(2) methyltransferase) (Hepatocellular carcinoma-associated antigen 137) (Nuclear receptor coactivator 6-interacting protein) (PRIP-interacting protein with methyltransferase motif) (PIMT) (PIPMT) Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. {ECO:0000269|PubMed:11517327, ECO:0000269|PubMed:11912212, ECO:0000269|PubMed:16687569, ECO:0000269|PubMed:18775984}.
Q96TC7 RMDN3 S225 ochoa Regulator of microtubule dynamics protein 3 (RMD-3) (hRMD-3) (Cerebral protein 10) (Protein FAM82A2) (Protein FAM82C) (Protein tyrosine phosphatase-interacting protein 51) (TCPTP-interacting protein 51) Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis. {ECO:0000269|PubMed:16820967, ECO:0000269|PubMed:22131369}.
Q99081 TCF12 S535 ochoa Transcription factor 12 (TCF-12) (Class B basic helix-loop-helix protein 20) (bHLHb20) (DNA-binding protein HTF4) (E-box-binding protein) (Transcription factor HTF-4) Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis (PubMed:32620954). {ECO:0000250|UniProtKB:Q61286, ECO:0000269|PubMed:32620954}.
Q99442 SEC62 S357 ochoa Translocation protein SEC62 (Translocation protein 1) (TP-1) (hTP-1) Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen. {ECO:0000269|PubMed:22375059, ECO:0000269|PubMed:29719251}.
Q99549 MPHOSPH8 S267 ochoa M-phase phosphoprotein 8 (Two hybrid-associated protein 3 with RanBPM) (Twa3) Heterochromatin component that specifically recognizes and binds methylated 'Lys-9' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression (PubMed:20871592, PubMed:26022416). Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2 (PubMed:26022416, PubMed:28581500). Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; these can be situated within the coding region of the gene (PubMed:20871592). Mediates down-regulation of CDH1 expression (PubMed:20871592). Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA by being recruited by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). {ECO:0000269|PubMed:20871592, ECO:0000269|PubMed:26022416, ECO:0000269|PubMed:28581500, ECO:0000269|PubMed:29211708, ECO:0000269|PubMed:30487602}.
Q99590 SCAF11 S475 ochoa Protein SCAF11 (CTD-associated SR protein 11) (Renal carcinoma antigen NY-REN-40) (SC35-interacting protein 1) (SR-related and CTD-associated factor 11) (SRSF2-interacting protein) (Serine/arginine-rich splicing factor 2-interacting protein) (Splicing factor, arginine/serine-rich 2-interacting protein) (Splicing regulatory protein 129) (SRrp129) Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. {ECO:0000269|PubMed:9447963}.
Q99590 SCAF11 S1189 ochoa Protein SCAF11 (CTD-associated SR protein 11) (Renal carcinoma antigen NY-REN-40) (SC35-interacting protein 1) (SR-related and CTD-associated factor 11) (SRSF2-interacting protein) (Serine/arginine-rich splicing factor 2-interacting protein) (Splicing factor, arginine/serine-rich 2-interacting protein) (Splicing regulatory protein 129) (SRrp129) Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. {ECO:0000269|PubMed:9447963}.
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}.
Q99661 KIF2C S633 ochoa|psp Kinesin-like protein KIF2C (Kinesin-like protein 6) (Mitotic centromere-associated kinesin) (MCAK) In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells (PubMed:21820309). Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis (PubMed:19060894). Plays a role in chromosome congression and is required for the lateral to end-on conversion of the chromosome-microtubule attachment (PubMed:23891108). {ECO:0000269|PubMed:19060894, ECO:0000269|PubMed:21820309, ECO:0000269|PubMed:23891108}.
Q9BQ67 GRWD1 S26 ochoa Glutamate-rich WD repeat-containing protein 1 Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness (PubMed:25990725). {ECO:0000269|PubMed:25990725}.
Q9BSV6 TSEN34 S136 ochoa tRNA-splicing endonuclease subunit Sen34 (EC 4.6.1.16) (Leukocyte receptor cluster member 5) (tRNA-intron endonuclease Sen34) (HsSen34) Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. {ECO:0000269|PubMed:15109492}.
Q9BW71 HIRIP3 S301 ochoa HIRA-interacting protein 3 Histone chaperone that carries a H2A-H2B histone complex and facilitates its deposition onto chromatin. {ECO:0000269|PubMed:38334665, ECO:0000269|PubMed:9710638}.
Q9BZ72 PITPNM2 S702 ochoa Membrane-associated phosphatidylinositol transfer protein 2 (Phosphatidylinositol transfer protein, membrane-associated 2) (PITPnm 2) (Pyk2 N-terminal domain-interacting receptor 3) (NIR-3) Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions. {ECO:0000269|PubMed:10022914}.
Q9C0D0 PHACTR1 S187 ochoa Phosphatase and actin regulator 1 Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity). {ECO:0000250|UniProtKB:Q2M3X8, ECO:0000269|PubMed:21798305, ECO:0000269|PubMed:21939755}.
Q9H000 MKRN2 S366 ochoa E3 ubiquitin-protein ligase makorin-2 (EC 2.3.2.27) (RING finger protein 62) (RING-type E3 ubiquitin transferase makorin-2) E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity). Promotes the polyubiquitination and proteasome-dependent degradation of RELA/p65, thereby suppressing RELA-mediated NF-kappaB transactivation and negatively regulating inflammatory responses (By similarity). Plays a role in the regulation of spermiation and in male fertility (By similarity). {ECO:0000250|UniProtKB:Q9ERV1}.
Q9H019 MTFR1L S234 ochoa Mitochondrial fission regulator 1-like Mitochondrial protein required for adaptation of miochondrial dynamics to metabolic changes. Regulates mitochondrial morphology at steady state and mediates AMPK-dependent stress-induced mitochondrial fragmentation via the control of OPA1 levels. {ECO:0000269|PubMed:36367943}.
Q9H0K1 SIK2 S343 ochoa|psp Serine/threonine-protein kinase SIK2 (EC 2.7.11.1) (Qin-induced kinase) (Salt-inducible kinase 2) (SIK-2) (Serine/threonine-protein kinase SNF1-like kinase 2) Serine/threonine-protein kinase that plays a role in many biological processes such as fatty acid oxidation, autophagy, immune response or glucose metabolism (PubMed:23322770, PubMed:26983400). Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators (PubMed:15454081). Phosphorylates EP300 and thus inhibits its histone acetyltransferase activity (PubMed:21084751, PubMed:26983400). In turn, regulates the DNA-binding ability of several transcription factors such as PPARA or MLXIPL (PubMed:21084751, PubMed:26983400). Also plays a role in thymic T-cell development (By similarity). {ECO:0000250|UniProtKB:Q8CFH6, ECO:0000269|PubMed:15454081, ECO:0000269|PubMed:21084751, ECO:0000269|PubMed:23322770, ECO:0000269|PubMed:26983400}.
Q9H410 DSN1 S58 ochoa Kinetochore-associated protein DSN1 homolog Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}.
Q9H967 WDR76 S114 ochoa WD repeat-containing protein 76 Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. {ECO:0000250}.
Q9HBG4 ATP6V0A4 S690 ochoa V-type proton ATPase 116 kDa subunit a 4 (V-ATPase 116 kDa isoform a 4) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4) (Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform) Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transport into the urine by the kidney (PubMed:10973252, PubMed:12414817). {ECO:0000250|UniProtKB:Q29466, ECO:0000250|UniProtKB:Q93050, ECO:0000269|PubMed:10973252, ECO:0000269|PubMed:12414817}.
Q9HCG8 CWC22 S108 ochoa Pre-mRNA-splicing factor CWC22 homolog (Nucampholin homolog) (fSAPb) Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:12226669, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Promotes exon-junction complex (EJC) assembly (PubMed:22959432, PubMed:22961380). Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12226669, ECO:0000269|PubMed:22959432, ECO:0000269|PubMed:22961380, ECO:0000269|PubMed:23236153, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000305|PubMed:33509932}.
Q9HCM3 KIAA1549 S1924 ochoa UPF0606 protein KIAA1549 May play a role in photoreceptor function. {ECO:0000269|PubMed:30120214}.
Q9NQG5 RPRD1B Y165 ochoa Regulation of nuclear pre-mRNA domain-containing protein 1B (Cell cycle-related and expression-elevated protein in tumor) Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the promoter through promotion of the formation of a chromatin loop. Also enhances the transcription of a number of other cell cycle-related genes including CDK2, CDK4, CDK6 and cyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cell proliferation. {ECO:0000269|PubMed:22231121, ECO:0000269|PubMed:22264791, ECO:0000269|PubMed:24399136, ECO:0000269|PubMed:24997600}.
Q9NRZ9 HELLS S165 ochoa Lymphoid-specific helicase (EC 3.6.4.-) (Proliferation-associated SNF2-like protein) (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6) Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). {ECO:0000250|UniProtKB:Q60848}.
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}.
Q9NUY8 TBC1D23 S568 ochoa TBC1 domain family member 23 (HCV non-structural protein 4A-transactivated protein 1) Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707). Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865). Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity). {ECO:0000250|UniProtKB:Q8K0F1, ECO:0000269|PubMed:28823707, ECO:0000269|PubMed:29084197, ECO:0000269|PubMed:29426865}.
Q9NVI1 FANCI S1121 ochoa|psp Fanconi anemia group I protein (Protein FACI) Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites (PubMed:17412408, PubMed:17460694, PubMed:17452773, PubMed:19111657, PubMed:36385258). The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA (PubMed:19589784). Participates in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:25862789). {ECO:0000250|UniProtKB:B0I564, ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:25862789, ECO:0000269|PubMed:36385258}.
Q9NWH9 SLTM S789 ochoa SAFB-like transcription modulator (Modulator of estrogen-induced transcription) When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis. {ECO:0000250}.
Q9NX94 WBP1L S228 ochoa WW domain binding protein 1-like (Outcome predictor in acute leukemia 1) None
Q9NZB2 FAM120A S1045 ochoa Constitutive coactivator of PPAR-gamma-like protein 1 (Oxidative stress-associated SRC activator) (Protein FAM120A) Component of the oxidative stress-induced survival signaling. May regulate the activation of SRC family protein kinases (PubMed:19015244). May act as a scaffolding protein enabling SRC family protein kinases to phosphorylate and activate PI3-kinase (PubMed:19015244). Binds IGF2 RNA and promotes the production of IGF2 protein (PubMed:19015244). {ECO:0000269|PubMed:19015244}.
Q9NZQ3 NCKIPSD S151 ochoa NCK-interacting protein with SH3 domain (54 kDa VacA-interacting protein) (54 kDa vimentin-interacting protein) (VIP54) (90 kDa SH3 protein interacting with Nck) (AF3p21) (Dia-interacting protein 1) (DIP-1) (Diaphanous protein-interacting protein) (SH3 adapter protein SPIN90) (WASP-interacting SH3-domain protein) (WISH) (Wiskott-Aldrich syndrome protein-interacting protein) Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis. {ECO:0000250, ECO:0000269|PubMed:22419821}.
Q9P246 STIM2 S344 ochoa Stromal interaction molecule 2 Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx. {ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16860747, ECO:0000269|PubMed:17905723, ECO:0000269|PubMed:18160041, ECO:0000269|PubMed:21217057, ECO:0000269|PubMed:22464749, ECO:0000269|PubMed:23359669}.
Q9P258 RCC2 S45 ochoa Protein RCC2 (RCC1-like protein TD-60) (Telophase disk protein of 60 kDa) Multifunctional protein that may affect its functions by regulating the activity of small GTPases, such as RAC1 and RALA (PubMed:12919680, PubMed:25074804, PubMed:26158537, PubMed:28869598). Required for normal progress through the cell cycle, both during interphase and during mitosis (PubMed:12919680, PubMed:23388455, PubMed:26158537). Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles (PubMed:12919680, PubMed:26158537). Required for normal organization of the microtubule cytoskeleton in interphase cells (PubMed:23388455). Functions as guanine nucleotide exchange factor (GEF) for RALA (PubMed:26158537). Interferes with the activation of RAC1 by guanine nucleotide exchange factors (PubMed:25074804). Prevents accumulation of active, GTP-bound RAC1, and suppresses RAC1-mediated reorganization of the actin cytoskeleton and formation of membrane protrusions (PubMed:25074804, PubMed:28869598). Required for normal cellular responses to contacts with the extracellular matrix of adjacent cells, and for directional cell migration in response to a fibronectin gradient (in vitro) (PubMed:25074804, PubMed:28869598). {ECO:0000269|PubMed:12919680, ECO:0000269|PubMed:23388455, ECO:0000269|PubMed:25074804, ECO:0000269|PubMed:26158537, ECO:0000269|PubMed:28869598}.
Q9P266 JCAD S629 ochoa Junctional cadherin 5-associated protein (Junctional protein associated with coronary artery disease) (JCAD) None
Q9UBW5 BIN2 S91 ochoa Bridging integrator 2 (Breast cancer-associated protein 1) Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis. {ECO:0000269|PubMed:23285027}.
Q9UDY2 TJP2 S441 ochoa Tight junction protein 2 (Tight junction protein ZO-2) (Zona occludens protein 2) (Zonula occludens protein 2) Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity). {ECO:0000250|UniProtKB:Q9Z0U1}.
Q9UDY2 TJP2 Y1013 ochoa Tight junction protein 2 (Tight junction protein ZO-2) (Zona occludens protein 2) (Zonula occludens protein 2) Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity). {ECO:0000250|UniProtKB:Q9Z0U1}.
Q9UHB7 AFF4 S595 ochoa AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein) Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}.
Q9UHX1 PUF60 S446 ochoa Poly(U)-binding-splicing factor PUF60 (60 kDa poly(U)-binding-splicing factor) (FUSE-binding protein-interacting repressor) (FBP-interacting repressor) (Ro-binding protein 1) (RoBP1) (Siah-binding protein 1) (Siah-BP1) DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with RO60. Binds to poly(U) RNA. {ECO:0000269|PubMed:10606266, ECO:0000269|PubMed:10882074, ECO:0000269|PubMed:11239393, ECO:0000269|PubMed:16452196, ECO:0000269|PubMed:16628215, ECO:0000269|PubMed:17579712}.
Q9UIQ6 LNPEP S73 ochoa Leucyl-cystinyl aminopeptidase (Cystinyl aminopeptidase) (EC 3.4.11.3) (Insulin-regulated membrane aminopeptidase) (Insulin-responsive aminopeptidase) (IRAP) (Oxytocinase) (OTase) (Placental leucine aminopeptidase) (P-LAP) [Cleaved into: Leucyl-cystinyl aminopeptidase, pregnancy serum form] Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain. {ECO:0000269|PubMed:11389728, ECO:0000269|PubMed:11707427, ECO:0000269|PubMed:1731608}.
Q9UKV3 ACIN1 S377 ochoa Apoptotic chromatin condensation inducer in the nucleus (Acinus) Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}.
Q9ULC3 RAB23 S187 ochoa Ras-related protein Rab-23 (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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes. {ECO:0000269|PubMed:22365972, ECO:0000269|PubMed:22452336}.
Q9ULJ3 ZBTB21 S516 ochoa Zinc finger and BTB domain-containing protein 21 (Zinc finger protein 295) Acts as a transcription repressor. {ECO:0000269|PubMed:15629158}.
Q9UNL4 ING4 S125 ochoa Inhibitor of growth protein 4 (p29ING4) Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653). Through chromatin acetylation it may function in DNA replication (PubMed:16387653). May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation (PubMed:15251430, PubMed:15528276). Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA (PubMed:15029197). May also specifically suppress loss of contact inhibition elicited by activated oncogenes such as MYC (PubMed:15029197). Represses hypoxia inducible factor's (HIF) activity by interacting with HIF prolyl hydroxylase 2 (EGLN1) (PubMed:15897452). Can enhance apoptosis induced by serum starvation in mammary epithelial cell line HC11 (By similarity). {ECO:0000250|UniProtKB:Q8C0D7, ECO:0000269|PubMed:15029197, ECO:0000269|PubMed:15251430, ECO:0000269|PubMed:15528276, ECO:0000269|PubMed:15897452, ECO:0000269|PubMed:16387653}.
Q9UNY4 TTF2 S236 ochoa Transcription termination factor 2 (EC 3.6.4.-) (Lodestar homolog) (RNA polymerase II termination factor) (Transcription release factor 2) (F2) (HuF2) DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing. {ECO:0000269|PubMed:10455150, ECO:0000269|PubMed:12927788, ECO:0000269|PubMed:15125840, ECO:0000269|PubMed:9748214}.
Q9UPZ3 HPS5 S433 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}.
Q9UQE7 SMC3 S1086 ochoa Structural maintenance of chromosomes protein 3 (SMC protein 3) (SMC-3) (Basement membrane-associated chondroitin proteoglycan) (Bamacan) (Chondroitin sulfate proteoglycan 6) (Chromosome-associated polypeptide) (hCAP) Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex also plays an important role in spindle pole assembly during mitosis and in chromosomes movement. {ECO:0000269|PubMed:11076961, ECO:0000269|PubMed:19907496}.
Q9UQR0 SCML2 S546 ochoa Sex comb on midleg-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 (By similarity). {ECO:0000250}.
Q9Y294 ASF1A S166 ochoa|psp Histone chaperone ASF1A (Anti-silencing function protein 1 homolog A) (hAsf1) (hAsf1a) (CCG1-interacting factor A) (CIA) (hCIA) Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly (PubMed:10759893, PubMed:11897662, PubMed:12842904, PubMed:14718166, PubMed:15664198, PubMed:16151251, PubMed:21454524). Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly (PubMed:11897662, PubMed:14718166, PubMed:15664198). Promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks: acts by mediating histone replacement at DSBs, leading to recruitment of the MMS22L-TONSL complex and subsequent loading of RAD51 (PubMed:29478807). Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' and acetylation at 'Lys-14' (H3K9me1K14ac) marks, and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5K12ac) marks in the cytosol (PubMed:21454524, PubMed:29408485). Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit (PubMed:15621527). {ECO:0000269|PubMed:10759893, ECO:0000269|PubMed:11897662, ECO:0000269|PubMed:12842904, ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:15621527, ECO:0000269|PubMed:15664198, ECO:0000269|PubMed:16151251, ECO:0000269|PubMed:21454524, ECO:0000269|PubMed:29408485, ECO:0000269|PubMed:29478807}.
Q9Y2K6 USP20 S290 ochoa Ubiquitin carboxyl-terminal hydrolase 20 (EC 3.4.19.12) (Deubiquitinating enzyme 20) (Ubiquitin thioesterase 20) (Ubiquitin-specific-processing protease 20) (VHL-interacting deubiquitinating enzyme 2) (hVDU2) Deubiquitinating enzyme that plays a role in many cellular processes including autophagy, cellular antiviral response or membrane protein biogenesis (PubMed:27801882, PubMed:29487085). Attenuates TLR4-mediated NF-kappa-B signaling by cooperating with beta-arrestin-2/ARRB2 and inhibiting TRAF6 autoubiquitination (PubMed:26839314). Promotes cellular antiviral responses by deconjugating 'Lys-33' and 'Lys-48'-linked ubiquitination of STING1 leading to its stabilization (PubMed:27801882). Plays an essential role in autophagy induction by regulating the ULK1 stability through deubiquitination of ULK1 (PubMed:29487085). Acts as a positive regulator for NF-kappa-B activation by TNF-alpha through deubiquitinating 'Lys-48'-linked polyubiquitination of SQSTM1, leading to its increased stability (PubMed:32354117). Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2) (PubMed:19424180). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2 (PubMed:19424180). This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity (PubMed:15776016). Deubiquitinates MCL1, a pivotal member of the anti-apoptotic Bcl-2 protein family to regulate its stability (PubMed:35063767). Within the endoplasmic reticulum, participates with USP33 in the rescue of post-translationally targeted membrane proteins that are inappropriately ubiquitinated by the cytosolic protein quality control in the cytosol (PubMed:33792613). {ECO:0000269|PubMed:12056827, ECO:0000269|PubMed:12865408, ECO:0000269|PubMed:15776016, ECO:0000269|PubMed:19424180, ECO:0000269|PubMed:26839314, ECO:0000269|PubMed:27801882, ECO:0000269|PubMed:29487085, ECO:0000269|PubMed:32354117, ECO:0000269|PubMed:33792613, ECO:0000269|PubMed:35063767}.
Q9Y2L6 FRMD4B S628 ochoa FERM domain-containing protein 4B (GRP1-binding protein GRSP1) Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization. {ECO:0000250|UniProtKB:Q920B0}.
Q9Y2X9 ZNF281 S784 ochoa Zinc finger protein 281 (GC-box-binding zinc finger protein 1) (Transcription factor ZBP-99) (Zinc finger DNA-binding protein 99) Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes. {ECO:0000250, ECO:0000269|PubMed:10448078, ECO:0000269|PubMed:12771217}.
Q9Y2Y0 ARL2BP S141 ochoa ADP-ribosylation factor-like protein 2-binding protein (ARF-like 2-binding protein) (ARL2-binding protein) (Binder of ARF2 protein 1) Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2. {ECO:0000269|PubMed:18234692}.
Q9Y3B9 RRP15 S85 ochoa RRP15-like protein (Ribosomal RNA-processing protein 15) None
Q9Y4C8 RBM19 S494 ochoa Probable RNA-binding protein 19 (RNA-binding motif protein 19) Plays a role in embryo pre-implantation development. {ECO:0000250}.
Q9Y4H2 IRS2 S644 ochoa Insulin receptor substrate 2 (IRS-2) Signaling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R (PubMed:25879670). Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism (PubMed:24616100). Upon phosphorylation by the insulin receptor, functions as a signaling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2 (PubMed:15316008, PubMed:19109239). Recruitment of GRB2 leads to the activation of the guanine nucleotide exchange factor SOS1 which in turn triggers the Ras/Raf/MEK/MAPK signaling cascade (By similarity). Activation of the PI3K/AKT pathway is responsible for most of insulin metabolic effects in the cell, and the Ras/Raf/MEK/MAPK is involved in the regulation of gene expression and in cooperation with the PI3K pathway regulates cell growth and differentiation. Acts a positive regulator of the Wnt/beta-catenin signaling pathway through suppression of DVL2 autophagy-mediated degradation leading to cell proliferation (PubMed:24616100). Plays a role in cell cycle progression by promoting a robust spindle assembly checkpoint (SAC) during M-phase (PubMed:32554797). In macrophages, IL4-induced tyrosine phosphorylation of IRS2 leads to the recruitment and activation of phosphoinositide 3-kinase (PI3K) (PubMed:19109239). {ECO:0000250|UniProtKB:P35570, ECO:0000269|PubMed:15316008, ECO:0000269|PubMed:19109239, ECO:0000269|PubMed:24616100, ECO:0000269|PubMed:25879670, ECO:0000269|PubMed:32554797}.
Q9Y4H2 IRS2 S1186 ochoa Insulin receptor substrate 2 (IRS-2) Signaling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R (PubMed:25879670). Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism (PubMed:24616100). Upon phosphorylation by the insulin receptor, functions as a signaling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2 (PubMed:15316008, PubMed:19109239). Recruitment of GRB2 leads to the activation of the guanine nucleotide exchange factor SOS1 which in turn triggers the Ras/Raf/MEK/MAPK signaling cascade (By similarity). Activation of the PI3K/AKT pathway is responsible for most of insulin metabolic effects in the cell, and the Ras/Raf/MEK/MAPK is involved in the regulation of gene expression and in cooperation with the PI3K pathway regulates cell growth and differentiation. Acts a positive regulator of the Wnt/beta-catenin signaling pathway through suppression of DVL2 autophagy-mediated degradation leading to cell proliferation (PubMed:24616100). Plays a role in cell cycle progression by promoting a robust spindle assembly checkpoint (SAC) during M-phase (PubMed:32554797). In macrophages, IL4-induced tyrosine phosphorylation of IRS2 leads to the recruitment and activation of phosphoinositide 3-kinase (PI3K) (PubMed:19109239). {ECO:0000250|UniProtKB:P35570, ECO:0000269|PubMed:15316008, ECO:0000269|PubMed:19109239, ECO:0000269|PubMed:24616100, ECO:0000269|PubMed:25879670, ECO:0000269|PubMed:32554797}.
Q9Y520 PRRC2C S1545 ochoa Protein PRRC2C (BAT2 domain-containing protein 1) (HBV X-transactivated gene 2 protein) (HBV XAg-transactivated protein 2) (HLA-B-associated transcript 2-like 2) (Proline-rich and coiled-coil-containing protein 2C) Required for efficient formation of stress granules. {ECO:0000269|PubMed:29395067}.
Q9Y6R1 SLC4A4 S79 ochoa Electrogenic sodium bicarbonate cotransporter 1 (Sodium bicarbonate cotransporter) (Na(+)/HCO3(-) cotransporter) (Solute carrier family 4 member 4) (kNBC1) Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269|PubMed:10069984, ECO:0000269|PubMed:11744745, ECO:0000269|PubMed:12411514, ECO:0000269|PubMed:12730338, ECO:0000269|PubMed:12907161, ECO:0000269|PubMed:14567693, ECO:0000269|PubMed:15218065, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:15817634, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:23324180, ECO:0000269|PubMed:23636456, ECO:0000269|PubMed:29500354, ECO:0000269|PubMed:9235899, ECO:0000269|PubMed:9651366}.
P35613 BSG S279 Sugiyama Basigin (5F7) (Collagenase stimulatory factor) (Extracellular matrix metalloproteinase inducer) (EMMPRIN) (Hepatoma-associated antigen) (HAb18G) (Leukocyte activation antigen M6) (OK blood group antigen) (Tumor cell-derived collagenase stimulatory factor) (TCSF) (CD antigen CD147) [Isoform 1]: Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857). {ECO:0000250|UniProtKB:P18572, ECO:0000269|PubMed:21620857, ECO:0000269|PubMed:25957687}.; FUNCTION: [Isoform 1]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7 and Dd2. {ECO:0000269|PubMed:22080952}.; FUNCTION: [Isoform 2]: Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11688976, PubMed:11943775). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:11992541, PubMed:12553375, PubMed:15833850). {ECO:0000269|PubMed:11688976, ECO:0000269|PubMed:11943775, ECO:0000269|PubMed:11992541, ECO:0000269|PubMed:12553375, ECO:0000269|PubMed:15833850, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:19837976, ECO:0000269|PubMed:21778275, ECO:0000269|PubMed:25825981, ECO:0000269|PubMed:28666119}.; FUNCTION: [Isoform 2]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866). {ECO:0000269|PubMed:22080952, ECO:0000269|PubMed:26195724, ECO:0000269|PubMed:28409866}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:15688292}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:11353871}.; FUNCTION: [Isoform 2]: (Microbial infection) First described as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is not required for SARS-CoV-2 infection. {ECO:0000269|PubMed:33432067, ECO:0000303|PubMed:32307653}.; FUNCTION: [Isoform 2]: (Microbial infection) Acts as a receptor for measles virus. {ECO:0000269|PubMed:20147391}.; FUNCTION: [Isoform 2]: (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells. {ECO:0000269|PubMed:29739904}.
P07900 HSP90AA1 S165 Sugiyama Heat shock protein HSP 90-alpha (EC 3.6.4.10) (Heat shock 86 kDa) (HSP 86) (HSP86) (Heat shock protein family C member 1) (Lipopolysaccharide-associated protein 2) (LAP-2) (LPS-associated protein 2) (Renal carcinoma antigen NY-REN-38) Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:11274138, PubMed:12526792, PubMed:15577939, PubMed:15937123, PubMed:27353360, PubMed:29127155). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself (PubMed:29127155). Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:26991466, PubMed:27295069). Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70 (PubMed:12526792). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels (PubMed:25973397). In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues (PubMed:25973397). Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment (PubMed:25973397). Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Mediates the association of TOMM70 with IRF3 or TBK1 in mitochondrial outer membrane which promotes host antiviral response (PubMed:20628368, PubMed:25609812). {ECO:0000269|PubMed:11274138, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:12526792, ECO:0000269|PubMed:15577939, ECO:0000269|PubMed:15937123, ECO:0000269|PubMed:20628368, ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:25609812, ECO:0000269|PubMed:27353360, ECO:0000269|PubMed:29127155, ECO:0000303|PubMed:25973397, ECO:0000303|PubMed:26991466, ECO:0000303|PubMed:27295069}.; FUNCTION: (Microbial infection) Seems to interfere with N.meningitidis NadA-mediated invasion of human cells. Decreasing HSP90 levels increases adhesion and entry of E.coli expressing NadA into human Chang cells; increasing its levels leads to decreased adhesion and invasion. {ECO:0000305|PubMed:22066472}.
P08238 HSP90AB1 S160 Sugiyama Heat shock protein HSP 90-beta (HSP 90) (Heat shock 84 kDa) (HSP 84) (HSP84) (Heat shock protein family C member 3) Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:16478993, PubMed:19696785). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:26991466, PubMed:27295069). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels. They first alter the steady-state levels of certain transcription factors in response to various physiological cues. Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment. Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Promotes cell differentiation by chaperoning BIRC2 and thereby protecting from auto-ubiquitination and degradation by the proteasomal machinery (PubMed:18239673). Main chaperone involved in the phosphorylation/activation of the STAT1 by chaperoning both JAK2 and PRKCE under heat shock and in turn, activates its own transcription (PubMed:20353823). Involved in the translocation into ERGIC (endoplasmic reticulum-Golgi intermediate compartment) of leaderless cargos (lacking the secretion signal sequence) such as the interleukin 1/IL-1; the translocation process is mediated by the cargo receptor TMED10 (PubMed:32272059). {ECO:0000269|PubMed:16478993, ECO:0000269|PubMed:18239673, ECO:0000269|PubMed:19696785, ECO:0000269|PubMed:20353823, ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:32272059, ECO:0000303|PubMed:25973397, ECO:0000303|PubMed:26991466, ECO:0000303|PubMed:27295069}.; FUNCTION: (Microbial infection) Binding to N.meningitidis NadA stimulates monocytes (PubMed:21949862). Seems to interfere with N.meningitidis NadA-mediated invasion of human cells (Probable). {ECO:0000269|PubMed:21949862, ECO:0000305|PubMed:22066472}.
Q14568 HSP90AA2P S165 Sugiyama Heat shock protein HSP 90-alpha A2 (Heat shock 90 kDa protein 1 alpha-like 3) (Heat shock protein HSP 90-alpha A2 pseudogene) (Heat shock protein family C member 2) Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. {ECO:0000250}.
Q9Y285 FARSA S199 Sugiyama Phenylalanine--tRNA ligase alpha subunit (EC 6.1.1.20) (CML33) (Phenylalanyl-tRNA synthetase alpha subunit) (PheRS) None
P38646 HSPA9 S550 Sugiyama Stress-70 protein, mitochondrial (EC 3.6.4.10) (75 kDa glucose-regulated protein) (GRP-75) (Heat shock 70 kDa protein 9) (Heat shock protein family A member 9) (Mortalin) (MOT) (Peptide-binding protein 74) (PBP74) Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Plays an essential role in the protein quality control system, the correct folding of proteins, the re-folding of misfolded proteins, and the targeting of proteins for subsequent degradation. These processes are achieved through cycles of ATP binding, ATP hydrolysis, and ADP release, mediated by co-chaperones (PubMed:18632665, PubMed:25615450, PubMed:28848044, PubMed:30933555, PubMed:31177526). In mitochondria, it associates with the TIM (translocase of the inner membrane) protein complex to assist in the import and folding of mitochondrial proteins (By similarity). Plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis, interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). Regulates mitochondrial calcium-dependent apoptosis by coupling two calcium channels, ITPR1 and VDAC1, at the mitochondria-associated endoplasmic reticulum (ER) membrane to facilitate calcium transport from the ER lumen to the mitochondria intermembrane space, providing calcium for the downstream calcium channel MCU, which releases it into the mitochondrial matrix (By similarity). Although primarily located in the mitochondria, it is also found in other cellular compartments. In the cytosol, it associates with proteins involved in signaling, apoptosis, or senescence. It may play a role in cell cycle regulation via its interaction with and promotion of degradation of TP53 (PubMed:24625977, PubMed:26634371). May play a role in the control of cell proliferation and cellular aging (By similarity). Protects against reactive oxygen species (ROS) (By similarity). Extracellular HSPA9 plays a cytoprotective role by preventing cell lysis following immune attack by the membrane attack complex by disrupting formation of the complex (PubMed:16091382). {ECO:0000250|UniProtKB:P0CS90, ECO:0000250|UniProtKB:P38647, ECO:0000269|PubMed:16091382, ECO:0000269|PubMed:18632665, ECO:0000269|PubMed:21123823, ECO:0000269|PubMed:24625977, ECO:0000269|PubMed:25615450, ECO:0000269|PubMed:26634371, ECO:0000269|PubMed:26702583, ECO:0000269|PubMed:28848044, ECO:0000269|PubMed:30933555, ECO:0000269|PubMed:31177526}.
Q6PHR2 ULK3 S351 Sugiyama Serine/threonine-protein kinase ULK3 (EC 2.7.11.1) (Unc-51-like kinase 3) Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as well as GLI1 and GLI3, although less efficiently. Also acts as a regulator of autophagy: following cellular senescence, able to induce autophagy. {ECO:0000269|PubMed:19279323, ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:20643644}.
Q9Y262 EIF3L S81 Sugiyama Eukaryotic translation initiation factor 3 subunit L (eIF3l) (Eukaryotic translation initiation factor 3 subunit 6-interacting protein) (Eukaryotic translation initiation factor 3 subunit E-interacting protein) Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03011, ECO:0000269|PubMed:17581632, 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}.
P42704 LRPPRC S1027 Sugiyama Leucine-rich PPR motif-containing protein, mitochondrial (130 kDa leucine-rich protein) (LRP 130) (GP130) May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. Positively modulates nuclear export of mRNAs containing the EIF4E sensitivity element (4ESE) by binding simultaneously to both EIF4E and the 4ESE and acting as a platform for assembly for the RNA export complex (PubMed:19262567, PubMed:28325843). Also binds to exportin XPO1/CRM1 to engage the nuclear pore and traffic the bound mRNAs to the cytoplasm (PubMed:28325843). May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity). Required for maintaining mitochondrial potential (PubMed:23822101). Suppresses the initiation of basal levels of autophagy and mitophagy by sustaining BCL2 levels (PubMed:23822101). {ECO:0000250, ECO:0000269|PubMed:11585913, ECO:0000269|PubMed:12832482, ECO:0000269|PubMed:15081402, ECO:0000269|PubMed:15139850, ECO:0000269|PubMed:15272088, ECO:0000269|PubMed:17050673, ECO:0000269|PubMed:19262567, ECO:0000269|PubMed:23822101, ECO:0000269|PubMed:28325843}.
Q9BYP7 WNK3 S425 Sugiyama Serine/threonine-protein kinase WNK3 (EC 2.7.11.1) (Protein kinase lysine-deficient 3) (Protein kinase with no lysine 3) Serine/threonine-protein kinase component of the WNK3-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis and regulatory volume increase in response to hyperosmotic stress (PubMed:16275911, PubMed:16275913, PubMed:16501604, PubMed:22989884, PubMed:36318922). WNK3 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation (PubMed:36318922). The membraneless compartment concentrates WNK3 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK3-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (PubMed:22989884). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A4/KCC1, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:16275911, PubMed:16275913). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A4/KCC1, SLC12A5/KCC2 and SLC12A6/KCC3 inhibits its activity, blocking ion efflux (PubMed:16275911, PubMed:16275913, PubMed:16357011, PubMed:19470686, PubMed:21613606). Phosphorylates WNK4, possibly regulating the activity of SLC12A3/NCC (PubMed:17975670). May also phosphorylate NEDD4L (PubMed:20525693). Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels, such as KCNJ1 and SLC26A9 (PubMed:16357011, PubMed:17673510). Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway (PubMed:18768590). {ECO:0000269|PubMed:16275911, ECO:0000269|PubMed:16275913, ECO:0000269|PubMed:16357011, ECO:0000269|PubMed:16501604, ECO:0000269|PubMed:17673510, ECO:0000269|PubMed:17975670, ECO:0000269|PubMed:18768590, ECO:0000269|PubMed:19470686, ECO:0000269|PubMed:20525693, ECO:0000269|PubMed:21613606, ECO:0000269|PubMed:22989884, ECO:0000269|PubMed:36318922}.
Download
reactome_id name p -log10_p
R-HSA-72163 mRNA Splicing - Major Pathway 0.000039 4.405
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA 0.000025 4.601
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins 0.000031 4.506
R-HSA-8953854 Metabolism of RNA 0.000036 4.445
R-HSA-111465 Apoptotic cleavage of cellular proteins 0.000035 4.453
R-HSA-72172 mRNA Splicing 0.000065 4.186
R-HSA-2500257 Resolution of Sister Chromatid Cohesion 0.000065 4.187
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory si... 0.000138 3.860
R-HSA-141424 Amplification of signal from the kinetochores 0.000138 3.860
R-HSA-68877 Mitotic Prometaphase 0.000156 3.808
R-HSA-9018519 Estrogen-dependent gene expression 0.000178 3.749
R-HSA-75153 Apoptotic execution phase 0.000236 3.627
R-HSA-69618 Mitotic Spindle Checkpoint 0.000417 3.380
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes 0.000468 3.330
R-HSA-2467813 Separation of Sister Chromatids 0.000683 3.165
R-HSA-9648025 EML4 and NUDC in mitotic spindle formation 0.000727 3.138
R-HSA-3371556 Cellular response to heat stress 0.001451 2.838
R-HSA-68882 Mitotic Anaphase 0.001404 2.853
R-HSA-2555396 Mitotic Metaphase and Anaphase 0.001451 2.838
R-HSA-68886 M Phase 0.001933 2.714
R-HSA-109581 Apoptosis 0.002363 2.627
R-HSA-182971 EGFR downregulation 0.002910 2.536
R-HSA-9854907 Regulation of MITF-M dependent genes involved in metabolism 0.002896 2.538
R-HSA-1640170 Cell Cycle 0.002731 2.564
R-HSA-72649 Translation initiation complex formation 0.003143 2.503
R-HSA-5357801 Programmed Cell Death 0.003200 2.495
R-HSA-72702 Ribosomal scanning and start codon recognition 0.003592 2.445
R-HSA-8875360 InlB-mediated entry of Listeria monocytogenes into host cell 0.003478 2.459
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and sub... 0.004086 2.389
R-HSA-191859 snRNP Assembly 0.004351 2.361
R-HSA-194441 Metabolism of non-coding RNA 0.004351 2.361
R-HSA-69620 Cell Cycle Checkpoints 0.004832 2.316
R-HSA-9613829 Chaperone Mediated Autophagy 0.005895 2.230
R-HSA-6807004 Negative regulation of MET activity 0.007400 2.131
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions 0.007188 2.143
R-HSA-8939211 ESR-mediated signaling 0.007891 2.103
R-HSA-8876384 Listeria monocytogenes entry into host cells 0.009112 2.040
R-HSA-674695 RNA Polymerase II Pre-transcription Events 0.009913 2.004
R-HSA-3371453 Regulation of HSF1-mediated heat shock response 0.009300 2.032
R-HSA-2470946 Cohesin Loading onto Chromatin 0.011004 1.958
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex 0.010760 1.968
R-HSA-5336415 Uptake and function of diphtheria toxin 0.011004 1.958
R-HSA-3700989 Transcriptional Regulation by TP53 0.010333 1.986
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit 0.012204 1.913
R-HSA-156827 L13a-mediated translational silencing of Ceruloplasmin expression 0.012204 1.913
R-HSA-5693571 Nonhomologous End-Joining (NHEJ) 0.012150 1.915
R-HSA-69278 Cell Cycle, Mitotic 0.011753 1.930
R-HSA-9825895 Regulation of MITF-M-dependent genes involved in DNA replication, damage repair ... 0.013180 1.880
R-HSA-162599 Late Phase of HIV Life Cycle 0.013811 1.860
R-HSA-428543 Inactivation of CDC42 and RAC1 0.015526 1.809
R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release 0.015543 1.808
R-HSA-9834752 Respiratory syncytial virus genome replication 0.015526 1.809
R-HSA-1221632 Meiotic synapsis 0.016114 1.793
R-HSA-72737 Cap-dependent Translation Initiation 0.017383 1.760
R-HSA-72613 Eukaryotic Translation Initiation 0.017383 1.760
R-HSA-8878171 Transcriptional regulation by RUNX1 0.016412 1.785
R-HSA-9705683 SARS-CoV-2-host interactions 0.017195 1.765
R-HSA-2468052 Establishment of Sister Chromatid Cohesion 0.018037 1.744
R-HSA-9820962 Assembly and release of respiratory syncytial virus (RSV) virions 0.018037 1.744
R-HSA-177929 Signaling by EGFR 0.018839 1.725
R-HSA-5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC... 0.019506 1.710
R-HSA-1855196 IP3 and IP4 transport between cytosol and nucleus 0.020940 1.679
R-HSA-1855229 IP6 and IP7 transport between cytosol and nucleus 0.020940 1.679
R-HSA-168273 Influenza Viral RNA Transcription and Replication 0.020190 1.695
R-HSA-162587 HIV Life Cycle 0.021328 1.671
R-HSA-1855170 IPs transport between nucleus and cytosol 0.023977 1.620
R-HSA-159227 Transport of the SLBP independent Mature mRNA 0.023977 1.620
R-HSA-68884 Mitotic Telophase/Cytokinesis 0.023530 1.628
R-HSA-6804758 Regulation of TP53 Activity through Acetylation 0.023977 1.620
R-HSA-6784531 tRNA processing in the nucleus 0.025103 1.600
R-HSA-5633007 Regulation of TP53 Activity 0.023117 1.636
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA 0.025579 1.592
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein 0.025579 1.592
R-HSA-180746 Nuclear import of Rev protein 0.027238 1.565
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly 0.028954 1.538
R-HSA-9699150 Defective DNA double strand break response due to BARD1 loss of function 0.030816 1.511
R-HSA-5602566 TICAM1 deficiency - HSE 0.030816 1.511
R-HSA-9663199 Defective DNA double strand break response due to BRCA1 loss of function 0.030816 1.511
R-HSA-167172 Transcription of the HIV genome 0.032487 1.488
R-HSA-180910 Vpr-mediated nuclear import of PICs 0.032552 1.487
R-HSA-165054 Rev-mediated nuclear export of HIV RNA 0.034434 1.463
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript 0.036372 1.439
R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts 0.038365 1.416
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening 0.038365 1.416
R-HSA-399954 Sema3A PAK dependent Axon repulsion 0.036254 1.441
R-HSA-9706369 Negative regulation of FLT3 0.039768 1.400
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis 0.035813 1.446
R-HSA-199991 Membrane Trafficking 0.035472 1.450
R-HSA-177243 Interactions of Rev with host cellular proteins 0.038365 1.416
R-HSA-176033 Interactions of Vpr with host cellular proteins 0.038365 1.416
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus 0.040412 1.393
R-HSA-168276 NS1 Mediated Effects on Host Pathways 0.036372 1.439
R-HSA-168255 Influenza Infection 0.037732 1.423
R-HSA-211000 Gene Silencing by RNA 0.040464 1.393
R-HSA-167162 RNA Polymerase II HIV Promoter Escape 0.042514 1.371
R-HSA-167161 HIV Transcription Initiation 0.042514 1.371
R-HSA-75953 RNA Polymerase II Transcription Initiation 0.042514 1.371
R-HSA-1169408 ISG15 antiviral mechanism 0.042547 1.371
R-HSA-5619054 Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalit... 0.045867 1.339
R-HSA-5602571 TRAF3 deficiency - HSE 0.045867 1.339
R-HSA-73776 RNA Polymerase II Promoter Escape 0.046878 1.329
R-HSA-5637810 Constitutive Signaling by EGFRvIII 0.047159 1.326
R-HSA-5637812 Signaling by EGFRvIII in Cancer 0.047159 1.326
R-HSA-2028269 Signaling by Hippo 0.047159 1.326
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance 0.051454 1.289
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery 0.051454 1.289
R-HSA-1500620 Meiosis 0.059631 1.225
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic 0.058534 1.233
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network 0.056239 1.250
R-HSA-168274 Export of Viral Ribonucleoproteins from Nucleus 0.053821 1.269
R-HSA-6806834 Signaling by MET 0.050692 1.295
R-HSA-9665230 Drug resistance in ERBB2 KD mutants 0.060685 1.217
R-HSA-9652282 Drug-mediated inhibition of ERBB2 signaling 0.060685 1.217
R-HSA-9665244 Resistance of ERBB2 KD mutants to sapitinib 0.060685 1.217
R-HSA-9665251 Resistance of ERBB2 KD mutants to lapatinib 0.060685 1.217
R-HSA-9665245 Resistance of ERBB2 KD mutants to tesevatinib 0.060685 1.217
R-HSA-9665249 Resistance of ERBB2 KD mutants to afatinib 0.060685 1.217
R-HSA-9665247 Resistance of ERBB2 KD mutants to osimertinib 0.060685 1.217
R-HSA-9665246 Resistance of ERBB2 KD mutants to neratinib 0.060685 1.217
R-HSA-9665250 Resistance of ERBB2 KD mutants to AEE788 0.060685 1.217
R-HSA-9665737 Drug resistance in ERBB2 TMD/JMD mutants 0.060685 1.217
R-HSA-9665233 Resistance of ERBB2 KD mutants to trastuzumab 0.060685 1.217
R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in Cancer 0.063276 1.199
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants 0.063276 1.199
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation 0.063427 1.198
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE 0.076398 1.117
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection 0.076398 1.117
R-HSA-112382 Formation of RNA Pol II elongation complex 0.069081 1.161
R-HSA-75955 RNA Polymerase II Transcription Elongation 0.071795 1.144
R-HSA-9754678 SARS-CoV-2 modulates host translation machinery 0.074557 1.128
R-HSA-9006931 Signaling by Nuclear Receptors 0.081006 1.091
R-HSA-74160 Gene expression (Transcription) 0.082556 1.083
R-HSA-8949215 Mitochondrial calcium ion transport 0.067559 1.170
R-HSA-9694516 SARS-CoV-2 Infection 0.066999 1.174
R-HSA-2980766 Nuclear Envelope Breakdown 0.083120 1.080
R-HSA-9839394 TGFBR3 expression 0.085579 1.068
R-HSA-72689 Formation of a pool of free 40S subunits 0.086485 1.063
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at... 0.089052 1.050
R-HSA-9013957 TLR3-mediated TICAM1-dependent programmed cell death 0.089638 1.048
R-HSA-5083630 Defective LFNG causes SCDO3 0.089638 1.048
R-HSA-191650 Regulation of gap junction activity 0.089638 1.048
R-HSA-9705677 SARS-CoV-2 targets PDZ proteins in cell-cell junction 0.089638 1.048
R-HSA-9729555 Sensory perception of sour taste 0.089638 1.048
R-HSA-1643713 Signaling by EGFR in Cancer 0.090289 1.044
R-HSA-525793 Myogenesis 0.090289 1.044
R-HSA-9615933 Postmitotic nuclear pore complex (NPC) reformation 0.090289 1.044
R-HSA-5689901 Metalloprotease DUBs 0.090289 1.044
R-HSA-74713 IRS activation 0.103779 0.984
R-HSA-9673768 Signaling by membrane-tethered fusions of PDGFRA or PDGFRB 0.103779 0.984
R-HSA-9706377 FLT3 signaling by CBL mutants 0.103779 0.984
R-HSA-9842640 Signaling by LTK in cancer 0.131409 0.881
R-HSA-9027283 Erythropoietin activates STAT5 0.131409 0.881
R-HSA-5619070 Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) 0.131409 0.881
R-HSA-428890 Role of ABL in ROBO-SLIT signaling 0.144904 0.839
R-HSA-2562578 TRIF-mediated programmed cell death 0.144904 0.839
R-HSA-112412 SOS-mediated signalling 0.144904 0.839
R-HSA-72731 Recycling of eIF2:GDP 0.144904 0.839
R-HSA-1912399 Pre-NOTCH Processing in the Endoplasmic Reticulum 0.144904 0.839
R-HSA-9828211 Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation 0.158190 0.801
R-HSA-9613354 Lipophagy 0.171270 0.766
R-HSA-9014325 TICAM1,TRAF6-dependent induction of TAK1 complex 0.184148 0.735
R-HSA-9027277 Erythropoietin activates Phospholipase C gamma (PLCG) 0.184148 0.735
R-HSA-433692 Proton-coupled monocarboxylate transport 0.209309 0.679
R-HSA-9824878 Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 0.209309 0.679
R-HSA-9931512 Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters 0.209309 0.679
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription 0.221598 0.654
R-HSA-9027276 Erythropoietin activates Phosphoinositide-3-kinase (PI3K) 0.221598 0.654
R-HSA-9820865 Z-decay: degradation of maternal mRNAs by zygotically expressed factors 0.221598 0.654
R-HSA-3000484 Scavenging by Class F Receptors 0.221598 0.654
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF) 0.233697 0.631
R-HSA-9027284 Erythropoietin activates RAS 0.257336 0.589
R-HSA-937072 TRAF6-mediated induction of TAK1 complex within TLR4 complex 0.257336 0.589
R-HSA-111447 Activation of BAD and translocation to mitochondria 0.257336 0.589
R-HSA-168927 TICAM1, RIP1-mediated IKK complex recruitment 0.257336 0.589
R-HSA-450408 AUF1 (hnRNP D0) binds and destabilizes mRNA 0.146297 0.835
R-HSA-1912420 Pre-NOTCH Processing in Golgi 0.313303 0.504
R-HSA-912631 Regulation of signaling by CBL 0.313303 0.504
R-HSA-937041 IKK complex recruitment mediated by RIP1 0.313303 0.504
R-HSA-9709603 Impaired BRCA2 binding to PALB2 0.313303 0.504
R-HSA-9934037 Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) 0.323982 0.489
R-HSA-9701193 Defective homologous recombination repair (HRR) due to PALB2 loss of function 0.323982 0.489
R-HSA-9704331 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.323982 0.489
R-HSA-9704646 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.323982 0.489
R-HSA-9701192 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 0.323982 0.489
R-HSA-210991 Basigin interactions 0.334495 0.476
R-HSA-72165 mRNA Splicing - Minor Pathway 0.207393 0.683
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter 0.344846 0.462
R-HSA-8957275 Post-translational protein phosphorylation 0.093393 1.030
R-HSA-9954714 PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA 0.207270 0.683
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 0.211293 0.675
R-HSA-9954716 ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ri... 0.227550 0.643
R-HSA-192823 Viral mRNA Translation 0.264896 0.577
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane 0.285964 0.544
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus 0.334495 0.476
R-HSA-72202 Transport of Mature Transcript to Cytoplasm 0.168140 0.774
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of lig... 0.333680 0.477
R-HSA-5620916 VxPx cargo-targeting to cilium 0.323982 0.489
R-HSA-9013973 TICAM1-dependent activation of IRF3/IRF7 0.209309 0.679
R-HSA-936964 Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) 0.280248 0.552
R-HSA-9933939 Formation of the polybromo-BAF (pBAF) complex 0.245609 0.610
R-HSA-927802 Nonsense-Mediated Decay (NMD) 0.307162 0.513
R-HSA-72086 mRNA Capping 0.104850 0.979
R-HSA-198203 PI3K/AKT activation 0.184148 0.735
R-HSA-9933937 Formation of the canonical BAF (cBAF) complex 0.245609 0.610
R-HSA-9933946 Formation of the embryonic stem cell BAF (esBAF) complex 0.257336 0.589
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter 0.355036 0.450
R-HSA-156902 Peptide chain elongation 0.195310 0.709
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) 0.307162 0.513
R-HSA-9931521 The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CL... 0.280248 0.552
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript 0.135071 0.869
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs 0.175788 0.755
R-HSA-432722 Golgi Associated Vesicle Biogenesis 0.247515 0.606
R-HSA-5693607 Processing of DNA double-strand break ends 0.164354 0.784
R-HSA-8856828 Clathrin-mediated endocytosis 0.110439 0.957
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) 0.315662 0.501
R-HSA-8937144 Aryl hydrocarbon receptor signalling 0.117702 0.929
R-HSA-9937080 Developmental Lineage of Multipotent Pancreatic Progenitor Cells 0.119993 0.921
R-HSA-72764 Eukaryotic Translation Termination 0.231651 0.635
R-HSA-6807878 COPI-mediated anterograde transport 0.235767 0.628
R-HSA-1268020 Mitochondrial protein import 0.299379 0.524
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic 0.235767 0.628
R-HSA-5693538 Homology Directed Repair 0.341173 0.467
R-HSA-8866376 Reelin signalling pathway 0.103779 0.984
R-HSA-5576890 Phase 3 - rapid repolarisation 0.144904 0.839
R-HSA-192905 vRNP Assembly 0.196827 0.706
R-HSA-9634285 Constitutive Signaling by Overexpressed ERBB2 0.221598 0.654
R-HSA-380615 Serotonin clearance from the synaptic cleft 0.221598 0.654
R-HSA-9603798 Class I peroxisomal membrane protein import 0.268881 0.570
R-HSA-350054 Notch-HLH transcription pathway 0.355036 0.450
R-HSA-9925563 Developmental Lineage of Pancreatic Ductal Cells 0.339354 0.469
R-HSA-156842 Eukaryotic Translation Elongation 0.215333 0.667
R-HSA-74749 Signal attenuation 0.184148 0.735
R-HSA-3371511 HSF1 activation 0.146297 0.835
R-HSA-5693532 DNA Double-Strand Break Repair 0.280245 0.552
R-HSA-139915 Activation of PUMA and translocation to mitochondria 0.144904 0.839
R-HSA-111453 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members 0.158190 0.801
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not kno... 0.125155 0.903
R-HSA-9820448 Developmental Cell Lineages of the Exocrine Pancreas 0.276793 0.558
R-HSA-9633012 Response of EIF2AK4 (GCN2) to amino acid deficiency 0.107962 0.967
R-HSA-114452 Activation of BH3-only proteins 0.109837 0.959
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet fun... 0.333680 0.477
R-HSA-6799198 Complex I biogenesis 0.305121 0.516
R-HSA-9663891 Selective autophagy 0.195310 0.709
R-HSA-9706019 RHOBTB3 ATPase cycle 0.196827 0.706
R-HSA-1483226 Synthesis of PI 0.196827 0.706
R-HSA-418359 Reduction of cytosolic Ca++ levels 0.209309 0.679
R-HSA-9735869 SARS-CoV-1 modulates host translation machinery 0.135633 0.868
R-HSA-168325 Viral Messenger RNA Synthesis 0.095157 1.022
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane 0.361893 0.441
R-HSA-9612973 Autophagy 0.290643 0.537
R-HSA-9931509 Expression of BMAL (ARNTL), CLOCK, and NPAS2 0.162598 0.789
R-HSA-5693606 DNA Double Strand Break Response 0.114447 0.941
R-HSA-6803211 TP53 Regulates Transcription of Death Receptors and Ligands 0.245609 0.610
R-HSA-193648 NRAGE signals death through JNK 0.264813 0.577
R-HSA-2408557 Selenocysteine synthesis 0.256522 0.591
R-HSA-1912422 Pre-NOTCH Expression and Processing 0.311411 0.507
R-HSA-1295596 Spry regulation of FGF signaling 0.257336 0.589
R-HSA-9665348 Signaling by ERBB2 ECD mutants 0.302456 0.519
R-HSA-9955298 SLC-mediated transport of organic anions 0.153156 0.815
R-HSA-199992 trans-Golgi Network Vesicle Budding 0.356283 0.448
R-HSA-199977 ER to Golgi Anterograde Transport 0.259645 0.586
R-HSA-389542 NADPH regeneration 0.131409 0.881
R-HSA-8948747 Regulation of PTEN localization 0.144904 0.839
R-HSA-8849469 PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 0.158190 0.801
R-HSA-425381 Bicarbonate transporters 0.196827 0.706
R-HSA-1236977 Endosomal/Vacuolar pathway 0.209309 0.679
R-HSA-425561 Sodium/Calcium exchangers 0.209309 0.679
R-HSA-1810476 RIP-mediated NFkB activation via ZBP1 0.257336 0.589
R-HSA-69473 G2/M DNA damage checkpoint 0.138627 0.858
R-HSA-3371571 HSF1-dependent transactivation 0.236004 0.627
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins 0.241756 0.617
R-HSA-5653656 Vesicle-mediated transport 0.102265 0.990
R-HSA-9682385 FLT3 signaling in disease 0.146297 0.835
R-HSA-9617629 Regulation of FOXO transcriptional activity by acetylation 0.221598 0.654
R-HSA-6787450 tRNA modification in the mitochondrion 0.280248 0.552
R-HSA-844456 The NLRP3 inflammasome 0.313303 0.504
R-HSA-983189 Kinesins 0.287874 0.541
R-HSA-9711097 Cellular response to starvation 0.297604 0.526
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes 0.142213 0.847
R-HSA-426486 Small interfering RNA (siRNA) biogenesis 0.131409 0.881
R-HSA-8851805 MET activates RAS signaling 0.221598 0.654
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors 0.233697 0.631
R-HSA-975163 IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation 0.245609 0.610
R-HSA-3371568 Attenuation phase 0.168103 0.774
R-HSA-5578749 Transcriptional regulation by small RNAs 0.131548 0.881
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers 0.221418 0.655
R-HSA-1474165 Reproduction 0.196906 0.706
R-HSA-162906 HIV Infection 0.095518 1.020
R-HSA-449836 Other interleukin signaling 0.313303 0.504
R-HSA-9840373 Cellular response to mitochondrial stress 0.171270 0.766
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements 0.356283 0.448
R-HSA-2892245 POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation 0.144904 0.839
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse 0.323982 0.489
R-HSA-109606 Intrinsic Pathway for Apoptosis 0.264813 0.577
R-HSA-376176 Signaling by ROBO receptors 0.137597 0.861
R-HSA-70171 Glycolysis 0.098139 1.008
R-HSA-9725370 Signaling by ALK fusions and activated point mutants 0.285964 0.544
R-HSA-1483249 Inositol phosphate metabolism 0.307162 0.513
R-HSA-193144 Estrogen biosynthesis 0.221598 0.654
R-HSA-6811555 PI5P Regulates TP53 Acetylation 0.233697 0.631
R-HSA-1433559 Regulation of KIT signaling 0.245609 0.610
R-HSA-428643 Organic anion transport by SLC5/17/25 transporters 0.302456 0.519
R-HSA-166208 mTORC1-mediated signalling 0.355036 0.450
R-HSA-9707616 Heme signaling 0.299379 0.524
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases 0.268881 0.570
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE 0.361893 0.441
R-HSA-73857 RNA Polymerase II Transcription 0.223712 0.650
R-HSA-9700206 Signaling by ALK in cancer 0.285964 0.544
R-HSA-198323 AKT phosphorylates targets in the cytosol 0.221598 0.654
R-HSA-140534 Caspase activation via Death Receptors in the presence of ligand 0.268881 0.570
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription 0.334495 0.476
R-HSA-9616222 Transcriptional regulation of granulopoiesis 0.299379 0.524
R-HSA-2586552 Signaling by Leptin 0.184148 0.735
R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specif... 0.355036 0.450
R-HSA-72306 tRNA processing 0.176658 0.753
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins 0.171270 0.766
R-HSA-446353 Cell-extracellular matrix interactions 0.257336 0.589
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint 0.299379 0.524
R-HSA-9841251 Mitochondrial unfolded protein response (UPRmt) 0.095072 1.022
R-HSA-9764725 Negative Regulation of CDH1 Gene Transcription 0.092084 1.036
R-HSA-162582 Signal Transduction 0.106835 0.971
R-HSA-9607240 FLT3 Signaling 0.173639 0.760
R-HSA-1606322 ZBP1(DAI) mediated induction of type I IFNs 0.302456 0.519
R-HSA-68875 Mitotic Prophase 0.160076 0.796
R-HSA-8978934 Metabolism of cofactors 0.350656 0.455
R-HSA-9839373 Signaling by TGFBR3 0.207393 0.683
R-HSA-9671555 Signaling by PDGFR in disease 0.344846 0.462
R-HSA-422475 Axon guidance 0.179759 0.745
R-HSA-1912408 Pre-NOTCH Transcription and Translation 0.207270 0.683
R-HSA-373753 Nephrin family interactions 0.323982 0.489
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta 0.227550 0.643
R-HSA-70326 Glucose metabolism 0.151300 0.820
R-HSA-9675108 Nervous system development 0.238083 0.623
R-HSA-373755 Semaphorin interactions 0.101429 0.994
R-HSA-9764560 Regulation of CDH1 Gene Transcription 0.124603 0.904
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-l... 0.139899 0.854
R-HSA-9856651 MITF-M-dependent gene expression 0.125685 0.901
R-HSA-9730414 MITF-M-regulated melanocyte development 0.301932 0.520
R-HSA-9705671 SARS-CoV-2 activates/modulates innate and adaptive immune responses 0.108338 0.965
R-HSA-8953750 Transcriptional Regulation by E2F6 0.162598 0.789
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptor... 0.280248 0.552
R-HSA-9764265 Regulation of CDH1 Expression and Function 0.353815 0.451
R-HSA-9764274 Regulation of Expression and Function of Type I Classical Cadherins 0.353815 0.451
R-HSA-5688426 Deubiquitination 0.262921 0.580
R-HSA-1059683 Interleukin-6 signaling 0.233697 0.631
R-HSA-9682706 Replication of the SARS-CoV-1 genome 0.233697 0.631
R-HSA-5619102 SLC transporter disorders 0.166393 0.779
R-HSA-9694686 Replication of the SARS-CoV-2 genome 0.291439 0.535
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes 0.134811 0.870
R-HSA-9679514 SARS-CoV-1 Genome Replication and Transcription 0.245609 0.610
R-HSA-9694682 SARS-CoV-2 Genome Replication and Transcription 0.313303 0.504
R-HSA-9679506 SARS-CoV Infections 0.293504 0.532
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulati... 0.316578 0.500
R-HSA-9820965 Respiratory syncytial virus (RSV) genome replication, transcription and translat... 0.162598 0.789
R-HSA-5339562 Uptake and actions of bacterial toxins 0.241756 0.617
R-HSA-2262752 Cellular responses to stress 0.362662 0.440
R-HSA-9830674 Formation of the ureteric bud 0.365068 0.438
R-HSA-9648895 Response of EIF2AK1 (HRI) to heme deficiency 0.365068 0.438
R-HSA-200425 Carnitine shuttle 0.365068 0.438
R-HSA-9937008 Mitochondrial mRNA modification 0.365068 0.438
R-HSA-879518 Organic anion transport by SLCO transporters 0.365068 0.438
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer 0.365068 0.438
R-HSA-982772 Growth hormone receptor signaling 0.365068 0.438
R-HSA-3247509 Chromatin modifying enzymes 0.366218 0.436
R-HSA-162909 Host Interactions of HIV factors 0.366618 0.436
R-HSA-71403 Citric acid cycle (TCA cycle) 0.373056 0.428
R-HSA-8852135 Protein ubiquitination 0.373056 0.428
R-HSA-429947 Deadenylation of mRNA 0.374945 0.426
R-HSA-9665686 Signaling by ERBB2 TMD/JMD mutants 0.374945 0.426
R-HSA-9836573 Mitochondrial RNA degradation 0.374945 0.426
R-HSA-9865881 Complex III assembly 0.374945 0.426
R-HSA-6783589 Interleukin-6 family signaling 0.374945 0.426
R-HSA-9020591 Interleukin-12 signaling 0.378609 0.422
R-HSA-69481 G2/M Checkpoints 0.383494 0.416
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SD... 0.384669 0.415
R-HSA-9932444 ATP-dependent chromatin remodelers 0.384669 0.415
R-HSA-9932451 SWI/SNF chromatin remodelers 0.384669 0.415
R-HSA-3214842 HDMs demethylate histones 0.384669 0.415
R-HSA-400685 Sema4D in semaphorin signaling 0.384669 0.415
R-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis 0.384669 0.415
R-HSA-1266695 Interleukin-7 signaling 0.384669 0.415
R-HSA-73894 DNA Repair 0.385029 0.415
R-HSA-9931510 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock gene... 0.394242 0.404
R-HSA-9703465 Signaling by FLT3 fusion proteins 0.394242 0.404
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathway 0.394242 0.404
R-HSA-8934593 Regulation of RUNX1 Expression and Activity 0.394242 0.404
R-HSA-5250941 Negative epigenetic regulation of rRNA expression 0.400607 0.397
R-HSA-2995410 Nuclear Envelope (NE) Reassembly 0.400607 0.397
R-HSA-73863 RNA Polymerase I Transcription Termination 0.403667 0.394
R-HSA-445095 Interaction between L1 and Ankyrins 0.403667 0.394
R-HSA-8949613 Cristae formation 0.403667 0.394
R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma ... 0.403667 0.394
R-HSA-3928663 EPHA-mediated growth cone collapse 0.403667 0.394
R-HSA-5619115 Disorders of transmembrane transporters 0.406249 0.391
R-HSA-9909396 Circadian clock 0.408609 0.389
R-HSA-8856688 Golgi-to-ER retrograde transport 0.408609 0.389
R-HSA-4839726 Chromatin organization 0.412389 0.385
R-HSA-5205685 PINK1-PRKN Mediated Mitophagy 0.412945 0.384
R-HSA-5654732 Negative regulation of FGFR3 signaling 0.412945 0.384
R-HSA-77387 Insulin receptor recycling 0.412945 0.384
R-HSA-113418 Formation of the Early Elongation Complex 0.412945 0.384
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex 0.412945 0.384
R-HSA-622312 Inflammasomes 0.412945 0.384
R-HSA-212436 Generic Transcription Pathway 0.414919 0.382
R-HSA-9006335 Signaling by Erythropoietin 0.422080 0.375
R-HSA-9615710 Late endosomal microautophagy 0.422080 0.375
R-HSA-9709570 Impaired BRCA2 binding to RAD51 0.422080 0.375
R-HSA-9927432 Developmental Lineage of Mammary Gland Myoepithelial Cells 0.422080 0.375
R-HSA-5654733 Negative regulation of FGFR4 signaling 0.422080 0.375
R-HSA-9664565 Signaling by ERBB2 KD Mutants 0.422080 0.375
R-HSA-418360 Platelet calcium homeostasis 0.422080 0.375
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) 0.422234 0.374
R-HSA-1500931 Cell-Cell communication 0.429709 0.367
R-HSA-76046 RNA Polymerase III Transcription Initiation 0.431073 0.365
R-HSA-1227990 Signaling by ERBB2 in Cancer 0.431073 0.365
R-HSA-8863795 Downregulation of ERBB2 signaling 0.431073 0.365
R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation 0.431073 0.365
R-HSA-112311 Neurotransmitter clearance 0.431073 0.365
R-HSA-9933387 RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression 0.431073 0.365
R-HSA-9609690 HCMV Early Events 0.434423 0.362
R-HSA-9759476 Regulation of Homotypic Cell-Cell Adhesion 0.434423 0.362
R-HSA-9948299 Ribosome-associated quality control 0.437509 0.359
R-HSA-6807505 RNA polymerase II transcribes snRNA genes 0.438190 0.358
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling 0.439927 0.357
R-HSA-447115 Interleukin-12 family signaling 0.443456 0.353
R-HSA-913531 Interferon Signaling 0.445969 0.351
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes 0.448694 0.348
R-HSA-212165 Epigenetic regulation of gene expression 0.448961 0.348
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation 0.449735 0.347
R-HSA-1632852 Macroautophagy 0.449735 0.347
R-HSA-9734767 Developmental Cell Lineages 0.455045 0.342
R-HSA-948021 Transport to the Golgi and subsequent modification 0.455070 0.342
R-HSA-5685938 HDR through Single Strand Annealing (SSA) 0.457225 0.340
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates 0.457225 0.340
R-HSA-5654726 Negative regulation of FGFR1 signaling 0.457225 0.340
R-HSA-9930044 Nuclear RNA decay 0.457225 0.340
R-HSA-5675482 Regulation of necroptotic cell death 0.457225 0.340
R-HSA-9022692 Regulation of MECP2 expression and activity 0.457225 0.340
R-HSA-69273 Cyclin A/B1/B2 associated events during G2/M transition 0.457225 0.340
R-HSA-5693537 Resolution of D-Loop Structures 0.465674 0.332
R-HSA-5696394 DNA Damage Recognition in GG-NER 0.465674 0.332
R-HSA-9818027 NFE2L2 regulating anti-oxidant/detoxification enzymes 0.465674 0.332
R-HSA-5696400 Dual Incision in GG-NER 0.473991 0.324
R-HSA-1980145 Signaling by NOTCH2 0.473991 0.324
R-HSA-9843970 Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex 0.473991 0.324
R-HSA-9675136 Diseases of DNA Double-Strand Break Repair 0.473991 0.324
R-HSA-5205647 Mitophagy 0.473991 0.324
R-HSA-9680350 Signaling by CSF1 (M-CSF) in myeloid cells 0.473991 0.324
R-HSA-9701190 Defective homologous recombination repair (HRR) due to BRCA2 loss of function 0.473991 0.324
R-HSA-203615 eNOS activation 0.473991 0.324
R-HSA-5654727 Negative regulation of FGFR2 signaling 0.473991 0.324
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian expression 0.473991 0.324
R-HSA-74752 Signaling by Insulin receptor 0.474461 0.324
R-HSA-425407 SLC-mediated transmembrane transport 0.481100 0.318
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange 0.482180 0.317
R-HSA-9772755 Formation of WDR5-containing histone-modifying complexes 0.482180 0.317
R-HSA-917977 Transferrin endocytosis and recycling 0.482180 0.317
R-HSA-381042 PERK regulates gene expression 0.482180 0.317
R-HSA-9837999 Mitochondrial protein degradation 0.484564 0.315
R-HSA-9679191 Potential therapeutics for SARS 0.489667 0.310
R-HSA-74158 RNA Polymerase III Transcription 0.490241 0.310
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation 0.490241 0.310
R-HSA-163560 Triglyceride catabolism 0.490241 0.310
R-HSA-8853659 RET signaling 0.490241 0.310
R-HSA-9010553 Regulation of expression of SLITs and ROBOs 0.497486 0.303
R-HSA-1296072 Voltage gated Potassium channels 0.498178 0.303
R-HSA-427359 SIRT1 negatively regulates rRNA expression 0.498178 0.303
R-HSA-446728 Cell junction organization 0.499771 0.301
R-HSA-9609507 Protein localization 0.501373 0.300
R-HSA-6785470 tRNA processing in the mitochondrion 0.505991 0.296
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange 0.505991 0.296
R-HSA-202131 Metabolism of nitric oxide: NOS3 activation and regulation 0.505991 0.296
R-HSA-5213460 RIPK1-mediated regulated necrosis 0.505991 0.296
R-HSA-9958790 SLC-mediated transport of inorganic anions 0.505991 0.296
R-HSA-452723 Transcriptional regulation of pluripotent stem cells 0.505991 0.296
R-HSA-418990 Adherens junctions interactions 0.512074 0.291
R-HSA-1266738 Developmental Biology 0.513149 0.290
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat 0.513684 0.289
R-HSA-3214847 HATs acetylate histones 0.514138 0.289
R-HSA-193704 p75 NTR receptor-mediated signalling 0.514138 0.289
R-HSA-9610379 HCMV Late Events 0.516767 0.287
R-HSA-5696395 Formation of Incision Complex in GG-NER 0.521257 0.283
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat 0.521257 0.283
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript 0.521257 0.283
R-HSA-167169 HIV Transcription Elongation 0.521257 0.283
R-HSA-5602358 Diseases associated with the TLR signaling cascade 0.521257 0.283
R-HSA-5260271 Diseases of Immune System 0.521257 0.283
R-HSA-8868766 rRNA processing in the mitochondrion 0.521257 0.283
R-HSA-9646399 Aggrephagy 0.521257 0.283
R-HSA-9006936 Signaling by TGFB family members 0.528144 0.277
R-HSA-9842860 Regulation of endogenous retroelements 0.528501 0.277
R-HSA-5218920 VEGFR2 mediated vascular permeability 0.528712 0.277
R-HSA-9820841 M-decay: degradation of maternal mRNAs by maternally stored factors 0.528712 0.277
R-HSA-3214841 PKMTs methylate histone lysines 0.528712 0.277
R-HSA-6811438 Intra-Golgi traffic 0.536052 0.271
R-HSA-5675221 Negative regulation of MAPK pathway 0.536052 0.271
R-HSA-442660 SLC-mediated transport of neurotransmitters 0.536052 0.271
R-HSA-2408522 Selenoamino acid metabolism 0.543081 0.265
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signaling 0.543278 0.265
R-HSA-73762 RNA Polymerase I Transcription Initiation 0.543278 0.265
R-HSA-379716 Cytosolic tRNA aminoacylation 0.543278 0.265
R-HSA-165159 MTOR signalling 0.543278 0.265
R-HSA-5696398 Nucleotide Excision Repair 0.547201 0.262
R-HSA-5654743 Signaling by FGFR4 0.550392 0.259
R-HSA-2173789 TGF-beta receptor signaling activates SMADs 0.550392 0.259
R-HSA-1433557 Signaling by SCF-KIT 0.550392 0.259
R-HSA-9692914 SARS-CoV-1-host interactions 0.551795 0.258
R-HSA-597592 Post-translational protein modification 0.554165 0.256
R-HSA-72312 rRNA processing 0.556912 0.254
R-HSA-3214858 RMTs methylate histone arginines 0.557395 0.254
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors 0.557395 0.254
R-HSA-8953897 Cellular responses to stimuli 0.558657 0.253
R-HSA-72766 Translation 0.558744 0.253
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere 0.564290 0.248
R-HSA-774815 Nucleosome assembly 0.564290 0.248
R-HSA-6783310 Fanconi Anemia Pathway 0.564290 0.248
R-HSA-9824585 Regulation of MITF-M-dependent genes involved in pigmentation 0.564290 0.248
R-HSA-5654741 Signaling by FGFR3 0.564290 0.248
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol 0.568553 0.245
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex 0.571078 0.243
R-HSA-9675135 Diseases of DNA repair 0.571078 0.243
R-HSA-9660826 Purinergic signaling in leishmaniasis infection 0.571078 0.243
R-HSA-9664424 Cell recruitment (pro-inflammatory response) 0.571078 0.243
R-HSA-5689880 Ub-specific processing proteases 0.579201 0.237
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis 0.582713 0.235
R-HSA-9031628 NGF-stimulated transcription 0.584339 0.233
R-HSA-425410 Metal ion SLC transporters 0.584339 0.233
R-HSA-983231 Factors involved in megakaryocyte development and platelet production 0.586207 0.232
R-HSA-9678108 SARS-CoV-1 Infection 0.586207 0.232
R-HSA-157858 Gap junction trafficking and regulation 0.590816 0.229
R-HSA-9766229 Degradation of CDH1 0.590816 0.229
R-HSA-611105 Respiratory electron transport 0.596577 0.224
R-HSA-109704 PI3K Cascade 0.597192 0.224
R-HSA-912446 Meiotic recombination 0.603469 0.219
R-HSA-1592230 Mitochondrial biogenesis 0.608504 0.216
R-HSA-73772 RNA Polymerase I Promoter Escape 0.609649 0.215
R-HSA-9609646 HCMV Infection 0.611170 0.214
R-HSA-2219528 PI3K/AKT Signaling in Cancer 0.612634 0.213
R-HSA-421270 Cell-cell junction organization 0.614063 0.212
R-HSA-5250924 B-WICH complex positively regulates rRNA expression 0.615733 0.211
R-HSA-445355 Smooth Muscle Contraction 0.615733 0.211
R-HSA-69275 G2/M Transition 0.623394 0.205
R-HSA-9824446 Viral Infection Pathways 0.628384 0.202
R-HSA-8868773 rRNA processing in the nucleus and cytosol 0.629906 0.201
R-HSA-453274 Mitotic G2-G2/M phases 0.629906 0.201
R-HSA-2132295 MHC class II antigen presentation 0.632785 0.199
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER 0.633424 0.198
R-HSA-9662361 Sensory processing of sound by outer hair cells of the cochlea 0.633424 0.198
R-HSA-5654736 Signaling by FGFR1 0.633424 0.198
R-HSA-5578775 Ion homeostasis 0.633424 0.198
R-HSA-6809371 Formation of the cornified envelope 0.636716 0.196
R-HSA-112399 IRS-mediated signalling 0.639138 0.194
R-HSA-9764561 Regulation of CDH1 Function 0.639138 0.194
R-HSA-6782135 Dual incision in TC-NER 0.644764 0.191
R-HSA-9772572 Early SARS-CoV-2 Infection Events 0.644764 0.191
R-HSA-9033241 Peroxisomal protein import 0.650303 0.187
R-HSA-429914 Deadenylation-dependent mRNA decay 0.650303 0.187
R-HSA-8979227 Triglyceride metabolism 0.650303 0.187
R-HSA-9845323 Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) 0.655755 0.183
R-HSA-8873719 RAB geranylgeranylation 0.655755 0.183
R-HSA-1227986 Signaling by ERBB2 0.655755 0.183
R-HSA-8943724 Regulation of PTEN gene transcription 0.655755 0.183
R-HSA-1660661 Sphingolipid de novo biosynthesis 0.655755 0.183
R-HSA-379724 tRNA Aminoacylation 0.655755 0.183
R-HSA-187037 Signaling by NTRK1 (TRKA) 0.655878 0.183
R-HSA-2428928 IRS-related events triggered by IGF1R 0.661123 0.180
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases 0.662713 0.179
R-HSA-375165 NCAM signaling for neurite out-growth 0.666408 0.176
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence 0.666408 0.176
R-HSA-1428517 Aerobic respiration and respiratory electron transport 0.668075 0.175
R-HSA-5576891 Cardiac conduction 0.670622 0.174
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centr... 0.671610 0.173
R-HSA-380259 Loss of Nlp from mitotic centrosomes 0.671610 0.173
R-HSA-2426168 Activation of gene expression by SREBF (SREBP) 0.671610 0.173
R-HSA-8848021 Signaling by PTK6 0.671610 0.173
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases 0.671610 0.173
R-HSA-74751 Insulin receptor signalling cascade 0.676732 0.170
R-HSA-2428924 IGF1R signaling cascade 0.676732 0.170
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signali... 0.676732 0.170
R-HSA-6802952 Signaling by BRAF and RAF1 fusions 0.681774 0.166
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) 0.681774 0.166
R-HSA-8854518 AURKA Activation by TPX2 0.686738 0.163
R-HSA-9909649 Regulation of PD-L1(CD274) transcription 0.686738 0.163
R-HSA-5685942 HDR through Homologous Recombination (HRR) 0.691624 0.160
R-HSA-9830369 Kidney development 0.691624 0.160
R-HSA-196071 Metabolism of steroid hormones 0.691624 0.160
R-HSA-9820952 Respiratory Syncytial Virus Infection Pathway 0.695192 0.158
R-HSA-9662360 Sensory processing of sound by inner hair cells of the cochlea 0.696435 0.157
R-HSA-5218859 Regulated Necrosis 0.696435 0.157
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation 0.696948 0.157
R-HSA-6807070 PTEN Regulation 0.701930 0.154
R-HSA-397014 Muscle contraction 0.704705 0.152
R-HSA-204005 COPII-mediated vesicle transport 0.705833 0.151
R-HSA-75105 Fatty acyl-CoA biosynthesis 0.705833 0.151
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA 0.705833 0.151
R-HSA-5250913 Positive epigenetic regulation of rRNA expression 0.710423 0.148
R-HSA-5620920 Cargo trafficking to the periciliary membrane 0.710423 0.148
R-HSA-427413 NoRC negatively regulates rRNA expression 0.710423 0.148
R-HSA-3906995 Diseases associated with O-glycosylation of proteins 0.710423 0.148
R-HSA-5632684 Hedgehog 'on' state 0.710423 0.148
R-HSA-9856649 Transcriptional and post-translational regulation of MITF-M expression and activ... 0.710423 0.148
R-HSA-9924644 Developmental Lineages of the Mammary Gland 0.714941 0.146
R-HSA-198725 Nuclear Events (kinase and transcription factor activation) 0.714941 0.146
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes 0.719390 0.143
R-HSA-9749641 Aspirin ADME 0.719390 0.143
R-HSA-425397 Transport of vitamins, nucleosides, and related molecules 0.723769 0.140
R-HSA-9013694 Signaling by NOTCH4 0.723769 0.140
R-HSA-1222556 ROS and RNS production in phagocytes 0.723769 0.140
R-HSA-1257604 PIP3 activates AKT signaling 0.727690 0.138
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) 0.728080 0.138
R-HSA-380287 Centrosome maturation 0.728080 0.138
R-HSA-917937 Iron uptake and transport 0.728080 0.138
R-HSA-392499 Metabolism of proteins 0.728410 0.138
R-HSA-73854 RNA Polymerase I Promoter Clearance 0.732324 0.135
R-HSA-5689603 UCH proteinases 0.732324 0.135
R-HSA-69242 S Phase 0.733785 0.134
R-HSA-166520 Signaling by NTRKs 0.733785 0.134
R-HSA-1280215 Cytokine Signaling in Immune system 0.738549 0.132
R-HSA-73864 RNA Polymerase I Transcription 0.740615 0.130
R-HSA-416482 G alpha (12/13) signalling events 0.740615 0.130
R-HSA-216083 Integrin cell surface interactions 0.740615 0.130
R-HSA-9755511 KEAP1-NFE2L2 pathway 0.742762 0.129
R-HSA-9659379 Sensory processing of sound 0.744664 0.128
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF) 0.744664 0.128
R-HSA-5654738 Signaling by FGFR2 0.748651 0.126
R-HSA-9833482 PKR-mediated signaling 0.748651 0.126
R-HSA-9917777 Epigenetic regulation by WDR5-containing histone modifying complexes 0.751480 0.124
R-HSA-73887 Death Receptor Signaling 0.751480 0.124
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis 0.752575 0.123
R-HSA-9707564 Cytoprotection by HMOX1 0.760241 0.119
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition 0.763985 0.117
R-HSA-877300 Interferon gamma signaling 0.765446 0.116
R-HSA-6802957 Oncogenic MAPK signaling 0.767671 0.115
R-HSA-9824439 Bacterial Infection Pathways 0.772210 0.112
R-HSA-157118 Signaling by NOTCH 0.774186 0.111
R-HSA-70268 Pyruvate metabolism 0.778387 0.109
R-HSA-1852241 Organelle biogenesis and maintenance 0.780183 0.108
R-HSA-5620912 Anchoring of the basal body to the plasma membrane 0.788612 0.103
R-HSA-8986944 Transcriptional Regulation by MECP2 0.791914 0.101
R-HSA-2682334 EPH-Ephrin signaling 0.798366 0.098
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messenge... 0.801517 0.096
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer 0.804618 0.094
R-HSA-9954709 Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide 0.810678 0.091
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation 0.813637 0.090
R-HSA-1296071 Potassium Channels 0.813637 0.090
R-HSA-170834 Signaling by TGF-beta Receptor Complex 0.816550 0.088
R-HSA-2559583 Cellular Senescence 0.819086 0.087
R-HSA-190236 Signaling by FGFR 0.819418 0.086
R-HSA-9006925 Intracellular signaling by second messengers 0.819482 0.086
R-HSA-9614085 FOXO-mediated transcription 0.822241 0.085
R-HSA-382556 ABC-family proteins mediated transport 0.825020 0.084
R-HSA-9009391 Extra-nuclear estrogen signaling 0.827756 0.082
R-HSA-9711123 Cellular response to chemical stress 0.829733 0.081
R-HSA-2559580 Oxidative Stress Induced Senescence 0.830449 0.081
R-HSA-983712 Ion channel transport 0.837680 0.077
R-HSA-5617833 Cilium Assembly 0.839636 0.076
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade 0.840808 0.075
R-HSA-418346 Platelet homeostasis 0.843298 0.074
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling 0.843484 0.074
R-HSA-9734779 Developmental Cell Lineages of the Integumentary System 0.848162 0.072
R-HSA-1236975 Antigen processing-Cross presentation 0.848162 0.072
R-HSA-2672351 Stimuli-sensing channels 0.848162 0.072
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation 0.848162 0.072
R-HSA-975155 MyD88 dependent cascade initiated on endosome 0.850538 0.070
R-HSA-166166 MyD88-independent TLR4 cascade 0.852876 0.069
R-HSA-937061 TRIF (TICAM1)-mediated TLR4 signaling 0.852876 0.069
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade 0.859674 0.066
R-HSA-5673001 RAF/MAP kinase cascade 0.863342 0.064
R-HSA-382551 Transport of small molecules 0.864499 0.063
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade 0.866160 0.062
R-HSA-4420097 VEGFA-VEGFR2 Pathway 0.868255 0.061
R-HSA-6805567 Keratinization 0.869782 0.061
R-HSA-373760 L1CAM interactions 0.870317 0.060
R-HSA-6798695 Neutrophil degranulation 0.870331 0.060
R-HSA-5684996 MAPK1/MAPK3 signaling 0.873180 0.059
R-HSA-983169 Class I MHC mediated antigen processing & presentation 0.878495 0.056
R-HSA-73886 Chromosome Maintenance 0.880155 0.055
R-HSA-9759194 Nuclear events mediated by NFE2L2 0.880155 0.055
R-HSA-449147 Signaling by Interleukins 0.881637 0.055
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 0.883879 0.054
R-HSA-9816359 Maternal to zygotic transition (MZT) 0.883879 0.054
R-HSA-194138 Signaling by VEGF 0.889250 0.051
R-HSA-9841922 MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesi... 0.889250 0.051
R-HSA-9851695 Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes 0.889250 0.051
R-HSA-9818564 Epigenetic regulation of gene expression by MLL3 and MLL4 complexes 0.889250 0.051
R-HSA-8951664 Neddylation 0.891974 0.050
R-HSA-199418 Negative regulation of the PI3K/AKT network 0.897656 0.047
R-HSA-9843745 Adipogenesis 0.900838 0.045
R-HSA-9717189 Sensory perception of taste 0.900838 0.045
R-HSA-1474228 Degradation of the extracellular matrix 0.902392 0.045
R-HSA-5358351 Signaling by Hedgehog 0.912611 0.040
R-HSA-381119 Unfolded Protein Response (UPR) 0.913981 0.039
R-HSA-9664407 Parasite infection 0.915330 0.038
R-HSA-9664417 Leishmania phagocytosis 0.915330 0.038
R-HSA-9664422 FCGR3A-mediated phagocytosis 0.915330 0.038
R-HSA-446203 Asparagine N-linked glycosylation 0.917594 0.037
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade 0.926558 0.033
R-HSA-5683057 MAPK family signaling cascades 0.927804 0.033
R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors 0.928844 0.032
R-HSA-1989781 PPARA activates gene expression 0.934255 0.030
R-HSA-400206 Regulation of lipid metabolism by PPARalpha 0.936302 0.029
R-HSA-5663205 Infectious disease 0.936897 0.028
R-HSA-983705 Signaling by the B Cell Receptor (BCR) 0.937302 0.028
R-HSA-71387 Metabolism of carbohydrates and carbohydrate derivatives 0.941480 0.026
R-HSA-9658195 Leishmania infection 0.950069 0.022
R-HSA-9824443 Parasitic Infection Pathways 0.950069 0.022
R-HSA-9909648 Regulation of PD-L1(CD274) expression 0.950554 0.022
R-HSA-3781865 Diseases of glycosylation 0.959115 0.018
R-HSA-168898 Toll-like Receptor Cascades 0.963409 0.016
R-HSA-389948 Co-inhibition by PD-1 0.968277 0.014
R-HSA-428157 Sphingolipid metabolism 0.968776 0.014
R-HSA-1483206 Glycerophospholipid biosynthesis 0.969751 0.013
R-HSA-8957322 Metabolism of steroids 0.971837 0.012
R-HSA-9748784 Drug ADME 0.976537 0.010
R-HSA-1643685 Disease 0.980740 0.008
R-HSA-202733 Cell surface interactions at the vascular wall 0.982652 0.008
R-HSA-196854 Metabolism of vitamins and cofactors 0.983660 0.007
R-HSA-388841 Regulation of T cell activation by CD28 family 0.987179 0.006
R-HSA-211945 Phase I - Functionalization of compounds 0.990970 0.004
R-HSA-1483257 Phospholipid metabolism 0.993115 0.003
R-HSA-168256 Immune System 0.993125 0.003
R-HSA-1280218 Adaptive Immune System 0.994683 0.002
R-HSA-112315 Transmission across Chemical Synapses 0.995598 0.002
R-HSA-109582 Hemostasis 0.995745 0.002
R-HSA-1474244 Extracellular matrix organization 0.996127 0.002
R-HSA-112316 Neuronal System 0.996250 0.002
R-HSA-71291 Metabolism of amino acids and derivatives 0.997577 0.001
R-HSA-8978868 Fatty acid metabolism 0.998873 0.000
R-HSA-5668914 Diseases of metabolism 0.999183 0.000
R-HSA-168249 Innate Immune System 0.999303 0.000
R-HSA-211859 Biological oxidations 0.999827 0.000
R-HSA-388396 GPCR downstream signalling 0.999997 0.000
R-HSA-556833 Metabolism of lipids 0.999998 0.000
R-HSA-372790 Signaling by GPCR 0.999999 0.000
R-HSA-9709957 Sensory Perception 1.000000 0.000
R-HSA-1430728 Metabolism 1.000000 0.000
Download
kinase JSD_mean pearson_surrounding kinase_max_IC_position max_position_JSD
COTCOT 0.833 0.190 2 0.854
GRK1GRK1 0.828 0.304 -2 0.860
MOSMOS 0.825 0.321 1 0.871
CLK3CLK3 0.818 0.070 1 0.852
CDC7CDC7 0.817 0.018 1 0.862
DSTYKDSTYK 0.812 0.033 2 0.884
KISKIS 0.811 0.109 1 0.715
IKKBIKKB 0.810 0.001 -2 0.758
BMPR1BBMPR1B 0.810 0.155 1 0.848
PRPKPRPK 0.809 -0.040 -1 0.247
PIM3PIM3 0.809 -0.000 -3 0.850
GCN2GCN2 0.806 -0.062 2 0.814
MTORMTOR 0.806 -0.089 1 0.768
CAMK2GCAMK2G 0.805 0.035 2 0.815
NDR2NDR2 0.805 -0.025 -3 0.857
BMPR2BMPR2 0.804 -0.040 -2 0.879
NLKNLK 0.803 0.002 1 0.832
RAF1RAF1 0.803 -0.068 1 0.815
MLK1MLK1 0.802 0.015 2 0.824
ERK5ERK5 0.802 -0.003 1 0.831
ACVR2BACVR2B 0.801 0.173 -2 0.823
IKKAIKKA 0.801 0.010 -2 0.747
NEK6NEK6 0.800 -0.053 -2 0.866
GRK6GRK6 0.799 0.044 1 0.838
GRK5GRK5 0.799 -0.049 -3 0.905
ATRATR 0.799 -0.036 1 0.806
TGFBR2TGFBR2 0.798 -0.029 -2 0.826
MST4MST4 0.798 0.001 2 0.885
RIPK3RIPK3 0.798 -0.004 3 0.772
NEK7NEK7 0.798 -0.077 -3 0.870
CHAK2CHAK2 0.797 -0.033 -1 0.232
CDKL1CDKL1 0.797 -0.012 -3 0.819
PDHK4PDHK4 0.797 -0.225 1 0.824
GRK7GRK7 0.797 0.100 1 0.769
CAMK1BCAMK1B 0.797 -0.051 -3 0.872
ACVR2AACVR2A 0.796 0.111 -2 0.808
GRK4GRK4 0.796 0.002 -2 0.874
IKKEIKKE 0.795 -0.087 1 0.692
TGFBR1TGFBR1 0.795 0.082 -2 0.825
SKMLCKSKMLCK 0.795 -0.024 -2 0.833
BMPR1ABMPR1A 0.795 0.125 1 0.821
TBK1TBK1 0.795 -0.120 1 0.695
FAM20CFAM20C 0.794 0.028 2 0.599
SRPK1SRPK1 0.793 0.005 -3 0.761
ALK2ALK2 0.793 0.090 -2 0.850
ULK2ULK2 0.793 -0.158 2 0.774
NDR1NDR1 0.793 -0.059 -3 0.847
PIM1PIM1 0.792 -0.019 -3 0.792
NIKNIK 0.791 -0.105 -3 0.894
MLK3MLK3 0.791 -0.003 2 0.765
PKN3PKN3 0.791 -0.037 -3 0.838
ATMATM 0.791 -0.018 1 0.748
ALK4ALK4 0.790 0.032 -2 0.843
BCKDKBCKDK 0.790 -0.130 -1 0.193
HIPK4HIPK4 0.790 -0.025 1 0.804
PDHK1PDHK1 0.790 -0.212 1 0.799
DLKDLK 0.790 -0.018 1 0.805
ANKRD3ANKRD3 0.790 -0.013 1 0.823
RSK2RSK2 0.789 -0.039 -3 0.776
CDKL5CDKL5 0.789 -0.021 -3 0.808
CAMLCKCAMLCK 0.789 -0.054 -2 0.819
CDK1CDK1 0.789 0.050 1 0.678
LATS1LATS1 0.789 0.011 -3 0.879
LATS2LATS2 0.789 -0.060 -5 0.761
WNK1WNK1 0.789 -0.086 -2 0.849
HUNKHUNK 0.788 -0.098 2 0.779
PRKD1PRKD1 0.788 -0.084 -3 0.826
MLK4MLK4 0.787 0.002 2 0.739
PKN2PKN2 0.787 -0.042 -3 0.849
DAPK2DAPK2 0.787 -0.065 -3 0.880
PLK1PLK1 0.787 0.001 -2 0.817
NUAK2NUAK2 0.787 -0.079 -3 0.843
MARK4MARK4 0.786 -0.080 4 0.885
PKCDPKCD 0.786 -0.063 2 0.802
MLK2MLK2 0.785 -0.100 2 0.830
ICKICK 0.785 -0.049 -3 0.853
GRK2GRK2 0.785 0.053 -2 0.748
CAMK2BCAMK2B 0.785 -0.015 2 0.798
PRKD2PRKD2 0.784 -0.064 -3 0.762
CDK8CDK8 0.784 -0.020 1 0.686
PKRPKR 0.784 -0.026 1 0.823
AURCAURC 0.784 -0.030 -2 0.620
ULK1ULK1 0.783 -0.154 -3 0.847
P90RSKP90RSK 0.783 -0.071 -3 0.779
MASTLMASTL 0.783 -0.160 -2 0.822
WNK3WNK3 0.783 -0.184 1 0.773
P70S6KBP70S6KB 0.782 -0.052 -3 0.802
NEK9NEK9 0.782 -0.179 2 0.837
CK1ECK1E 0.782 0.104 -3 0.623
RIPK1RIPK1 0.781 -0.122 1 0.790
SRPK2SRPK2 0.781 -0.013 -3 0.682
PKACGPKACG 0.781 -0.064 -2 0.721
CAMK2DCAMK2D 0.781 -0.111 -3 0.847
AMPKA1AMPKA1 0.781 -0.095 -3 0.858
YSK4YSK4 0.780 -0.063 1 0.738
CK2A2CK2A2 0.780 0.103 1 0.749
MAPKAPK2MAPKAPK2 0.780 -0.032 -3 0.735
SRPK3SRPK3 0.780 -0.004 -3 0.739
RSK3RSK3 0.780 -0.073 -3 0.767
MEK1MEK1 0.780 -0.066 2 0.826
TTBK2TTBK2 0.780 -0.097 2 0.668
CAMK2ACAMK2A 0.780 -0.029 2 0.817
CDK7CDK7 0.779 -0.023 1 0.701
CDK18CDK18 0.779 0.008 1 0.642
CLK2CLK2 0.779 0.034 -3 0.746
DYRK2DYRK2 0.779 -0.010 1 0.734
RSK4RSK4 0.779 -0.018 -3 0.746
CDK19CDK19 0.779 -0.017 1 0.652
CDK5CDK5 0.778 0.009 1 0.721
MAPKAPK3MAPKAPK3 0.778 -0.089 -3 0.777
JNK3JNK3 0.778 0.019 1 0.682
IRE1IRE1 0.778 -0.110 1 0.780
TLK2TLK2 0.778 -0.061 1 0.763
PKCBPKCB 0.777 -0.057 2 0.755
CLK4CLK4 0.777 -0.021 -3 0.771
MEKK3MEKK3 0.776 0.028 1 0.775
CDK2CDK2 0.776 0.006 1 0.746
PASKPASK 0.776 0.053 -3 0.873
CDK13CDK13 0.776 -0.020 1 0.676
TSSK2TSSK2 0.776 -0.105 -5 0.803
SMG1SMG1 0.776 -0.091 1 0.752
PRKXPRKX 0.775 0.003 -3 0.679
CK1DCK1D 0.775 0.102 -3 0.578
VRK2VRK2 0.775 -0.141 1 0.845
JNK2JNK2 0.775 0.017 1 0.649
GRK3GRK3 0.775 0.062 -2 0.722
DRAK1DRAK1 0.775 -0.019 1 0.791
ERK1ERK1 0.774 0.004 1 0.660
PKCGPKCG 0.774 -0.067 2 0.748
NIM1NIM1 0.774 -0.145 3 0.791
TSSK1TSSK1 0.774 -0.107 -3 0.870
CDK17CDK17 0.773 0.009 1 0.594
PERKPERK 0.773 -0.087 -2 0.866
PKACBPKACB 0.773 -0.024 -2 0.641
GAKGAK 0.773 0.113 1 0.842
MSK2MSK2 0.773 -0.072 -3 0.756
MYLK4MYLK4 0.773 -0.032 -2 0.745
P38BP38B 0.773 0.005 1 0.674
CLK1CLK1 0.773 -0.025 -3 0.739
AMPKA2AMPKA2 0.772 -0.101 -3 0.823
DNAPKDNAPK 0.772 -0.056 1 0.670
CDK3CDK3 0.772 0.043 1 0.614
QSKQSK 0.772 -0.072 4 0.867
HIPK1HIPK1 0.772 0.007 1 0.747
PKCAPKCA 0.772 -0.072 2 0.752
HIPK2HIPK2 0.772 0.016 1 0.653
IRE2IRE2 0.772 -0.111 2 0.746
PLK3PLK3 0.772 -0.079 2 0.746
PAK1PAK1 0.772 -0.086 -2 0.736
AURBAURB 0.772 -0.046 -2 0.619
CAMK4CAMK4 0.771 -0.123 -3 0.825
MSK1MSK1 0.771 -0.041 -3 0.760
CK2A1CK2A1 0.771 0.102 1 0.731
P38GP38G 0.771 0.014 1 0.588
MST3MST3 0.771 0.004 2 0.848
CHAK1CHAK1 0.771 -0.135 2 0.760
P38AP38A 0.771 -0.021 1 0.735
ERK2ERK2 0.770 -0.017 1 0.700
NUAK1NUAK1 0.769 -0.100 -3 0.790
CK1A2CK1A2 0.769 0.097 -3 0.573
QIKQIK 0.769 -0.128 -3 0.841
PKCZPKCZ 0.769 -0.108 2 0.780
PRP4PRP4 0.769 -0.001 -3 0.791
PRKD3PRKD3 0.768 -0.077 -3 0.736
MEKK2MEKK2 0.768 -0.057 2 0.804
CDK12CDK12 0.768 -0.022 1 0.650
PKCHPKCH 0.768 -0.088 2 0.735
BRAFBRAF 0.768 -0.098 -4 0.856
MEKK1MEKK1 0.768 -0.102 1 0.766
AURAAURA 0.768 -0.033 -2 0.593
PHKG1PHKG1 0.767 -0.103 -3 0.829
GSK3AGSK3A 0.767 0.036 4 0.512
TAO3TAO3 0.767 -0.048 1 0.765
MARK3MARK3 0.767 -0.056 4 0.833
SIKSIK 0.767 -0.085 -3 0.763
PAK3PAK3 0.767 -0.129 -2 0.737
NEK2NEK2 0.767 -0.175 2 0.813
MELKMELK 0.766 -0.124 -3 0.802
ZAKZAK 0.766 -0.106 1 0.738
HRIHRI 0.766 -0.146 -2 0.854
MEK5MEK5 0.766 -0.131 2 0.820
TLK1TLK1 0.766 -0.070 -2 0.854
PIM2PIM2 0.766 -0.042 -3 0.747
MNK2MNK2 0.766 -0.121 -2 0.745
MARK2MARK2 0.765 -0.066 4 0.800
PINK1PINK1 0.765 -0.139 1 0.826
CDK16CDK16 0.765 0.012 1 0.609
CDK14CDK14 0.764 -0.004 1 0.683
MPSK1MPSK1 0.764 -0.036 1 0.780
GSK3BGSK3B 0.764 0.014 4 0.504
TAK1TAK1 0.764 0.047 1 0.785
CAMK1GCAMK1G 0.764 -0.046 -3 0.761
BRSK1BRSK1 0.764 -0.087 -3 0.790
AKT2AKT2 0.763 -0.038 -3 0.685
PKG2PKG2 0.763 -0.062 -2 0.639
NEK5NEK5 0.763 -0.143 1 0.798
CDK9CDK9 0.763 -0.045 1 0.682
PLK4PLK4 0.763 -0.113 2 0.601
PAK2PAK2 0.763 -0.118 -2 0.729
MNK1MNK1 0.762 -0.110 -2 0.754
CDK10CDK10 0.762 0.010 1 0.673
P38DP38D 0.762 0.007 1 0.597
SGK3SGK3 0.762 -0.073 -3 0.771
DYRK4DYRK4 0.761 0.005 1 0.664
CHK1CHK1 0.761 -0.143 -3 0.828
MST2MST2 0.761 -0.012 1 0.781
PAK6PAK6 0.761 -0.087 -2 0.658
GCKGCK 0.760 -0.017 1 0.785
MARK1MARK1 0.759 -0.086 4 0.847
DYRK1ADYRK1A 0.759 -0.035 1 0.750
NEK8NEK8 0.759 -0.106 2 0.814
CK1G1CK1G1 0.759 -0.011 -3 0.629
HIPK3HIPK3 0.759 -0.034 1 0.729
SMMLCKSMMLCK 0.758 -0.061 -3 0.827
CAMKK1CAMKK1 0.758 -0.140 -2 0.772
SNRKSNRK 0.758 -0.135 2 0.662
DYRK1BDYRK1B 0.758 -0.015 1 0.697
IRAK4IRAK4 0.758 -0.156 1 0.774
WNK4WNK4 0.757 -0.154 -2 0.845
NEK11NEK11 0.757 -0.081 1 0.765
BRSK2BRSK2 0.757 -0.132 -3 0.814
PLK2PLK2 0.757 -0.008 -3 0.801
BMPR2_TYRBMPR2_TYR 0.756 0.400 -1 0.385
DCAMKL1DCAMKL1 0.756 -0.113 -3 0.778
MAPKAPK5MAPKAPK5 0.756 -0.127 -3 0.726
ERK7ERK7 0.755 -0.011 2 0.564
JNK1JNK1 0.755 0.008 1 0.642
TAO2TAO2 0.754 -0.105 2 0.851
DYRK3DYRK3 0.754 -0.030 1 0.748
PKCTPKCT 0.754 -0.106 2 0.745
DAPK3DAPK3 0.754 -0.030 -3 0.802
HPK1HPK1 0.753 -0.038 1 0.773
PKACAPKACA 0.753 -0.046 -2 0.585
MINKMINK 0.753 -0.060 1 0.761
IRAK1IRAK1 0.752 -0.190 -1 0.190
TNIKTNIK 0.752 -0.062 3 0.868
CAMKK2CAMKK2 0.752 -0.151 -2 0.757
SSTKSSTK 0.752 -0.081 4 0.848
P70S6KP70S6K 0.751 -0.077 -3 0.713
TTBK1TTBK1 0.751 -0.134 2 0.579
PDHK3_TYRPDHK3_TYR 0.751 0.128 4 0.919
PKCIPKCI 0.750 -0.100 2 0.752
EEF2KEEF2K 0.750 -0.060 3 0.834
AKT1AKT1 0.750 -0.058 -3 0.704
PDK1PDK1 0.750 -0.112 1 0.764
LKB1LKB1 0.749 -0.153 -3 0.851
PKCEPKCE 0.749 -0.056 2 0.737
HGKHGK 0.749 -0.110 3 0.866
PDHK4_TYRPDHK4_TYR 0.748 0.185 2 0.881
DAPK1DAPK1 0.748 -0.020 -3 0.787
MST1MST1 0.748 -0.075 1 0.760
DCAMKL2DCAMKL2 0.747 -0.117 -3 0.799
MAKMAK 0.747 -0.002 -2 0.661
LRRK2LRRK2 0.747 -0.146 2 0.838
SLKSLK 0.747 -0.087 -2 0.713
ALPHAK3ALPHAK3 0.747 0.056 -1 0.266
MAP2K6_TYRMAP2K6_TYR 0.746 0.153 -1 0.282
CDK6CDK6 0.746 -0.021 1 0.657
EPHA6EPHA6 0.746 0.247 -1 0.370
VRK1VRK1 0.745 -0.109 2 0.802
PDHK1_TYRPDHK1_TYR 0.745 0.195 -1 0.312
PHKG2PHKG2 0.744 -0.119 -3 0.793
OSR1OSR1 0.744 0.002 2 0.809
KHS2KHS2 0.744 -0.048 1 0.770
TXKTXK 0.744 0.188 1 0.838
NEK4NEK4 0.744 -0.190 1 0.756
TTKTTK 0.744 0.007 -2 0.844
MEKK6MEKK6 0.744 -0.146 1 0.759
MAP3K15MAP3K15 0.744 -0.133 1 0.719
CAMK1DCAMK1D 0.744 -0.084 -3 0.672
PTK2PTK2 0.743 0.351 -1 0.508
LOKLOK 0.743 -0.133 -2 0.756
KHS1KHS1 0.742 -0.082 1 0.752
HASPINHASPIN 0.742 -0.051 -1 0.176
MAP2K4_TYRMAP2K4_TYR 0.741 0.016 -1 0.253
PAK5PAK5 0.741 -0.108 -2 0.602
LCKLCK 0.741 0.263 -1 0.383
MOKMOK 0.740 -0.027 1 0.774
NEK1NEK1 0.740 -0.191 1 0.766
FYNFYN 0.740 0.298 -1 0.426
BUB1BUB1 0.740 -0.049 -5 0.756
ROCK2ROCK2 0.740 -0.064 -3 0.794
BLKBLK 0.739 0.247 -1 0.379
CDK4CDK4 0.739 -0.033 1 0.637
CK1ACK1A 0.739 0.066 -3 0.490
TESK1_TYRTESK1_TYR 0.739 -0.015 3 0.886
AKT3AKT3 0.738 -0.044 -3 0.623
SYKSYK 0.738 0.329 -1 0.457
PAK4PAK4 0.738 -0.097 -2 0.604
STK33STK33 0.737 -0.142 2 0.594
SGK1SGK1 0.737 -0.045 -3 0.610
YSK1YSK1 0.736 -0.124 2 0.822
PBKPBK 0.736 -0.068 1 0.763
EPHB4EPHB4 0.736 0.084 -1 0.294
PKMYT1_TYRPKMYT1_TYR 0.736 -0.038 3 0.857
MRCKAMRCKA 0.736 -0.079 -3 0.759
MRCKBMRCKB 0.736 -0.071 -3 0.738
CHK2CHK2 0.735 -0.071 -3 0.626
MAP2K7_TYRMAP2K7_TYR 0.735 -0.071 2 0.851
PINK1_TYRPINK1_TYR 0.734 0.001 1 0.814
RIPK2RIPK2 0.734 -0.177 1 0.693
HCKHCK 0.734 0.180 -1 0.350
MEK2MEK2 0.733 -0.226 2 0.796
PKN1PKN1 0.733 -0.098 -3 0.723
DMPK1DMPK1 0.731 -0.038 -3 0.757
BMXBMX 0.731 0.071 -1 0.291
CAMK1ACAMK1A 0.730 -0.080 -3 0.647
EPHA4EPHA4 0.730 0.098 2 0.751
BIKEBIKE 0.729 -0.023 1 0.731
ITKITK 0.729 0.082 -1 0.297
YES1YES1 0.729 0.017 -1 0.268
MYO3AMYO3A 0.729 -0.073 1 0.761
JAK3JAK3 0.728 0.104 1 0.740
ABL2ABL2 0.728 -0.006 -1 0.240
FGRFGR 0.728 0.026 1 0.833
FERFER 0.728 -0.005 1 0.849
MYO3BMYO3B 0.728 -0.099 2 0.833
INSRRINSRR 0.727 0.063 3 0.762
SRMSSRMS 0.727 0.034 1 0.840
SBKSBK 0.727 -0.061 -3 0.558
EPHB2EPHB2 0.727 0.085 -1 0.302
LIMK2_TYRLIMK2_TYR 0.726 -0.121 -3 0.903
EPHB1EPHB1 0.725 0.055 1 0.830
FLT1FLT1 0.725 0.129 -1 0.353
TECTEC 0.724 -0.021 -1 0.219
EPHB3EPHB3 0.724 0.050 -1 0.295
YANK3YANK3 0.724 -0.038 2 0.376
ROCK1ROCK1 0.724 -0.073 -3 0.754
ASK1ASK1 0.723 -0.139 1 0.707
METMET 0.723 0.101 3 0.793
MST1RMST1R 0.723 -0.052 3 0.817
NEK3NEK3 0.723 -0.219 1 0.710
RETRET 0.723 -0.123 1 0.759
CRIKCRIK 0.723 -0.052 -3 0.708
ABL1ABL1 0.722 -0.042 -1 0.224
CSF1RCSF1R 0.721 -0.048 3 0.797
TYRO3TYRO3 0.721 -0.129 3 0.805
TYK2TYK2 0.720 -0.124 1 0.753
EPHA8EPHA8 0.720 0.149 -1 0.377
LIMK1_TYRLIMK1_TYR 0.720 -0.189 2 0.842
KITKIT 0.720 -0.008 3 0.799
ROS1ROS1 0.719 -0.102 3 0.780
EPHA7EPHA7 0.719 0.074 2 0.747
PKG1PKG1 0.719 -0.095 -2 0.551
LYNLYN 0.719 0.104 3 0.714
JAK2JAK2 0.718 -0.088 1 0.745
SRCSRC 0.718 0.113 -1 0.345
TAO1TAO1 0.718 -0.142 1 0.682
KDRKDR 0.718 0.018 3 0.764
STLK3STLK3 0.717 -0.101 1 0.702
WEE1_TYRWEE1_TYR 0.717 -0.057 -1 0.204
EPHA5EPHA5 0.716 0.063 2 0.736
FGFR2FGFR2 0.716 -0.051 3 0.807
BTKBTK 0.715 -0.087 -1 0.235
FRKFRK 0.715 0.078 -1 0.336
ZAP70ZAP70 0.715 0.161 -1 0.396
EPHA3EPHA3 0.715 0.022 2 0.725
TNK2TNK2 0.715 -0.101 3 0.778
MERTKMERTK 0.714 -0.070 3 0.775
DDR1DDR1 0.714 -0.165 4 0.834
CK1G2CK1G2 0.713 0.115 -3 0.541
EPHA2EPHA2 0.713 0.133 -1 0.371
ERBB2ERBB2 0.712 0.022 1 0.723
FLT3FLT3 0.712 -0.081 3 0.792
FGFR3FGFR3 0.712 -0.001 3 0.782
PTK6PTK6 0.711 -0.150 -1 0.189
TEKTEK 0.710 -0.069 3 0.745
PDGFRBPDGFRB 0.710 -0.147 3 0.810
AAK1AAK1 0.710 -0.015 1 0.637
MATKMATK 0.709 -0.068 -1 0.205
EGFREGFR 0.709 0.022 1 0.631
EPHA1EPHA1 0.709 -0.018 3 0.765
JAK1JAK1 0.709 -0.087 1 0.692
NEK10_TYRNEK10_TYR 0.708 -0.142 1 0.636
ERBB4ERBB4 0.708 0.138 1 0.676
CK1G3CK1G3 0.707 0.009 -3 0.443
AXLAXL 0.707 -0.159 3 0.786
PTK2BPTK2B 0.706 -0.054 -1 0.207
NTRK1NTRK1 0.706 -0.111 -1 0.233
FGFR1FGFR1 0.706 -0.125 3 0.772
NTRK3NTRK3 0.705 -0.080 -1 0.220
ALKALK 0.705 -0.121 3 0.725
LTKLTK 0.704 -0.129 3 0.743
INSRINSR 0.704 -0.063 3 0.740
FLT4FLT4 0.703 -0.064 3 0.755
TNNI3K_TYRTNNI3K_TYR 0.703 -0.156 1 0.770
FGFR4FGFR4 0.702 -0.037 -1 0.245
NTRK2NTRK2 0.702 -0.133 3 0.762
TNK1TNK1 0.701 -0.206 3 0.782
PDGFRAPDGFRA 0.698 -0.205 3 0.808
IGF1RIGF1R 0.698 -0.000 3 0.677
CSKCSK 0.697 -0.093 2 0.751
DDR2DDR2 0.696 -0.091 3 0.756
YANK2YANK2 0.694 -0.047 2 0.395
FESFES 0.692 -0.030 -1 0.246
MUSKMUSK 0.689 -0.086 1 0.631