Motif 553 (n=220)

Position-wise Probabilities

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uniprot genes site source protein function
I3L4J1 None S119 ochoa vesicle-fusing ATPase (EC 3.6.4.6) (Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). {ECO:0000256|ARBA:ARBA00059988}.
I3L4J1 None S121 ochoa vesicle-fusing ATPase (EC 3.6.4.6) (Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). {ECO:0000256|ARBA:ARBA00059988}.
O00470 MEIS1 S196 ochoa Homeobox protein Meis1 Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias. {ECO:0000269|PubMed:12609849}.
O00566 MPHOSPH10 S171 ochoa U3 small nucleolar ribonucleoprotein protein MPP10 (M phase phosphoprotein 10) Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing (PubMed:12655004). 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:12655004, ECO:0000269|PubMed:34516797}.
O00567 NOP56 S520 ochoa Nucleolar protein 56 (Nucleolar protein 5A) Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs (PubMed:12777385, PubMed:15574333). 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). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs) (PubMed:12777385, PubMed:39570315). {ECO:0000269|PubMed:12777385, ECO:0000269|PubMed:15574333, ECO:0000269|PubMed:34516797, ECO:0000269|PubMed:39570315}.
O14654 IRS4 S777 ochoa Insulin receptor substrate 4 (IRS-4) (160 kDa phosphotyrosine protein) (py160) (Phosphoprotein of 160 kDa) (pp160) Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2. {ECO:0000269|PubMed:10531310, ECO:0000269|PubMed:10594015, ECO:0000269|PubMed:12639902, ECO:0000269|PubMed:17408801, ECO:0000269|PubMed:9553137}.
O14730 RIOK3 S125 ochoa Serine/threonine-protein kinase RIO3 (EC 2.7.11.1) (RIO kinase 3) (sudD homolog) Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway (PubMed:19557502). May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 21S pre-rRNA to the mature 18S rRNA (PubMed:22418843). {ECO:0000269|PubMed:19557502, ECO:0000269|PubMed:22418843, ECO:0000269|PubMed:24807708, ECO:0000269|PubMed:25865883}.
O14770 MEIS2 S198 ochoa Homeobox protein Meis2 (Meis1-related protein 1) Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4. Isoform 3 and isoform 4 can bind to a EPHA8 promoter sequence containing the DNA motif 5'-CGGTCA-3'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5'-TGACAG-3'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription. {ECO:0000269|PubMed:10764806, ECO:0000269|PubMed:11279116, ECO:0000269|PubMed:21746878}.
O15020 SPTBN2 S31 ochoa Spectrin beta chain, non-erythrocytic 2 (Beta-III spectrin) (Spinocerebellar ataxia 5 protein) Probably plays an important role in neuronal membrane skeleton.
O15160 POLR1C S157 ochoa DNA-directed RNA polymerases I and III subunit RPAC1 (DNA-directed RNA polymerase I subunit C) (RNA polymerases I and III subunit AC1) (AC40) (DNA-directed RNA polymerases I and III 40 kDa polypeptide) (RPA40) (RPA39) (RPC40) DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft. {ECO:0000250|UniProtKB:P07703, ECO:0000269|PubMed:20413673, ECO:0000269|PubMed:34671025, ECO:0000269|PubMed:34887565, ECO:0000269|PubMed:36271492, ECO:0000305|PubMed:26151409}.
O43159 RRP8 S104 ochoa Ribosomal RNA-processing protein 8 (EC 2.1.1.-) (Cerebral protein 1) (Nucleomethylin) Essential 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. 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. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown. {ECO:0000269|PubMed:18485871}.
O43159 RRP8 S124 ochoa Ribosomal RNA-processing protein 8 (EC 2.1.1.-) (Cerebral protein 1) (Nucleomethylin) Essential 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. 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. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown. {ECO:0000269|PubMed:18485871}.
O43166 SIPA1L1 S1713 ochoa Signal-induced proliferation-associated 1-like protein 1 (SIPA1-like protein 1) (High-risk human papilloma viruses E6 oncoproteins targeted protein 1) (E6-targeted protein 1) Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity). {ECO:0000250}.
O43399 TPD52L2 S19 ochoa Tumor protein D54 (hD54) (Tumor protein D52-like 2) None
O43399 TPD52L2 S186 ochoa Tumor protein D54 (hD54) (Tumor protein D52-like 2) None
O60232 ZNRD2 S78 ochoa Protein ZNRD2 (Autoantigen p27) (Protein zinc ribbon domain type 2) (Sjoegren syndrome/scleroderma autoantigen 1) (Zinc ribbon domain-containing protein 2) Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies. {ECO:0000305|PubMed:9486406}.
O60293 ZFC3H1 S1298 ochoa Zinc finger C3H1 domain-containing protein (Coiled-coil domain-containing protein 131) (Proline/serine-rich coiled-coil protein 2) Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters. {ECO:0000269|PubMed:27871484}.
O60315 ZEB2 S142 ochoa Zinc finger E-box-binding homeobox 2 (Smad-interacting protein 1) (SMADIP1) (Zinc finger homeobox protein 1b) Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269|PubMed:16061479, ECO:0000269|PubMed:20516212}.
O60841 EIF5B S137 ochoa Eukaryotic translation initiation factor 5B (eIF-5B) (EC 3.6.5.3) (Translation initiation factor IF-2) Plays a role in translation initiation (PubMed:10659855, PubMed:35732735). Ribosome-dependent GTPase that promotes the joining of the 60S ribosomal subunit to the pre-initiation complex to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon (PubMed:10659855, PubMed:35732735). Together with eIF1A (EIF1AX), actively orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex (PubMed:12569173, PubMed:35732735). Is released after formation of the 80S initiation complex (PubMed:35732735). Its GTPase activity is not essential for ribosomal subunits joining, but GTP hydrolysis is needed for eIF1A (EIF1AX) ejection quickly followed by EIF5B release to form elongation-competent ribosomes (PubMed:10659855, PubMed:35732735). In contrast to its procaryotic homolog, does not promote recruitment of Met-rRNA to the small ribosomal subunit (PubMed:10659855). {ECO:0000269|PubMed:10659855, ECO:0000269|PubMed:12569173, ECO:0000269|PubMed:35732735}.
O60841 EIF5B S589 ochoa Eukaryotic translation initiation factor 5B (eIF-5B) (EC 3.6.5.3) (Translation initiation factor IF-2) Plays a role in translation initiation (PubMed:10659855, PubMed:35732735). Ribosome-dependent GTPase that promotes the joining of the 60S ribosomal subunit to the pre-initiation complex to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon (PubMed:10659855, PubMed:35732735). Together with eIF1A (EIF1AX), actively orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex (PubMed:12569173, PubMed:35732735). Is released after formation of the 80S initiation complex (PubMed:35732735). Its GTPase activity is not essential for ribosomal subunits joining, but GTP hydrolysis is needed for eIF1A (EIF1AX) ejection quickly followed by EIF5B release to form elongation-competent ribosomes (PubMed:10659855, PubMed:35732735). In contrast to its procaryotic homolog, does not promote recruitment of Met-rRNA to the small ribosomal subunit (PubMed:10659855). {ECO:0000269|PubMed:10659855, ECO:0000269|PubMed:12569173, ECO:0000269|PubMed:35732735}.
O60927 PPP1R11 S45 ochoa E3 ubiquitin-protein ligase PPP1R11 (EC 2.3.2.27) (Hemochromatosis candidate gene V protein) (HCG V) (Protein phosphatase 1 regulatory subunit 11) (Protein phosphatase inhibitor 3) Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2 (PubMed:27805901). Inhibitor of protein phosphatase 1 (PubMed:9843442). {ECO:0000269|PubMed:27805901, ECO:0000269|PubMed:9843442}.
O75128 COBL S440 ochoa Protein cordon-bleu Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. {ECO:0000250, ECO:0000269|PubMed:21816349}.
O75400 PRPF40A S832 ochoa Pre-mRNA-processing factor 40 homolog A (Fas ligand-associated factor 1) (Formin-binding protein 11) (Formin-binding protein 3) (Huntingtin yeast partner A) (Huntingtin-interacting protein 10) (HIP-10) (Huntingtin-interacting protein A) (Renal carcinoma antigen NY-REN-6) Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing. {ECO:0000250, ECO:0000269|PubMed:21834987}.
O75475 PSIP1 S208 ochoa PC4 and SFRS1-interacting protein (CLL-associated antigen KW-7) (Dense fine speckles 70 kDa protein) (DFS 70) (Lens epithelium-derived growth factor) (Transcriptional coactivator p75/p52) Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration. {ECO:0000269|PubMed:15642333}.
O75475 PSIP1 S273 ochoa|psp PC4 and SFRS1-interacting protein (CLL-associated antigen KW-7) (Dense fine speckles 70 kDa protein) (DFS 70) (Lens epithelium-derived growth factor) (Transcriptional coactivator p75/p52) Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration. {ECO:0000269|PubMed:15642333}.
O75554 WBP4 S262 ochoa WW domain-binding protein 4 (WBP-4) (Formin-binding protein 21) (WW domain-containing-binding protein 4) Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750). {ECO:0000269|PubMed:19592703, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9724750}.
O94874 UFL1 S458 ochoa E3 UFM1-protein ligase 1 (EC 2.3.2.-) (E3 UFM1-protein transferase 1) (Multiple alpha-helix protein located at ER) (Novel LZAP-binding protein) (Regulator of C53/LZAP and DDRGK1) E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to lysine residues on target proteins, and which plays a key role in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498, PubMed:27351204, PubMed:30626644, PubMed:30783677, PubMed:32160526, PubMed:32807901, PubMed:35394863, PubMed:36121123, PubMed:36543799, PubMed:36893266, PubMed:37036982, PubMed:37311461, PubMed:37595036, PubMed:37795761, PubMed:38377992, PubMed:38383785, PubMed:38383789). Catalyzes ufmylation of many protein, such as CD274/PD-L1, CDK5RAP3, CYB5R3, DDRGK1, EIF6, histone H4, MRE11, P4HB, PDCD1/PD-1, TRIP4, RPN1, RPS20/uS10, RPL10/uL16, RPL26/uL24, SYVN1/HRD1 and TP53/p53 (PubMed:20018847, PubMed:20531390, PubMed:25219498, PubMed:30783677, PubMed:30886146, PubMed:32160526, PubMed:35753586, PubMed:36543799, PubMed:36893266, PubMed:37036982, PubMed:37595036, PubMed:37795761, PubMed:38383785, PubMed:38383789). As part of the UREL complex, plays a key role in ribosome recycling by catalyzing mono-ufmylation of RPL26/uL24 subunit of the 60S ribosome (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 occurs on free 60S ribosomes following ribosome dissociation: it weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum (PubMed:37036982, PubMed:37595036, PubMed:38383785, PubMed:38383789). Involved in reticulophagy in response to endoplasmic reticulum stress by mediating ufmylation of proteins such as CYB5R3 and RPN1, thereby promoting lysosomal degradation of ufmylated proteins (PubMed:23152784, PubMed:32160526, PubMed:36543799). Ufmylation in response to endoplasmic reticulum stress is essential for processes such as hematopoiesis, blood vessel morphogenesis or inflammatory response (PubMed:32050156). Mediates ufmylation of DDRGK1 and CDK5RAP3; the role of these modifications is however unclear: as both DDRGK1 and CDK5RAP3 act as substrate adapters for ufmylation, it is uncertain whether ufmylation of these proteins is, a collateral effect or is required for ufmylation (PubMed:20018847, PubMed:20531390). Acts as a negative regulator of T-cell activation by mediating ufmylation and stabilization of PDCD1/PD-1 (PubMed:38377992). Also involved in the response to DNA damage: recruited to double-strand break sites following DNA damage and mediates monoufmylation of histone H4 and ufmylation of MRE11 (PubMed:30783677, PubMed:30886146). Mediates ufmylation of TP53/p53, promoting its stability (PubMed:32807901). Catalyzes ufmylation of TRIP4, thereby playing a role in nuclear receptor-mediated transcription (PubMed:25219498). Required for hematopoietic stem cell function and hematopoiesis (By similarity). {ECO:0000250|UniProtKB:Q8CCJ3, ECO:0000269|PubMed:20018847, ECO:0000269|PubMed:20164180, ECO:0000269|PubMed:20228063, ECO:0000269|PubMed:20531390, ECO:0000269|PubMed:23152784, ECO:0000269|PubMed:25219498, ECO:0000269|PubMed:27351204, ECO:0000269|PubMed:30626644, ECO:0000269|PubMed:30783677, ECO:0000269|PubMed:30886146, ECO:0000269|PubMed:32050156, ECO:0000269|PubMed:32160526, ECO:0000269|PubMed:32807901, ECO:0000269|PubMed:35394863, ECO:0000269|PubMed:35753586, ECO:0000269|PubMed:36121123, ECO:0000269|PubMed:36543799, ECO:0000269|PubMed:36893266, ECO:0000269|PubMed:37036982, ECO:0000269|PubMed:37311461, ECO:0000269|PubMed:37595036, ECO:0000269|PubMed:37795761, ECO:0000269|PubMed:38377992, ECO:0000269|PubMed:38383785, ECO:0000269|PubMed:38383789}.
O94880 PHF14 S59 ochoa PHD finger protein 14 Histone-binding protein (PubMed:23688586). Binds preferentially to unmodified histone H3 but can also bind to a lesser extent to histone H3 trimethylated at 'Lys-9' (H3K9me3) as well as to histone H3 monomethylated at 'Lys-27' (H3K27ac) and trimethylated at 'Lys-27' (H3K27me3) (By similarity). Represses PDGFRA expression, thus playing a role in regulation of mesenchymal cell proliferation (By similarity). Suppresses the expression of CDKN1A/p21 by reducing the level of trimethylation of histone H3 'Lys-4', leading to enhanced proliferation of germinal center B cells (By similarity). {ECO:0000250|UniProtKB:A0A286Y9D1, ECO:0000250|UniProtKB:Q9D4H9, ECO:0000269|PubMed:23688586}.
O95400 CD2BP2 S139 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}.
P00374 DHFR S168 psp Dihydrofolate reductase (EC 1.5.1.3) Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2. {ECO:0000269|PubMed:12096917, ECO:0000269|PubMed:21876188}.
P10909 CLU S396 ochoa|psp Clusterin (Aging-associated gene 4 protein) (Apolipoprotein J) (Apo-J) (Complement cytolysis inhibitor) (CLI) (Complement-associated protein SP-40,40) (Ku70-binding protein 1) (NA1/NA2) (Sulfated glycoprotein 2) (SGP-2) (Testosterone-repressed prostate message 2) (TRPM-2) [Cleaved into: Clusterin beta chain (ApoJalpha) (Complement cytolysis inhibitor a chain) (SP-40,40 beta-chain); Clusterin alpha chain (ApoJbeta) (Complement cytolysis inhibitor b chain) (SP-40,40 alpha-chain)] [Isoform 1]: Functions as extracellular chaperone that prevents aggregation of non native proteins (PubMed:11123922, PubMed:19535339). Prevents stress-induced aggregation of blood plasma proteins (PubMed:11123922, PubMed:12176985, PubMed:17260971, PubMed:19996109). Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro) (PubMed:12047389, PubMed:17407782, PubMed:17412999). Does not require ATP (PubMed:11123922). Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70 (PubMed:11123922). Does not refold proteins by itself (PubMed:11123922). Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation (PubMed:21505792). Protects cells against apoptosis and against cytolysis by complement: inhibits assembly of the complement membrane attack complex (MAC) by preventing polymerization of C9 pore component of the MAC complex (PubMed:2780565, PubMed:1903064, PubMed:2601725, PubMed:2721499, PubMed:1551440, PubMed:9200695, PubMed:34667172). Intracellular forms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:20068069). Promotes proteasomal degradation of COMMD1 and IKBKB (PubMed:20068069). Modulates NF-kappa-B transcriptional activity (PubMed:12882985). A mitochondrial form suppresses BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis (PubMed:16113678, PubMed:17689225). Plays a role in the regulation of cell proliferation (PubMed:19137541). An intracellular form suppresses stress-induced apoptosis by stabilizing mitochondrial membrane integrity through interaction with HSPA5 (PubMed:22689054). Secreted form does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Secreted form act as an important modulator during neuronal differentiation through interaction with STMN3 (By similarity). Plays a role in the clearance of immune complexes that arise during cell injury (By similarity). {ECO:0000250|UniProtKB:P05371, ECO:0000250|UniProtKB:Q06890, ECO:0000269|PubMed:11123922, ECO:0000269|PubMed:12047389, ECO:0000269|PubMed:12176985, ECO:0000269|PubMed:12882985, ECO:0000269|PubMed:1551440, ECO:0000269|PubMed:16113678, ECO:0000269|PubMed:17260971, ECO:0000269|PubMed:17407782, ECO:0000269|PubMed:17412999, ECO:0000269|PubMed:17689225, ECO:0000269|PubMed:1903064, ECO:0000269|PubMed:19137541, ECO:0000269|PubMed:19535339, ECO:0000269|PubMed:19996109, ECO:0000269|PubMed:20068069, ECO:0000269|PubMed:21505792, ECO:0000269|PubMed:22689054, ECO:0000269|PubMed:24073260, ECO:0000269|PubMed:2601725, ECO:0000269|PubMed:2721499, ECO:0000269|PubMed:2780565, ECO:0000269|PubMed:34667172, ECO:0000269|PubMed:9200695}.; FUNCTION: [Isoform 6]: Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity. {ECO:0000269|PubMed:24073260}.; FUNCTION: [Isoform 4]: Does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity (PubMed:24073260). Promotes cell death through interaction with BCL2L1 that releases and activates BAX (PubMed:21567405). {ECO:0000269|PubMed:21567405, ECO:0000269|PubMed:24073260}.
P11388 TOP2A S1474 ochoa DNA topoisomerase 2-alpha (EC 5.6.2.2) (DNA topoisomerase II, alpha isozyme) Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand (PubMed:17567603, PubMed:18790802, PubMed:22013166, PubMed:22323612). May play a role in regulating the period length of BMAL1 transcriptional oscillation (By similarity). {ECO:0000250|UniProtKB:Q01320, ECO:0000269|PubMed:17567603, ECO:0000269|PubMed:18790802, ECO:0000269|PubMed:22013166, ECO:0000269|PubMed:22323612}.
P11388 TOP2A S1476 ochoa DNA topoisomerase 2-alpha (EC 5.6.2.2) (DNA topoisomerase II, alpha isozyme) Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand (PubMed:17567603, PubMed:18790802, PubMed:22013166, PubMed:22323612). May play a role in regulating the period length of BMAL1 transcriptional oscillation (By similarity). {ECO:0000250|UniProtKB:Q01320, ECO:0000269|PubMed:17567603, ECO:0000269|PubMed:18790802, ECO:0000269|PubMed:22013166, ECO:0000269|PubMed:22323612}.
P13674 P4HA1 S345 ochoa Prolyl 4-hydroxylase subunit alpha-1 (4-PH alpha-1) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1) Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. {ECO:0000269|PubMed:9211872}.
P14859 POU2F1 S283 ochoa POU domain, class 2, transcription factor 1 (NF-A1) (Octamer-binding protein 1) (Oct-1) (Octamer-binding transcription factor 1) (OTF-1) Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR. {ECO:0000269|PubMed:10480874, ECO:0000269|PubMed:1684878, ECO:0000269|PubMed:7859290}.; FUNCTION: (Microbial infection) In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes. {ECO:0000305|PubMed:12826401}.
P15531 NME1 S120 ochoa|psp Nucleoside diphosphate kinase A (NDK A) (NDP kinase A) (EC 2.7.4.6) (Granzyme A-activated DNase) (GAAD) (Metastasis inhibition factor nm23) (NM23-H1) (Tumor metastatic process-associated protein) Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. During GZMA-mediated cell death, works in concert with TREX1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair. {ECO:0000269|PubMed:12628186, ECO:0000269|PubMed:16818237, ECO:0000269|PubMed:8810265}.
P25205 MCM3 S275 ochoa DNA replication licensing factor MCM3 (EC 3.6.4.12) (DNA polymerase alpha holoenzyme-associated protein P1) (P1-MCM3) (RLF subunit beta) (p102) Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:32453425). Required for the entry in S phase and for cell division (Probable). {ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232, ECO:0000305|PubMed:35585232}.
P29728 OAS2 S407 ochoa 2'-5'-oligoadenylate synthase 2 ((2-5')oligo(A) synthase 2) (2-5A synthase 2) (EC 2.7.7.84) (p69 OAS / p71 OAS) (p69OAS / p71OAS) Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response (PubMed:10464285, PubMed:9880569). Activated by detection of double stranded RNA (dsRNA): polymerizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNASEL) leading to its dimerization and subsequent activation (PubMed:10464285, PubMed:11682059, PubMed:9880569). Activation of RNASEL leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication (PubMed:10464285, PubMed:9880569). Can mediate the antiviral effect via the classical RNASEL-dependent pathway or an alternative antiviral pathway independent of RNASEL (PubMed:21142819). In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation (PubMed:21142819). May act as a negative regulator of lactation, stopping lactation in virally infected mammary gland lobules, thereby preventing transmission of viruses to neonates (By similarity). Non-infected lobules would not be affected, allowing efficient pup feeding during infection (By similarity). {ECO:0000250|UniProtKB:E9Q9A9, ECO:0000269|PubMed:10464285, ECO:0000269|PubMed:11682059, ECO:0000269|PubMed:19923450, ECO:0000269|PubMed:9880569, ECO:0000303|PubMed:21142819}.
P30414 NKTR S463 ochoa NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase) PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:8421688}.
P30414 NKTR S866 ochoa NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase) PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:8421688}.
P30414 NKTR S889 ochoa NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase) PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:8421688}.
P30414 NKTR S916 ochoa NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase) PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:8421688}.
P31751 AKT2 S128 ochoa RAC-beta serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase Akt-2) (Protein kinase B beta) (PKB beta) (RAC protein kinase beta) (RAC-PK-beta) Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. AKT regulates many processes including metabolism, proliferation, cell survival, growth and angiogenesis, through the phosphorylation of a range of downstream substrates. Over 100 substrates have been reported so far, although for most of them, the precise AKT kinase catalyzing the reaction was not specified. AKT regulates glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT also regulates the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT also regulates cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor 1 (IGF1). AKT mediates the antiapoptotic effects of IGF1. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development (PubMed:21432781, PubMed:21620960). In response to lysophosphatidic acid stimulation, inhibits the ciliogenesis cascade. In this context, phosphorylates WDR44, hence stabilizing its interaction with Rab11 and preventing the formation of the ciliogenic Rab11-FIP3-RAB3IP complex. Also phosphorylates RAB3IP/Rabin8, thus may affect RAB3IP guanine nucleotide exchange factor (GEF) activity toward Rab8, which is important for cilia growth (PubMed:31204173). Phosphorylates PKP1, facilitating its interaction with YWHAG and translocation to the nucleus, ultimately resulting in a reduction in keratinocyte intercellular adhesion (By similarity). Phosphorylation of PKP1 increases PKP1 protein stability, translocation to the cytoplasm away from desmosome plaques and PKP1-driven cap-dependent translation (PubMed:23444369). {ECO:0000250|UniProtKB:Q60823, ECO:0000269|PubMed:23444369, ECO:0000269|PubMed:31204173, ECO:0000303|PubMed:21432781, ECO:0000303|PubMed:21620960}.; FUNCTION: Several AKT2-specific substrates have been identified, including ANKRD2, C2CD5, CLK2 and PITX2. May play a role in myoblast differentiation. In this context, may act through PITX2 phosphorylation. Unphosphorylated PITX2 associates with an ELAVL1/HuR-containing complex, which stabilizes CCND1 cyclin mRNA, ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation (By similarity). Also involved in the negative regulation of myogenesis in response to stress conditions. In this context, acts by phosphorylating ANKRD2 (By similarity). May also be a key regulator of glucose uptake. Regulates insulin-stimulated glucose transport by the increase of glucose transporter GLUT4 translocation from intracellular stores to the plasma membrane. In this context, acts by phosphorylating C2CD5/CDP138 on 'Ser-197' in insulin-stimulated adipocytes (By similarity). Through the phosphorylation of CLK2 on 'Thr-343', involved in insulin-regulated suppression of hepatic gluconeogenesis (By similarity). {ECO:0000250|UniProtKB:Q60823}.
P34897 SHMT2 S50 ochoa Serine hydroxymethyltransferase, mitochondrial (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase) Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis (PubMed:24075985, PubMed:25619277, PubMed:29364879, PubMed:33015733). Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate (PubMed:25619277). Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA (PubMed:21876188). Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs (PubMed:29364879, PubMed:29452640). Associates with mitochondrial DNA (PubMed:18063578). In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex (PubMed:24075985). {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:21876188, ECO:0000269|PubMed:24075985, ECO:0000269|PubMed:25619277, ECO:0000269|PubMed:29364879, ECO:0000269|PubMed:29452640, ECO:0000269|PubMed:33015733}.
P35251 RFC1 S69 ochoa Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C large subunit) Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA (PubMed:9488738). This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Can bind single- or double-stranded DNA. {ECO:0000269|PubMed:8999859, ECO:0000269|PubMed:9488738}.
P36952 SERPINB5 S75 ochoa Serpin B5 (Maspin) (Peptidase inhibitor 5) (PI-5) Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
P40926 MDH2 S317 ochoa Malate dehydrogenase, mitochondrial (EC 1.1.1.37) None
P42166 TMPO S180 ochoa Lamina-associated polypeptide 2, isoform alpha (Thymopoietin isoform alpha) (TP alpha) (Thymopoietin-related peptide isoform alpha) (TPRP isoform alpha) [Cleaved into: Thymopoietin (TP) (Splenin); Thymopentin (TP5)] May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1.; FUNCTION: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
P42166 TMPO S184 ochoa Lamina-associated polypeptide 2, isoform alpha (Thymopoietin isoform alpha) (TP alpha) (Thymopoietin-related peptide isoform alpha) (TPRP isoform alpha) [Cleaved into: Thymopoietin (TP) (Splenin); Thymopentin (TP5)] May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1.; FUNCTION: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
P42568 MLLT3 S288 ochoa Protein AF-9 (ALL1-fused gene from chromosome 9 protein) (Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein) (YEATS domain-containing protein 3) Chromatin reader 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 (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619, PubMed:30374167, PubMed:30385749). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated and butyrylated at 'Lys-9' (H3K9ac and H3K9bu, respectively), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114, PubMed:30385749). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619). Recruitment of the SEC complex to crotonylated histones promotes recruitment of DOT1L on active chromatin to deposit histone H3 'Lys-79' methylation (H3K79me) (PubMed:25417107). Plays a key role in hematopoietic stem cell (HSC) maintenance by preserving, rather than conferring, HSC stemness (PubMed:31776511). Acts by binding to the transcription start site of active genes in HSCs and sustaining level of H3K79me2, probably by recruiting DOT1L (PubMed:31776511). {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114, ECO:0000269|PubMed:27545619, ECO:0000269|PubMed:30374167, ECO:0000269|PubMed:30385749, ECO:0000269|PubMed:31776511}.
P46100 ATRX S704 ochoa Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}.
P46100 ATRX S729 ochoa Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}.
P46100 ATRX S750 ochoa Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}.
P46100 ATRX Y817 ochoa Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}.
P46100 ATRX S1326 ochoa Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX) Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}.
P46821 MAP1B S1917 ochoa Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1] Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing. {ECO:0000250, ECO:0000269|PubMed:18195017, ECO:0000269|PubMed:33268592}.
P49685 GPR15 S333 ochoa G-protein coupled receptor 15 (Brother of Bonzo) (BoB) G protein-coupled receptor that plays an important role in immune homeostasis (PubMed:33758080, PubMed:38918398). Acts via its natural ligand GPR15LG, a chemokine-like polypeptide strongly expressed in gastrointestinal tissues. GPR15-GPR15LG signaling axis regulates intestinal homeostasis and inflammation through the migration of immune cells (PubMed:33758080, PubMed:38918398). Controls thereby the specific homing of T-cells, particularly FOXP3+ regulatory T-cells (Tregs), to the large intestine lamina propria (By similarity). Also required for skin localization of thymus-derived dendritic epidermal T-cells (By similarity). Plays an important role in mediating cytoprotective function as well as angiogenesis of thrombomodulin (By similarity). Mechanistically, preferentially signals through the Gi/o pathway to inhibit adenylate cyclase activity and activate a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores (PubMed:35510660). {ECO:0000250|UniProtKB:Q0VDU3, ECO:0000269|PubMed:33758080, ECO:0000269|PubMed:35510660, ECO:0000269|PubMed:38918398}.; FUNCTION: (Microbial infection) Acts as an alternative coreceptor with CD4 for HIV-1 infection. {ECO:0000269|PubMed:9791028}.
P49792 RANBP2 S2741 ochoa E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kDa nucleoporin) (Nuclear pore complex protein Nup358) (Nucleoporin Nup358) (Ran-binding protein 2) (RanBP2) (p270) E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Inhibits EIF4E-dependent mRNA export (PubMed:22902403). Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830). {ECO:0000269|PubMed:11792325, ECO:0000269|PubMed:12032081, ECO:0000269|PubMed:15378033, ECO:0000269|PubMed:15931224, ECO:0000269|PubMed:20386726, ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22194619, ECO:0000269|PubMed:22902403, ECO:0000269|PubMed:23353830, ECO:0000269|PubMed:7775481, ECO:0000303|PubMed:10078529}.
P49959 MRE11 S649 ochoa|psp Double-strand break repair protein MRE11 (EC 3.1.-.-) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A) Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:11741547, PubMed:14657032, PubMed:22078559, PubMed:23080121, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:28867292, PubMed:29670289, PubMed:30464262, PubMed:30612738, PubMed:31353207, PubMed:37696958, PubMed:38128537, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases (PubMed:24316220, PubMed:28867292, PubMed:31353207, PubMed:38128537). The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage (PubMed:24316220, PubMed:27889449, PubMed:28867292, PubMed:36050397, PubMed:38128537). Within the MRN complex, MRE11 possesses both single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity (PubMed:11741547, PubMed:22078559, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:29670289, PubMed:31353207, PubMed:36563124, PubMed:9590181, PubMed:9651580, PubMed:9705271). After DSBs, MRE11 is loaded onto DSBs sites and cleaves DNA by cooperating with RBBP8/CtIP to initiate end resection (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 first endonucleolytically cleaves the 5' strand at DNA DSB ends to prevent non-homologous end joining (NHEJ) and licence HR (PubMed:24316220). It then generates a single-stranded DNA gap via 3' to 5' exonucleolytic degradation to create entry sites for EXO1- and DNA2-mediated 5' to 3' long-range resection, which is required for single-strand invasion and recombination (PubMed:24316220, PubMed:28867292). RBBP8/CtIP specifically promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 endonuclease activity is also enhanced by AGER/RAGE (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR (PubMed:14657032, PubMed:15064416, PubMed:15790808, PubMed:16622404). The MRN complex is also required for the processing of R-loops (PubMed:31537797). The MRN complex is involved in the activation of the cGAS-STING pathway induced by DNA damage during tumorigenesis: the MRN complex acts by displacing CGAS from nucleosome sequestration, thereby activating it (By similarity). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888). {ECO:0000250|UniProtKB:Q61216, ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:11741547, ECO:0000269|PubMed:14657032, ECO:0000269|PubMed:15064416, ECO:0000269|PubMed:15790808, ECO:0000269|PubMed:16622404, ECO:0000269|PubMed:22078559, ECO:0000269|PubMed:23080121, ECO:0000269|PubMed:24316220, ECO:0000269|PubMed:26240375, ECO:0000269|PubMed:27814491, ECO:0000269|PubMed:27889449, ECO:0000269|PubMed:28867292, ECO:0000269|PubMed:29670289, ECO:0000269|PubMed:30464262, ECO:0000269|PubMed:30612738, ECO:0000269|PubMed:30787182, ECO:0000269|PubMed:31353207, ECO:0000269|PubMed:31537797, ECO:0000269|PubMed:36050397, ECO:0000269|PubMed:36563124, ECO:0000269|PubMed:37696958, ECO:0000269|PubMed:38128537, ECO:0000269|PubMed:9590181, ECO:0000269|PubMed:9651580, ECO:0000269|PubMed:9705271}.; FUNCTION: MRE11 contains two DNA-binding domains (DBDs), enabling it to bind both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). {ECO:0000305}.
P52701 MSH6 S252 ochoa DNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch-binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS-alpha 160 kDa subunit) (p160) Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction. {ECO:0000269|PubMed:10078208, ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679, ECO:0000269|PubMed:9822680}.
P54198 HIRA S612 ochoa Protein HIRA (TUP1-like enhancer of split protein 1) Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. {ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:15621527}.
P58215 LOXL3 S704 psp Lysyl oxidase homolog 3 (EC 1.4.3.-) (EC 1.4.3.13) (Lysyl oxidase-like protein 3) Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600). {ECO:0000250|UniProtKB:Q9Z175, ECO:0000269|PubMed:17018530, ECO:0000269|PubMed:28065600}.; FUNCTION: [Isoform 1]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530). {ECO:0000269|PubMed:17018530}.; FUNCTION: [Isoform 2]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530). {ECO:0000269|PubMed:17018530}.
P78411 IRX5 S248 ochoa Iroquois-class homeodomain protein IRX-5 (Homeodomain protein IRX-2A) (Homeodomain protein IRXB2) (Iroquois homeobox protein 5) Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12. {ECO:0000250, ECO:0000269|PubMed:22581230}.
P78559 MAP1A S2106 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.
P83916 CBX1 S89 ochoa Chromobox protein homolog 1 (HP1Hsbeta) (Heterochromatin protein 1 homolog beta) (HP1 beta) (Heterochromatin protein p25) (M31) (Modifier 1 protein) (p25beta) Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane. {ECO:0000250|UniProtKB:P83917}.
Q00059 TFAM S193 ochoa Transcription factor A, mitochondrial (mtTFA) (Mitochondrial transcription factor 1) (MtTF1) (Transcription factor 6) (TCF-6) (Transcription factor 6-like 2) Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:19304746, PubMed:22841477). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171). {ECO:0000269|PubMed:1737790, ECO:0000269|PubMed:19304746, ECO:0000269|PubMed:20410300, ECO:0000269|PubMed:22037171, ECO:0000269|PubMed:22037172, ECO:0000269|PubMed:22841477, ECO:0000269|PubMed:29149603, ECO:0000269|PubMed:29445193, ECO:0000269|PubMed:32183942}.
Q00688 FKBP3 S34 ochoa Peptidyl-prolyl cis-trans isomerase FKBP3 (PPIase FKBP3) (EC 5.2.1.8) (25 kDa FK506-binding protein) (25 kDa FKBP) (FKBP-25) (FK506-binding protein 3) (FKBP-3) (Immunophilin FKBP25) (Rapamycin-selective 25 kDa immunophilin) (Rotamase) FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins.
Q01538 MYT1 S91 ochoa Myelin transcription factor 1 (MyT1) (Myelin transcription factor I) (MyTI) (PLPB1) (Proteolipid protein-binding protein) Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription. {ECO:0000269|PubMed:14962745}.
Q02880 TOP2B S1344 ochoa DNA topoisomerase 2-beta (EC 5.6.2.2) (DNA topoisomerase II, beta isozyme) Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. {ECO:0000269|PubMed:10684600, ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574}.
Q02880 TOP2B S1522 ochoa DNA topoisomerase 2-beta (EC 5.6.2.2) (DNA topoisomerase II, beta isozyme) Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. {ECO:0000269|PubMed:10684600, ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574}.
Q02880 TOP2B S1524 ochoa DNA topoisomerase 2-beta (EC 5.6.2.2) (DNA topoisomerase II, beta isozyme) Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. {ECO:0000269|PubMed:10684600, ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574}.
Q02952 AKAP12 S629 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).
Q03001 DST S2527 ochoa Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein) Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). {ECO:0000250|UniProtKB:Q91ZU6}.; FUNCTION: [Isoform 3]: Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; FUNCTION: [Isoform 6]: Required for bundling actin filaments around the nucleus. {ECO:0000250, ECO:0000269|PubMed:10428034, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.; FUNCTION: [Isoform 7]: Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.
Q03111 MLLT1 S440 ochoa Protein ENL (YEATS domain-containing protein 1) Chromatin reader 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 (PubMed:20159561, PubMed:20471948). Specifically recognizes and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated (PubMed:27105114). Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20) (PubMed:27105114). {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:27105114}.; FUNCTION: Acts as a key chromatin reader in acute myeloid leukemia by recognizing and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription. {ECO:0000269|PubMed:28241139, ECO:0000269|PubMed:28241141}.
Q03164 KMT2A S1056 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 S308 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}.
Q03701 CEBPZ S149 ochoa CCAAT/enhancer-binding protein zeta (CCAAT-box-binding transcription factor) (CBF) (CCAAT-binding factor) Stimulates transcription from the HSP70 promoter.
Q07157 TJP1 Y1346 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}.
Q08170 SRSF4 S151 ochoa Serine/arginine-rich splicing factor 4 (Pre-mRNA-splicing factor SRP75) (SRP001LB) (Splicing factor, arginine/serine-rich 4) Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10. {ECO:0000269|PubMed:15009664}.
Q08378 GOLGA3 S983 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.
Q08945 SSRP1 S510 psp FACT complex subunit SSRP1 (Chromatin-specific transcription elongation factor 80 kDa subunit) (Facilitates chromatin transcription complex 80 kDa subunit) (FACT 80 kDa subunit) (FACTp80) (Facilitates chromatin transcription complex subunit SSRP1) (Recombination signal sequence recognition protein 1) (Structure-specific recognition protein 1) (hSSRP1) (T160) Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II). Binds specifically to double-stranded DNA and at low levels to DNA modified by the antitumor agent cisplatin. May potentiate cisplatin-induced cell death by blocking replication and repair of modified DNA. Also acts as a transcriptional coactivator for p63/TP63. {ECO:0000269|PubMed:10912001, ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:12374749, ECO:0000269|PubMed:12934006, ECO:0000269|PubMed:16713563, ECO:0000269|PubMed:9489704, ECO:0000269|PubMed:9566881, ECO:0000269|PubMed:9836642}.
Q09666 AHNAK S4522 ochoa Neuroblast differentiation-associated protein AHNAK (Desmoyokin) May be required for neuronal cell differentiation.
Q0ZGT2 NEXN S80 ochoa Nexilin (F-actin-binding protein) (Nelin) Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. {ECO:0000269|PubMed:12053183, ECO:0000269|PubMed:15823560, ECO:0000269|PubMed:19881492}.
Q13017 ARHGAP5 S1138 ochoa Rho GTPase-activating protein 5 (Rho-type GTPase-activating protein 5) (p190-B) GTPase-activating protein for Rho family members (PubMed:8537347). {ECO:0000269|PubMed:8537347}.
Q13017 ARHGAP5 S1218 ochoa Rho GTPase-activating protein 5 (Rho-type GTPase-activating protein 5) (p190-B) GTPase-activating protein for Rho family members (PubMed:8537347). {ECO:0000269|PubMed:8537347}.
Q13185 CBX3 S95 ochoa Chromobox protein homolog 3 (HECH) (Heterochromatin protein 1 homolog gamma) (HP1 gamma) (Modifier 2 protein) Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the recruitment of the methyltransferases SUV39H1 and/or SUV39H2 by the PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1. Mediates the recruitment of NIPBL to sites of DNA damage at double-strand breaks (DSBs) (PubMed:28167679). {ECO:0000250|UniProtKB:P23198, ECO:0000269|PubMed:28167679}.
Q13547 HDAC1 S421 ochoa|psp Histone deacetylase 1 (HD1) (EC 3.5.1.98) (Protein deacetylase HDAC1) (EC 3.5.1.-) (Protein deacylase HDAC1) (EC 3.5.1.-) Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:16762839, PubMed:17704056, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:16762839, PubMed:17704056). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:16762839, PubMed:17704056). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). As part of the SIN3B complex is recruited downstream of the constitutively active genes transcriptional start sites through interaction with histones and mitigates histone acetylation and RNA polymerase II progression within transcribed regions contributing to the regulation of transcription (PubMed:21041482). Also functions as a deacetylase for non-histone targets, such as NR1D2, RELA, SP1, SP3, STAT3 and TSHZ3 (PubMed:12837748, PubMed:16285960, PubMed:16478997, PubMed:17996965, PubMed:19343227). Deacetylates SP proteins, SP1 and SP3, and regulates their function (PubMed:12837748, PubMed:16478997). Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons (PubMed:19081374). Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates transcriptional activation (PubMed:19081374). Deacetylates TSHZ3 and regulates its transcriptional repressor activity (PubMed:19343227). Deacetylates 'Lys-310' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B (PubMed:17000776). Deacetylates NR1D2 and abrogates the effect of KAT5-mediated relieving of NR1D2 transcription repression activity (PubMed:17996965). Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development (By similarity). Involved in CIART-mediated transcriptional repression of the circadian transcriptional activator: CLOCK-BMAL1 heterodimer (By similarity). Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex or CRY1 through histone deacetylation (By similarity). In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase and delactylase by mediating decrotonylation ((2E)-butenoyl) and delactylation (lactoyl) of histones, respectively (PubMed:28497810, PubMed:35044827). {ECO:0000250|UniProtKB:O09106, ECO:0000269|PubMed:12837748, ECO:0000269|PubMed:16285960, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:16478997, ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17000776, ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:17996965, ECO:0000269|PubMed:19081374, ECO:0000269|PubMed:19343227, ECO:0000269|PubMed:21041482, ECO:0000269|PubMed:28497810, ECO:0000269|PubMed:28977666, ECO:0000269|PubMed:35044827}.
Q13796 SHROOM2 S1427 ochoa Protein Shroom2 (Apical-like protein) (Protein APXL) May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity). {ECO:0000250}.
Q14432 PDE3A S408 ochoa cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A (EC 3.1.4.17) (Cyclic GMP-inhibited phosphodiesterase A) (CGI-PDE A) (cGMP-inhibited cAMP phosphodiesterase) (cGI-PDE) Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling (PubMed:31420216, PubMed:34707099). {ECO:0000269|PubMed:1315035, ECO:0000269|PubMed:25961942, ECO:0000269|PubMed:27975297, ECO:0000269|PubMed:31420216, ECO:0000269|PubMed:34707099, ECO:0000269|PubMed:8155697, ECO:0000269|PubMed:8695850}.
Q14966 ZNF638 S628 ochoa Zinc finger protein 638 (Cutaneous T-cell lymphoma-associated antigen se33-1) (CTCL-associated antigen se33-1) (Nuclear protein 220) (Zinc finger matrin-like protein) Transcription factor that binds to cytidine clusters in double-stranded DNA (PubMed:30487602, PubMed:8647861). Plays a key role in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). Mediates transcriptional repression of unintegrated viral DNA by specifically binding to the cytidine clusters of retroviral DNA and mediating the recruitment of chromatin silencers, such as the HUSH complex, SETDB1 and the histone deacetylases HDAC1 and HDAC4 (PubMed:30487602). Acts as an early regulator of adipogenesis by acting as a transcription cofactor of CEBPs (CEBPA, CEBPD and/or CEBPG), controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). May also regulate alternative splicing of target genes during adipogenesis (By similarity). {ECO:0000250|UniProtKB:Q61464, ECO:0000269|PubMed:30487602, ECO:0000269|PubMed:8647861}.
Q15042 RAB3GAP1 S539 ochoa Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kDa subunit) (Rab3-GAP p130) (Rab3-GAP) Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:10859313, PubMed:24891604, PubMed:9030515). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP (PubMed:10859313). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones (PubMed:15696165). The Rab3GAP complex, acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604). Recruits and stabilizes RAB18 at the cis-Golgi membrane in fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (PubMed:15696165, PubMed:23420520). May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (PubMed:9030515, PubMed:9852129). {ECO:0000269|PubMed:10859313, ECO:0000269|PubMed:15696165, ECO:0000269|PubMed:23420520, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829, ECO:0000269|PubMed:9030515, ECO:0000269|PubMed:9852129}.
Q15047 SETDB1 S1138 ochoa Histone-lysine N-methyltransferase SETDB1 (EC 2.1.1.366) (ERG-associated protein with SET domain) (ESET) (Histone H3-K9 methyltransferase 4) (H3-K9-HMTase 4) (Lysine N-methyltransferase 1E) (SET domain bifurcated 1) Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation (PubMed:12869583, PubMed:27237050, PubMed:39096901). Required for HUSH-mediated heterochromatin formation and gene silencing. Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation (PubMed:14536086, PubMed:27732843). Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1 (PubMed:14536086). SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with TRIM28, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). {ECO:0000250|UniProtKB:O88974, ECO:0000269|PubMed:12869583, ECO:0000269|PubMed:14536086, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:27029610, ECO:0000269|PubMed:27237050, ECO:0000269|PubMed:27732843, ECO:0000269|PubMed:39096901}.
Q15054 POLD3 S307 ochoa DNA polymerase delta subunit 3 (DNA polymerase delta subunit C) (DNA polymerase delta subunit p66) (DNA polymerase delta subunit p68) Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex (PubMed:17317665, PubMed:22801543, PubMed:24449906). As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA (PubMed:10219083, PubMed:10852724, PubMed:11595739, PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation. In this context, POLD3, along with PCNA and RFC1-replication factor C complex, is required to recruit POLD1, the catalytic subunit of the polymerase delta complex, to DNA damage sites (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion (PubMed:19074196, PubMed:25628356, PubMed:27185888). Also involved in TLS, as a component of the tetrameric DNA polymerase zeta complex. Along with POLD2, dramatically increases the efficiency and processivity of DNA synthesis of the DNA polymerase zeta complex compared to the minimal zeta complex, consisting of only REV3L and REV7 (PubMed:24449906). {ECO:0000269|PubMed:10219083, ECO:0000269|PubMed:10852724, ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:16510448, ECO:0000269|PubMed:19074196, ECO:0000269|PubMed:20227374, ECO:0000269|PubMed:20334433, ECO:0000269|PubMed:24035200, ECO:0000269|PubMed:24310611, ECO:0000269|PubMed:24449906, ECO:0000269|PubMed:25628356, ECO:0000269|PubMed:27185888, ECO:0000269|PubMed:38099988}.
Q15311 RALBP1 S62 ochoa RalA-binding protein 1 (RalBP1) (76 kDa Ral-interacting protein) (Dinitrophenyl S-glutathione ATPase) (DNP-SG ATPase) (EC 7.6.2.2, EC 7.6.2.3) (Ral-interacting protein 1) Multifunctional protein that functions as a downstream effector of RALA and RALB (PubMed:7673236). As a GTPase-activating protein/GAP can inactivate CDC42 and RAC1 by stimulating their GTPase activity (PubMed:7673236). As part of the Ral signaling pathway, may also regulate ligand-dependent EGF and insulin receptors-mediated endocytosis (PubMed:10910768, PubMed:12775724). During mitosis, may act as a scaffold protein in the phosphorylation of EPSIN/EPN1 by the mitotic kinase cyclin B-CDK1, preventing endocytosis during that phase of the cell cycle (PubMed:12775724). During mitosis, also controls mitochondrial fission as an effector of RALA (PubMed:21822277). Recruited to mitochondrion by RALA, acts as a scaffold to foster the mitotic kinase cyclin B-CDK1-mediated phosphorylation and activation of DNM1L (PubMed:21822277). {ECO:0000269|PubMed:10910768, ECO:0000269|PubMed:12775724, ECO:0000269|PubMed:21822277, ECO:0000269|PubMed:7673236}.; FUNCTION: Could also function as a primary ATP-dependent active transporter for glutathione conjugates of electrophiles. May also actively catalyze the efflux of a wide range of substrates including xenobiotics like doxorubicin (DOX) contributing to cell multidrug resistance. {ECO:0000269|PubMed:10924126, ECO:0000269|PubMed:11300797, ECO:0000269|PubMed:11437348, ECO:0000269|PubMed:9548755}.
Q15464 SHB S310 ochoa SH2 domain-containing adapter protein B Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells. {ECO:0000269|PubMed:10828022, ECO:0000269|PubMed:10837138, ECO:0000269|PubMed:12084069, ECO:0000269|PubMed:12464388, ECO:0000269|PubMed:12520086, ECO:0000269|PubMed:15026417, ECO:0000269|PubMed:15919073, ECO:0000269|PubMed:8806685, ECO:0000269|PubMed:9484780, ECO:0000269|PubMed:9751119}.
Q15468 STIL S1132 ochoa SCL-interrupting locus protein (TAL-1-interrupting locus protein) Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CPAP to the base of the procentriole to initiate procentriole assembly (PubMed:22020124). In complex with STIL acts as a modulator of PLK4-driven cytoskeletal rearrangements and directional cell motility (PubMed:29712910, PubMed:32107292). {ECO:0000269|PubMed:16024801, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:29712910, ECO:0000269|PubMed:32107292, ECO:0000269|PubMed:9372240}.
Q16533 SNAPC1 S292 ochoa snRNA-activating protein complex subunit 1 (SNAPc subunit 1) (Proximal sequence element-binding transcription factor subunit gamma) (PSE-binding factor subunit gamma) (PTF subunit gamma) (Small nuclear RNA-activating complex polypeptide 1) (snRNA-activating protein complex 43 kDa subunit) (SNAPc 43 kDa subunit) Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. {ECO:0000269|PubMed:12621023}.
Q16576 RBBP7 S99 ochoa Histone-binding protein RBBP7 (Histone acetyltransferase type B subunit 2) (Nucleosome-remodeling factor subunit RBAP46) (Retinoblastoma-binding protein 7) (RBBP-7) (Retinoblastoma-binding protein p46) Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex. {ECO:0000269|PubMed:10866654, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:28977666}.
Q16637 SMN1 S31 ochoa|psp Survival motor neuron protein (Component of gems 1) (Gemin-1) 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:18984161, PubMed:9845364). 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) (PubMed:18984161). 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). Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:17178713, PubMed:21816274, PubMed:22101937). 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 (PubMed:31799625). Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131). Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs). {ECO:0000269|PubMed:17178713, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21816274, ECO:0000269|PubMed:22101937, ECO:0000269|PubMed:23063131, ECO:0000269|PubMed:26700805, ECO:0000269|PubMed:31799625, ECO:0000269|PubMed:9845364}.
Q4G163 FBXO43 S349 ochoa F-box only protein 43 (Endogenous meiotic inhibitor 2) Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (PubMed:34052850, PubMed:34595750). Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis. {ECO:0000250|UniProtKB:Q8CDI2, ECO:0000269|PubMed:34052850, ECO:0000269|PubMed:34595750}.
Q4LE39 ARID4B S1153 ochoa AT-rich interactive domain-containing protein 4B (ARID domain-containing protein 4B) (180 kDa Sin3-associated polypeptide) (Sin3-associated polypeptide p180) (Breast cancer-associated antigen BRCAA1) (Histone deacetylase complex subunit SAP180) (Retinoblastoma-binding protein 1-like 1) Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity). {ECO:0000250|UniProtKB:A2CG63, ECO:0000269|PubMed:12724404}.
Q53QZ3 ARHGAP15 S246 ochoa Rho GTPase-activating protein 15 (ArhGAP15) (Rho-type GTPase-activating protein 15) GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction. {ECO:0000269|PubMed:12650940}.
Q5JSH3 WDR44 S195 ochoa WD repeat-containing protein 44 (Rab11-binding protein) (Rab11BP) (Rabphilin-11) Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export (PubMed:31204173, PubMed:32344433). ATK1-mediated phosphorylation of WDR44 induces binding to Rab11 which activates endocytic recycling of transferrin receptor back to the plasma membrane (PubMed:31204173). When bound to Rab11, prevents the formation of the ciliogenic Rab11-Rabin8/RAB3IP-RAB11FIP3 complex, therefore inhibiting preciliary trafficking and ciliogenesis (PubMed:31204173). Participates in neo-synthesized protein export by connecting the endoplasmic reticulum (ER) with the endosomal tubule via direct interactions with the integral ER proteins VAPA or VAPB and the endosomal protein GRAFs (GRAF1/ARHGAP26 or GRAF2/ARHGAP10), which facilitates the transfer of proteins such as E-cadherin, MPP14 and CFTR into a Rab8-Rab10-Rab11-dependent export route (PubMed:32344433). {ECO:0000269|PubMed:31204173, ECO:0000269|PubMed:32344433}.
Q5M775 SPECC1 S241 ochoa Cytospin-B (Nuclear structure protein 5) (NSP5) (Sperm antigen HCMOGT-1) (Sperm antigen with calponin homology and coiled-coil domains 1) None
Q5QJE6 DNTTIP2 S191 ochoa Deoxynucleotidyltransferase terminal-interacting protein 2 (Estrogen receptor-binding protein) (LPTS-interacting protein 2) (LPTS-RP2) (Terminal deoxynucleotidyltransferase-interacting factor 2) (TdIF2) (TdT-interacting factor 2) Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein (PubMed:12786946, PubMed:15047147). 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:12786946, ECO:0000269|PubMed:15047147, ECO:0000269|PubMed:34516797}.
Q5T0W9 FAM83B S804 ochoa Protein FAM83B Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades. {ECO:0000269|PubMed:22886302, ECO:0000269|PubMed:23676467, ECO:0000269|PubMed:23912460}.
Q5T1R4 HIVEP3 S809 ochoa Transcription factor HIVEP3 (Human immunodeficiency virus type I enhancer-binding protein 3) (Kappa-B and V(D)J recombination signal sequences-binding protein) (Kappa-binding protein 1) (KBP-1) (Zinc finger protein ZAS3) Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Also binds to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-alpha-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and pro-inflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation. {ECO:0000269|PubMed:11161801}.
Q5T200 ZC3H13 S1017 ochoa Zinc finger CCCH domain-containing protein 13 Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (By similarity). {ECO:0000250|UniProtKB:E9Q784}.
Q5T3I0 GPATCH4 S253 ochoa G patch domain-containing protein 4 None
Q5VSY0 GKAP1 S27 ochoa G kinase-anchoring protein 1 (cGMP-dependent protein kinase-anchoring protein of 42 kDa) Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation. {ECO:0000250|UniProtKB:Q9JMB0}.
Q5VUA4 ZNF318 S993 ochoa Zinc finger protein 318 (Endocrine regulatory protein) [Isoform 2]: Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. {ECO:0000250|UniProtKB:Q99PP2}.; FUNCTION: [Isoform 1]: Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. {ECO:0000250|UniProtKB:Q99PP2}.
Q641Q2 WASHC2A S333 ochoa WASH complex subunit 2A Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L. {ECO:0000269|PubMed:25355947, ECO:0000269|PubMed:28892079}.
Q6AZW8 ZNF660 S23 ochoa Zinc finger protein 660 May be involved in transcriptional regulation.
Q6J4K2 SLC8B1 S271 ochoa Mitochondrial sodium/calcium exchanger protein (Na(+)/K(+)/Ca(2+)-exchange protein 6) (Sodium/calcium exchanger protein, mitochondrial) (Sodium/potassium/calcium exchanger 6) (Solute carrier family 24 member 6) (Solute carrier family 8 member B1) Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion (PubMed:15060069, PubMed:20018762, PubMed:22829870, PubMed:23056385, PubMed:24898248, PubMed:28130126, PubMed:28219928). Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leads to promote calcium-shuttling that modulates mitochondrial redox status, thereby regulating SOCE activity (PubMed:28219928). Involved in B-lymphocyte chemotaxis (By similarity). Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange (PubMed:15060069, PubMed:28130126). In contrast to other members of the family its function is independent of K(+) (PubMed:15060069). {ECO:0000250|UniProtKB:Q925Q3, ECO:0000269|PubMed:15060069, ECO:0000269|PubMed:20018762, ECO:0000269|PubMed:22829870, ECO:0000269|PubMed:23056385, ECO:0000269|PubMed:24898248, ECO:0000269|PubMed:28219928}.
Q6KC79 NIPBL S2491 ochoa Nipped-B-like protein (Delangin) (SCC2 homolog) Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}.
Q6KC79 NIPBL S2511 ochoa Nipped-B-like protein (Delangin) (SCC2 homolog) Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}.
Q6KC79 NIPBL S2513 ochoa Nipped-B-like protein (Delangin) (SCC2 homolog) Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}.
Q6PD62 CTR9 S970 ochoa RNA polymerase-associated protein CTR9 homolog (SH2 domain-binding protein 1) 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. Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3) and dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of the SET1 complex. Involved in transcriptional regulation of IL6-responsive genes and in JAK-STAT pathway; may regulate DNA-association of STAT3 (By similarity). {ECO:0000250|UniProtKB:Q62018, ECO:0000269|PubMed:16024656, ECO:0000269|PubMed:16307923, ECO:0000269|PubMed:19345177, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742, ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}.
Q6PIJ6 FBXO38 S600 ochoa F-box only protein 38 Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity). {ECO:0000250|UniProtKB:Q8BMI0, ECO:0000269|PubMed:30487606}.
Q6PKG0 LARP1 S631 ochoa La-related protein 1 (La ribonucleoprotein domain family member 1) RNA-binding protein that regulates the translation of specific target mRNA species downstream of the mTORC1 complex, in function of growth signals and nutrient availability (PubMed:20430826, PubMed:23711370, PubMed:24532714, PubMed:25940091, PubMed:28650797, PubMed:28673543, PubMed:29244122). Interacts on the one hand with the 3' poly-A tails that are present in all mRNA molecules, and on the other hand with the 7-methylguanosine cap structure of mRNAs containing a 5' terminal oligopyrimidine (5'TOP) motif, which is present in mRNAs encoding ribosomal proteins and several components of the translation machinery (PubMed:23711370, PubMed:25940091, PubMed:26206669, PubMed:28379136, PubMed:28650797, PubMed:29244122). The interaction with the 5' end of mRNAs containing a 5'TOP motif leads to translational repression by preventing the binding of EIF4G1 (PubMed:25940091, PubMed:28379136, PubMed:28650797, PubMed:29244122). When mTORC1 is activated, LARP1 is phosphorylated and dissociates from the 5' untranslated region (UTR) of mRNA (PubMed:25940091, PubMed:28650797). Does not prevent binding of EIF4G1 to mRNAs that lack a 5'TOP motif (PubMed:28379136). Interacts with the free 40S ribosome subunit and with ribosomes, both monosomes and polysomes (PubMed:20430826, PubMed:24532714, PubMed:25940091, PubMed:28673543). Under normal nutrient availability, interacts primarily with the 3' untranslated region (UTR) of mRNAs encoding ribosomal proteins and increases protein synthesis (PubMed:23711370, PubMed:28650797). Associates with actively translating ribosomes and stimulates translation of mRNAs containing a 5'TOP motif, thereby regulating protein synthesis, and as a consequence, cell growth and proliferation (PubMed:20430826, PubMed:24532714). Stabilizes mRNAs species with a 5'TOP motif, which is required to prevent apoptosis (PubMed:20430826, PubMed:23711370, PubMed:25940091, PubMed:28673543). {ECO:0000269|PubMed:20430826, ECO:0000269|PubMed:23711370, ECO:0000269|PubMed:24532714, ECO:0000269|PubMed:25940091, ECO:0000269|PubMed:26206669, ECO:0000269|PubMed:28379136, ECO:0000269|PubMed:28650797, ECO:0000269|PubMed:28673543, ECO:0000269|PubMed:29244122}.; FUNCTION: (Microbial infection) Positively regulates the replication of dengue virus (DENV). {ECO:0000269|PubMed:26735137}.
Q6UB98 ANKRD12 S19 ochoa Ankyrin repeat domain-containing protein 12 (Ankyrin repeat-containing cofactor 2) (GAC-1 protein) May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.
Q6ZU35 CRACD S820 ochoa Capping protein-inhibiting regulator of actin dynamics (Cancer-related regulator of actin dynamics) Involved in epithelial cell integrity by acting on the maintenance of the actin cytoskeleton. Positively regulates the actin polymerization, by inhibiting the interaction of actin-capping proteins with actin. {ECO:0000269|PubMed:30361697}.
Q6ZU65 UBN2 S250 ochoa Ubinuclein-2 None
Q76FK4 NOL8 S843 ochoa Nucleolar protein 8 (Nucleolar protein Nop132) Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells. {ECO:0000269|PubMed:14660641, ECO:0000269|PubMed:15132771, ECO:0000269|PubMed:16963496}.
Q76I76 SSH2 S466 ochoa Protein phosphatase Slingshot homolog 2 (EC 3.1.3.16) (EC 3.1.3.48) (SSH-like protein 2) (SSH-2L) (hSSH-2L) Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein (PubMed:11832213). Required for spermatogenesis (By similarity). Involved in acrosome biogenesis, probably by regulating cofilin-mediated actin cytoskeleton remodeling during proacrosomal vesicle fusion and/or Golgi to perinuclear vesicle trafficking (By similarity). {ECO:0000250|UniProtKB:Q5SW75, ECO:0000269|PubMed:11832213}.
Q7LBC6 KDM3B S291 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}.
Q7RTP6 MICAL3 S1797 ochoa [F-actin]-monooxygenase MICAL3 (EC 1.14.13.225) (Molecule interacting with CasL protein 3) (MICAL-3) Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required for cytokinesis. Contributes to stabilization and/or maturation of the intercellular bridge independently of its monooxygenase activity. Promotes recruitment of Rab8 and ERC1 to the intercellular bridge, and together these proteins are proposed to function in timely abscission. {ECO:0000269|PubMed:21596566, ECO:0000269|PubMed:24440334}.
Q7Z3T8 ZFYVE16 S216 ochoa Zinc finger FYVE domain-containing protein 16 (Endofin) (Endosome-associated FYVE domain protein) May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. {ECO:0000269|PubMed:11546807, ECO:0000269|PubMed:14613930}.
Q7Z4V5 HDGFL2 S144 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}.
Q7Z4V5 HDGFL2 S146 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}.
Q7Z4V5 HDGFL2 S397 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}.
Q86T82 USP37 S650 ochoa Ubiquitin carboxyl-terminal hydrolase 37 (EC 3.4.19.12) (Deubiquitinating enzyme 37) (Ubiquitin thioesterase 37) (Ubiquitin-specific-processing protease 37) Deubiquitinase that plays a role in different processes including cell cycle regulation, DNA replication or DNA damage response (PubMed:26299517, PubMed:27296872, PubMed:31911859, PubMed:34509474). Antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872). Also plays an essential role beyond S-phase entry to promote the efficiency and fidelity of replication by deubiquitinating checkpoint kinase 1/CHK1, promoting its stability (PubMed:34509474). Sustains the DNA damage response (DDR) by deubiquitinating and stabilizing the ATP-dependent DNA helicase BLM (PubMed:34606619). Mechanistically, DNA double-strand breaks (DSB) promotes ATM-mediated phosphorylation of USP37 and enhances the binding between USP37 and BLM (PubMed:34606619). Promotes cell migration by deubiquitinating and stabilizing the epithelial-mesenchymal transition (EMT)-inducing transcription factor SNAI (PubMed:31911859). Plays a role in the regulation of mitotic spindle assembly and mitotic progression by associating with chromatin-associated WAPL and stabilizing it through deubiquitination (PubMed:26299517). {ECO:0000269|PubMed:21596315, ECO:0000269|PubMed:26299517, ECO:0000269|PubMed:27296872, ECO:0000269|PubMed:31911859, ECO:0000269|PubMed:34509474, ECO:0000269|PubMed:34606619}.
Q86TV6 TTC7B S623 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}.
Q86UE4 MTDH S496 ochoa Protein LYRIC (3D3/LYRIC) (Astrocyte elevated gene-1 protein) (AEG-1) (Lysine-rich CEACAM1 co-isolated protein) (Metadherin) (Metastasis adhesion protein) Down-regulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance. {ECO:0000269|PubMed:15927426, ECO:0000269|PubMed:16452207, ECO:0000269|PubMed:18316612, ECO:0000269|PubMed:19111877}.
Q86UE8 TLK2 S46 ochoa Serine/threonine-protein kinase tousled-like 2 (EC 2.7.11.1) (HsHPK) (PKU-alpha) (Tousled-like kinase 2) Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation (PubMed:10523312, PubMed:11470414, PubMed:12660173, PubMed:12955071, PubMed:29955062, PubMed:33323470, PubMed:9427565). Phosphorylates the chromatin assembly factors ASF1A and ASF1B (PubMed:11470414, PubMed:20016786, PubMed:29955062, PubMed:35136069). Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly (PubMed:20016786). Negative regulator of amino acid starvation-induced autophagy (PubMed:22354037). {ECO:0000269|PubMed:10523312, ECO:0000269|PubMed:11470414, ECO:0000269|PubMed:12660173, ECO:0000269|PubMed:12955071, ECO:0000269|PubMed:20016786, ECO:0000269|PubMed:22354037, ECO:0000269|PubMed:29955062, ECO:0000269|PubMed:33323470, ECO:0000269|PubMed:35136069, ECO:0000269|PubMed:9427565}.
Q86YP4 GATAD2A S38 ochoa Transcriptional repressor p66-alpha (Hp66alpha) (GATA zinc finger domain-containing protein 2A) Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2B (PubMed:16415179). {ECO:0000269|PubMed:12183469, ECO:0000269|PubMed:16415179, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:28977666}.
Q8IVL0 NAV3 S1730 ochoa Neuron navigator 3 (Pore membrane and/or filament-interacting-like protein 1) (Steerin-3) (Unc-53 homolog 3) (unc53H3) Plays a role in cell migration (PubMed:21471154). May be involved in neuron regeneration. May regulate IL2 production by T-cells. {ECO:0000269|PubMed:16166283, ECO:0000269|PubMed:21471154}.
Q8IVL1 NAV2 S1856 ochoa Neuron navigator 2 (EC 3.6.4.12) (Helicase APC down-regulated 1) (Pore membrane and/or filament-interacting-like protein 2) (Retinoic acid inducible in neuroblastoma 1) (Steerin-2) (Unc-53 homolog 2) (unc53H2) Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs. {ECO:0000269|PubMed:12214280, ECO:0000269|PubMed:15158073}.
Q8IWE5 PLEKHM2 S329 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}.
Q8IWJ2 GCC2 S446 ochoa GRIP and coiled-coil domain-containing protein 2 (185 kDa Golgi coiled-coil protein) (GCC185) (CLL-associated antigen KW-11) (CTCL tumor antigen se1-1) (Ran-binding protein 2-like 4) (RanBP2L4) (Renal carcinoma antigen NY-REN-53) Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2. {ECO:0000269|PubMed:16885419, ECO:0000269|PubMed:17488291, ECO:0000269|PubMed:17543864}.
Q8IX90 SKA3 S119 ochoa Spindle and kinetochore-associated protein 3 Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:19289083, PubMed:19360002, PubMed:23085020). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083, PubMed:19360002). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). In the complex, it mediates the microtubule-stimulated oligomerization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). {ECO:0000269|PubMed:19289083, ECO:0000269|PubMed:19360002, ECO:0000269|PubMed:23085020}.
Q8IXJ6 SIRT2 S25 ochoa|psp NAD-dependent protein deacetylase sirtuin-2 (EC 2.3.1.286) (NAD-dependent protein defatty-acylase sirtuin-2) (EC 2.3.1.-) (Regulatory protein SIR2 homolog 2) (SIR2-like protein 2) NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors (PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20543840, PubMed:20587414, PubMed:21081649, PubMed:21726808, PubMed:21949390, PubMed:22014574, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24177535, PubMed:24681946, PubMed:24769394, PubMed:24940000). Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy (PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20543840, PubMed:20587414, PubMed:21081649, PubMed:21726808, PubMed:21949390, PubMed:22014574, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24177535, PubMed:24681946, PubMed:24769394, PubMed:24940000). Plays a major role in the control of cell cycle progression and genomic stability (PubMed:12697818, PubMed:16909107, PubMed:17488717, PubMed:17726514, PubMed:19282667, PubMed:23468428). Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtubule stress agents, and hence allowing proper inheritance of chromosomes (PubMed:12697818, PubMed:16909107, PubMed:17488717, PubMed:17726514, PubMed:19282667, PubMed:23468428). Positively regulates the anaphase promoting complex/cyclosome (APC/C) ubiquitin ligase complex activity by deacetylating CDC20 and FZR1, then allowing progression through mitosis (PubMed:22014574). Associates both with chromatin at transcriptional start sites (TSSs) and enhancers of active genes (PubMed:23468428). Plays a role in cell cycle and chromatin compaction through epigenetic modulation of the regulation of histone H4 'Lys-20' methylation (H4K20me1) during early mitosis (PubMed:23468428). Specifically deacetylates histone H4 at 'Lys-16' (H4K16ac) between the G2/M transition and metaphase enabling H4K20me1 deposition by KMT5A leading to ulterior levels of H4K20me2 and H4K20me3 deposition throughout cell cycle, and mitotic S-phase progression (PubMed:23468428). Deacetylates KMT5A modulating KMT5A chromatin localization during the mitotic stress response (PubMed:23468428). Also deacetylates histone H3 at 'Lys-57' (H3K56ac) during the mitotic G2/M transition (PubMed:20587414). Upon bacterium Listeria monocytogenes infection, deacetylates 'Lys-18' of histone H3 in a receptor tyrosine kinase MET- and PI3K/Akt-dependent manner, thereby inhibiting transcriptional activity and promoting late stages of listeria infection (PubMed:23908241). During oocyte meiosis progression, may deacetylate histone H4 at 'Lys-16' (H4K16ac) and alpha-tubulin, regulating spindle assembly and chromosome alignment by influencing microtubule dynamics and kinetochore function (PubMed:24940000). Deacetylates histone H4 at 'Lys-16' (H4K16ac) at the VEGFA promoter and thereby contributes to regulate expression of VEGFA, a key regulator of angiogenesis (PubMed:24940000). Deacetylates alpha-tubulin at 'Lys-40' and hence controls neuronal motility, oligodendroglial cell arbor projection processes and proliferation of non-neuronal cells (PubMed:18332217, PubMed:18995842). Phosphorylation at Ser-368 by a G1/S-specific cyclin E-CDK2 complex inactivates SIRT2-mediated alpha-tubulin deacetylation, negatively regulating cell adhesion, cell migration and neurite outgrowth during neuronal differentiation (PubMed:17488717). Deacetylates PARD3 and participates in the regulation of Schwann cell peripheral myelination formation during early postnatal development and during postinjury remyelination (PubMed:21949390). Involved in several cellular metabolic pathways (PubMed:20543840, PubMed:21726808, PubMed:24769394). Plays a role in the regulation of blood glucose homeostasis by deacetylating and stabilizing phosphoenolpyruvate carboxykinase PCK1 activity in response to low nutrient availability (PubMed:21726808). Acts as a key regulator in the pentose phosphate pathway (PPP) by deacetylating and activating the glucose-6-phosphate G6PD enzyme, and therefore, stimulates the production of cytosolic NADPH to counteract oxidative damage (PubMed:24769394). Maintains energy homeostasis in response to nutrient deprivation as well as energy expenditure by inhibiting adipogenesis and promoting lipolysis (PubMed:20543840). Attenuates adipocyte differentiation by deacetylating and promoting FOXO1 interaction to PPARG and subsequent repression of PPARG-dependent transcriptional activity (PubMed:20543840). Plays a role in the regulation of lysosome-mediated degradation of protein aggregates by autophagy in neuronal cells (PubMed:20543840). Deacetylates FOXO1 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagy (PubMed:20543840). Deacetylates a broad range of transcription factors and co-regulators regulating target gene expression. Deacetylates transcriptional factor FOXO3 stimulating the ubiquitin ligase SCF(SKP2)-mediated FOXO3 ubiquitination and degradation (By similarity). Deacetylates HIF1A and therefore promotes HIF1A degradation and inhibition of HIF1A transcriptional activity in tumor cells in response to hypoxia (PubMed:24681946). Deacetylates RELA in the cytoplasm inhibiting NF-kappaB-dependent transcription activation upon TNF-alpha stimulation (PubMed:21081649). Inhibits transcriptional activation by deacetylating p53/TP53 and EP300 (PubMed:18249187, PubMed:18995842). Also deacetylates EIF5A (PubMed:22771473). Functions as a negative regulator on oxidative stress-tolerance in response to anoxia-reoxygenation conditions (PubMed:24769394). Plays a role as tumor suppressor (PubMed:22014574). In addition to protein deacetylase activity, also has activity toward long-chain fatty acyl groups and mediates protein-lysine demyristoylation and depalmitoylation of target proteins, such as ARF6 and KRAS, thereby regulating their association with membranes (PubMed:25704306, PubMed:29239724, PubMed:32103017). {ECO:0000250|UniProtKB:Q8VDQ8, ECO:0000269|PubMed:12620231, ECO:0000269|PubMed:12697818, ECO:0000269|PubMed:16648462, ECO:0000269|PubMed:16909107, ECO:0000269|PubMed:17488717, ECO:0000269|PubMed:17574768, ECO:0000269|PubMed:17726514, ECO:0000269|PubMed:18249187, ECO:0000269|PubMed:18332217, ECO:0000269|PubMed:18640115, ECO:0000269|PubMed:18722353, ECO:0000269|PubMed:18995842, ECO:0000269|PubMed:19282667, ECO:0000269|PubMed:20543840, ECO:0000269|PubMed:20587414, ECO:0000269|PubMed:21081649, ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:21949390, ECO:0000269|PubMed:22014574, ECO:0000269|PubMed:22771473, ECO:0000269|PubMed:22819792, ECO:0000269|PubMed:23468428, ECO:0000269|PubMed:23908241, ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:24177535, ECO:0000269|PubMed:24681946, ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:24940000, ECO:0000269|PubMed:25704306, ECO:0000269|PubMed:29239724, ECO:0000269|PubMed:32103017}.; FUNCTION: [Isoform 1]: Deacetylates EP300, alpha-tubulin and histone H3 and H4. {ECO:0000269|PubMed:24177535}.; FUNCTION: [Isoform 2]: Deacetylates EP300, alpha-tubulin and histone H3 and H4. {ECO:0000269|PubMed:24177535}.; FUNCTION: [Isoform 5]: Lacks deacetylation activity, at least toward known SIRT2 targets. {ECO:0000269|PubMed:24177535}.
Q8N8R7 ARL14EP S183 ochoa ARL14 effector protein (ARF7 effector protein) Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. {ECO:0000269|PubMed:21458045}.
Q8N9T8 KRI1 S95 ochoa Protein KRI1 homolog None
Q8NFC6 BOD1L1 S484 ochoa Biorientation of chromosomes in cell division protein 1-like 1 Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705, PubMed:29937342). Does not regulate spindle orientation (PubMed:26166705). {ECO:0000269|PubMed:26166705, ECO:0000269|PubMed:29937342}.
Q8NG27 PJA1 S367 ochoa E3 ubiquitin-protein ligase Praja-1 (Praja1) (EC 2.3.2.27) (RING finger protein 70) (RING-type E3 ubiquitin transferase Praja-1) Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting. {ECO:0000250, ECO:0000269|PubMed:12036302}.
Q8NI08 NCOA7 S209 ochoa Nuclear receptor coactivator 7 (140 kDa estrogen receptor-associated protein) (Estrogen nuclear receptor coactivator 1) Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA. {ECO:0000269|PubMed:11971969}.
Q8TAQ2 SMARCC2 S286 ochoa SWI/SNF complex subunit SMARCC2 (BRG1-associated factor 170) (BAF170) (SWI/SNF complex 170 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2) Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). 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). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity). {ECO:0000250|UniProtKB:Q6PDG5, ECO:0000269|PubMed:10078207, ECO:0000269|PubMed:11018012, ECO:0000269|PubMed:12192000, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
Q8TBA6 GOLGA5 S187 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}.
Q8TDD1 DDX54 S39 ochoa ATP-dependent RNA helicase DDX54 (EC 3.6.4.13) (ATP-dependent RNA helicase DP97) (DEAD box RNA helicase 97 kDa) (DEAD box protein 54) Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors. {ECO:0000269|PubMed:12466272}.
Q8TEW0 PARD3 S156 ochoa Partitioning defective 3 homolog (PAR-3) (PARD-3) (Atypical PKC isotype-specific-interacting protein) (ASIP) (CTCL tumor antigen se2-5) (PAR3-alpha) Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:10954424, PubMed:27925688). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688). {ECO:0000250|UniProtKB:Q99NH2, ECO:0000250|UniProtKB:Q9Z340, ECO:0000269|PubMed:10934474, ECO:0000269|PubMed:10954424, ECO:0000269|PubMed:19812038, ECO:0000269|PubMed:27925688}.
Q8WVC0 LEO1 S608 ochoa RNA polymerase-associated protein LEO1 (Replicative senescence down-regulated leo1-like protein) 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. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling. {ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15791002, ECO:0000269|PubMed:19345177, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742}.
Q8WXI2 CNKSR2 S687 ochoa Connector enhancer of kinase suppressor of ras 2 (Connector enhancer of KSR 2) (CNK homolog protein 2) (CNK2) May function as an adapter protein or regulator of Ras signaling pathways. {ECO:0000269|PubMed:14597674}.
Q8WY36 BBX S481 ochoa HMG box transcription factor BBX (Bobby sox homolog) (HMG box-containing protein 2) Transcription factor that is necessary for cell cycle progression from G1 to S phase. {ECO:0000269|PubMed:11680820}.
Q8WYQ5 DGCR8 S271 ochoa|psp Microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity). Also plays a role in DNA repair by promoting the recruitment of RNF168 to RNF8 and MDC1 at DNA double-strand breaks and subsequently the clearance of DNA breaks (PubMed:34188037). {ECO:0000250|UniProtKB:Q9EQM6, ECO:0000269|PubMed:15531877, ECO:0000269|PubMed:15574589, ECO:0000269|PubMed:15589161, ECO:0000269|PubMed:16751099, ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:16963499, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:25799998, ECO:0000269|PubMed:26027739, ECO:0000269|PubMed:26748718}.
Q8WYQ5 DGCR8 S275 ochoa|psp Microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity). Also plays a role in DNA repair by promoting the recruitment of RNF168 to RNF8 and MDC1 at DNA double-strand breaks and subsequently the clearance of DNA breaks (PubMed:34188037). {ECO:0000250|UniProtKB:Q9EQM6, ECO:0000269|PubMed:15531877, ECO:0000269|PubMed:15574589, ECO:0000269|PubMed:15589161, ECO:0000269|PubMed:16751099, ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:16963499, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:25799998, ECO:0000269|PubMed:26027739, ECO:0000269|PubMed:26748718}.
Q8WYQ5 DGCR8 S368 ochoa Microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity). Also plays a role in DNA repair by promoting the recruitment of RNF168 to RNF8 and MDC1 at DNA double-strand breaks and subsequently the clearance of DNA breaks (PubMed:34188037). {ECO:0000250|UniProtKB:Q9EQM6, ECO:0000269|PubMed:15531877, ECO:0000269|PubMed:15574589, ECO:0000269|PubMed:15589161, ECO:0000269|PubMed:16751099, ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:16963499, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:25799998, ECO:0000269|PubMed:26027739, ECO:0000269|PubMed:26748718}.
Q92541 RTF1 S60 ochoa RNA polymerase-associated protein RTF1 homolog 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. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity). {ECO:0000250, ECO:0000269|PubMed:19345177, ECO:0000269|PubMed:20178742}.
Q92541 RTF1 S652 ochoa RNA polymerase-associated protein RTF1 homolog 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. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity). {ECO:0000250, ECO:0000269|PubMed:19345177, ECO:0000269|PubMed:20178742}.
Q92613 JADE3 S774 ochoa Protein Jade-3 (Jade family PHD finger protein 3) (PHD finger protein 16) Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity. {ECO:0000269|PubMed:16387653}.
Q92733 PRCC S157 ochoa Proline-rich protein PRCC (Papillary renal cell carcinoma translocation-associated gene protein) May regulate cell cycle progression through interaction with MAD2L2. {ECO:0000269|PubMed:11717438}.
Q96B01 RAD51AP1 S19 ochoa RAD51-associated protein 1 (HsRAD51AP1) (RAD51-interacting protein) Structure-specific DNA-binding protein involved in DNA repair by promoting RAD51-mediated homologous recombination (PubMed:17996710, PubMed:17996711, PubMed:20871616, PubMed:25288561, PubMed:26323318). Acts by stimulating D-Loop formation by RAD51: specifically enhances joint molecule formation through its structure-specific DNA interaction and its interaction with RAD51 (PubMed:17996710, PubMed:17996711). Binds single-stranded DNA (ssDNA), double-stranded DNA (dsDNA) and secondary DNA structures, such as D-loop structures: has a strong preference for branched-DNA structures that are obligatory intermediates during joint molecule formation (PubMed:17996710, PubMed:17996711, PubMed:22375013, PubMed:9396801). Cooperates with WDR48/UAF1 to stimulate RAD51-mediated homologous recombination: both WDR48/UAF1 and RAD51AP1 have coordinated role in DNA-binding during homologous recombination and DNA repair (PubMed:27239033, PubMed:27463890, PubMed:32350107). WDR48/UAF1 and RAD51AP1 also have a coordinated role in DNA-binding to promote USP1-mediated deubiquitination of FANCD2 (PubMed:31253762). Also involved in meiosis by promoting DMC1-mediated homologous meiotic recombination (PubMed:21307306). Key mediator of alternative lengthening of telomeres (ALT) pathway, a homology-directed repair mechanism of telomere elongation that controls proliferation in aggressive cancers, by stimulating homologous recombination (PubMed:31400850). May also bind RNA; additional evidences are however required to confirm RNA-binding in vivo (PubMed:9396801). {ECO:0000269|PubMed:17996710, ECO:0000269|PubMed:17996711, ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:21307306, ECO:0000269|PubMed:22375013, ECO:0000269|PubMed:25288561, ECO:0000269|PubMed:26323318, ECO:0000269|PubMed:27239033, ECO:0000269|PubMed:27463890, ECO:0000269|PubMed:31253762, ECO:0000269|PubMed:31400850, ECO:0000269|PubMed:32350107, ECO:0000269|PubMed:9396801}.
Q96CV9 OPTN S528 ochoa Optineurin (E3-14.7K-interacting protein) (FIP-2) (Huntingtin yeast partner L) (Huntingtin-interacting protein 7) (HIP-7) (Huntingtin-interacting protein L) (NEMO-related protein) (Optic neuropathy-inducing protein) (Transcription factor IIIA-interacting protein) (TFIIIA-IntP) Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta/IFNB1. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and huntingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as that of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment (PubMed:22854040). Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52. {ECO:0000269|PubMed:11834836, ECO:0000269|PubMed:15837803, ECO:0000269|PubMed:20085643, ECO:0000269|PubMed:20174559, ECO:0000269|PubMed:21617041, ECO:0000269|PubMed:22854040, ECO:0000269|PubMed:27534431, ECO:0000269|PubMed:27538435}.; FUNCTION: (Microbial infection) May constitute a cellular target for various viruses, such as adenovirus E3 14.7 or Bluetongue virus, to inhibit innate immune response (PubMed:27538435, PubMed:9488477). During RNA virus infection, such as that of Sendai virus, negatively regulates the induction of IFNB1 (PubMed:20174559). {ECO:0000269|PubMed:20174559, ECO:0000269|PubMed:27538435, ECO:0000269|PubMed:9488477}.
Q96JM3 CHAMP1 S653 ochoa Chromosome alignment-maintaining phosphoprotein 1 (Zinc finger protein 828) Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore. {ECO:0000269|PubMed:21063390}.
Q96JS3 PGBD1 S363 ochoa PiggyBac transposable element-derived protein 1 (Cerebral protein 4) None
Q96QE3 ATAD5 S356 ochoa ATPase family AAA domain-containing protein 5 (Chromosome fragility-associated gene 1 protein) Has an important role in DNA replication and in maintaining genome integrity during replication stress (PubMed:15983387, PubMed:19755857). Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis (PubMed:15983387). Modulates the RAD9A interaction with BCL2 and thereby induces DNA damage-induced apoptosis (PubMed:15983387). Promotes PCNA deubiquitination by recruiting the ubiquitin-specific protease 1 (USP1) and WDR48 thereby down-regulating the error-prone damage bypass pathway (PubMed:20147293). As component of the ATAD5 RFC-like complex, regulates the function of the DNA polymerase processivity factor PCNA by unloading the ring-shaped PCNA homotrimer from DNA after replication during the S phase of the cell cycle (PubMed:23277426, PubMed:23937667). This seems to be dependent on its ATPase activity (PubMed:23277426). Plays important roles in restarting stalled replication forks under replication stress, by unloading the PCNA homotrimer from DNA and recruiting RAD51 possibly through an ATR-dependent manner (PubMed:31844045). Ultimately this enables replication fork regression, breakage, and eventual fork restart (PubMed:31844045). Both the PCNA unloading activity and the interaction with WDR48 are required to efficiently recruit RAD51 to stalled replication forks (PubMed:31844045). Promotes the generation of MUS81-mediated single-stranded DNA-associated breaks in response to replication stress, which is an alternative pathway to restart stalled/regressed replication forks (PubMed:31844045). {ECO:0000269|PubMed:15983387, ECO:0000269|PubMed:19755857, ECO:0000269|PubMed:20147293, ECO:0000269|PubMed:23277426, ECO:0000269|PubMed:23937667, ECO:0000269|PubMed:31844045}.
Q96SN8 CDK5RAP2 S548 ochoa CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215) Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter (PubMed:19282672). Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends (PubMed:18042621, PubMed:17959831, PubMed:19553473). Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gTuRC) onto centrosomes (PubMed:18042621, PubMed:17959831, PubMed:26485573, PubMed:39321809). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity). {ECO:0000250|UniProtKB:Q8K389, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:17959831, ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:19282672, ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:39321809}.
Q96ST2 IWS1 S420 ochoa Protein IWS1 homolog (IWS1-like protein) Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. {ECO:0000269|PubMed:17184735, ECO:0000269|PubMed:17234882, ECO:0000269|PubMed:19141475}.
Q96ST2 IWS1 S422 ochoa Protein IWS1 homolog (IWS1-like protein) Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. {ECO:0000269|PubMed:17184735, ECO:0000269|PubMed:17234882, ECO:0000269|PubMed:19141475}.
Q96ST2 IWS1 S438 ochoa Protein IWS1 homolog (IWS1-like protein) Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. {ECO:0000269|PubMed:17184735, ECO:0000269|PubMed:17234882, ECO:0000269|PubMed:19141475}.
Q96T58 SPEN S1380 ochoa Msx2-interacting protein (SMART/HDAC1-associated repressor protein) (SPEN homolog) May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA. {ECO:0000250|UniProtKB:Q62504, ECO:0000269|PubMed:11331609, ECO:0000269|PubMed:12374742}.
Q99460 PSMD1 S294 ochoa 26S proteasome non-ATPase regulatory subunit 1 (26S proteasome regulatory subunit RPN2) (26S proteasome regulatory subunit S1) (26S proteasome subunit p112) Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. {ECO:0000269|PubMed:1317798}.
Q99567 NUP88 S655 ochoa Nuclear pore complex protein Nup88 (88 kDa nucleoporin) (Nucleoporin Nup88) Component of nuclear pore complex. {ECO:0000269|PubMed:30543681}.
Q99959 PKP2 S227 ochoa Plakophilin-2 A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Important component of the desmosome that is also required for localization of desmosome component proteins such as DSC2, DSG2 and JUP to the desmosome cell-cell junction (PubMed:22781308, PubMed:25208567). Required for the formation of desmosome cell junctions in cardiomyocytes, thereby required for the correct formation of the heart, specifically trabeculation and formation of the atria walls (By similarity). Loss of desmosome cell junctions leads to mis-localization of DSP and DSG2 resulting in disruption of cell-cell adhesion and disordered intermediate filaments (By similarity). Modulates profibrotic gene expression in cardiomyocytes via regulation of DSP expression and subsequent activation of downstream TGFB1 and MAPK14/p38 MAPK signaling (By similarity). Required for cardiac sodium current propagation and electrical synchrony in cardiac myocytes, via ANK3 stabilization and modulation of SCN5A/Nav1.5 localization to cell-cell junctions (By similarity). Required for mitochondrial function, nuclear envelope integrity and positive regulation of SIRT3 transcription via maintaining DES localization at its nuclear envelope and cell tip anchoring points, and thereby preserving regulation of the transcriptional program (PubMed:35959657). Maintenance of nuclear envelope integrity protects against DNA damage and transcriptional dysregulation of genes, especially those involved in the electron transport chain, thereby preserving mitochondrial function and protecting against superoxide radical anion generation (PubMed:35959657). Binds single-stranded DNA (ssDNA) (PubMed:20613778). May regulate the localization of GJA1 to gap junctions in intercalated disks of the heart (PubMed:18662195). Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297). Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins (PubMed:28169297). {ECO:0000250|UniProtKB:F1M7L9, ECO:0000250|UniProtKB:Q9CQ73, ECO:0000269|PubMed:18662195, ECO:0000269|PubMed:20613778, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:23884246, ECO:0000269|PubMed:25208567, ECO:0000269|PubMed:28169297, ECO:0000269|PubMed:34368962, ECO:0000269|PubMed:35959657}.
Q9BTC0 DIDO1 S152 ochoa Death-inducer obliterator 1 (DIO-1) (hDido1) (Death-associated transcription factor 1) (DATF-1) Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development. {ECO:0000250, ECO:0000269|PubMed:16127461}.; FUNCTION: [Isoform 2]: Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes. {ECO:0000269|PubMed:16127461}.
Q9BTC0 DIDO1 S154 ochoa Death-inducer obliterator 1 (DIO-1) (hDido1) (Death-associated transcription factor 1) (DATF-1) Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development. {ECO:0000250, ECO:0000269|PubMed:16127461}.; FUNCTION: [Isoform 2]: Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes. {ECO:0000269|PubMed:16127461}.
Q9BW71 HIRIP3 S289 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}.
Q9BW85 YJU2 S211 ochoa Splicing factor YJU2 (Coiled-coil domain-containing protein 94) Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA (PubMed:29301961). Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'-intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453). {ECO:0000255|HAMAP-Rule:MF_03226, ECO:0000269|PubMed:22952453, ECO:0000269|PubMed:29301961}.
Q9BX66 SORBS1 S374 ochoa Sorbin and SH3 domain-containing protein 1 (Ponsin) (SH3 domain protein 5) (SH3P12) (c-Cbl-associated protein) (CAP) Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity). {ECO:0000250|UniProtKB:Q62417}.
Q9BYW2 SETD2 S1413 ochoa Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}.
Q9BYW2 SETD2 S1417 ochoa Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}.
Q9H098 FAM107B S78 ochoa Protein FAM107B None
Q9H2G2 SLK S546 ochoa STE20-like serine/threonine-protein kinase (STE20-like kinase) (hSLK) (EC 2.7.11.1) (CTCL tumor antigen se20-9) (STE20-related serine/threonine-protein kinase) (STE20-related kinase) (Serine/threonine-protein kinase 2) Mediates apoptosis and actin stress fiber dissolution. {ECO:0000250}.
Q9H2P0 ADNP S876 ochoa Activity-dependent neuroprotector homeobox protein (Activity-dependent neuroprotective protein) May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity). {ECO:0000250|UniProtKB:Q9Z103}.
Q9HAW4 CLSPN S65 ochoa Claspin (hClaspin) Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation (PubMed:12766152, PubMed:15190204, PubMed:15707391, PubMed:16123041). Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins (PubMed:12766152, PubMed:15096610, PubMed:15707391, PubMed:16123041). Also required to maintain normal rates of replication fork progression during unperturbed DNA replication. Binds directly to DNA, with particular affinity for branched or forked molecules and interacts with multiple protein components of the replisome such as the MCM2-7 complex and TIMELESS (PubMed:15226314, PubMed:34694004, PubMed:35585232). Important for initiation of DNA replication, recruits kinase CDC7 to phosphorylate MCM2-7 components (PubMed:27401717). {ECO:0000269|PubMed:12766152, ECO:0000269|PubMed:15096610, ECO:0000269|PubMed:15190204, ECO:0000269|PubMed:15226314, ECO:0000269|PubMed:15707391, ECO:0000269|PubMed:16123041, ECO:0000269|PubMed:27401717, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:35585232}.
Q9HCM3 KIAA1549 S1414 ochoa UPF0606 protein KIAA1549 May play a role in photoreceptor function. {ECO:0000269|PubMed:30120214}.
Q9NP98 MYOZ1 S80 ochoa Myozenin-1 (Calsarcin-2) (Filamin-, actinin- and telethonin-binding protein) (Protein FATZ) Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.
Q9NPG3 UBN1 S135 ochoa Ubinuclein-1 (HIRA-binding protein) (Protein VT4) (Ubiquitously expressed nuclear protein) Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication-independent chromatin assembly. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:19029251}.
Q9NQB0 TCF7L2 S60 ochoa Transcription factor 7-like 2 (HMG box transcription factor 4) (T-cell-specific transcription factor 4) (T-cell factor 4) (TCF-4) (hTCF-4) Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine. {ECO:0000269|PubMed:12408868, ECO:0000269|PubMed:12727872, ECO:0000269|PubMed:19443654, ECO:0000269|PubMed:22699938, ECO:0000269|PubMed:9727977}.
Q9NRY4 ARHGAP35 S591 ochoa Rho GTPase-activating protein 35 (Glucocorticoid receptor DNA-binding factor 1) (Glucocorticoid receptor repression factor 1) (GRF-1) (Rho GAP p190A) (p190-A) Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621). {ECO:0000250|UniProtKB:P81128, ECO:0000250|UniProtKB:Q91YM2, ECO:0000269|PubMed:1894621, ECO:0000269|PubMed:19673492, ECO:0000269|PubMed:28894085}.
Q9NRY4 ARHGAP35 S1134 ochoa Rho GTPase-activating protein 35 (Glucocorticoid receptor DNA-binding factor 1) (Glucocorticoid receptor repression factor 1) (GRF-1) (Rho GAP p190A) (p190-A) Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621). {ECO:0000250|UniProtKB:P81128, ECO:0000250|UniProtKB:Q91YM2, ECO:0000269|PubMed:1894621, ECO:0000269|PubMed:19673492, ECO:0000269|PubMed:28894085}.
Q9NS56 TOPORS S912 ochoa E3 ubiquitin-protein ligase Topors (EC 2.3.2.27) (RING-type E3 ubiquitin transferase Topors) (SUMO1-protein E3 ligase Topors) (Topoisomerase I-binding RING finger protein) (Topoisomerase I-binding arginine/serine-rich protein) (Tumor suppressor p53-binding protein 3) (p53-binding protein 3) (p53BP3) Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation. {ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15735665, ECO:0000269|PubMed:16122737, ECO:0000269|PubMed:17803295, ECO:0000269|PubMed:18077445, ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:20188669}.
Q9NSI6 BRWD1 S1605 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NSI6 BRWD1 S1607 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NSI6 BRWD1 S1905 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NSI6 BRWD1 S1907 ochoa Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9) May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
Q9NSY1 BMP2K S1039 ochoa BMP-2-inducible protein kinase (BIKe) (EC 2.7.11.1) May be involved in osteoblast differentiation. {ECO:0000250|UniProtKB:Q91Z96}.
Q9NVR2 INTS10 S382 ochoa Integrator complex subunit 10 (Int10) Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:32647223). Within the integrator complex, INTS10 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267). {ECO:0000269|PubMed:16239144, ECO:0000269|PubMed:23904267, ECO:0000269|PubMed:32647223, ECO:0000269|PubMed:38570683, ECO:0000269|PubMed:38823386}.
Q9NW75 GPATCH2 S115 ochoa G patch domain-containing protein 2 Enhances the ATPase activity of DHX15 in vitro. {ECO:0000269|PubMed:19432882}.
Q9P2R6 RERE S656 ochoa Arginine-glutamic acid dipeptide repeats protein (Atrophin-1-like protein) (Atrophin-1-related protein) Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death. {ECO:0000269|PubMed:11331249}.
Q9UBY0 SLC9A2 S694 ochoa Sodium/hydrogen exchanger 2 (Na(+)/H(+) exchanger 2) (NHE-2) (Solute carrier family 9 member 2) Plasma membrane Na(+)/H(+) antiporter. Mediates the electroneutral exchange of intracellular H(+) ions for extracellular Na(+) (PubMed:10444453). Major apical Na(+)/H(+) exchanger in the base of the colonic crypt. Controls in the colonic crypt intracellular pH (pHi) to direct colonic epithelial cell differentiation into the absorptive enterocyte lineage at the expense of the secretory lineage (By similarity). {ECO:0000250|UniProtKB:Q3ZAS0, ECO:0000269|PubMed:10444453}.
Q9UHK0 NUFIP1 S338 ochoa FMR1-interacting protein NUFIP1 (Nuclear FMR1-interacting protein 1) (Nuclear FMRP-interacting protein 1) Binds RNA. {ECO:0000269|PubMed:10556305}.
Q9UIK4 DAPK2 S349 ochoa Death-associated protein kinase 2 (DAP kinase 2) (EC 2.7.11.1) (DAP-kinase-related protein 1) (DRP-1) Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421). {ECO:0000269|PubMed:17347302, ECO:0000269|PubMed:24163421, ECO:0000269|PubMed:26047703}.; FUNCTION: Isoform 2 is not regulated by calmodulin. It can phosphorylate MYL9. It can induce membrane blebbing and autophagic cell death.
Q9UK61 TASOR S699 ochoa Protein TASOR (CTCL tumor antigen se89-1) (Retinoblastoma-associated protein RAP140) (Transgene activation suppressor protein) Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression (PubMed:26022416, PubMed:28581500). 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). 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). Plays a crucial role in early embryonic development (By similarity). Involved in the organization of spindle poles and spindle apparatus assembly during zygotic division (By similarity). Plays an important role in maintaining epiblast fitness or potency (By similarity). {ECO:0000250|UniProtKB:Q69ZR9, ECO:0000269|PubMed:26022416, ECO:0000269|PubMed:28581500, ECO:0000269|PubMed:29211708, ECO:0000269|PubMed:30487602}.
Q9UKI8 TLK1 S105 ochoa Serine/threonine-protein kinase tousled-like 1 (EC 2.7.11.1) (PKU-beta) (Tousled-like kinase 1) Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'. {ECO:0000269|PubMed:10523312, ECO:0000269|PubMed:10588641, ECO:0000269|PubMed:11314006, ECO:0000269|PubMed:11470414, ECO:0000269|PubMed:12660173, ECO:0000269|PubMed:9427565}.
Q9UN37 VPS4A S95 ochoa Vacuolar protein sorting-associated protein 4A (EC 3.6.4.6) (Protein SKD2) (VPS4-1) (hVPS4) Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. It is required for proper accomplishment of various processes including the regulation of endosome size, primary cilium organization, mitotic spindle organization, chromosome segregation, and nuclear envelope sealing and spindle disassembly during anaphase (PubMed:33186545). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Critical for normal erythroblast cytokinesis and correct erythropoiesis (PubMed:33186543). {ECO:0000269|PubMed:11563910, ECO:0000269|PubMed:15075231, ECO:0000269|PubMed:22660413, ECO:0000269|PubMed:24814515, ECO:0000269|PubMed:33186543, ECO:0000269|PubMed:33186545}.; FUNCTION: (Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). {ECO:0000269|PubMed:11595185}.
Q9UN37 VPS4A S97 ochoa Vacuolar protein sorting-associated protein 4A (EC 3.6.4.6) (Protein SKD2) (VPS4-1) (hVPS4) Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. It is required for proper accomplishment of various processes including the regulation of endosome size, primary cilium organization, mitotic spindle organization, chromosome segregation, and nuclear envelope sealing and spindle disassembly during anaphase (PubMed:33186545). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Critical for normal erythroblast cytokinesis and correct erythropoiesis (PubMed:33186543). {ECO:0000269|PubMed:11563910, ECO:0000269|PubMed:15075231, ECO:0000269|PubMed:22660413, ECO:0000269|PubMed:24814515, ECO:0000269|PubMed:33186543, ECO:0000269|PubMed:33186545}.; FUNCTION: (Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). {ECO:0000269|PubMed:11595185}.
Q9UNL4 ING4 S150 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}.
Q9UQ35 SRRM2 S142 ochoa Serine/arginine repetitive matrix protein 2 (300 kDa nuclear matrix antigen) (Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa) (SR-related nuclear matrix protein of 300 kDa) (Ser/Arg-related nuclear matrix protein of 300 kDa) (Splicing coactivator subunit SRm300) (Tax-responsive enhancer element-binding protein 803) (TaxREB803) Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:19854871, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30705154, ECO:0000269|PubMed:9531537, ECO:0000305|PubMed:33509932}.
Q9Y250 LZTS1 S233 ochoa Leucine zipper putative tumor suppressor 1 (F37/esophageal cancer-related gene-coding leucine-zipper motif) (Fez1) Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor. {ECO:0000269|PubMed:10097140, ECO:0000269|PubMed:11464283, ECO:0000269|PubMed:11504921}.
Q9Y2D8 SSX2IP S312 ochoa Afadin- and alpha-actinin-binding protein (ADIP) (Afadin DIL domain-interacting protein) (SSX2-interacting protein) Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449). {ECO:0000250|UniProtKB:Q8VC66, ECO:0000269|PubMed:23816619, ECO:0000269|PubMed:24356449, ECO:0000305|PubMed:26545777}.
Q9Y4B5 MTCL1 S776 ochoa Microtubule cross-linking factor 1 (Coiled-coil domain-containing protein 165) (PAR-1-interacting protein) (SOGA family member 2) Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation (PubMed:23902687). Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells (PubMed:23902687). Required for faithful chromosome segregation during mitosis (PubMed:33587225). {ECO:0000269|PubMed:23902687, ECO:0000269|PubMed:33587225}.
Q9Y6R1 SLC4A4 S68 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}.
Q9Y6X9 MORC2 S779 ochoa ATPase MORC2 (EC 3.6.1.-) (MORC family CW-type zinc finger protein 2) (Zinc finger CW-type coiled-coil domain protein 1) Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:29440755, PubMed:32693025). Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, 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). During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA (PubMed:23260667). Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9 (PubMed:20110259, PubMed:20225202). Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). {ECO:0000269|PubMed:20110259, ECO:0000269|PubMed:20225202, ECO:0000269|PubMed:23260667, ECO:0000269|PubMed:24286864, ECO:0000269|PubMed:28581500, ECO:0000269|PubMed:29211708, ECO:0000269|PubMed:29440755, ECO:0000269|PubMed:32693025}.
O75391 SPAG7 S57 Sugiyama Sperm-associated antigen 7 None
Q13765 NACA S117 Sugiyama Nascent polypeptide-associated complex subunit alpha (NAC-alpha) (Alpha-NAC) (allergen Hom s 2) Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters. {ECO:0000269|PubMed:10982809, ECO:0000269|PubMed:15784678, ECO:0000269|PubMed:9877153}.
O00512 BCL9 S120 Sugiyama B-cell CLL/lymphoma 9 protein (B-cell lymphoma 9 protein) (Bcl-9) (Protein legless homolog) Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:11955446}.
Q9BTD8 RBM42 S433 Sugiyama RNA-binding protein 42 (RNA-binding motif protein 42) Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA. {ECO:0000250}.
O94763 URI1 S188 Sugiyama Unconventional prefoldin RPB5 interactor 1 (Protein NNX3) (Protein phosphatase 1 regulatory subunit 19) (RNA polymerase II subunit 5-mediating protein) (RPB5-mediating protein) Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.; FUNCTION: Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination.
Q86TC9 MYPN S200 Sugiyama Myopalladin (145 kDa sarcomeric protein) Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines. {ECO:0000269|PubMed:11309420}.
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reactome_id name p -log10_p
R-HSA-1640170 Cell Cycle 0.000002 5.770
R-HSA-112382 Formation of RNA Pol II elongation complex 0.000013 4.901
R-HSA-9842860 Regulation of endogenous retroelements 0.000015 4.819
R-HSA-75955 RNA Polymerase II Transcription Elongation 0.000014 4.855
R-HSA-212165 Epigenetic regulation of gene expression 0.000008 5.096
R-HSA-4839726 Chromatin organization 0.000009 5.044
R-HSA-3247509 Chromatin modifying enzymes 0.000005 5.322
R-HSA-6804758 Regulation of TP53 Activity through Acetylation 0.000011 4.941
R-HSA-69278 Cell Cycle, Mitotic 0.000017 4.761
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression 0.000032 4.491
R-HSA-73762 RNA Polymerase I Transcription Initiation 0.000045 4.343
R-HSA-5250913 Positive epigenetic regulation of rRNA expression 0.000071 4.151
R-HSA-674695 RNA Polymerase II Pre-transcription Events 0.000089 4.051
R-HSA-73854 RNA Polymerase I Promoter Clearance 0.000103 3.987
R-HSA-73864 RNA Polymerase I Transcription 0.000119 3.924
R-HSA-3214815 HDACs deacetylate histones 0.000159 3.799
R-HSA-9845323 Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) 0.000239 3.622
R-HSA-453279 Mitotic G1 phase and G1/S transition 0.000252 3.599
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex 0.000254 3.595
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex 0.000301 3.522
R-HSA-9843743 Transcriptional regulation of brown and beige adipocyte differentiation 0.000343 3.465
R-HSA-9844594 Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 0.000343 3.465
R-HSA-3214841 PKMTs methylate histone lysines 0.000377 3.423
R-HSA-9843940 Regulation of endogenous retroelements by KRAB-ZFP proteins 0.000491 3.309
R-HSA-1538133 G0 and Early G1 0.001415 2.849
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex 0.001548 2.810
R-HSA-8943724 Regulation of PTEN gene transcription 0.001762 2.754
R-HSA-9764725 Negative Regulation of CDH1 Gene Transcription 0.001762 2.754
R-HSA-69206 G1/S Transition 0.002058 2.687
R-HSA-69205 G1/S-Specific Transcription 0.002210 2.656
R-HSA-5633007 Regulation of TP53 Activity 0.001951 2.710
R-HSA-193670 p75NTR negatively regulates cell cycle via SC1 0.002656 2.576
R-HSA-74160 Gene expression (Transcription) 0.002849 2.545
R-HSA-9764560 Regulation of CDH1 Gene Transcription 0.003168 2.499
R-HSA-6807070 PTEN Regulation 0.003722 2.429
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions 0.004646 2.333
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter 0.005426 2.266
R-HSA-5250941 Negative epigenetic regulation of rRNA expression 0.005244 2.280
R-HSA-73886 Chromosome Maintenance 0.007391 2.131
R-HSA-76046 RNA Polymerase III Transcription Initiation 0.010726 1.970
R-HSA-9843745 Adipogenesis 0.010916 1.962
R-HSA-69091 Polymerase switching 0.017411 1.759
R-HSA-69109 Leading Strand Synthesis 0.017411 1.759
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation 0.017162 1.765
R-HSA-180910 Vpr-mediated nuclear import of PICs 0.018223 1.739
R-HSA-72163 mRNA Splicing - Major Pathway 0.018355 1.736
R-HSA-9843970 Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex 0.015147 1.820
R-HSA-69190 DNA strand elongation 0.012389 1.907
R-HSA-74158 RNA Polymerase III Transcription 0.017162 1.765
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA 0.013528 1.869
R-HSA-4641265 Repression of WNT target genes 0.017411 1.759
R-HSA-9832991 Formation of the posterior neural plate 0.013549 1.868
R-HSA-427413 NoRC negatively regulates rRNA expression 0.017852 1.748
R-HSA-5685942 HDR through Homologous Recombination (HRR) 0.015063 1.822
R-HSA-69242 S Phase 0.018701 1.728
R-HSA-9909649 Regulation of PD-L1(CD274) transcription 0.014412 1.841
R-HSA-9772755 Formation of WDR5-containing histone-modifying complexes 0.016137 1.792
R-HSA-201681 TCF dependent signaling in response to WNT 0.014168 1.849
R-HSA-196757 Metabolism of folate and pterines 0.018223 1.739
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF) 0.019497 1.710
R-HSA-9679191 Potential therapeutics for SARS 0.019696 1.706
R-HSA-8953750 Transcriptional Regulation by E2F6 0.020452 1.689
R-HSA-72172 mRNA Splicing 0.023345 1.632
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) 0.021708 1.663
R-HSA-176033 Interactions of Vpr with host cellular proteins 0.021620 1.665
R-HSA-9823739 Formation of the anterior neural plate 0.023964 1.620
R-HSA-9701898 STAT3 nuclear events downstream of ALK signaling 0.023964 1.620
R-HSA-9670621 Defective Inhibition of DNA Recombination at Telomere 0.024657 1.608
R-HSA-9006821 Alternative Lengthening of Telomeres (ALT) 0.024657 1.608
R-HSA-9673013 Diseases of Telomere Maintenance 0.024657 1.608
R-HSA-5632968 Defective Mismatch Repair Associated With MSH6 0.024657 1.608
R-HSA-9670613 Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations 0.024657 1.608
R-HSA-9670615 Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations 0.024657 1.608
R-HSA-1362300 Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL... 0.026339 1.579
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere 0.029383 1.532
R-HSA-774815 Nucleosome assembly 0.029383 1.532
R-HSA-5693538 Homology Directed Repair 0.025833 1.588
R-HSA-9675135 Diseases of DNA repair 0.030801 1.511
R-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) 0.031360 1.504
R-HSA-163282 Mitochondrial transcription initiation 0.036757 1.435
R-HSA-5619054 Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalit... 0.036757 1.435
R-HSA-5339700 Signaling by TCF7L2 mutants 0.036757 1.435
R-HSA-5651801 PCNA-Dependent Long Patch Base Excision Repair 0.034001 1.469
R-HSA-9709603 Impaired BRCA2 binding to PALB2 0.036725 1.435
R-HSA-5632928 Defective Mismatch Repair Associated With MSH2 0.036757 1.435
R-HSA-5358508 Mismatch Repair 0.034001 1.469
R-HSA-156711 Polo-like kinase mediated events 0.034001 1.469
R-HSA-69481 G2/M Checkpoints 0.033761 1.472
R-HSA-446728 Cell junction organization 0.034722 1.459
R-HSA-9764265 Regulation of CDH1 Expression and Function 0.034533 1.462
R-HSA-9764274 Regulation of Expression and Function of Type I Classical Cadherins 0.034533 1.462
R-HSA-9701193 Defective homologous recombination repair (HRR) due to PALB2 loss of function 0.039530 1.403
R-HSA-9704331 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.039530 1.403
R-HSA-9701192 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 0.039530 1.403
R-HSA-9704646 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 0.039530 1.403
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins 0.040053 1.397
R-HSA-69186 Lagging Strand Synthesis 0.042414 1.372
R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER 0.045374 1.343
R-HSA-194441 Metabolism of non-coding RNA 0.052416 1.281
R-HSA-191859 snRNP Assembly 0.052416 1.281
R-HSA-75944 Transcription from mitochondrial promoters 0.048709 1.312
R-HSA-350054 Notch-HLH transcription pathway 0.048408 1.315
R-HSA-2980766 Nuclear Envelope Breakdown 0.048715 1.312
R-HSA-2995383 Initiation of Nuclear Envelope (NE) Reformation 0.045374 1.343
R-HSA-9825892 Regulation of MITF-M-dependent genes involved in cell cycle and proliferation 0.045374 1.343
R-HSA-9759476 Regulation of Homotypic Cell-Cell Adhesion 0.054195 1.266
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex 0.054689 1.262
R-HSA-421270 Cell-cell junction organization 0.055053 1.259
R-HSA-165181 Inhibition of TSC complex formation by PKB 0.072170 1.142
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SD... 0.057931 1.237
R-HSA-5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC... 0.075078 1.124
R-HSA-1855196 IP3 and IP4 transport between cytosol and nucleus 0.078680 1.104
R-HSA-1855229 IP6 and IP7 transport between cytosol and nucleus 0.078680 1.104
R-HSA-1855170 IPs transport between nucleus and cytosol 0.086042 1.065
R-HSA-159227 Transport of the SLBP independent Mature mRNA 0.086042 1.065
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA 0.089798 1.047
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript 0.081881 1.087
R-HSA-5656169 Termination of translesion DNA synthesis 0.071531 1.146
R-HSA-166665 Terminal pathway of complement 0.095056 1.022
R-HSA-191650 Regulation of gap junction activity 0.072170 1.142
R-HSA-5693532 DNA Double-Strand Break Repair 0.064578 1.190
R-HSA-165158 Activation of AKT2 0.083684 1.077
R-HSA-174411 Polymerase switching on the C-strand of the telomere 0.057931 1.237
R-HSA-5696400 Dual Incision in GG-NER 0.093602 1.029
R-HSA-5693537 Resolution of D-Loop Structures 0.089798 1.047
R-HSA-69239 Synthesis of DNA 0.063125 1.200
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates 0.086042 1.065
R-HSA-9675136 Diseases of DNA Double-Strand Break Repair 0.093602 1.029
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence 0.058213 1.235
R-HSA-9022538 Loss of MECP2 binding ability to 5mC-DNA 0.060512 1.218
R-HSA-9705677 SARS-CoV-2 targets PDZ proteins in cell-cell junction 0.072170 1.142
R-HSA-211163 AKT-mediated inactivation of FOXO1A 0.072170 1.142
R-HSA-109703 PKB-mediated events 0.095056 1.022
R-HSA-165160 PDE3B signalling 0.095056 1.022
R-HSA-9701190 Defective homologous recombination repair (HRR) due to BRCA2 loss of function 0.093602 1.029
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein 0.089798 1.047
R-HSA-5423599 Diseases of Mismatch Repair (MMR) 0.060512 1.218
R-HSA-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathway 0.061239 1.213
R-HSA-180746 Nuclear import of Rev protein 0.093602 1.029
R-HSA-195253 Degradation of beta-catenin by the destruction complex 0.075064 1.125
R-HSA-162587 HIV Life Cycle 0.069757 1.156
R-HSA-162906 HIV Infection 0.090947 1.041
R-HSA-176187 Activation of ATR in response to replication stress 0.086042 1.065
R-HSA-8878171 Transcriptional regulation by RUNX1 0.089633 1.048
R-HSA-68882 Mitotic Anaphase 0.077076 1.113
R-HSA-2555396 Mitotic Metaphase and Anaphase 0.078284 1.106
R-HSA-68886 M Phase 0.067592 1.170
R-HSA-69620 Cell Cycle Checkpoints 0.061342 1.212
R-HSA-1266695 Interleukin-7 signaling 0.057931 1.237
R-HSA-9909648 Regulation of PD-L1(CD274) expression 0.092685 1.033
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry 0.079580 1.099
R-HSA-9022699 MECP2 regulates neuronal receptors and channels 0.061239 1.213
R-HSA-69202 Cyclin E associated events during G1/S transition 0.075064 1.125
R-HSA-73857 RNA Polymerase II Transcription 0.085389 1.069
R-HSA-9705683 SARS-CoV-2-host interactions 0.092271 1.035
R-HSA-1500931 Cell-Cell communication 0.061514 1.211
R-HSA-418990 Adherens junctions interactions 0.079502 1.100
R-HSA-9022692 Regulation of MECP2 expression and activity 0.086042 1.065
R-HSA-8852135 Protein ubiquitination 0.086569 1.063
R-HSA-111465 Apoptotic cleavage of cellular proteins 0.082336 1.084
R-HSA-109581 Apoptosis 0.076545 1.116
R-HSA-9679506 SARS-CoV Infections 0.058928 1.230
R-HSA-162909 Host Interactions of HIV factors 0.095751 1.019
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly 0.097452 1.011
R-HSA-2995410 Nuclear Envelope (NE) Reassembly 0.098769 1.005
R-HSA-177539 Autointegration results in viral DNA circles 0.106287 0.974
R-HSA-8951430 RUNX3 regulates WNT signaling 0.117380 0.930
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters 0.117380 0.930
R-HSA-198693 AKT phosphorylates targets in the nucleus 0.139156 0.856
R-HSA-212300 PRC2 methylates histones and DNA 0.101346 0.994
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript 0.113277 0.946
R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts 0.117331 0.931
R-HSA-72202 Transport of Mature Transcript to Cytoplasm 0.103834 0.984
R-HSA-6807505 RNA polymerase II transcribes snRNA genes 0.116930 0.932
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templa... 0.121422 0.916
R-HSA-174417 Telomere C-strand (Lagging Strand) Synthesis 0.125547 0.901
R-HSA-69478 G2/M DNA replication checkpoint 0.106287 0.974
R-HSA-2470946 Cohesin Loading onto Chromatin 0.117380 0.930
R-HSA-446107 Type I hemidesmosome assembly 0.128335 0.892
R-HSA-176974 Unwinding of DNA 0.139156 0.856
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery 0.142366 0.847
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange 0.109260 0.962
R-HSA-9837999 Mitochondrial protein degradation 0.141935 0.848
R-HSA-175567 Integration of viral DNA into host genomic DNA 0.106287 0.974
R-HSA-9828211 Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation 0.128335 0.892
R-HSA-164843 2-LTR circle formation 0.149842 0.824
R-HSA-9710421 Defective pyroptosis 0.133896 0.873
R-HSA-9609690 HCMV Early Events 0.133359 0.875
R-HSA-69275 G2/M Transition 0.115540 0.937
R-HSA-453274 Mitotic G2-G2/M phases 0.119007 0.924
R-HSA-1257604 PIP3 activates AKT signaling 0.101636 0.993
R-HSA-9609646 HCMV Infection 0.123992 0.907
R-HSA-425986 Sodium/Proton exchangers 0.128335 0.892
R-HSA-9022702 MECP2 regulates transcription of neuronal ligands 0.149842 0.824
R-HSA-177243 Interactions of Rev with host cellular proteins 0.117331 0.931
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus 0.121422 0.916
R-HSA-162599 Late Phase of HIV Life Cycle 0.141455 0.849
R-HSA-9824585 Regulation of MITF-M-dependent genes involved in pigmentation 0.142366 0.847
R-HSA-9762293 Regulation of CDH11 gene transcription 0.139156 0.856
R-HSA-8953854 Metabolism of RNA 0.117983 0.928
R-HSA-165054 Rev-mediated nuclear export of HIV RNA 0.109260 0.962
R-HSA-168274 Export of Viral Ribonucleoproteins from Nucleus 0.146643 0.834
R-HSA-195721 Signaling by WNT 0.105418 0.977
R-HSA-3214858 RMTs methylate histone arginines 0.138116 0.860
R-HSA-168276 NS1 Mediated Effects on Host Pathways 0.113277 0.946
R-HSA-388841 Regulation of T cell activation by CD28 family 0.133471 0.875
R-HSA-389948 Co-inhibition by PD-1 0.140814 0.851
R-HSA-73933 Resolution of Abasic Sites (AP sites) 0.121422 0.916
R-HSA-2559583 Cellular Senescence 0.105437 0.977
R-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligand 0.139156 0.856
R-HSA-8986944 Transcriptional Regulation by MECP2 0.130608 0.884
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins 0.128335 0.892
R-HSA-9824446 Viral Infection Pathways 0.128201 0.892
R-HSA-9764790 Positive Regulation of CDH1 Gene Transcription 0.149842 0.824
R-HSA-1474290 Collagen formation 0.141935 0.848
R-HSA-9615017 FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes 0.125547 0.901
R-HSA-75153 Apoptotic execution phase 0.146643 0.834
R-HSA-201556 Signaling by ALK 0.113277 0.946
R-HSA-5357801 Programmed Cell Death 0.152331 0.817
R-HSA-157579 Telomere Maintenance 0.153578 0.814
R-HSA-425410 Metal ion SLC transporters 0.155275 0.809
R-HSA-9758941 Gastrulation 0.157541 0.803
R-HSA-9931512 Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters 0.170821 0.767
R-HSA-198323 AKT phosphorylates targets in the cytosol 0.181117 0.742
R-HSA-5685939 HDR through MMEJ (alt-NHEJ) 0.191285 0.718
R-HSA-9933947 Formation of the non-canonical BAF (ncBAF) complex 0.191285 0.718
R-HSA-9933939 Formation of the polybromo-BAF (pBAF) complex 0.201327 0.696
R-HSA-69166 Removal of the Flap Intermediate 0.201327 0.696
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) 0.211246 0.675
R-HSA-9933946 Formation of the embryonic stem cell BAF (esBAF) complex 0.211246 0.675
R-HSA-73780 RNA Polymerase III Chain Elongation 0.211246 0.675
R-HSA-5656121 Translesion synthesis by POLI 0.221042 0.656
R-HSA-5655862 Translesion synthesis by POLK 0.230717 0.637
R-HSA-174437 Removal of the Flap Intermediate from the C-strand 0.240272 0.619
R-HSA-73980 RNA Polymerase III Transcription Termination 0.249709 0.603
R-HSA-9934037 Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) 0.268235 0.571
R-HSA-73772 RNA Polymerase I Promoter Escape 0.172812 0.762
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER 0.190653 0.720
R-HSA-6802952 Signaling by BRAF and RAF1 fusions 0.231542 0.635
R-HSA-5693607 Processing of DNA double-strand break ends 0.305076 0.516
R-HSA-69183 Processive synthesis on the lagging strand 0.211246 0.675
R-HSA-73893 DNA Damage Bypass 0.159627 0.797
R-HSA-110312 Translesion synthesis by REV1 0.211246 0.675
R-HSA-9931521 The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CL... 0.230717 0.637
R-HSA-110320 Translesion Synthesis by POLH 0.259030 0.587
R-HSA-162592 Integration of provirus 0.170821 0.767
R-HSA-5693548 Sensing of DNA Double Strand Breaks 0.170821 0.767
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet fun... 0.245311 0.610
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition 0.318787 0.496
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter 0.286306 0.543
R-HSA-68949 Orc1 removal from chromatin 0.172812 0.762
R-HSA-9821993 Replacement of protamines by nucleosomes in the male pronucleus 0.312583 0.505
R-HSA-9925563 Developmental Lineage of Pancreatic Ductal Cells 0.249909 0.602
R-HSA-180786 Extension of Telomeres 0.204188 0.690
R-HSA-69306 DNA Replication 0.167025 0.777
R-HSA-2428928 IRS-related events triggered by IGF1R 0.213271 0.671
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter 0.295174 0.530
R-HSA-69052 Switching of origins to a post-replicative state 0.268317 0.571
R-HSA-5619507 Activation of HOX genes during differentiation 0.177706 0.750
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogen... 0.177706 0.750
R-HSA-416550 Sema4D mediated inhibition of cell attachment and migration 0.170821 0.767
R-HSA-180689 APOBEC3G mediated resistance to HIV-1 infection 0.170821 0.767
R-HSA-9824878 Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 0.170821 0.767
R-HSA-5357786 TNFR1-induced proapoptotic signaling 0.277327 0.557
R-HSA-168325 Viral Messenger RNA Synthesis 0.213271 0.671
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs 0.318787 0.496
R-HSA-2428924 IGF1R signaling cascade 0.226964 0.644
R-HSA-6782135 Dual incision in TC-NER 0.199664 0.700
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) 0.231542 0.635
R-HSA-162594 Early Phase of HIV Life Cycle 0.277327 0.557
R-HSA-425381 Bicarbonate transporters 0.160397 0.795
R-HSA-68884 Mitotic Telophase/Cytokinesis 0.170821 0.767
R-HSA-425561 Sodium/Calcium exchangers 0.170821 0.767
R-HSA-392451 G beta:gamma signalling through PI3Kgamma 0.303932 0.517
R-HSA-6790901 rRNA modification in the nucleus and cytosol 0.222391 0.653
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) 0.277522 0.557
R-HSA-2243919 Crosslinking of collagen fibrils 0.259030 0.587
R-HSA-9006925 Intracellular signaling by second messengers 0.169146 0.772
R-HSA-9614399 Regulation of localization of FOXO transcription factors 0.160397 0.795
R-HSA-8983711 OAS antiviral response 0.181117 0.742
R-HSA-9005891 Loss of function of MECP2 in Rett syndrome 0.181117 0.742
R-HSA-9697154 Disorders of Nervous System Development 0.181117 0.742
R-HSA-9005895 Pervasive developmental disorders 0.181117 0.742
R-HSA-111447 Activation of BAD and translocation to mitochondria 0.211246 0.675
R-HSA-3270619 IRF3-mediated induction of type I IFN 0.211246 0.675
R-HSA-9755779 SARS-CoV-2 targets host intracellular signalling and regulatory pathways 0.211246 0.675
R-HSA-389513 Co-inhibition by CTLA4 0.268235 0.571
R-HSA-5578749 Transcriptional regulation by small RNAs 0.263714 0.579
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) 0.318787 0.496
R-HSA-8939902 Regulation of RUNX2 expression and activity 0.213271 0.671
R-HSA-9675151 Disorders of Developmental Biology 0.230717 0.637
R-HSA-4419969 Depolymerization of the Nuclear Lamina 0.249709 0.603
R-HSA-9634638 Estrogen-dependent nuclear events downstream of ESR-membrane signaling 0.303932 0.517
R-HSA-9823730 Formation of definitive endoderm 0.268235 0.571
R-HSA-8948751 Regulation of PTEN stability and activity 0.177247 0.751
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures 0.204188 0.690
R-HSA-8941332 RUNX2 regulates genes involved in cell migration 0.160397 0.795
R-HSA-9856872 Malate-aspartate shuttle 0.201327 0.696
R-HSA-6784531 tRNA processing in the nucleus 0.217827 0.662
R-HSA-9013973 TICAM1-dependent activation of IRF3/IRF7 0.170821 0.767
R-HSA-936964 Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) 0.230717 0.637
R-HSA-9824594 Regulation of MITF-M-dependent genes involved in apoptosis 0.277327 0.557
R-HSA-3214847 HATs acetylate histones 0.159509 0.797
R-HSA-1358803 Downregulation of ERBB2:ERBB3 signaling 0.181117 0.742
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis 0.305076 0.516
R-HSA-68875 Mitotic Prophase 0.235202 0.629
R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) 0.240272 0.619
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors 0.191285 0.718
R-HSA-8949215 Mitochondrial calcium ion transport 0.286306 0.543
R-HSA-9856651 MITF-M-dependent gene expression 0.159892 0.796
R-HSA-9007101 Rab regulation of trafficking 0.225376 0.647
R-HSA-9755088 Ribavirin ADME 0.286306 0.543
R-HSA-8878166 Transcriptional regulation by RUNX2 0.231918 0.635
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers 0.228756 0.641
R-HSA-9725370 Signaling by ALK fusions and activated point mutants 0.187012 0.728
R-HSA-1169408 ISG15 antiviral mechanism 0.277522 0.557
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA 0.254509 0.594
R-HSA-9700206 Signaling by ALK in cancer 0.187012 0.728
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription 0.159627 0.797
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer 0.303932 0.517
R-HSA-1834941 STING mediated induction of host immune responses 0.259030 0.587
R-HSA-211000 Gene Silencing by RNA 0.187012 0.728
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer 0.208724 0.680
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 0.208724 0.680
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants 0.208724 0.680
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer 0.208724 0.680
R-HSA-3700989 Transcriptional Regulation by TP53 0.263184 0.580
R-HSA-9614085 FOXO-mediated transcription 0.159509 0.797
R-HSA-2028269 Signaling by Hippo 0.240272 0.619
R-HSA-9694516 SARS-CoV-2 Infection 0.314459 0.502
R-HSA-2644603 Signaling by NOTCH1 in Cancer 0.208724 0.680
R-HSA-1980143 Signaling by NOTCH1 0.282122 0.550
R-HSA-9932451 SWI/SNF chromatin remodelers 0.321126 0.493
R-HSA-9932444 ATP-dependent chromatin remodelers 0.321126 0.493
R-HSA-420029 Tight junction interactions 0.321126 0.493
R-HSA-400685 Sema4D in semaphorin signaling 0.321126 0.493
R-HSA-203927 MicroRNA (miRNA) biogenesis 0.321126 0.493
R-HSA-3214842 HDMs demethylate histones 0.321126 0.493
R-HSA-9705671 SARS-CoV-2 activates/modulates innate and adaptive immune responses 0.322544 0.491
R-HSA-6802957 Oncogenic MAPK signaling 0.323344 0.490
R-HSA-1500620 Meiosis 0.323344 0.490
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory si... 0.327893 0.484
R-HSA-141424 Amplification of signal from the kinetochores 0.327893 0.484
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs 0.327893 0.484
R-HSA-9931510 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock gene... 0.329563 0.482
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathway 0.329563 0.482
R-HSA-9730414 MITF-M-regulated melanocyte development 0.332088 0.479
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation 0.332434 0.478
R-HSA-174414 Processive synthesis on the C-strand of the telomere 0.337897 0.471
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery 0.337897 0.471
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation 0.337897 0.471
R-HSA-73863 RNA Polymerase I Transcription Termination 0.337897 0.471
R-HSA-389357 CD28 dependent PI3K/Akt signaling 0.337897 0.471
R-HSA-445095 Interaction between L1 and Ankyrins 0.337897 0.471
R-HSA-5357956 TNFR1-induced NF-kappa-B signaling pathway 0.337897 0.471
R-HSA-201451 Signaling by BMP 0.337897 0.471
R-HSA-73894 DNA Repair 0.338537 0.470
R-HSA-9645723 Diseases of programmed cell death 0.341490 0.467
R-HSA-167287 HIV elongation arrest and recovery 0.346127 0.461
R-HSA-167290 Pausing and recovery of HIV elongation 0.346127 0.461
R-HSA-5205685 PINK1-PRKN Mediated Mitophagy 0.346127 0.461
R-HSA-73884 Base Excision Repair 0.350508 0.455
R-HSA-9709570 Impaired BRCA2 binding to RAD51 0.354255 0.451
R-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT) 0.354255 0.451
R-HSA-9759475 Regulation of CDH11 Expression and Function 0.354255 0.451
R-HSA-210745 Regulation of gene expression in beta cells 0.354255 0.451
R-HSA-68962 Activation of the pre-replicative complex 0.362283 0.441
R-HSA-8863795 Downregulation of ERBB2 signaling 0.362283 0.441
R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation 0.362283 0.441
R-HSA-114452 Activation of BH3-only proteins 0.362283 0.441
R-HSA-9917777 Epigenetic regulation by WDR5-containing histone modifying complexes 0.363235 0.440
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes 0.363235 0.440
R-HSA-73887 Death Receptor Signaling 0.363235 0.440
R-HSA-68867 Assembly of the pre-replicative complex 0.368414 0.434
R-HSA-162588 Budding and maturation of HIV virion 0.370211 0.432
R-HSA-211733 Regulation of activated PAK-2p34 by proteasome mediated degradation 0.370211 0.432
R-HSA-9610379 HCMV Late Events 0.373362 0.428
R-HSA-9675126 Diseases of mitotic cell cycle 0.378042 0.422
R-HSA-350562 Regulation of ornithine decarboxylase (ODC) 0.378042 0.422
R-HSA-4791275 Signaling by WNT in cancer 0.378042 0.422
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity 0.378042 0.422
R-HSA-9006936 Signaling by TGFB family members 0.383460 0.416
R-HSA-5685938 HDR through Single Strand Annealing (SSA) 0.385775 0.414
R-HSA-9668328 Sealing of the nuclear envelope (NE) by ESCRT-III 0.385775 0.414
R-HSA-9930044 Nuclear RNA decay 0.385775 0.414
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not kno... 0.385775 0.414
R-HSA-9764260 Regulation of Expression and Function of Type II Classical Cadherins 0.385775 0.414
R-HSA-397795 G-protein beta:gamma signalling 0.385775 0.414
R-HSA-69273 Cyclin A/B1/B2 associated events during G2/M transition 0.385775 0.414
R-HSA-8878159 Transcriptional regulation by RUNX3 0.390520 0.408
R-HSA-170834 Signaling by TGF-beta Receptor Complex 0.390520 0.408
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis 0.393413 0.405
R-HSA-180534 Vpu mediated degradation of CD4 0.393413 0.405
R-HSA-9619665 EGR2 and SOX10-mediated initiation of Schwann cell myelination 0.393413 0.405
R-HSA-2467813 Separation of Sister Chromatids 0.396866 0.401
R-HSA-193704 p75 NTR receptor-mediated signalling 0.399267 0.399
R-HSA-5205647 Mitophagy 0.400956 0.397
R-HSA-349425 Autodegradation of the E3 ubiquitin ligase COP1 0.400956 0.397
R-HSA-75815 Ubiquitin-dependent degradation of Cyclin D 0.400956 0.397
R-HSA-69618 Mitotic Spindle Checkpoint 0.403619 0.394
R-HSA-70171 Glycolysis 0.403619 0.394
R-HSA-5619102 SLC transporter disorders 0.406870 0.391
R-HSA-8854050 FBXL7 down-regulates AURKA during mitotic entry and in early mitosis 0.408406 0.389
R-HSA-174113 SCF-beta-TrCP mediated degradation of Emi1 0.408406 0.389
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange 0.408406 0.389
R-HSA-169911 Regulation of Apoptosis 0.408406 0.389
R-HSA-3371453 Regulation of HSF1-mediated heat shock response 0.412278 0.385
R-HSA-2559580 Oxidative Stress Induced Senescence 0.412278 0.385
R-HSA-180585 Vif-mediated degradation of APOBEC3G 0.415764 0.381
R-HSA-450408 AUF1 (hnRNP D0) binds and destabilizes mRNA 0.415764 0.381
R-HSA-6804757 Regulation of TP53 Degradation 0.415764 0.381
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol 0.420133 0.377
R-HSA-427359 SIRT1 negatively regulates rRNA expression 0.423031 0.374
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants 0.423031 0.374
R-HSA-4641258 Degradation of DVL 0.423031 0.374
R-HSA-4641257 Degradation of AXIN 0.423031 0.374
R-HSA-9762114 GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 0.423031 0.374
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription 0.423031 0.374
R-HSA-9833110 RSV-host interactions 0.425149 0.371
R-HSA-5619115 Disorders of transmembrane transporters 0.427492 0.369
R-HSA-5696398 Nucleotide Excision Repair 0.429407 0.367
R-HSA-5689880 Ub-specific processing proteases 0.430016 0.367
R-HSA-1566948 Elastic fibre formation 0.430207 0.366
R-HSA-9958790 SLC-mediated transport of inorganic anions 0.430207 0.366
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat 0.437295 0.359
R-HSA-9929356 GSK3B-mediated proteasomal degradation of PD-L1(CD274) 0.437295 0.359
R-HSA-1236978 Cross-presentation of soluble exogenous antigens (endosomes) 0.437295 0.359
R-HSA-381771 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) 0.437295 0.359
R-HSA-69541 Stabilization of p53 0.437295 0.359
R-HSA-6806003 Regulation of TP53 Expression and Degradation 0.437295 0.359
R-HSA-9670095 Inhibition of DNA recombination at telomere 0.444296 0.352
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript 0.444296 0.352
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat 0.444296 0.352
R-HSA-167169 HIV Transcription Elongation 0.444296 0.352
R-HSA-9604323 Negative regulation of NOTCH4 signaling 0.444296 0.352
R-HSA-8941858 Regulation of RUNX3 expression and activity 0.444296 0.352
R-HSA-69002 DNA Replication Pre-Initiation 0.446271 0.350
R-HSA-9648025 EML4 and NUDC in mitotic spindle formation 0.446271 0.350
R-HSA-5218920 VEGFR2 mediated vascular permeability 0.451209 0.346
R-HSA-5362768 Hh mutants are degraded by ERAD 0.451209 0.346
R-HSA-9929491 SPOP-mediated proteasomal degradation of PD-L1(CD274) 0.451209 0.346
R-HSA-8853884 Transcriptional Regulation by VENTX 0.451209 0.346
R-HSA-5676590 NIK-->noncanonical NF-kB signaling 0.451209 0.346
R-HSA-9607240 FLT3 Signaling 0.451209 0.346
R-HSA-5674135 MAP2K and MAPK activation 0.458037 0.339
R-HSA-9656223 Signaling by RAF1 mutants 0.458037 0.339
R-HSA-9932298 Degradation of CRY and PER proteins 0.458037 0.339
R-HSA-5610780 Degradation of GLI1 by the proteasome 0.458037 0.339
R-HSA-6811438 Intra-Golgi traffic 0.458037 0.339
R-HSA-5610783 Degradation of GLI2 by the proteasome 0.458037 0.339
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome 0.458037 0.339
R-HSA-1483249 Inositol phosphate metabolism 0.458736 0.338
R-HSA-165159 MTOR signalling 0.464780 0.333
R-HSA-400508 Incretin synthesis, secretion, and inactivation 0.464780 0.333
R-HSA-5387390 Hh mutants abrogate ligand secretion 0.471440 0.327
R-HSA-8854214 TBC/RABGAPs 0.471440 0.327
R-HSA-187577 SCF(Skp2)-mediated degradation of p27/p21 0.478018 0.321
R-HSA-9907900 Proteasome assembly 0.478018 0.321
R-HSA-8868773 rRNA processing in the nucleus and cytosol 0.478448 0.320
R-HSA-4420097 VEGFA-VEGFR2 Pathway 0.479146 0.320
R-HSA-909733 Interferon alpha/beta signaling 0.479146 0.320
R-HSA-4608870 Asymmetric localization of PCP proteins 0.484514 0.315
R-HSA-5678895 Defective CFTR causes cystic fibrosis 0.484514 0.315
R-HSA-5607761 Dectin-1 mediated noncanonical NF-kB signaling 0.484514 0.315
R-HSA-69601 Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A 0.484514 0.315
R-HSA-69613 p53-Independent G1/S DNA Damage Checkpoint 0.484514 0.315
R-HSA-9824272 Somitogenesis 0.484514 0.315
R-HSA-1592230 Mitochondrial biogenesis 0.487179 0.312
R-HSA-70326 Glucose metabolism 0.487179 0.312
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF 0.490929 0.309
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants 0.490929 0.309
R-HSA-9649948 Signaling downstream of RAS mutants 0.490929 0.309
R-HSA-174084 Autodegradation of Cdh1 by Cdh1:APC/C 0.490929 0.309
R-HSA-6802949 Signaling by RAS mutants 0.490929 0.309
R-HSA-5357905 Regulation of TNFR1 signaling 0.490929 0.309
R-HSA-68877 Mitotic Prometaphase 0.494173 0.306
R-HSA-174154 APC/C:Cdc20 mediated degradation of Securin 0.497266 0.303
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network 0.497266 0.303
R-HSA-2500257 Resolution of Sister Chromatid Cohesion 0.503011 0.298
R-HSA-3371556 Cellular response to heat stress 0.503011 0.298
R-HSA-5693571 Nonhomologous End-Joining (NHEJ) 0.503523 0.298
R-HSA-389356 Co-stimulation by CD28 0.503523 0.298
R-HSA-9725371 Nuclear events stimulated by ALK signaling in cancer 0.503523 0.298
R-HSA-157858 Gap junction trafficking and regulation 0.509703 0.293
R-HSA-9766229 Degradation of CDH1 0.509703 0.293
R-HSA-69563 p53-Dependent G1 DNA Damage Response 0.509703 0.293
R-HSA-69580 p53-Dependent G1/S DNA damage checkpoint 0.509703 0.293
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic 0.515787 0.288
R-HSA-109704 PI3K Cascade 0.515807 0.288
R-HSA-5658442 Regulation of RAS by GAPs 0.515807 0.288
R-HSA-9748787 Azathioprine ADME 0.515807 0.288
R-HSA-912446 Meiotic recombination 0.521835 0.282
R-HSA-1169091 Activation of NF-kappaB in B cells 0.521835 0.282
R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha 0.521835 0.282
R-HSA-5358346 Hedgehog ligand biogenesis 0.521835 0.282
R-HSA-194138 Signaling by VEGF 0.522355 0.282
R-HSA-72187 mRNA 3'-end processing 0.527788 0.278
R-HSA-174184 Cdc20:Phospho-APC/C mediated degradation of Cyclin A 0.527788 0.278
R-HSA-9931269 AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) 0.527788 0.278
R-HSA-6794361 Neurexins and neuroligins 0.527788 0.278
R-HSA-5250924 B-WICH complex positively regulates rRNA expression 0.533668 0.273
R-HSA-174178 APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins ... 0.533668 0.273
R-HSA-445355 Smooth Muscle Contraction 0.533668 0.273
R-HSA-1221632 Meiotic synapsis 0.533668 0.273
R-HSA-179419 APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of th... 0.533668 0.273
R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6 0.539474 0.268
R-HSA-9754678 SARS-CoV-2 modulates host translation machinery 0.539474 0.268
R-HSA-1474165 Reproduction 0.544896 0.264
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic 0.545209 0.263
R-HSA-176409 APC/C:Cdc20 mediated degradation of mitotic proteins 0.545209 0.263
R-HSA-176814 Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins 0.550873 0.259
R-HSA-75893 TNF signaling 0.550873 0.259
R-HSA-177929 Signaling by EGFR 0.550873 0.259
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer 0.550873 0.259
R-HSA-109606 Intrinsic Pathway for Apoptosis 0.550873 0.259
R-HSA-9909396 Circadian clock 0.552244 0.258
R-HSA-112399 IRS-mediated signalling 0.556466 0.255
R-HSA-9764561 Regulation of CDH1 Function 0.556466 0.255
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at... 0.567446 0.246
R-HSA-186712 Regulation of beta-cell development 0.567446 0.246
R-HSA-3858494 Beta-catenin independent WNT signaling 0.570249 0.244
R-HSA-9018519 Estrogen-dependent gene expression 0.570249 0.244
R-HSA-351202 Metabolism of polyamines 0.572834 0.242
R-HSA-1227986 Signaling by ERBB2 0.572834 0.242
R-HSA-9820952 Respiratory Syncytial Virus Infection Pathway 0.573787 0.241
R-HSA-73856 RNA Polymerase II Transcription Termination 0.578156 0.238
R-HSA-9793380 Formation of paraxial mesoderm 0.578156 0.238
R-HSA-375165 NCAM signaling for neurite out-growth 0.583411 0.234
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint 0.583411 0.234
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase 0.583411 0.234
R-HSA-9616222 Transcriptional regulation of granulopoiesis 0.583411 0.234
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centr... 0.588601 0.230
R-HSA-380259 Loss of Nlp from mitotic centrosomes 0.588601 0.230
R-HSA-8848021 Signaling by PTK6 0.588601 0.230
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases 0.588601 0.230
R-HSA-69615 G1/S DNA Damage Checkpoints 0.588601 0.230
R-HSA-373755 Semaphorin interactions 0.588601 0.230
R-HSA-74751 Insulin receptor signalling cascade 0.593727 0.226
R-HSA-199991 Membrane Trafficking 0.598628 0.223
R-HSA-1234174 Cellular response to hypoxia 0.598789 0.223
R-HSA-8854518 AURKA Activation by TPX2 0.603789 0.219
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors 0.605150 0.218
R-HSA-5693606 DNA Double Strand Break Response 0.608726 0.216
R-HSA-72312 rRNA processing 0.610531 0.214
R-HSA-167172 Transcription of the HIV genome 0.613603 0.212
R-HSA-1650814 Collagen biosynthesis and modifying enzymes 0.613603 0.212
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR) 0.623174 0.205
R-HSA-75105 Fatty acyl-CoA biosynthesis 0.623174 0.205
R-HSA-8939211 ESR-mediated signaling 0.623767 0.205
R-HSA-9755511 KEAP1-NFE2L2 pathway 0.624315 0.205
R-HSA-9820448 Developmental Cell Lineages of the Exocrine Pancreas 0.627514 0.202
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins 0.627872 0.202
R-HSA-453276 Regulation of mitotic cell cycle 0.627872 0.202
R-HSA-5632684 Hedgehog 'on' state 0.627872 0.202
R-HSA-8978934 Metabolism of cofactors 0.627872 0.202
R-HSA-9856649 Transcriptional and post-translational regulation of MITF-M expression and activ... 0.627872 0.202
R-HSA-157118 Signaling by NOTCH 0.631562 0.200
R-HSA-499943 Interconversion of nucleotide di- and triphosphates 0.632510 0.199
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements 0.632510 0.199
R-HSA-168273 Influenza Viral RNA Transcription and Replication 0.636986 0.196
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes 0.637092 0.196
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane 0.637092 0.196
R-HSA-4086398 Ca2+ pathway 0.637092 0.196
R-HSA-69473 G2/M DNA damage checkpoint 0.641616 0.193
R-HSA-9013694 Signaling by NOTCH4 0.641616 0.193
R-HSA-380287 Centrosome maturation 0.646085 0.190
R-HSA-71403 Citric acid cycle (TCA cycle) 0.646085 0.190
R-HSA-877300 Interferon gamma signaling 0.649321 0.188
R-HSA-5689603 UCH proteinases 0.650497 0.187
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes 0.659160 0.181
R-HSA-5619084 ABC transporter disorders 0.659160 0.181
R-HSA-4086400 PCP/CE pathway 0.659160 0.181
R-HSA-5688426 Deubiquitination 0.668852 0.175
R-HSA-162582 Signal Transduction 0.672038 0.173
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway 0.679892 0.168
R-HSA-72306 tRNA processing 0.684341 0.165
R-HSA-212436 Generic Transcription Pathway 0.685394 0.164
R-HSA-418555 G alpha (s) signalling events 0.687127 0.163
R-HSA-6794362 Protein-protein interactions at synapses 0.687829 0.163
R-HSA-5687128 MAPK6/MAPK4 signaling 0.687829 0.163
R-HSA-9909615 Regulation of PD-L1(CD274) Post-translational modification 0.691724 0.160
R-HSA-983231 Factors involved in megakaryocyte development and platelet production 0.698069 0.156
R-HSA-390466 Chaperonin-mediated protein folding 0.699369 0.155
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes 0.703121 0.153
R-HSA-9663891 Selective autophagy 0.703121 0.153
R-HSA-1236974 ER-Phagosome pathway 0.706826 0.151
R-HSA-168255 Influenza Infection 0.708695 0.150
R-HSA-5620912 Anchoring of the basal body to the plasma membrane 0.710485 0.148
R-HSA-202424 Downstream TCR signaling 0.710485 0.148
R-HSA-74752 Signaling by Insulin receptor 0.721191 0.142
R-HSA-391251 Protein folding 0.721191 0.142
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation 0.728901 0.137
R-HSA-9954709 Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide 0.734856 0.134
R-HSA-6807878 COPI-mediated anterograde transport 0.738167 0.132
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation 0.738167 0.132
R-HSA-5607764 CLEC7A (Dectin-1) signaling 0.738167 0.132
R-HSA-5663205 Infectious disease 0.738657 0.132
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling 0.741097 0.130
R-HSA-5673001 RAF/MAP kinase cascade 0.743008 0.129
R-HSA-913531 Interferon Signaling 0.744506 0.128
R-HSA-5610787 Hedgehog 'off' state 0.751003 0.124
R-HSA-382556 ABC-family proteins mediated transport 0.751003 0.124
R-HSA-9009391 Extra-nuclear estrogen signaling 0.754113 0.123
R-HSA-9020702 Interleukin-1 signaling 0.754113 0.123
R-HSA-5684996 MAPK1/MAPK3 signaling 0.756528 0.121
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade 0.769094 0.114
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit 0.777642 0.109
R-HSA-1236975 Antigen processing-Cross presentation 0.777642 0.109
R-HSA-937061 TRIF (TICAM1)-mediated TLR4 signaling 0.783165 0.106
R-HSA-166166 MyD88-independent TLR4 cascade 0.783165 0.106
R-HSA-202403 TCR signaling 0.783165 0.106
R-HSA-6803157 Antimicrobial peptides 0.785875 0.105
R-HSA-1852241 Organelle biogenesis and maintenance 0.798592 0.098
R-HSA-5628897 TP53 Regulates Metabolic Genes 0.798929 0.097
R-HSA-72737 Cap-dependent Translation Initiation 0.803926 0.095
R-HSA-72613 Eukaryotic Translation Initiation 0.803926 0.095
R-HSA-373760 L1CAM interactions 0.803926 0.095
R-HSA-8951664 Neddylation 0.804316 0.095
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases 0.806244 0.094
R-HSA-2980736 Peptide hormone metabolism 0.806378 0.093
R-HSA-2219528 PI3K/AKT Signaling in Cancer 0.808800 0.092
R-HSA-1474244 Extracellular matrix organization 0.815756 0.088
R-HSA-9759194 Nuclear events mediated by NFE2L2 0.815885 0.088
R-HSA-5653656 Vesicle-mediated transport 0.816600 0.088
R-HSA-9816359 Maternal to zygotic transition (MZT) 0.820462 0.086
R-HSA-2132295 MHC class II antigen presentation 0.820462 0.086
R-HSA-6809371 Formation of the cornified envelope 0.822708 0.085
R-HSA-977606 Regulation of Complement cascade 0.824927 0.084
R-HSA-114608 Platelet degranulation 0.831417 0.080
R-HSA-199418 Negative regulation of the PI3K/AKT network 0.837668 0.077
R-HSA-5683057 MAPK family signaling cascades 0.838508 0.076
R-HSA-8856688 Golgi-to-ER retrograde transport 0.843688 0.074
R-HSA-76005 Response to elevated platelet cytosolic Ca2+ 0.845645 0.073
R-HSA-9948299 Ribosome-associated quality control 0.856885 0.067
R-HSA-5358351 Signaling by Hedgehog 0.856885 0.067
R-HSA-9006931 Signaling by Nuclear Receptors 0.858808 0.066
R-HSA-196854 Metabolism of vitamins and cofactors 0.860000 0.066
R-HSA-1632852 Macroautophagy 0.862195 0.064
R-HSA-1266738 Developmental Biology 0.863812 0.064
R-HSA-2871837 FCERI mediated NF-kB activation 0.868972 0.061
R-HSA-9734767 Developmental Cell Lineages 0.869808 0.061
R-HSA-166658 Complement cascade 0.870614 0.060
R-HSA-199977 ER to Golgi Anterograde Transport 0.873837 0.059
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade 0.875418 0.058
R-HSA-9711123 Cellular response to chemical stress 0.876104 0.057
R-HSA-9010553 Regulation of expression of SLITs and ROBOs 0.881548 0.055
R-HSA-446652 Interleukin-1 family signaling 0.881548 0.055
R-HSA-983169 Class I MHC mediated antigen processing & presentation 0.882056 0.055
R-HSA-1280215 Cytokine Signaling in Immune system 0.882537 0.054
R-HSA-9612973 Autophagy 0.887377 0.052
R-HSA-983705 Signaling by the B Cell Receptor (BCR) 0.890184 0.051
R-HSA-425407 SLC-mediated transmembrane transport 0.895610 0.048
R-HSA-2262752 Cellular responses to stress 0.906338 0.043
R-HSA-5621481 C-type lectin receptors (CLRs) 0.907976 0.042
R-HSA-449147 Signaling by Interleukins 0.908496 0.042
R-HSA-611105 Respiratory electron transport 0.915765 0.038
R-HSA-1280218 Adaptive Immune System 0.921126 0.036
R-HSA-5617833 Cilium Assembly 0.927622 0.033
R-HSA-168898 Toll-like Receptor Cascades 0.928531 0.032
R-HSA-1643685 Disease 0.936923 0.028
R-HSA-948021 Transport to the Golgi and subsequent modification 0.937816 0.028
R-HSA-597592 Post-translational protein modification 0.938062 0.028
R-HSA-376176 Signaling by ROBO receptors 0.938598 0.028
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling 0.938598 0.028
R-HSA-6805567 Keratinization 0.941630 0.026
R-HSA-9675108 Nervous system development 0.945129 0.025
R-HSA-397014 Muscle contraction 0.945900 0.024
R-HSA-9748784 Drug ADME 0.949859 0.022
R-HSA-8953897 Cellular responses to stimuli 0.958568 0.018
R-HSA-15869 Metabolism of nucleotides 0.960089 0.018
R-HSA-422475 Axon guidance 0.973663 0.012
R-HSA-76002 Platelet activation, signaling and aggregation 0.975367 0.011
R-HSA-72766 Translation 0.977250 0.010
R-HSA-392499 Metabolism of proteins 0.977973 0.010
R-HSA-71387 Metabolism of carbohydrates and carbohydrate derivatives 0.982886 0.007
R-HSA-1428517 Aerobic respiration and respiratory electron transport 0.989510 0.005
R-HSA-8978868 Fatty acid metabolism 0.995549 0.002
R-HSA-446203 Asparagine N-linked glycosylation 0.996328 0.002
R-HSA-388396 GPCR downstream signalling 0.997502 0.001
R-HSA-6798695 Neutrophil degranulation 0.997658 0.001
R-HSA-168256 Immune System 0.997700 0.001
R-HSA-109582 Hemostasis 0.997757 0.001
R-HSA-112316 Neuronal System 0.997967 0.001
R-HSA-382551 Transport of small molecules 0.998786 0.001
R-HSA-372790 Signaling by GPCR 0.998987 0.000
R-HSA-71291 Metabolism of amino acids and derivatives 0.999708 0.000
R-HSA-168249 Innate Immune System 0.999867 0.000
R-HSA-556833 Metabolism of lipids 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
CK2A2CK2A2 0.813 0.620 1 0.550
CK2A1CK2A1 0.807 0.591 1 0.551
MOSMOS 0.771 0.447 1 0.348
COTCOT 0.766 0.086 2 0.788
CDC7CDC7 0.765 0.228 1 0.332
GRK1GRK1 0.765 0.177 -2 0.804
BMPR1BBMPR1B 0.764 0.186 1 0.216
GRK7GRK7 0.762 0.213 1 0.134
GRK6GRK6 0.761 0.213 1 0.179
FAM20CFAM20C 0.761 0.093 2 0.527
KISKIS 0.757 0.026 1 0.101
BMPR1ABMPR1A 0.755 0.176 1 0.231
TGFBR1TGFBR1 0.754 0.161 -2 0.805
IKKBIKKB 0.753 0.013 -2 0.684
GRK4GRK4 0.752 0.104 -2 0.828
CAMK2GCAMK2G 0.752 0.088 2 0.725
ALK2ALK2 0.750 0.194 -2 0.821
ACVR2BACVR2B 0.748 0.159 -2 0.807
DSTYKDSTYK 0.748 0.016 2 0.779
IKKAIKKA 0.747 0.050 -2 0.688
CLK3CLK3 0.747 0.039 1 0.147
PLK3PLK3 0.746 0.108 2 0.726
ATMATM 0.746 0.020 1 0.130
PRPKPRPK 0.743 -0.003 -1 0.770
ACVR2AACVR2A 0.743 0.112 -2 0.797
GRK5GRK5 0.743 0.058 -3 0.851
IKKEIKKE 0.743 -0.098 1 0.111
TBK1TBK1 0.742 -0.119 1 0.111
RAF1RAF1 0.741 -0.050 1 0.153
CAMK2BCAMK2B 0.740 0.086 2 0.697
PIM3PIM3 0.740 0.010 -3 0.786
MTORMTOR 0.740 -0.088 1 0.117
NDR2NDR2 0.739 0.013 -3 0.788
HUNKHUNK 0.739 -0.014 2 0.759
PLK1PLK1 0.738 0.038 -2 0.788
ALK4ALK4 0.738 0.084 -2 0.813
GCN2GCN2 0.738 -0.151 2 0.693
JNK3JNK3 0.736 0.010 1 0.101
BMPR2BMPR2 0.736 -0.036 -2 0.821
PDHK4PDHK4 0.735 -0.134 1 0.172
CAMK1BCAMK1B 0.734 -0.027 -3 0.809
ATRATR 0.734 -0.063 1 0.154
JNK2JNK2 0.733 0.001 1 0.079
GRK2GRK2 0.733 0.029 -2 0.707
GRK3GRK3 0.733 0.061 -2 0.688
PLK2PLK2 0.732 0.106 -3 0.827
ERK5ERK5 0.731 -0.092 1 0.130
SKMLCKSKMLCK 0.729 -0.038 -2 0.724
CAMK2ACAMK2A 0.729 0.055 2 0.727
PDHK1PDHK1 0.728 -0.162 1 0.156
RSK2RSK2 0.727 -0.016 -3 0.710
MAPKAPK2MAPKAPK2 0.727 0.020 -3 0.647
BCKDKBCKDK 0.727 -0.103 -1 0.750
LATS1LATS1 0.727 0.064 -3 0.806
JNK1JNK1 0.726 0.012 1 0.101
MLK1MLK1 0.726 -0.132 2 0.706
TTBK2TTBK2 0.725 -0.081 2 0.614
CDK1CDK1 0.725 -0.040 1 0.090
TGFBR2TGFBR2 0.725 -0.086 -2 0.803
NEK7NEK7 0.725 -0.167 -3 0.796
DNAPKDNAPK 0.725 -0.029 1 0.085
MARK4MARK4 0.725 -0.063 4 0.762
NEK6NEK6 0.724 -0.120 -2 0.802
PKN3PKN3 0.724 -0.072 -3 0.761
LATS2LATS2 0.724 -0.020 -5 0.743
NLKNLK 0.724 -0.134 1 0.131
PIM1PIM1 0.724 -0.003 -3 0.726
P38GP38G 0.724 -0.039 1 0.063
DLKDLK 0.723 -0.095 1 0.136
DYRK4DYRK4 0.722 0.002 1 0.083
ULK2ULK2 0.722 -0.229 2 0.680
RIPK3RIPK3 0.722 -0.159 3 0.558
NUAK2NUAK2 0.722 -0.063 -3 0.784
CDK8CDK8 0.722 -0.082 1 0.091
DRAK1DRAK1 0.722 -0.000 1 0.155
CDKL1CDKL1 0.722 -0.063 -3 0.741
CK1ECK1E 0.721 0.050 -3 0.631
P38DP38D 0.721 -0.022 1 0.079
NDR1NDR1 0.720 -0.076 -3 0.774
CAMLCKCAMLCK 0.720 -0.078 -2 0.714
NIKNIK 0.720 -0.141 -3 0.832
MEK1MEK1 0.720 0.051 2 0.750
DAPK2DAPK2 0.719 -0.049 -3 0.810
DYRK2DYRK2 0.719 -0.054 1 0.086
MEKK3MEKK3 0.719 -0.025 1 0.110
AMPKA1AMPKA1 0.719 -0.075 -3 0.788
TLK2TLK2 0.718 -0.069 1 0.117
ULK1ULK1 0.718 -0.183 -3 0.765
P38BP38B 0.718 -0.045 1 0.080
PASKPASK 0.718 0.077 -3 0.802
CLK2CLK2 0.717 0.033 -3 0.706
GSK3AGSK3A 0.717 0.056 4 0.532
MST4MST4 0.717 -0.118 2 0.712
MASTLMASTL 0.717 -0.184 -2 0.732
CAMK2DCAMK2D 0.717 -0.083 -3 0.757
P90RSKP90RSK 0.717 -0.061 -3 0.715
YSK4YSK4 0.717 -0.102 1 0.119
TSSK2TSSK2 0.716 -0.058 -5 0.774
PRKD1PRKD1 0.715 -0.083 -3 0.734
CDK19CDK19 0.715 -0.088 1 0.076
ANKRD3ANKRD3 0.715 -0.174 1 0.135
RSK4RSK4 0.714 -0.013 -3 0.687
TLK1TLK1 0.714 -0.044 -2 0.826
CK1DCK1D 0.714 0.058 -3 0.580
P70S6KBP70S6KB 0.713 -0.054 -3 0.733
WNK1WNK1 0.713 -0.170 -2 0.739
AURAAURA 0.713 -0.014 -2 0.492
SMG1SMG1 0.713 -0.075 1 0.138
SRPK1SRPK1 0.713 -0.066 -3 0.697
CHAK2CHAK2 0.713 -0.154 -1 0.711
BRSK1BRSK1 0.713 -0.054 -3 0.723
PKN2PKN2 0.712 -0.121 -3 0.776
MSK1MSK1 0.712 -0.016 -3 0.671
MSK2MSK2 0.712 -0.051 -3 0.669
CDK3CDK3 0.711 -0.052 1 0.081
WNK3WNK3 0.711 -0.239 1 0.131
ERK1ERK1 0.711 -0.073 1 0.071
AMPKA2AMPKA2 0.711 -0.083 -3 0.753
MLK3MLK3 0.711 -0.120 2 0.641
CAMK4CAMK4 0.710 -0.102 -3 0.756
CDKL5CDKL5 0.710 -0.089 -3 0.722
HIPK4HIPK4 0.710 -0.122 1 0.114
PAK1PAK1 0.710 -0.081 -2 0.633
PKACGPKACG 0.709 -0.081 -2 0.598
NIM1NIM1 0.709 -0.144 3 0.628
CK1G1CK1G1 0.709 -0.018 -3 0.646
MLK4MLK4 0.709 -0.121 2 0.629
RIPK1RIPK1 0.709 -0.221 1 0.107
CDK17CDK17 0.709 -0.080 1 0.070
ERK2ERK2 0.709 -0.083 1 0.078
PRKXPRKX 0.708 0.009 -3 0.631
MAPKAPK3MAPKAPK3 0.708 -0.089 -3 0.684
PLK4PLK4 0.708 -0.130 2 0.585
P38AP38A 0.708 -0.079 1 0.089
MARK3MARK3 0.707 -0.050 4 0.701
RSK3RSK3 0.707 -0.087 -3 0.702
BRAFBRAF 0.707 -0.048 -4 0.841
MARK2MARK2 0.707 -0.057 4 0.675
PRKD2PRKD2 0.707 -0.078 -3 0.688
NEK9NEK9 0.707 -0.255 2 0.702
TSSK1TSSK1 0.707 -0.097 -3 0.809
MYLK4MYLK4 0.706 -0.052 -2 0.633
GSK3BGSK3B 0.706 0.016 4 0.519
PKCDPKCD 0.706 -0.136 2 0.683
CDK13CDK13 0.706 -0.099 1 0.096
QSKQSK 0.705 -0.074 4 0.730
CDK18CDK18 0.705 -0.086 1 0.081
PKRPKR 0.705 -0.153 1 0.146
ICKICK 0.705 -0.113 -3 0.770
CDK7CDK7 0.705 -0.104 1 0.111
CK1A2CK1A2 0.705 0.022 -3 0.578
SRPK3SRPK3 0.705 -0.062 -3 0.675
CDK2CDK2 0.705 -0.090 1 0.104
GAKGAK 0.704 0.028 1 0.165
PKACBPKACB 0.704 -0.030 -2 0.530
HIPK2HIPK2 0.703 -0.069 1 0.072
CLK4CLK4 0.703 -0.055 -3 0.720
SRPK2SRPK2 0.703 -0.064 -3 0.614
PRP4PRP4 0.703 -0.022 -3 0.797
SIKSIK 0.703 -0.080 -3 0.697
CDK5CDK5 0.702 -0.096 1 0.106
MARK1MARK1 0.702 -0.065 4 0.717
TTBK1TTBK1 0.702 -0.106 2 0.563
PAK2PAK2 0.702 -0.111 -2 0.623
VRK2VRK2 0.701 -0.305 1 0.151
MLK2MLK2 0.700 -0.257 2 0.693
IRE1IRE1 0.700 -0.222 1 0.109
QIKQIK 0.700 -0.152 -3 0.765
AURCAURC 0.700 -0.064 -2 0.514
CAMK1GCAMK1G 0.700 -0.076 -3 0.692
DYRK1BDYRK1B 0.700 -0.063 1 0.079
CDK16CDK16 0.699 -0.071 1 0.078
PAK3PAK3 0.699 -0.145 -2 0.629
MEKK2MEKK2 0.699 -0.153 2 0.688
IRE2IRE2 0.699 -0.189 2 0.647
CDK12CDK12 0.698 -0.100 1 0.082
NUAK1NUAK1 0.698 -0.122 -3 0.723
BRSK2BRSK2 0.698 -0.132 -3 0.739
CHK1CHK1 0.698 -0.058 -3 0.744
ZAKZAK 0.697 -0.179 1 0.101
PERKPERK 0.697 -0.167 -2 0.818
DCAMKL1DCAMKL1 0.696 -0.085 -3 0.726
HIPK1HIPK1 0.695 -0.086 1 0.087
HRIHRI 0.694 -0.200 -2 0.804
MEK5MEK5 0.694 -0.240 2 0.719
AURBAURB 0.694 -0.077 -2 0.510
DYRK1ADYRK1A 0.694 -0.083 1 0.109
MEKK1MEKK1 0.694 -0.215 1 0.117
PKCGPKCG 0.694 -0.143 2 0.648
DAPK1DAPK1 0.693 0.009 -3 0.731
MELKMELK 0.693 -0.161 -3 0.730
PKCBPKCB 0.693 -0.137 2 0.634
ALPHAK3ALPHAK3 0.693 0.061 -1 0.728
TAO3TAO3 0.693 -0.120 1 0.120
CDK9CDK9 0.693 -0.117 1 0.085
SGK3SGK3 0.692 -0.087 -3 0.686
CLK1CLK1 0.692 -0.080 -3 0.687
SNRKSNRK 0.692 -0.194 2 0.620
MST2MST2 0.691 -0.087 1 0.118
DAPK3DAPK3 0.691 -0.005 -3 0.746
MST3MST3 0.691 -0.135 2 0.728
PIM2PIM2 0.691 -0.059 -3 0.678
PINK1PINK1 0.690 -0.182 1 0.149
PRKD3PRKD3 0.690 -0.109 -3 0.673
DCAMKL2DCAMKL2 0.690 -0.100 -3 0.749
SSTKSSTK 0.690 -0.080 4 0.714
CDK14CDK14 0.690 -0.101 1 0.078
NEK2NEK2 0.690 -0.231 2 0.675
TAK1TAK1 0.689 -0.072 1 0.135
DYRK3DYRK3 0.689 -0.076 1 0.085
PKCAPKCA 0.689 -0.153 2 0.624
PKCHPKCH 0.688 -0.168 2 0.625
PDHK3_TYRPDHK3_TYR 0.688 0.270 4 0.847
PAK6PAK6 0.688 -0.105 -2 0.544
AKT2AKT2 0.687 -0.068 -3 0.628
MNK1MNK1 0.687 -0.132 -2 0.648
CAMK1DCAMK1D 0.687 -0.047 -3 0.611
PKACAPKACA 0.687 -0.043 -2 0.475
CHAK1CHAK1 0.687 -0.257 2 0.641
MAPKAPK5MAPKAPK5 0.687 -0.146 -3 0.621
SMMLCKSMMLCK 0.687 -0.095 -3 0.750
PDHK4_TYRPDHK4_TYR 0.686 0.231 2 0.795
PHKG1PHKG1 0.686 -0.200 -3 0.762
NEK5NEK5 0.686 -0.244 1 0.117
NEK8NEK8 0.685 -0.189 2 0.706
CDK10CDK10 0.685 -0.088 1 0.077
CAMKK1CAMKK1 0.685 -0.139 -2 0.679
PKG2PKG2 0.685 -0.108 -2 0.526
GCKGCK 0.685 -0.119 1 0.108
MNK2MNK2 0.685 -0.162 -2 0.632
PDHK1_TYRPDHK1_TYR 0.685 0.219 -1 0.832
WNK4WNK4 0.684 -0.221 -2 0.730
MAP2K6_TYRMAP2K6_TYR 0.684 0.210 -1 0.814
MPSK1MPSK1 0.683 -0.129 1 0.133
TXKTXK 0.683 0.195 1 0.289
NEK11NEK11 0.683 -0.205 1 0.106
EEF2KEEF2K 0.683 -0.115 3 0.614
CK1ACK1A 0.682 0.024 -3 0.507
PKCZPKCZ 0.682 -0.199 2 0.661
ERK7ERK7 0.682 -0.073 2 0.456
TAO2TAO2 0.680 -0.168 2 0.721
HIPK3HIPK3 0.680 -0.133 1 0.076
LKB1LKB1 0.678 -0.142 -3 0.779
P70S6KP70S6K 0.678 -0.095 -3 0.627
MST1MST1 0.678 -0.133 1 0.108
BMPR2_TYRBMPR2_TYR 0.678 0.085 -1 0.832
PDK1PDK1 0.678 -0.169 1 0.128
MAP2K4_TYRMAP2K4_TYR 0.677 0.146 -1 0.812
CAMKK2CAMKK2 0.677 -0.159 -2 0.656
IRAK4IRAK4 0.676 -0.271 1 0.095
RIPK2RIPK2 0.675 -0.208 1 0.105
PHKG2PHKG2 0.674 -0.184 -3 0.740
YANK3YANK3 0.674 -0.037 2 0.410
EPHA4EPHA4 0.674 0.100 2 0.748
CDK6CDK6 0.674 -0.112 1 0.075
AKT1AKT1 0.674 -0.093 -3 0.639
PAK5PAK5 0.674 -0.121 -2 0.491
VRK1VRK1 0.674 -0.218 2 0.748
SYKSYK 0.673 0.128 -1 0.809
CDK4CDK4 0.673 -0.107 1 0.084
PTK2PTK2 0.673 0.133 -1 0.833
PAK4PAK4 0.673 -0.110 -2 0.497
HPK1HPK1 0.673 -0.153 1 0.094
TTKTTK 0.672 -0.077 -2 0.816
IRAK1IRAK1 0.672 -0.269 -1 0.642
MRCKAMRCKA 0.672 -0.065 -3 0.686
MEK2MEK2 0.672 -0.123 2 0.695
SGK1SGK1 0.672 -0.043 -3 0.540
MINKMINK 0.671 -0.215 1 0.096
CK1G3CK1G3 0.671 0.031 -3 0.467
FYNFYN 0.671 0.074 -1 0.781
PKCTPKCT 0.670 -0.185 2 0.625
SRMSSRMS 0.670 0.076 1 0.201
EPHA6EPHA6 0.670 0.029 -1 0.853
TNIKTNIK 0.669 -0.182 3 0.597
EPHB4EPHB4 0.669 0.025 -1 0.833
MAP2K7_TYRMAP2K7_TYR 0.669 -0.064 2 0.759
MAP3K15MAP3K15 0.669 -0.249 1 0.095
EPHB2EPHB2 0.668 0.064 -1 0.823
SBKSBK 0.668 -0.020 -3 0.496
STK33STK33 0.668 -0.169 2 0.579
OSR1OSR1 0.668 -0.109 2 0.683
TESK1_TYRTESK1_TYR 0.668 -0.052 3 0.683
LRRK2LRRK2 0.667 -0.226 2 0.726
BLKBLK 0.667 0.075 -1 0.804
EGFREGFR 0.667 0.020 1 0.102
FERFER 0.667 0.033 1 0.216
INSRRINSRR 0.666 -0.009 3 0.561
NEK4NEK4 0.666 -0.288 1 0.093
EPHB1EPHB1 0.666 0.012 1 0.170
HGKHGK 0.666 -0.230 3 0.591
YES1YES1 0.665 -0.012 -1 0.782
SLKSLK 0.665 -0.148 -2 0.621
CK1G2CK1G2 0.665 0.044 -3 0.561
ROCK2ROCK2 0.665 -0.085 -3 0.723
CAMK1ACAMK1A 0.665 -0.085 -3 0.583
MRCKBMRCKB 0.665 -0.084 -3 0.671
PINK1_TYRPINK1_TYR 0.664 -0.114 1 0.176
FLT1FLT1 0.664 0.025 -1 0.843
MAKMAK 0.664 -0.079 -2 0.604
PKCEPKCE 0.663 -0.138 2 0.629
EPHA5EPHA5 0.663 0.075 2 0.736
EPHB3EPHB3 0.663 0.021 -1 0.824
KHS2KHS2 0.663 -0.146 1 0.094
PBKPBK 0.663 -0.120 1 0.158
FGRFGR 0.662 -0.051 1 0.168
MEKK6MEKK6 0.662 -0.285 1 0.098
NEK1NEK1 0.661 -0.284 1 0.102
PKCIPKCI 0.661 -0.192 2 0.635
KHS1KHS1 0.661 -0.187 1 0.092
ERBB4ERBB4 0.661 0.031 1 0.124
CHK2CHK2 0.660 -0.098 -3 0.565
LCKLCK 0.660 0.009 -1 0.799
AKT3AKT3 0.660 -0.079 -3 0.556
PKN1PKN1 0.659 -0.144 -3 0.642
DMPK1DMPK1 0.659 -0.056 -3 0.702
FGFR2FGFR2 0.659 -0.076 3 0.612
MOKMOK 0.659 -0.104 1 0.086
YSK1YSK1 0.659 -0.225 2 0.670
LOKLOK 0.658 -0.221 -2 0.649
HCKHCK 0.658 -0.038 -1 0.796
FGFR3FGFR3 0.658 -0.028 3 0.595
JAK3JAK3 0.658 -0.082 1 0.127
PKMYT1_TYRPKMYT1_TYR 0.658 -0.196 3 0.651
RETRET 0.657 -0.182 1 0.109
BIKEBIKE 0.657 -0.095 1 0.130
ERBB2ERBB2 0.656 -0.055 1 0.123
ITKITK 0.656 -0.027 -1 0.754
EPHA3EPHA3 0.656 0.009 2 0.714
KITKIT 0.655 -0.081 3 0.575
FGFR4FGFR4 0.655 -0.012 -1 0.754
ASK1ASK1 0.655 -0.206 1 0.103
DDR1DDR1 0.655 -0.111 4 0.762
EPHA7EPHA7 0.655 -0.020 2 0.734
EPHA8EPHA8 0.655 0.008 -1 0.812
SRCSRC 0.654 -0.011 -1 0.771
BMXBMX 0.654 -0.012 -1 0.680
ABL2ABL2 0.654 -0.084 -1 0.753
CSF1RCSF1R 0.654 -0.151 3 0.562
MERTKMERTK 0.653 -0.052 3 0.579
STLK3STLK3 0.652 -0.159 1 0.097
EPHA2EPHA2 0.652 0.020 -1 0.808
METMET 0.651 -0.064 3 0.563
FRKFRK 0.651 -0.060 -1 0.807
CRIKCRIK 0.651 -0.064 -3 0.623
LYNLYN 0.651 -0.015 3 0.520
TECTEC 0.651 -0.044 -1 0.693
PTK2BPTK2B 0.650 0.002 -1 0.709
TYK2TYK2 0.650 -0.286 1 0.107
ROCK1ROCK1 0.650 -0.096 -3 0.685
MST1RMST1R 0.650 -0.222 3 0.582
TYRO3TYRO3 0.649 -0.179 3 0.563
NTRK1NTRK1 0.649 -0.105 -1 0.785
KDRKDR 0.649 -0.119 3 0.549
FLT3FLT3 0.649 -0.149 3 0.555
FGFR1FGFR1 0.649 -0.141 3 0.576
JAK2JAK2 0.648 -0.265 1 0.102
HASPINHASPIN 0.647 -0.131 -1 0.524
FLT4FLT4 0.647 -0.095 3 0.565
ABL1ABL1 0.647 -0.118 -1 0.743
BUB1BUB1 0.647 -0.143 -5 0.724
LIMK2_TYRLIMK2_TYR 0.645 -0.217 -3 0.825
ROS1ROS1 0.645 -0.236 3 0.539
YANK2YANK2 0.644 -0.053 2 0.420
LIMK1_TYRLIMK1_TYR 0.644 -0.245 2 0.725
TAO1TAO1 0.644 -0.210 1 0.087
PKG1PKG1 0.643 -0.131 -2 0.451
MYO3AMYO3A 0.643 -0.209 1 0.092
TNK2TNK2 0.643 -0.115 3 0.547
ZAP70ZAP70 0.643 0.026 -1 0.689
CSKCSK 0.643 -0.072 2 0.732
IGF1RIGF1R 0.643 -0.055 3 0.505
NTRK3NTRK3 0.643 -0.107 -1 0.743
BTKBTK 0.642 -0.125 -1 0.710
AXLAXL 0.642 -0.138 3 0.572
INSRINSR 0.642 -0.122 3 0.532
TEKTEK 0.642 -0.142 3 0.533
NEK10_TYRNEK10_TYR 0.641 -0.190 1 0.100
PDGFRBPDGFRB 0.641 -0.234 3 0.575
LTKLTK 0.640 -0.145 3 0.546
AAK1AAK1 0.640 -0.086 1 0.096
DDR2DDR2 0.639 -0.090 3 0.550
NTRK2NTRK2 0.639 -0.171 3 0.562
NEK3NEK3 0.639 -0.314 1 0.087
ALKALK 0.637 -0.173 3 0.520
MYO3BMYO3B 0.637 -0.231 2 0.681
PTK6PTK6 0.637 -0.170 -1 0.673
MATKMATK 0.636 -0.077 -1 0.662
JAK1JAK1 0.634 -0.230 1 0.085
EPHA1EPHA1 0.633 -0.149 3 0.534
WEE1_TYRWEE1_TYR 0.632 -0.155 -1 0.661
PDGFRAPDGFRA 0.630 -0.284 3 0.562
TNNI3K_TYRTNNI3K_TYR 0.626 -0.218 1 0.118
FESFES 0.623 -0.086 -1 0.656
MUSKMUSK 0.622 -0.164 1 0.093
TNK1TNK1 0.620 -0.277 3 0.557