Motif 112 (n=380)

Position-wise Probabilities

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uniprot genes site source protein function
A0A0G2JS52 None S424 ochoa Myelin transcription factor 1 domain-containing protein None
A0A1W2PNV4 None S236 ochoa Actin-related protein 2/3 complex subunit 1A None
A4D161 FAM221A S238 ochoa Protein FAM221A None
A6NI28 ARHGAP42 S683 ochoa Rho GTPase-activating protein 42 (Rho GTPase-activating protein 10-like) (Rho-type GTPase-activating protein 42) May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle. {ECO:0000269|PubMed:24335996}.
A8MV72 None S204 ochoa Putative UPF0607 protein ENSP00000382826 None
B8ZZF3 None S381 ochoa Mediator of RNA polymerase II transcription subunit 26 (Cofactor required for Sp1 transcriptional activation subunit 7) (Mediator complex subunit 26) Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. {ECO:0000256|ARBA:ARBA00057523}.
D6RIA3 C4orf54 S446 ochoa Uncharacterized protein C4orf54 (Familial obliterative portal venopathy) None
O00213 APBB1 S228 psp Amyloid beta precursor protein binding family B member 1 (Amyloid-beta A4 precursor protein-binding family B member 1) (Protein Fe65) Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1 (PubMed:19234442). Required for histone H4 acetylation at double-strand breaks (DSBs) (PubMed:19234442). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity (PubMed:33938178). Functions in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4 (PubMed:19343227). Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Plays a role in the maintenance of lens transparency (By similarity). May play a role in muscle cell strength (By similarity). Acts as a molecular adapter that functions in neurite outgrowth by activating the RAC1-ARF6 axis upon insulin treatment (PubMed:36250347). {ECO:0000250|UniProtKB:Q9QXJ1, ECO:0000269|PubMed:15031292, ECO:0000269|PubMed:18468999, ECO:0000269|PubMed:18922798, ECO:0000269|PubMed:19234442, ECO:0000269|PubMed:19343227, ECO:0000269|PubMed:25342469, ECO:0000269|PubMed:33938178, ECO:0000269|PubMed:36250347}.
O00308 WWP2 Y392 psp NEDD4-like E3 ubiquitin-protein ligase WWP2 (EC 2.3.2.26) (Atrophin-1-interacting protein 2) (AIP2) (HECT-type E3 ubiquitin transferase WWP2) (WW domain-containing protein 2) E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation. {ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:19651900}.
O00409 FOXN3 S354 ochoa Forkhead box protein N3 (Checkpoint suppressor 1) Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints). {ECO:0000269|PubMed:16102918}.
O00423 EML1 S160 ochoa Echinoderm microtubule-associated protein-like 1 (EMAP-1) (HuEMAP-1) Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se. {ECO:0000250|UniProtKB:Q05BC3}.
O00750 PIK3C2B S177 ochoa Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta (PI3K-C2-beta) (PtdIns-3-kinase C2 subunit beta) (EC 2.7.1.137) (EC 2.7.1.154) (C2-PI3K) (Phosphoinositide 3-kinase-C2-beta) Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns (PubMed:10805725, PubMed:11533253, PubMed:9830063). Does not phosphorylate PtdIns(4,5)P2 (PubMed:9830063). May be involved in EGF and PDGF signaling cascades (PubMed:10805725). {ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11533253, ECO:0000269|PubMed:9830063}.
O14490 DLGAP1 S510 ochoa Disks large-associated protein 1 (DAP-1) (Guanylate kinase-associated protein) (hGKAP) (PSD-95/SAP90-binding protein 1) (SAP90/PSD-95-associated protein 1) (SAPAP1) Part of the postsynaptic scaffold in neuronal cells.
O14497 ARID1A S610 ochoa AT-rich interactive domain-containing protein 1A (ARID domain-containing protein 1A) (B120) (BRG1-associated factor 250) (BAF250) (BRG1-associated factor 250a) (BAF250A) (Osa homolog 1) (hOSA1) (SWI-like protein) (SWI/SNF complex protein p270) (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1) (hELD) 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. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). {ECO:0000250|UniProtKB:A2BH40, ECO:0000303|PubMed:12672490, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
O14513 NCKAP5 S1120 ochoa Nck-associated protein 5 (NAP-5) (Peripheral clock protein) None
O14523 C2CD2L S492 ochoa Phospholipid transfer protein C2CD2L (C2 domain-containing protein 2-like) (C2CD2-like) (Transmembrane protein 24) Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:28209843). It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling (PubMed:28209843). Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane (PubMed:28209843). Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules (PubMed:28209843). {ECO:0000269|PubMed:28209843}.
O14544 SOCS6 S190 ochoa Suppressor of cytokine signaling 6 (SOCS-6) (Cytokine-inducible SH2 protein 4) (CIS-4) (Suppressor of cytokine signaling 4) (SOCS-4) SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor. {ECO:0000250, ECO:0000269|PubMed:21030588}.
O14640 DVL1 S625 ochoa Segment polarity protein dishevelled homolog DVL-1 (Dishevelled-1) (DSH homolog 1) Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).
O14715 RGPD8 S1294 ochoa RANBP2-like and GRIP domain-containing protein 8 (Ran-binding protein 2-like 3) (RanBP2-like 3) (RanBP2L3) None
O14795 UNC13B S254 ochoa Protein unc-13 homolog B (Munc13-2) (munc13) Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP) (By similarity). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). In collaboration with UNC13A, facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity). {ECO:0000250|UniProtKB:Q9Z1N9}.
O14896 IRF6 S413 ochoa|psp Interferon regulatory factor 6 (IRF-6) Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). {ECO:0000250}.
O14948 TFEC S330 ochoa Transcription factor EC (TFE-C) (Class E basic helix-loop-helix protein 34) (bHLHe34) (Transcription factor EC-like) (hTFEC-L) Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form. {ECO:0000250, ECO:0000269|PubMed:11467950, ECO:0000269|PubMed:9256061}.
O14974 PPP1R12A S585 psp Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase-targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin-binding subunit) Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity. {ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:19245366, ECO:0000269|PubMed:20354225}.
O15027 SEC16A S1250 psp Protein transport protein Sec16A (SEC16 homolog A) (p250) Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17005010, PubMed:17192411, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity). {ECO:0000250|UniProtKB:E9QAT4, ECO:0000269|PubMed:17005010, ECO:0000269|PubMed:17192411, ECO:0000269|PubMed:17428803, ECO:0000269|PubMed:21768384, ECO:0000269|PubMed:22355596, ECO:0000269|PubMed:28067262, ECO:0000269|PubMed:28442536, ECO:0000269|PubMed:29300766}.
O15055 PER2 S480 psp Period circadian protein homolog 2 (hPER2) (Circadian clock protein PERIOD 2) Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndrome and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3' termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like BMAL1 or G6PC1. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1. {ECO:0000250|UniProtKB:O54943}.
O15195 VILL S762 ochoa Villin-like protein Possible tumor suppressor.
O15195 VILL S783 ochoa Villin-like protein Possible tumor suppressor.
O15504 NUP42 S62 ochoa Nucleoporin NUP42 (NLP-1) (NUP42 homolog) (Nucleoporin hCG1) (Nucleoporin-42) (Nucleoporin-like protein 2) Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. {ECO:0000269|PubMed:10610322, ECO:0000269|PubMed:16000379}.; FUNCTION: (Microbial infection) In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope. {ECO:0000269|PubMed:12228227}.
O15534 PER1 S99 ochoa Period circadian protein homolog 1 (hPER1) (Circadian clock protein PERIOD 1) (Circadian pacemaker protein Rigui) Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/BMAL1 target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by BMAL1:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1. {ECO:0000269|PubMed:24005054}.
O43166 SIPA1L1 S1151 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}.
O43167 ZBTB24 S523 ochoa Zinc finger and BTB domain-containing protein 24 (Zinc finger protein 450) May be involved in BMP2-induced transcription. {ECO:0000250}.
O43237 DYNC1LI2 S34 ochoa Cytoplasmic dynein 1 light intermediate chain 2 (Dynein light intermediate chain 2, cytosolic) (LIC-2) (LIC53/55) Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. {ECO:0000305|PubMed:36071160}.
O43294 TGFB1I1 S46 ochoa Transforming growth factor beta-1-induced transcript 1 protein (Androgen receptor coactivator 55 kDa protein) (Androgen receptor-associated protein of 55 kDa) (Hydrogen peroxide-inducible clone 5 protein) (Hic-5) Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. May play a role in the processes of cell growth, proliferation, migration, differentiation and senescence. May have a zinc-dependent DNA-binding activity. {ECO:0000269|PubMed:10075738, ECO:0000269|PubMed:11463817, ECO:0000269|PubMed:11856738, ECO:0000269|PubMed:12177201, ECO:0000269|PubMed:12445807, ECO:0000269|PubMed:12700349, ECO:0000269|PubMed:15211577, ECO:0000269|PubMed:15561701, ECO:0000269|PubMed:16141357, ECO:0000269|PubMed:16624805, ECO:0000269|PubMed:16803896, ECO:0000269|PubMed:16849583, ECO:0000269|PubMed:17166536, ECO:0000269|PubMed:17233630, ECO:0000269|PubMed:9032249}.
O43295 SRGAP3 S1070 ochoa SLIT-ROBO Rho GTPase-activating protein 3 (srGAP3) (Mental disorder-associated GAP) (Rho GTPase-activating protein 14) (WAVE-associated Rac GTPase-activating protein) (WRP) GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons. {ECO:0000269|PubMed:12195014, ECO:0000269|PubMed:12447388}.
O43524 FOXO3 S588 psp Forkhead box protein O3 (AF6q21 protein) (Forkhead in rhabdomyosarcoma-like 1) Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy (PubMed:10102273, PubMed:16751106, PubMed:21329882, PubMed:30513302). Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress (PubMed:10102273, PubMed:16751106). Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription (PubMed:23283301). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) differentiation by activating expression of FOXP3 (PubMed:30513302). {ECO:0000250|UniProtKB:Q9WVH4, ECO:0000269|PubMed:10102273, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:21329882, ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:30513302}.
O43543 XRCC2 S247 psp DNA repair protein XRCC2 (X-ray repair cross-complementing protein 2) Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. {ECO:0000269|PubMed:11751635, ECO:0000269|PubMed:11834724, ECO:0000269|PubMed:21276791, ECO:0000269|PubMed:23149936, ECO:0000269|PubMed:27233470}.
O43572 AKAP10 S540 ochoa A-kinase anchor protein 10, mitochondrial (AKAP-10) (Dual specificity A kinase-anchoring protein 2) (D-AKAP-2) (Protein kinase A-anchoring protein 10) (PRKA10) Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). {ECO:0000250}.
O60281 ZNF292 S1810 ochoa Zinc finger protein 292 May be involved in transcriptional regulation.
O60307 MAST3 S927 ochoa Microtubule-associated serine/threonine-protein kinase 3 (EC 2.7.11.1) None
O60353 FZD6 S675 ochoa Frizzled-6 (Fz-6) (hFz6) Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity). {ECO:0000250|UniProtKB:Q61089}.
O60381 HBP1 S402 ochoa|psp HMG box-containing protein 1 (HMG box transcription factor 1) (High mobility group box transcription factor 1) Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4. {ECO:0000269|PubMed:10562551, ECO:0000269|PubMed:10958660, ECO:0000269|PubMed:11500377}.
O60447 EVI5 S116 ochoa Ecotropic viral integration site 5 protein homolog (EVI-5) (Neuroblastoma stage 4S gene protein) Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis. {ECO:0000269|PubMed:16439210}.
O60563 CCNT1 S564 ochoa|psp Cyclin-T1 (CycT1) (Cyclin-T) Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II) (PubMed:16109376, PubMed:16109377, PubMed:30134174, PubMed:35393539). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II (PubMed:29849146, PubMed:35393539). {ECO:0000269|PubMed:16109376, ECO:0000269|PubMed:16109377, ECO:0000269|PubMed:29849146, ECO:0000269|PubMed:30134174, ECO:0000269|PubMed:35393539}.; FUNCTION: (Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes. {ECO:0000269|PubMed:10329125, ECO:0000269|PubMed:10329126}.
O75122 CLASP2 S352 ochoa CLIP-associating protein 2 (Cytoplasmic linker-associated protein 2) (Protein Orbit homolog 2) (hOrbit2) Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules (PubMed:26003921). Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2 (PubMed:16824950). This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle (PubMed:16866869, PubMed:16914514). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. {ECO:0000269|PubMed:11290329, ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:16824950, ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514, ECO:0000269|PubMed:17543864, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:26003921}.
O75362 ZNF217 S1004 ochoa Zinc finger protein 217 Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. {ECO:0000269|PubMed:16203743, ECO:0000269|PubMed:16940172, ECO:0000269|PubMed:17259635, ECO:0000269|PubMed:18625718}.
O75376 NCOR1 S1958 ochoa Nuclear receptor corepressor 1 (N-CoR) (N-CoR1) Mediates transcriptional repression by certain nuclear receptors (PubMed:20812024). Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Mediates the NR1D1-dependent repression and circadian regulation of TSHB expression (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). {ECO:0000250|UniProtKB:Q60974, ECO:0000269|PubMed:14527417, ECO:0000269|PubMed:20812024}.
O75717 WDHD1 S313 ochoa WD repeat and HMG-box DNA-binding protein 1 (Acidic nucleoplasmic DNA-binding protein 1) (And-1) Core replisome component that acts as a replication initiation factor. Binds directly to the CMG complex and functions as a hub to recruit additional proteins to the replication fork. {ECO:0000269|PubMed:19805216, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:35585232}.
O94885 SASH1 S335 ochoa SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein) Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:23776175, ECO:0000269|PubMed:25315659}.
O94885 SASH1 S510 ochoa SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein) Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:23776175, ECO:0000269|PubMed:25315659}.
O94900 TOX S216 ochoa Thymocyte selection-associated high mobility group box protein TOX (Thymus high mobility group box protein TOX) Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis (By similarity). Binds to GC-rich DNA sequences in the proximity of transcription start sites and may alter chromatin structure, modifying access of transcription factors to DNA. During cortical development, controls the neural stem cell pool by inhibiting the switch from proliferative to differentiating progenitors. Beyond progenitor cells, promotes neurite outgrowth in newborn neurons migrating to reach the cortical plate. May activate or repress critical genes for neural stem cell fate such as SOX2, EOMES and ROBO2 (By similarity). Plays an essential role in the development of lymphoid tissue-inducer (LTi) cells, a subset necessary for the formation of secondary lymphoid organs: peripheral lymph nodes and Peyer's patches. Acts as a developmental checkpoint and regulates thymocyte positive selection toward T cell lineage commitment. Required for the development of various T cell subsets, including CD4-positive helper T cells, CD8-positive cytotoxic T cells, regulatory T cells and CD1D-dependent natural killer T (NKT) cells. Required for the differentiation of common lymphoid progenitors (CMP) to innate lymphoid cells (ILC) (By similarity). May regulate the NOTCH-mediated gene program, promoting differentiation of the ILC lineage. Required at the progenitor phase of NK cell development in the bone marrow to specify NK cell lineage commitment (By similarity) (PubMed:21126536). Upon chronic antigen stimulation, diverts T cell development by promoting the generation of exhaustive T cells, while suppressing effector and memory T cell programming. May regulate the expression of genes encoding inhibitory receptors such as PDCD1 and induce the exhaustion program, to prevent the overstimulation of T cells and activation-induced cell death (By similarity). {ECO:0000250|UniProtKB:Q66JW3, ECO:0000269|PubMed:21126536}.
O94919 ENDOD1 S303 ochoa Endonuclease domain-containing 1 protein (EC 3.1.30.-) May act as a DNase and a RNase. Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26. {ECO:0000269|PubMed:32614325}.
O95071 UBR5 S1532 psp E3 ubiquitin-protein ligase UBR5 (EC 2.3.2.26) (E3 ubiquitin-protein ligase, HECT domain-containing 1) (Hyperplastic discs protein homolog) (hHYD) (Progestin-induced protein) E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus (PubMed:29033132, PubMed:33208877, PubMed:37478846, PubMed:37478862). Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates (PubMed:29033132, PubMed:37409633). Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation (By similarity). Recognizes type-1 N-degrons, containing positively charged amino acids (Arg, Lys and His) (By similarity). Together with UBR4, part of a cytoplasm protein quality control pathway that prevents protein aggregation by catalyzing assembly of heterotypic 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on aggregated proteins, leading to substrate recognition by the segregase p97/VCP and degradation by the proteasome: UBR5 is probably branching multiple 'Lys-48'-linked chains of substrates initially modified with mixed conjugates by UBR4 (PubMed:29033132). Together with ITCH, catalyzes 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP, leading to its degradation: UBR5 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by ITCH (PubMed:29378950). Catalytic component of a nuclear protein quality control pathway that mediates ubiquitination and degradation of unpaired transcription factors (i.e. transcription factors that are not assembled into functional multiprotein complexes): specifically recognizes and binds degrons that are not accessible when transcription regulators are associated with their coactivators (PubMed:37478846, PubMed:37478862). Ubiquitinates various unpaired transcription regulator (MYC, SUPT4H1, SUPT5H, CDC20 and MCRS1), as well as ligand-bound nuclear receptors (ESR1, NR1H3, NR3C1, PGR, RARA, RXRA AND VDR) that are not associated with their nuclear receptor coactivators (NCOAs) (PubMed:33208877, PubMed:37478846, PubMed:37478862). Involved in maturation and/or transcriptional regulation of mRNA by mediating polyubiquitination and activation of CDK9 (PubMed:21127351). Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (PubMed:22884692). Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response (PubMed:11714696). Ubiquitinates acetylated PCK1 (PubMed:21726808). Acts as a positive regulator of the canonical Wnt signaling pathway by mediating (1) ubiquitination and stabilization of CTNNB1, and (2) 'Lys-48'-linked ubiquitination and degradation of TLE3 (PubMed:21118991, PubMed:28689657). Promotes disassembly of the mitotic checkpoint complex (MCC) from the APC/C complex by catalyzing ubiquitination of BUB1B, BUB3 and CDC20 (PubMed:35217622). Plays an essential role in extraembryonic development (By similarity). Required for the maintenance of skeletal tissue homeostasis by acting as an inhibitor of hedgehog (HH) signaling (By similarity). {ECO:0000250|UniProtKB:Q80TP3, ECO:0000269|PubMed:11714696, ECO:0000269|PubMed:21118991, ECO:0000269|PubMed:21127351, ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:22884692, ECO:0000269|PubMed:28689657, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:29378950, ECO:0000269|PubMed:33208877, ECO:0000269|PubMed:35217622, ECO:0000269|PubMed:37409633, ECO:0000269|PubMed:37478846, ECO:0000269|PubMed:37478862}.
O95359 TACC2 S2118 ochoa Transforming acidic coiled-coil-containing protein 2 (Anti-Zuai-1) (AZU-1) Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker. {ECO:0000250, ECO:0000269|PubMed:10749935}.
O95402 MED26 S373 ochoa Mediator of RNA polymerase II transcription subunit 26 (Activator-recruited cofactor 70 kDa component) (ARC70) (Cofactor required for Sp1 transcriptional activation subunit 7) (CRSP complex subunit 7) (Mediator complex subunit 26) (Transcriptional coactivator CRSP70) Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.
O95644 NFATC1 S175 ochoa Nuclear factor of activated T-cells, cytoplasmic 1 (NF-ATc1) (NFATc1) (NFAT transcription complex cytosolic component) (NF-ATc) (NFATc) Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity). {ECO:0000250|UniProtKB:O88942, ECO:0000269|PubMed:10358178}.
O95696 BRD1 S855 ochoa Bromodomain-containing protein 1 (BR140-like protein) (Bromodomain and PHD finger-containing protein 2) Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis (PubMed:16387653, PubMed:21753189, PubMed:21880731). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac), thereby promoting erythroid differentiation (PubMed:21753189). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:21753189, ECO:0000269|PubMed:21880731}.
O95789 ZMYM6 S378 ochoa Zinc finger MYM-type protein 6 (Transposon-derived Buster2 transposase-like protein) (Zinc finger protein 258) Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:21834987}.
O95789 ZMYM6 S759 ochoa Zinc finger MYM-type protein 6 (Transposon-derived Buster2 transposase-like protein) (Zinc finger protein 258) Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269|PubMed:21834987}.
O96013 PAK4 S243 ochoa Serine/threonine-protein kinase PAK 4 (EC 2.7.11.1) (p21-activated kinase 4) (PAK-4) Serine/threonine-protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell adhesion turnover, cell migration, growth, proliferation or cell survival (PubMed:26598620). Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin. Decreased cofilin activity may lead to stabilization of actin filaments. Phosphorylates LIMK1, a kinase that also inhibits the activity of cofilin. Phosphorylates integrin beta5/ITGB5 and thus regulates cell motility. Phosphorylates ARHGEF2 and activates the downstream target RHOA that plays a role in the regulation of assembly of focal adhesions and actin stress fibers. Stimulates cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Alternatively, inhibits apoptosis by preventing caspase-8 binding to death domain receptors in a kinase independent manner. Plays a role in cell-cycle progression by controlling levels of the cell-cycle regulatory protein CDKN1A and by phosphorylating RAN. Promotes kinase-independent stabilization of RHOU, thereby contributing to focal adhesion disassembly during cell migration (PubMed:26598620). {ECO:0000269|PubMed:11278822, ECO:0000269|PubMed:11313478, ECO:0000269|PubMed:14560027, ECO:0000269|PubMed:15660133, ECO:0000269|PubMed:20507994, ECO:0000269|PubMed:20631255, ECO:0000269|PubMed:20805321, ECO:0000269|PubMed:26598620, ECO:0000269|PubMed:26607847}.
O96028 NSD2 S614 ochoa Histone-lysine N-methyltransferase NSD2 (EC 2.1.1.357) (Multiple myeloma SET domain-containing protein) (MMSET) (Nuclear SET domain-containing protein 2) (Protein trithorax-5) (Wolf-Hirschhorn syndrome candidate 1 protein) Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:19808676, PubMed:22099308, PubMed:27571355, PubMed:29728617, PubMed:33941880). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro (PubMed:22099308). Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3) (PubMed:22099308). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells (By similarity). By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes (PubMed:16115125, PubMed:22099308, PubMed:29728617). In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation (By similarity). During heart development, associates with transcription factor NKX2-5 to repress transcription of NKX2-5 target genes (By similarity). Plays an essential role in adipogenesis, by regulating expression of genes involved in pre-adipocyte differentiation (PubMed:29728617). During T-cell receptor (TCR) and CD28-mediated T-cell activation, promotes the transcription of transcription factor BCL6 which is required for follicular helper T (Tfh) cell differentiation (By similarity). During B-cell development, required for the generation of the B1 lineage (By similarity). During B2 cell activation, may contribute to the control of isotype class switch recombination (CRS), splenic germinal center formation, and the humoral immune response (By similarity). Plays a role in class switch recombination of the immunoglobulin heavy chain (IgH) locus during B-cell activation (By similarity). By regulating the methylation of histone H3 at 'Lys-36' and histone H4 at 'Lys-20' at the IgH locus, involved in TP53BP1 recruitment to the IgH switch region and promotes the transcription of IgA (By similarity). {ECO:0000250|UniProtKB:Q8BVE8, ECO:0000269|PubMed:16115125, ECO:0000269|PubMed:19808676, ECO:0000269|PubMed:22099308, ECO:0000269|PubMed:27571355, ECO:0000269|PubMed:29728617, ECO:0000269|PubMed:33941880}.; FUNCTION: [Isoform 1]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). {ECO:0000269|PubMed:22099308}.; FUNCTION: [Isoform 4]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:22099308). Methylation of histone H3 at 'Lys-27' is controversial (PubMed:18172012, PubMed:22099308). Mono-, di- or tri-methylates histone H3 at 'Lys-27' (H3K27me, H3K27me2 and H3K27me3) (PubMed:18172012). Does not methylate histone H3 at 'Lys-27' (PubMed:22099308). May act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment (PubMed:11152655, PubMed:18172012). {ECO:0000269|PubMed:11152655, ECO:0000269|PubMed:18172012, ECO:0000269|PubMed:22099308}.
P00519 ABL1 Y139 psp Tyrosine-protein kinase ABL1 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 1) (Abelson tyrosine-protein kinase 1) (Proto-oncogene c-Abl) (p150) Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9 (PubMed:22810897). Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 also acts as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner (By similarity). Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (By similarity). {ECO:0000250|UniProtKB:P00520, ECO:0000269|PubMed:10391250, ECO:0000269|PubMed:11971963, ECO:0000269|PubMed:12379650, ECO:0000269|PubMed:12531427, ECO:0000269|PubMed:12672821, ECO:0000269|PubMed:15031292, ECO:0000269|PubMed:15556646, ECO:0000269|PubMed:15657060, ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16424036, ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:16943190, ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:17623672, ECO:0000269|PubMed:18328268, ECO:0000269|PubMed:18945674, ECO:0000269|PubMed:19891780, ECO:0000269|PubMed:20357770, ECO:0000269|PubMed:20417104, ECO:0000269|PubMed:22810897, ECO:0000269|PubMed:28428613, ECO:0000269|PubMed:9037071, ECO:0000269|PubMed:9144171, ECO:0000269|PubMed:9461559}.
P00734 F2 S199 ochoa Prothrombin (EC 3.4.21.5) (Coagulation factor II) [Cleaved into: Activation peptide fragment 1; Activation peptide fragment 2; Thrombin light chain; Thrombin heavy chain] Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Activates coagulation factor XI (F11); activation is promoted by the contact with negatively charged surfaces (PubMed:2019570, PubMed:21976677). Triggers the production of pro-inflammatory cytokines, such as MCP-1/CCL2 and IL8/CXCL8, in endothelial cells (PubMed:30568593, PubMed:9780208). {ECO:0000269|PubMed:2019570, ECO:0000269|PubMed:21976677, ECO:0000269|PubMed:2856554, ECO:0000269|PubMed:30568593, ECO:0000269|PubMed:9780208}.
P04049 RAF1 S243 ochoa RAF proto-oncogene serine/threonine-protein kinase (EC 2.7.11.1) (Proto-oncogene c-RAF) (cRaf) (Raf-1) Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at 'Ser-75'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation. {ECO:0000269|PubMed:11427728, ECO:0000269|PubMed:11719507, ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:15618521, ECO:0000269|PubMed:15849194, ECO:0000269|PubMed:16892053, ECO:0000269|PubMed:16924233, ECO:0000269|PubMed:9360956}.
P04150 NR3C1 S404 ochoa|psp Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1) Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors (PubMed:28139699). Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:25775514, ECO:0000269|PubMed:27120390, ECO:0000269|PubMed:28139699, ECO:0000269|PubMed:37478846, ECO:0000269|PubMed:9590696}.; FUNCTION: [Isoform Alpha]: Has transcriptional activation and repression activity (PubMed:11435610, PubMed:15769988, PubMed:15866175, PubMed:17635946, PubMed:19141540, PubMed:19248771, PubMed:20484466, PubMed:21664385, PubMed:23820903). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15769988, ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:17635946, ECO:0000269|PubMed:19141540, ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:20484466, ECO:0000269|PubMed:21664385, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903, ECO:0000269|PubMed:25847991}.; FUNCTION: [Isoform Beta]: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:20484466, PubMed:7769088, PubMed:8621628). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:20484466, ECO:0000269|PubMed:26711253, ECO:0000269|PubMed:7769088, ECO:0000269|PubMed:8621628}.; FUNCTION: [Isoform Alpha-2]: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).; FUNCTION: [Isoform GR-P]: Increases activity of isoform Alpha. {ECO:0000269|PubMed:11358809}.; FUNCTION: [Isoform Alpha-B]: More effective than isoform Alpha in transcriptional activation, but not repression activity. {ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform 10]: Has transcriptional activation activity. {ECO:0000269|PubMed:20484466}.; FUNCTION: [Isoform Alpha-C1]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-C2]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-C3]: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903). {ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903}.; FUNCTION: [Isoform Alpha-D1]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-D2]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-D3]: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). {ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903}.
P07451 CA3 S227 ochoa Carbonic anhydrase 3 (EC 4.2.1.1) (Carbonate dehydratase III) (Carbonic anhydrase III) (CA-III) Reversible hydration of carbon dioxide. {ECO:0000269|PubMed:17427958, ECO:0000269|PubMed:18618712}.
P08151 GLI1 S544 psp Zinc finger protein GLI1 (Glioma-associated oncogene) (Oncogene GLI) Acts as a transcriptional activator (PubMed:10806483, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:8378770). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407). {ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:2105456, ECO:0000269|PubMed:24076122, ECO:0000269|PubMed:24217340, ECO:0000269|PubMed:24311597, ECO:0000269|PubMed:28973407, ECO:0000269|PubMed:8378770}.; FUNCTION: [Isoform 2]: Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration. {ECO:0000269|PubMed:19706761}.
P08235 NR3C2 S263 psp Mineralocorticoid receptor (MR) (Nuclear receptor subfamily 3 group C member 2) Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels. {ECO:0000269|PubMed:3037703}.
P09086 POU2F2 S272 ochoa POU domain, class 2, transcription factor 2 (Lymphoid-restricted immunoglobulin octamer-binding protein NF-A2) (Octamer-binding protein 2) (Oct-2) (Octamer-binding transcription factor 2) (OTF-2) Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3') (PubMed:2904654, PubMed:7859290). Regulates IL6 expression in B cells with POU2AF1 (By similarity). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression (PubMed:2901913, PubMed:2904654). Modulates transcription transactivation by NR3C1, AR and PGR (PubMed:10480874). {ECO:0000250|UniProtKB:Q00196, ECO:0000269|PubMed:10480874, ECO:0000269|PubMed:2328728, ECO:0000269|PubMed:2901913, ECO:0000269|PubMed:2904654, ECO:0000269|PubMed:7859290}.; FUNCTION: [Isoform 5]: Activates the U2 small nuclear RNA (snRNA) promoter. {ECO:0000269|PubMed:1739980}.
P0C7U0 ELFN1 S759 ochoa Protein ELFN1 (Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1) (Protein phosphatase 1 regulatory subunit 28) Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. {ECO:0000250, ECO:0000269|PubMed:19389623}.
P11137 MAP2 S1567 ochoa Microtubule-associated protein 2 (MAP-2) The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.
P11473 VDR S182 psp Vitamin D3 receptor (VDR) (1,25-dihydroxyvitamin D3 receptor) (Nuclear receptor subfamily 1 group I member 1) Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:10678179, PubMed:15728261, PubMed:16913708, PubMed:28698609, PubMed:37478846). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites (PubMed:12016314, PubMed:32354638). {ECO:0000250|UniProtKB:P13053, ECO:0000269|PubMed:10678179, ECO:0000269|PubMed:12016314, ECO:0000269|PubMed:15728261, ECO:0000269|PubMed:16913708, ECO:0000269|PubMed:28698609, ECO:0000269|PubMed:32354638, ECO:0000269|PubMed:37478846}.
P11532 DMD S3666 ochoa Dystrophin Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}.
P15056 BRAF T119 psp Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1) Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179). {ECO:0000269|PubMed:1508179, ECO:0000269|PubMed:21441910, ECO:0000269|PubMed:29433126, ECO:0000269|PubMed:36402789, ECO:0000305}.
P15822 HIVEP1 S1740 ochoa Zinc finger protein 40 (Cirhin interaction protein) (CIRIP) (Gate keeper of apoptosis-activating protein) (GAAP) (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex-binding protein 1) (MBP-1) (Positive regulatory domain II-binding factor 1) (PRDII-BF1) This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis.
P16070 CD44 S184 ochoa CD44 antigen (CDw44) (Epican) (Extracellular matrix receptor III) (ECMR-III) (GP90 lymphocyte homing/adhesion receptor) (HUTCH-I) (Heparan sulfate proteoglycan) (Hermes antigen) (Hyaluronate receptor) (Phagocytic glycoprotein 1) (PGP-1) (Phagocytic glycoprotein I) (PGP-I) (CD antigen CD44) Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment (PubMed:16541107, PubMed:19703720, PubMed:22726066). Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection (PubMed:7528188). Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases (PubMed:18757307, PubMed:23589287). Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signaling pathways promoting calcium mobilization and actin-mediated cytoskeleton reorganization essential for cell migration and adhesion (PubMed:15123640). {ECO:0000269|PubMed:15123640, ECO:0000269|PubMed:16541107, ECO:0000269|PubMed:18757307, ECO:0000269|PubMed:19703720, ECO:0000269|PubMed:22726066, ECO:0000269|PubMed:23589287, ECO:0000269|PubMed:7528188}.
P17509 HOXB6 S136 ochoa Homeobox protein Hox-B6 (Homeobox protein Hox-2.2) (Homeobox protein Hox-2B) (Homeobox protein Hu-2) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
P17813 ENG S634 psp Endoglin (CD antigen CD105) Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}.
P17813 ENG S635 psp Endoglin (CD antigen CD105) Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}.
P18146 EGR1 S196 psp Early growth response protein 1 (EGR-1) (AT225) (Nerve growth factor-induced protein A) (NGFI-A) (Transcription factor ETR103) (Transcription factor Zif268) (Zinc finger protein 225) (Zinc finger protein Krox-24) Transcriptional regulator (PubMed:20121949). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311). Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity). Regulates the amplitude of the expression rhythms of clock genes: BMAL1, PER2 and NR1D1 in the liver via the activation of PER1 (clock repressor) transcription. Regulates the rhythmic expression of core-clock gene BMAL1 in the suprachiasmatic nucleus (SCN) (By similarity). {ECO:0000250|UniProtKB:P08046, ECO:0000269|PubMed:20121949, ECO:0000269|PubMed:25258363, ECO:0000269|PubMed:25999311}.
P19793 RXRA S66 psp Retinoic acid receptor RXR-alpha (Nuclear receptor subfamily 2 group B member 1) (Retinoid X receptor alpha) Receptor for retinoic acid that acts as a transcription factor (PubMed:10874028, PubMed:11162439, PubMed:11915042, PubMed:37478846). Forms homo- or heterodimers with retinoic acid receptors (RARs) and binds to target response elements in response to their ligands, all-trans or 9-cis retinoic acid, to regulate gene expression in various biological processes (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:16107141, PubMed:17761950, PubMed:18800767, PubMed:19167885, PubMed:28167758, PubMed:37478846). The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 to regulate transcription (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:17761950, PubMed:28167758). The high affinity ligand for retinoid X receptors (RXRs) is 9-cis retinoic acid (PubMed:1310260). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:20215566). On ligand binding, the corepressors dissociate from the receptors and coactivators are recruited leading to transcriptional activation (PubMed:20215566, PubMed:37478846, PubMed:9267036). Serves as a common heterodimeric partner for a number of nuclear receptors, such as RARA, RARB and PPARA (PubMed:10195690, PubMed:11915042, PubMed:28167758, PubMed:29021580). The RXRA/RARB heterodimer can act as a transcriptional repressor or transcriptional activator, depending on the RARE DNA element context (PubMed:29021580). The RXRA/PPARA heterodimer is required for PPARA transcriptional activity on fatty acid oxidation genes such as ACOX1 and the P450 system genes (PubMed:10195690). Together with RARA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). Acts as an enhancer of RARA binding to RARE DNA element (PubMed:28167758). May facilitate the nuclear import of heterodimerization partners such as VDR and NR4A1 (PubMed:12145331, PubMed:15509776). Promotes myelin debris phagocytosis and remyelination by macrophages (PubMed:26463675). Plays a role in the attenuation of the innate immune system in response to viral infections, possibly by negatively regulating the transcription of antiviral genes such as type I IFN genes (PubMed:25417649). Involved in the regulation of calcium signaling by repressing ITPR2 gene expression, thereby controlling cellular senescence (PubMed:30216632). {ECO:0000269|PubMed:10195690, ECO:0000269|PubMed:10874028, ECO:0000269|PubMed:11162439, ECO:0000269|PubMed:11915042, ECO:0000269|PubMed:12145331, ECO:0000269|PubMed:1310260, ECO:0000269|PubMed:15509776, ECO:0000269|PubMed:16107141, ECO:0000269|PubMed:17761950, ECO:0000269|PubMed:18800767, ECO:0000269|PubMed:19167885, ECO:0000269|PubMed:20215566, ECO:0000269|PubMed:25417649, ECO:0000269|PubMed:26463675, ECO:0000269|PubMed:28167758, ECO:0000269|PubMed:29021580, ECO:0000269|PubMed:30216632, ECO:0000269|PubMed:37478846, ECO:0000269|PubMed:9267036}.
P23588 EIF4B S348 ochoa Eukaryotic translation initiation factor 4B (eIF-4B) Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'-terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F.
P25054 APC S293 ochoa Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5) Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. {ECO:0000250|UniProtKB:Q61315, ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:17293347, ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759, ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}.
P25054 APC S1219 ochoa Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5) Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. {ECO:0000250|UniProtKB:Q61315, ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:17293347, ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759, ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}.
P25054 APC S2022 ochoa Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5) Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. {ECO:0000250|UniProtKB:Q61315, ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:17293347, ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759, ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}.
P25054 APC T2567 ochoa Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5) Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. {ECO:0000250|UniProtKB:Q61315, ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:17293347, ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759, ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}.
P29475 NOS1 S852 ochoa|psp Nitric oxide synthase 1 (EC 1.14.13.39) (Constitutive NOS) (NC-NOS) (NOS type I) (Neuronal NOS) (N-NOS) (nNOS) (Nitric oxide synthase, brain) (bNOS) (Peptidyl-cysteine S-nitrosylase NOS1) Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR. {ECO:0000269|PubMed:35772285}.
P29475 NOS1 S859 ochoa Nitric oxide synthase 1 (EC 1.14.13.39) (Constitutive NOS) (NC-NOS) (NOS type I) (Neuronal NOS) (N-NOS) (nNOS) (Nitric oxide synthase, brain) (bNOS) (Peptidyl-cysteine S-nitrosylase NOS1) Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR. {ECO:0000269|PubMed:35772285}.
P30305 CDC25B S101 psp M-phase inducer phosphatase 2 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25B) Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression (PubMed:1836978, PubMed:20360007). Directly dephosphorylates CDK1 and stimulates its kinase activity (PubMed:20360007). Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner (PubMed:17332740). The three isoforms seem to have a different level of activity (PubMed:1836978). {ECO:0000269|PubMed:17332740, ECO:0000269|PubMed:1836978, ECO:0000269|PubMed:20360007}.
P30305 CDC25B S103 psp M-phase inducer phosphatase 2 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25B) Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression (PubMed:1836978, PubMed:20360007). Directly dephosphorylates CDK1 and stimulates its kinase activity (PubMed:20360007). Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner (PubMed:17332740). The three isoforms seem to have a different level of activity (PubMed:1836978). {ECO:0000269|PubMed:17332740, ECO:0000269|PubMed:1836978, ECO:0000269|PubMed:20360007}.
P30307 CDC25C S75 psp M-phase inducer phosphatase 3 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25C) Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle (PubMed:8119945). When phosphorylated, highly effective in activating G2 cells into prophase (PubMed:8119945). Directly dephosphorylates CDK1 and activates its kinase activity (PubMed:8119945). {ECO:0000269|PubMed:8119945}.
P30405 PPIF S39 ochoa Peptidyl-prolyl cis-trans isomerase F, mitochondrial (PPIase F) (EC 5.2.1.8) (Cyclophilin D) (CyP-D) (CypD) (Cyclophilin F) (Mitochondrial cyclophilin) (CyP-M) (Rotamase F) PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP) (PubMed:26387735). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated (PubMed:26387735). In cooperation with mitochondrial p53/TP53 is involved in activating oxidative stress-induced necrosis (PubMed:22726440). Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels (By similarity). Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis (PubMed:19228691). {ECO:0000250|UniProtKB:Q99KR7, ECO:0000269|PubMed:19228691, ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:26387735}.
P31270 HOXA11 S221 ochoa Homeobox protein Hox-A11 (Homeobox protein Hox-1I) Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
P31629 HIVEP2 S951 ochoa Transcription factor HIVEP2 (Human immunodeficiency virus type I enhancer-binding protein 2) (HIV-EP2) (MHC-binding protein 2) (MBP-2) This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.
P35125 USP6 S1174 ochoa Ubiquitin carboxyl-terminal hydrolase 6 (EC 3.4.19.12) (Deubiquitinating enzyme 6) (Proto-oncogene TRE-2) (RN-tre) (Ubiquitin thioesterase 6) (Ubiquitin-specific-processing protease 6) Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. May act as a GTPase-activating protein for RAB3A (PubMed:19077034). {ECO:0000269|PubMed:15509780, ECO:0000269|PubMed:16127172, ECO:0000269|PubMed:19077034, ECO:0000269|PubMed:20418905}.
P35414 APLNR S335 psp Apelin receptor (Angiotensin receptor-like 1) (G-protein coupled receptor APJ) (G-protein coupled receptor HG11) G protein-coupled receptor for peptide hormones apelin (APLN) and apelin receptor early endogenous ligand (APELA/ELA), that plays a role in the regulation of normal cardiovascular function and fluid homeostasis (PubMed:11090199, PubMed:22810587, PubMed:25639753, PubMed:28137936, PubMed:35817871, PubMed:38428423). When acting as apelin receptor, activates both G(i) protein pathway that inhibits adenylate cyclase activity, and the beta-arrestin pathway that promotes internalization of the receptor (PubMed:11090199, PubMed:25639753, PubMed:28137936, PubMed:35817871, PubMed:38428423). APLNR/APJ also functions as mechanoreceptor that is activated by pathological stimuli in a G-protein-independent fashion to induce beta-arrestin signaling, hence eliciting cardiac hypertrophy (PubMed:22810587, PubMed:38428423). However, the presence of apelin ligand blunts cardiac hypertrophic induction from APLNR/APJ on response to pathological stimuli (PubMed:22810587, PubMed:38428423). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a APELA receptor (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Also plays a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936). {ECO:0000250|UniProtKB:Q7SZP9, ECO:0000250|UniProtKB:Q9WV08, ECO:0000269|PubMed:11090199, ECO:0000269|PubMed:22810587, ECO:0000269|PubMed:25639753, ECO:0000269|PubMed:28137936, ECO:0000269|PubMed:35817871, ECO:0000269|PubMed:38428423}.; FUNCTION: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199). {ECO:0000269|PubMed:11090199}.
P35573 AGL S738 ochoa Glycogen debranching enzyme (Glycogen debrancher) [Includes: 4-alpha-glucanotransferase (EC 2.4.1.25) (Oligo-1,4-1,4-glucantransferase); Amylo-alpha-1,6-glucosidase (Amylo-1,6-glucosidase) (EC 3.2.1.33) (Dextrin 6-alpha-D-glucosidase)] Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
P35637 FUS S26 psp RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein) DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:21256132, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.
P35637 FUS S87 psp RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein) DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:21256132, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.
P35637 FUS S112 psp RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein) DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:21256132, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.
P35637 FUS S117 psp RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein) DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:21256132, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.
P35638 DDIT3 S82 psp DNA damage-inducible transcript 3 protein (DDIT-3) (C/EBP zeta) (C/EBP-homologous protein) (CHOP) (C/EBP-homologous protein 10) (CHOP-10) (CCAAT/enhancer-binding protein homologous protein) (Growth arrest and DNA damage-inducible protein GADD153) Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress (PubMed:15322075, PubMed:15775988). Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes (By similarity). Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes (By similarity). Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L (PubMed:15775988, PubMed:17709599, PubMed:20876114, PubMed:22761832). Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:18940792, PubMed:19672300, PubMed:20829347). Together with ATF4, mediates ER-mediated cell death by promoting expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the unfolded protein response (UPR) in response to ER stress (By similarity). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity (PubMed:16434966). Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response (By similarity). Acts as a major regulator of postnatal neovascularization through regulation of endothelial nitric oxide synthase (NOS3)-related signaling (By similarity). {ECO:0000250|UniProtKB:P35639, ECO:0000269|PubMed:15322075, ECO:0000269|PubMed:15775988, ECO:0000269|PubMed:16434966, ECO:0000269|PubMed:17709599, ECO:0000269|PubMed:18940792, ECO:0000269|PubMed:19672300, ECO:0000269|PubMed:20829347, ECO:0000269|PubMed:20876114, ECO:0000269|PubMed:22761832}.
P35670 ATP7B S340 psp Copper-transporting ATPase 2 (EC 7.2.2.8) (Copper pump 2) (Wilson disease-associated protein) [Cleaved into: WND/140 kDa] Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. {ECO:0000269|PubMed:18203200, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:26004889}.
P38935 IGHMBP2 S656 ochoa DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2) 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction (PubMed:19158098, PubMed:22999958, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19158098, PubMed:19299493). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). {ECO:0000250|UniProtKB:Q9EQN5, ECO:0000269|PubMed:19158098, ECO:0000269|PubMed:19299493, ECO:0000269|PubMed:22999958, ECO:0000269|PubMed:30218034, ECO:0000269|PubMed:8349627}.
P39880 CUX1 S1059 ochoa Homeobox protein cut-like 1 (CCAAT displacement protein) (CDP) (CDP/Cux p200) (Homeobox protein cux-1) [Cleaved into: CDP/Cux p110] Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator. {ECO:0000250|UniProtKB:P53564}.; FUNCTION: [CDP/Cux p110]: Plays a role in cell cycle progression, in particular at the G1/S transition. As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa. While CUX1 only transiently binds to DNA and carries the CCAAT-displacement activity, CDP/Cux p110 makes a stable interaction with DNA and stimulates expression of genes such as POLA1. {ECO:0000269|PubMed:15099520}.
P40425 PBX2 S330 ochoa Pre-B-cell leukemia transcription factor 2 (Homeobox protein PBX2) (Protein G17) Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1. {ECO:0000269|PubMed:12609849}.
P41161 ETV5 S97 ochoa ETS translocation variant 5 (Ets-related protein ERM) Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'. {ECO:0000269|PubMed:8152800}.
P41180 CASR S915 psp Extracellular calcium-sensing receptor (CaR) (CaSR) (hCasR) (Parathyroid cell calcium-sensing receptor 1) (PCaR1) G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:22789683, PubMed:23966241, PubMed:25104082, PubMed:25292184, PubMed:25766501, PubMed:26386835, PubMed:32817431, PubMed:33603117, PubMed:34194040, PubMed:34467854, PubMed:7759551, PubMed:8636323, PubMed:8702647, PubMed:8878438). Senses fluctuations in the circulating calcium concentration: activated by elevated circulating calcium, leading to decreased parathyroid hormone (PTH) secretion in parathyroid glands (By similarity). In kidneys, acts as a key regulator of renal tubular calcium resorption (By similarity). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G-proteins) and modulates the activity of downstream effectors (PubMed:38632411). CASR is coupled with different G(q)/G(11), G(i)/G(o)- or G(s)-classes of G-proteins depending on the context (PubMed:38632411). In the parathyroid and kidney, CASR signals through G(q)/G(11) and G(i)/G(o) G-proteins: G(q)/G(11) coupling activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers, while G(i)/G(o) coupling mediates inhibition of adenylate cyclase activity (PubMed:38632411, PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27386547, PubMed:27434672, PubMed:32817431, PubMed:33603117, PubMed:34194040). Acts as an activator of the NLRP3 inflammasome via G(i)/G(o)-mediated signaling: down-regulation of cyclic AMP (cAMP) relieving NLRP3 inhibition by cAMP (PubMed:32843625). Acts as a regulator of proton-sensing receptor GPR68 in a seesaw manner: CASR-mediated signaling inhibits GPR68 signaling in response to extracellular calcium, while GPR68 inhibits CASR in presence of extracellular protons (By similarity). {ECO:0000250|UniProtKB:P48442, ECO:0000250|UniProtKB:Q9QY96, ECO:0000269|PubMed:17555508, ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:21566075, ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:22789683, ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25104082, ECO:0000269|PubMed:25292184, ECO:0000269|PubMed:25766501, ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:27386547, ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:32817431, ECO:0000269|PubMed:32843625, ECO:0000269|PubMed:33603117, ECO:0000269|PubMed:34194040, ECO:0000269|PubMed:34467854, ECO:0000269|PubMed:38632411, ECO:0000269|PubMed:7759551, ECO:0000269|PubMed:8636323, ECO:0000269|PubMed:8702647, ECO:0000269|PubMed:8878438}.
P41586 ADCYAP1R1 S434 ochoa Pituitary adenylate cyclase-activating polypeptide type I receptor (PAC1 receptor) (PAC1R) (PACAP type I receptor) (PACAP-R-1) (PACAP-R1) G protein-coupled receptor activated by the neuropeptide pituitary adenylate cyclase-activating polypeptide (ADCYAP1/PACAP) (PubMed:32047270, PubMed:33715378, PubMed:35477937, PubMed:36385145). Binds both PACAP27 and PACAP38 bioactive peptides (PubMed:32047270, PubMed:35477937, PubMed:36385145). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. Activates cAMP-dependent pathway (PubMed:32047270, PubMed:33715378, PubMed:35477937, PubMed:36385145). May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract (PubMed:32047270, PubMed:33715378). {ECO:0000269|PubMed:32047270, ECO:0000269|PubMed:33715378, ECO:0000269|PubMed:35477937, ECO:0000269|PubMed:36385145}.
P46100 ATRX S1202 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}.
P46934 NEDD4 S467 ochoa E3 ubiquitin-protein ligase NEDD4 (EC 2.3.2.26) (Cell proliferation-inducing gene 53 protein) (HECT-type E3 ubiquitin transferase NEDD4) (Neural precursor cell expressed developmentally down-regulated protein 4) (NEDD-4) E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins (PubMed:19920177, PubMed:21399620, PubMed:23644597). Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes (By similarity). Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes (PubMed:21765395). Promotes ubiquitination of RAPGEF2 (PubMed:11598133). According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD (By similarity). Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development (By similarity). Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2 (PubMed:20086093). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Ubiquitinates DAZAP2, leading to its proteasomal degradation (PubMed:11342538). Ubiquitinates POLR2A (PubMed:19920177). Functions as a platform to recruit USP13 to form an NEDD4-USP13 deubiquitination complex that plays a critical role in cleaving the 'Lys-48'-linked ubiquitin chains of VPS34 and then stabilizing VPS34, thus promoting the formation of autophagosomes (PubMed:32101753). {ECO:0000250|UniProtKB:P46935, ECO:0000269|PubMed:11342538, ECO:0000269|PubMed:11598133, ECO:0000269|PubMed:17218260, ECO:0000269|PubMed:18562292, ECO:0000269|PubMed:21399620, ECO:0000269|PubMed:21765395, ECO:0000269|PubMed:23644597, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:32101753}.; FUNCTION: (Microbial infection) Involved in the ubiquitination of Ebola virus protein VP40 which plays a role in viral budding. {ECO:0000269|PubMed:12559917, ECO:0000269|PubMed:18305167}.
P47985 UQCRFS1 S99 ochoa Cytochrome b-c1 complex subunit Rieske, mitochondrial (EC 7.1.1.8) (Complex III subunit 5) (Cytochrome b-c1 complex subunit 5) (Rieske iron-sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol-cytochrome c reductase iron-sulfur subunit) [Cleaved into: Cytochrome b-c1 complex subunit 9 (Su9) (Subunit 9) (8 kDa subunit 9) (Complex III subunit IX) (Cytochrome b-c1 complex subunit 11) (UQCRFS1 mitochondrial targeting sequence) (UQCRFS1 MTS) (Ubiquinol-cytochrome c reductase 8 kDa protein)] [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation (PubMed:31883641). The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. The Rieske protein is a catalytic core subunit containing a [2Fe-2S] iron-sulfur cluster. It cycles between 2 conformational states during catalysis to transfer electrons from the quinol bound in the Q(0) site in cytochrome b to cytochrome c1 (By similarity). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544). {ECO:0000250|UniProtKB:P08067, ECO:0000269|PubMed:28673544, ECO:0000269|PubMed:31883641}.; FUNCTION: [Cytochrome b-c1 complex subunit 9]: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer. One of the fragments, called subunit 9, corresponds to its mitochondrial targeting sequence (MTS). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function. {ECO:0000269|PubMed:28673544}.
P48634 PRRC2A S1525 ochoa Protein PRRC2A (HLA-B-associated transcript 2) (Large proline-rich protein BAT2) (Proline-rich and coiled-coil-containing protein 2A) (Protein G2) May play a role in the regulation of pre-mRNA splicing. {ECO:0000269|PubMed:14667819}.
P49238 CX3CR1 S329 ochoa CX3C chemokine receptor 1 (C-X3-C CKR-1) (CX3CR1) (Beta chemokine receptor-like 1) (CMK-BRL-1) (CMK-BRL1) (Fractalkine receptor) (G-protein coupled receptor 13) (V28) Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:12055230, PubMed:23125415, PubMed:9390561, PubMed:9782118). CX3CR1-CX3CL1 signaling mediates cell migratory functions (By similarity). Responsible for the recruitment of natural killer (NK) cells to inflamed tissues (By similarity). Acts as a regulator of inflammation process leading to atherogenesis by mediating macrophage and monocyte recruitment to inflamed atherosclerotic plaques, promoting cell survival (By similarity). Involved in airway inflammation by promoting interleukin 2-producing T helper (Th2) cell survival in inflamed lung (By similarity). Involved in the migration of circulating monocytes to non-inflamed tissues, where they differentiate into macrophages and dendritic cells (By similarity). Acts as a negative regulator of angiogenesis, probably by promoting macrophage chemotaxis (PubMed:14581400, PubMed:18971423). Plays a key role in brain microglia by regulating inflammatory response in the central nervous system (CNS) and regulating synapse maturation (By similarity). Required to restrain the microglial inflammatory response in the CNS and the resulting parenchymal damage in response to pathological stimuli (By similarity). Involved in brain development by participating in synaptic pruning, a natural process during which brain microglia eliminates extra synapses during postnatal development (By similarity). Synaptic pruning by microglia is required to promote the maturation of circuit connectivity during brain development (By similarity). Acts as an important regulator of the gut microbiota by controlling immunity to intestinal bacteria and fungi (By similarity). Expressed in lamina propria dendritic cells in the small intestine, which form transepithelial dendrites capable of taking up bacteria in order to provide defense against pathogenic bacteria (By similarity). Required to initiate innate and adaptive immune responses against dissemination of commensal fungi (mycobiota) component of the gut: expressed in mononuclear phagocytes (MNPs) and acts by promoting induction of antifungal IgG antibodies response to confer protection against disseminated C.albicans or C.auris infection (PubMed:29326275). Also acts as a receptor for C-C motif chemokine CCL26, inducing cell chemotaxis (PubMed:20974991). {ECO:0000250|UniProtKB:Q9Z0D9, ECO:0000269|PubMed:12055230, ECO:0000269|PubMed:14581400, ECO:0000269|PubMed:18971423, ECO:0000269|PubMed:20974991, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:29326275, ECO:0000269|PubMed:9390561, ECO:0000269|PubMed:9782118}.; FUNCTION: [Isoform 1]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein. {ECO:0000269|PubMed:14607932, ECO:0000269|PubMed:9726990}.; FUNCTION: [Isoform 2]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein (PubMed:14607932). May have more potent HIV-1 coreceptothr activity than isoform 1 (PubMed:14607932). {ECO:0000269|PubMed:14607932}.; FUNCTION: [Isoform 3]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein (PubMed:14607932). May have more potent HIV-1 coreceptor activity than isoform 1 (PubMed:14607932). {ECO:0000269|PubMed:14607932}.
P49238 CX3CR1 S336 ochoa CX3C chemokine receptor 1 (C-X3-C CKR-1) (CX3CR1) (Beta chemokine receptor-like 1) (CMK-BRL-1) (CMK-BRL1) (Fractalkine receptor) (G-protein coupled receptor 13) (V28) Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:12055230, PubMed:23125415, PubMed:9390561, PubMed:9782118). CX3CR1-CX3CL1 signaling mediates cell migratory functions (By similarity). Responsible for the recruitment of natural killer (NK) cells to inflamed tissues (By similarity). Acts as a regulator of inflammation process leading to atherogenesis by mediating macrophage and monocyte recruitment to inflamed atherosclerotic plaques, promoting cell survival (By similarity). Involved in airway inflammation by promoting interleukin 2-producing T helper (Th2) cell survival in inflamed lung (By similarity). Involved in the migration of circulating monocytes to non-inflamed tissues, where they differentiate into macrophages and dendritic cells (By similarity). Acts as a negative regulator of angiogenesis, probably by promoting macrophage chemotaxis (PubMed:14581400, PubMed:18971423). Plays a key role in brain microglia by regulating inflammatory response in the central nervous system (CNS) and regulating synapse maturation (By similarity). Required to restrain the microglial inflammatory response in the CNS and the resulting parenchymal damage in response to pathological stimuli (By similarity). Involved in brain development by participating in synaptic pruning, a natural process during which brain microglia eliminates extra synapses during postnatal development (By similarity). Synaptic pruning by microglia is required to promote the maturation of circuit connectivity during brain development (By similarity). Acts as an important regulator of the gut microbiota by controlling immunity to intestinal bacteria and fungi (By similarity). Expressed in lamina propria dendritic cells in the small intestine, which form transepithelial dendrites capable of taking up bacteria in order to provide defense against pathogenic bacteria (By similarity). Required to initiate innate and adaptive immune responses against dissemination of commensal fungi (mycobiota) component of the gut: expressed in mononuclear phagocytes (MNPs) and acts by promoting induction of antifungal IgG antibodies response to confer protection against disseminated C.albicans or C.auris infection (PubMed:29326275). Also acts as a receptor for C-C motif chemokine CCL26, inducing cell chemotaxis (PubMed:20974991). {ECO:0000250|UniProtKB:Q9Z0D9, ECO:0000269|PubMed:12055230, ECO:0000269|PubMed:14581400, ECO:0000269|PubMed:18971423, ECO:0000269|PubMed:20974991, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:29326275, ECO:0000269|PubMed:9390561, ECO:0000269|PubMed:9782118}.; FUNCTION: [Isoform 1]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein. {ECO:0000269|PubMed:14607932, ECO:0000269|PubMed:9726990}.; FUNCTION: [Isoform 2]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein (PubMed:14607932). May have more potent HIV-1 coreceptothr activity than isoform 1 (PubMed:14607932). {ECO:0000269|PubMed:14607932}.; FUNCTION: [Isoform 3]: (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein (PubMed:14607932). May have more potent HIV-1 coreceptor activity than isoform 1 (PubMed:14607932). {ECO:0000269|PubMed:14607932}.
P49815 TSC2 S1217 psp Tuberin (Tuberous sclerosis 2 protein) Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:12172553, PubMed:12820960, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:33436626). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:35772404). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:12172553, PubMed:24529379). Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity). {ECO:0000250|UniProtKB:P49816, ECO:0000269|PubMed:12172553, ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:12820960, ECO:0000269|PubMed:12842888, ECO:0000269|PubMed:12906785, ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:22819219, ECO:0000269|PubMed:24529379, ECO:0000269|PubMed:28215400, ECO:0000269|PubMed:33436626, ECO:0000269|PubMed:35772404}.
P50548 ERF S363 ochoa ETS domain-containing transcription factor ERF (Ets2 repressor factor) (PE-2) Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity). {ECO:0000250}.
P51587 BRCA2 S193 psp Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein) Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). {ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15199141, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:20729832, ECO:0000269|PubMed:20729858, ECO:0000269|PubMed:20729859, ECO:0000269|PubMed:21084279, ECO:0000269|PubMed:21719596, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:24896180}.
P51587 BRCA2 S1982 ochoa Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein) Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). {ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15199141, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:20729832, ECO:0000269|PubMed:20729858, ECO:0000269|PubMed:20729859, ECO:0000269|PubMed:21084279, ECO:0000269|PubMed:21719596, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:24896180}.
P51813 BMX S251 ochoa Cytoplasmic tyrosine-protein kinase BMX (EC 2.7.10.2) (Bone marrow tyrosine kinase gene in chromosome X protein) (Epithelial and endothelial tyrosine kinase) (ETK) (NTK38) Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Also plays a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells. {ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:11331870, ECO:0000269|PubMed:12370298, ECO:0000269|PubMed:12832404, ECO:0000269|PubMed:15788485, ECO:0000269|PubMed:18292575, ECO:0000269|PubMed:9520419}.
P53804 TTC3 S429 ochoa E3 ubiquitin-protein ligase TTC3 (EC 2.3.2.27) (Protein DCRR1) (RING finger protein 105) (RING-type E3 ubiquitin transferase TTC3) (TPR repeat protein D) (Tetratricopeptide repeat protein 3) (TPR repeat protein 3) E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:20059950, PubMed:30696809). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus (PubMed:20059950). Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation (PubMed:20059950). Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 (PubMed:30696809). Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (PubMed:17488780, PubMed:24695496). Inhibits cell proliferation (PubMed:30203323). {ECO:0000269|PubMed:17488780, ECO:0000269|PubMed:20059950, ECO:0000269|PubMed:24695496, ECO:0000269|PubMed:30203323, ECO:0000269|PubMed:30696809}.
P54278 PMS2 S513 ochoa Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2) Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Possesses an ATPase activity, but in the absence of gross structural changes, ATP hydrolysis may not be necessary for proficient mismatch repair (PubMed:35189042). {ECO:0000269|PubMed:16873062, ECO:0000269|PubMed:18206974, ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:30653781, ECO:0000269|PubMed:35189042}.
P56373 P2RX3 S269 psp P2X purinoceptor 3 (P2X3) (ATP receptor) (Purinergic receptor) Extracellular ATP-activated non-selective cation channel (PubMed:10440098, PubMed:27626375, PubMed:29674445, PubMed:31232692). Plays particularly important role in sensory neurons where its activation is critical for gustatory, nociceptive responses, visceral reflexes and sensory hypersensitization (By similarity). {ECO:0000250|UniProtKB:Q3UR32, ECO:0000269|PubMed:10440098, ECO:0000269|PubMed:27626375, ECO:0000269|PubMed:29674445, ECO:0000269|PubMed:31232692}.
P78312 FAM193A S260 ochoa Protein FAM193A (Protein IT14) None
P78527 PRKDC S2023 psp DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (Ser-473 kinase) (S473K) (p460) Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234). Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234, PubMed:34352203). Must be bound to DNA to express its catalytic properties (PubMed:11955432). Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C) (PubMed:11955432). Recruited by XRCC5 and XRCC6 to DNA ends and is required to (1) protect and align broken ends of DNA, thereby preventing their degradation, (2) and sequester the DSB for repair by NHEJ (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326, PubMed:33854234). Acts as a scaffold protein to aid the localization of DNA repair proteins to the site of damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion (By similarity). Also involved in modulation of transcription (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). As part of the DNA-PK complex, involved in the early steps of ribosome assembly by promoting the processing of precursor rRNA into mature 18S rRNA in the small-subunit processome (PubMed:32103174). Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome (PubMed:32103174). Recognizes the substrate consensus sequence [ST]-Q (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). Phosphorylates 'Ser-139' of histone variant H2AX, thereby regulating DNA damage response mechanism (PubMed:14627815, PubMed:16046194). Phosphorylates ASF1A, DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, FH, SRF, NHEJ1/XLF, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2 (PubMed:10026262, PubMed:10467406, PubMed:11889123, PubMed:12509254, PubMed:14599745, PubMed:14612514, PubMed:14704337, PubMed:15177042, PubMed:1597196, PubMed:16397295, PubMed:18644470, PubMed:2247066, PubMed:2507541, PubMed:26237645, PubMed:26666690, PubMed:28712728, PubMed:29478807, PubMed:30247612, PubMed:8407951, PubMed:8464713, PubMed:9139719, PubMed:9362500). Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA (PubMed:9679063). Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D (PubMed:9363941). Acts as a regulator of the phosphatidylinositol 3-kinase/protein kinase B signal transduction by mediating phosphorylation of 'Ser-473' of protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), promoting their activation (PubMed:15262962). Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 'Ser-588' and increasing CRY1 protein stability, most likely through an indirect mechanism (By similarity). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Also regulates the cGAS-STING pathway by catalyzing phosphorylation of CGAS, thereby impairing CGAS oligomerization and activation (PubMed:33273464). Also regulates the cGAS-STING pathway by mediating phosphorylation of PARP1 (PubMed:35460603). {ECO:0000250|UniProtKB:P97313, ECO:0000269|PubMed:10026262, ECO:0000269|PubMed:10467406, ECO:0000269|PubMed:11889123, ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:12509254, ECO:0000269|PubMed:12649176, ECO:0000269|PubMed:14599745, ECO:0000269|PubMed:14612514, ECO:0000269|PubMed:14627815, ECO:0000269|PubMed:14704337, ECO:0000269|PubMed:14734805, ECO:0000269|PubMed:15177042, ECO:0000269|PubMed:15262962, ECO:0000269|PubMed:15574326, ECO:0000269|PubMed:1597196, ECO:0000269|PubMed:16046194, ECO:0000269|PubMed:16397295, ECO:0000269|PubMed:18644470, ECO:0000269|PubMed:2247066, ECO:0000269|PubMed:2507541, ECO:0000269|PubMed:26237645, ECO:0000269|PubMed:26666690, ECO:0000269|PubMed:28712728, ECO:0000269|PubMed:29478807, ECO:0000269|PubMed:30247612, ECO:0000269|PubMed:32103174, ECO:0000269|PubMed:33273464, ECO:0000269|PubMed:33854234, ECO:0000269|PubMed:34352203, ECO:0000269|PubMed:35460603, ECO:0000269|PubMed:8407951, ECO:0000269|PubMed:8464713, ECO:0000269|PubMed:9139719, ECO:0000269|PubMed:9362500, ECO:0000269|PubMed:9363941, ECO:0000269|PubMed:9679063}.
P82094 TMF1 S933 ochoa TATA element modulatory factor (TMF) (Androgen receptor coactivator 160 kDa protein) (Androgen receptor-associated protein of 160 kDa) Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP). {ECO:0000269|PubMed:10428808, ECO:0000269|PubMed:1409643, ECO:0000269|PubMed:15467733, ECO:0000269|PubMed:17698061}.
P98082 DAB2 S742 ochoa Disabled homolog 2 (Adaptor molecule disabled-2) (Differentially expressed in ovarian carcinoma 2) (DOC-2) (Differentially-expressed protein 2) Adapter protein that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor. {ECO:0000269|PubMed:11387212, ECO:0000269|PubMed:12805222, ECO:0000269|PubMed:16267015, ECO:0000269|PubMed:16984970, ECO:0000269|PubMed:19306879, ECO:0000269|PubMed:21995445, ECO:0000269|PubMed:22323290, ECO:0000269|PubMed:22491013}.
Q01538 MYT1 S716 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}.
Q01814 ATP2B2 S1201 ochoa Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2) ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems (PubMed:15829536, PubMed:17234811). Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment (PubMed:15829536, PubMed:17234811). Has fast activation and Ca(2+) clearance rate suited to control fast neuronal Ca(2+) dynamics. At parallel fiber to Purkinje neuron synapse, mediates presynaptic Ca(2+) efflux in response to climbing fiber-induced Ca(2+) rise. Provides for fast return of Ca(2+) concentrations back to their resting levels, ultimately contributing to long-term depression induction and motor learning (By similarity). Plays an essential role in hearing and balance (PubMed:15829536, PubMed:17234811). In cochlear hair cells, shuttles Ca(2+) ions from stereocilia to the endolymph and dissipates Ca(2+) transients generated by the opening of the mechanoelectrical transduction channels. Regulates Ca(2+) levels in the vestibular system, where it contributes to the formation of otoconia (PubMed:15829536, PubMed:17234811). In non-excitable cells, regulates Ca(2+) signaling through spatial control of Ca(2+) ions extrusion and dissipation of Ca(2+) transients generated by store-operated channels (PubMed:25690014). In lactating mammary gland, allows for the high content of Ca(2+) ions in the milk (By similarity). {ECO:0000250|UniProtKB:Q9R0K7, ECO:0000269|PubMed:15829536, ECO:0000269|PubMed:17234811, ECO:0000269|PubMed:25690014}.
Q01974 ROR2 S776 ochoa Tyrosine-protein kinase transmembrane receptor ROR2 (EC 2.7.10.1) (Neurotrophic tyrosine kinase, receptor-related 2) Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443). {ECO:0000250|UniProtKB:Q9Z138, ECO:0000269|PubMed:17717073, ECO:0000269|PubMed:25029443}.
Q02930 CREB5 S137 ochoa Cyclic AMP-responsive element-binding protein 5 (CREB-5) (cAMP-responsive element-binding protein 5) (cAMP-response element-binding protein A) (CRE-BPa) Binds to the cAMP response element and activates transcription. {ECO:0000269|PubMed:8378084}.
Q03164 KMT2A S459 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}.
Q04727 TLE4 S301 ochoa Transducin-like enhancer protein 4 (Grg-4) (Groucho-related protein 4) Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity). Involved in transcriptional repression of GNRHR and enhances MSX1-mediated transcriptional repression of CGA/alpha-GSU (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q62441}.
Q05209 PTPN12 S491 ochoa Tyrosine-protein phosphatase non-receptor type 12 (EC 3.1.3.48) (PTP-PEST) (Protein-tyrosine phosphatase G1) (PTPG1) Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades (PubMed:18559503). Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 (PubMed:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' (PubMed:27134172). {ECO:0000269|PubMed:17329398, ECO:0000269|PubMed:18559503, ECO:0000269|PubMed:27134172}.
Q06710 PAX8 S212 ochoa Paired box protein Pax-8 Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Q08378 GOLGA3 S315 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.
Q08378 GOLGA3 S317 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.
Q08AD1 CAMSAP2 S715 ochoa Calmodulin-regulated spectrin-associated protein 2 (Calmodulin-regulated spectrin-associated protein 1-like protein 1) Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242). {ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28726242}.
Q08AD1 CAMSAP2 S716 ochoa Calmodulin-regulated spectrin-associated protein 2 (Calmodulin-regulated spectrin-associated protein 1-like protein 1) Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242). {ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28726242}.
Q0IIM8 TBC1D8B S1035 ochoa TBC1 domain family member 8B Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein. {ECO:0000269|PubMed:30661770}.
Q10571 MN1 S1034 ochoa Transcriptional activator MN1 (Probable tumor suppressor protein MN1) Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable). {ECO:0000250|UniProtKB:D3YWE6, ECO:0000305|PubMed:7731706}.
Q12830 BPTF S1765 ochoa Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen) Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:14609955, PubMed:28801535). The NURF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NURF-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NURF-1 ISWI chromatin-remodeling complex, binds to the promoters of En1 and En2 to positively regulate their expression and promote brain development (PubMed:14609955). Histone-binding protein which binds to H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of active genes (PubMed:16728976, PubMed:16728978). Binds to histone H3 tails dimethylated on 'Lys-4' (H3K4Me2) to a lesser extent (PubMed:16728976, PubMed:16728978, PubMed:18042461). May also regulate transcription through direct binding to DNA or transcription factors (PubMed:10575013). {ECO:0000269|PubMed:10575013, ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:16728976, ECO:0000269|PubMed:16728978, ECO:0000269|PubMed:18042461, ECO:0000269|PubMed:28801535}.
Q12830 BPTF S2060 ochoa Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen) Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:14609955, PubMed:28801535). The NURF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NURF-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NURF-1 ISWI chromatin-remodeling complex, binds to the promoters of En1 and En2 to positively regulate their expression and promote brain development (PubMed:14609955). Histone-binding protein which binds to H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of active genes (PubMed:16728976, PubMed:16728978). Binds to histone H3 tails dimethylated on 'Lys-4' (H3K4Me2) to a lesser extent (PubMed:16728976, PubMed:16728978, PubMed:18042461). May also regulate transcription through direct binding to DNA or transcription factors (PubMed:10575013). {ECO:0000269|PubMed:10575013, ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:16728976, ECO:0000269|PubMed:16728978, ECO:0000269|PubMed:18042461, ECO:0000269|PubMed:28801535}.
Q12948 FOXC1 S262 ochoa Forkhead box protein C1 (Forkhead-related protein FKHL7) (Forkhead-related transcription factor 3) (FREAC-3) DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:15299087, PubMed:15684392, PubMed:16449236, PubMed:16492674, PubMed:17210863, PubMed:19279310, PubMed:19793056, PubMed:25786029, PubMed:27804176, PubMed:27907090). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176, PubMed:7957066). Upon DNA-binding, promotes DNA bending (PubMed:14506133, PubMed:7957066). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Also acts as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963). {ECO:0000250|UniProtKB:Q61572, ECO:0000269|PubMed:11782474, ECO:0000269|PubMed:12408963, ECO:0000269|PubMed:12533514, ECO:0000269|PubMed:14506133, ECO:0000269|PubMed:14578375, ECO:0000269|PubMed:15277473, ECO:0000269|PubMed:15299087, ECO:0000269|PubMed:15684392, ECO:0000269|PubMed:16449236, ECO:0000269|PubMed:16492674, ECO:0000269|PubMed:17210863, ECO:0000269|PubMed:17993506, ECO:0000269|PubMed:19279310, ECO:0000269|PubMed:19793056, ECO:0000269|PubMed:20406990, ECO:0000269|PubMed:22991501, ECO:0000269|PubMed:25786029, ECO:0000269|PubMed:26565916, ECO:0000269|PubMed:27804176, ECO:0000269|PubMed:27907090, ECO:0000269|PubMed:7957066}.
Q12968 NFATC3 S165 ochoa|psp Nuclear factor of activated T-cells, cytoplasmic 3 (NF-ATc3) (NFATc3) (NFATx) (T-cell transcription factor NFAT4) (NF-AT4) (NF-AT4c) Acts as a regulator of transcriptional activation. Binds to the TNFSF11/RANKL promoter region and promotes TNFSF11 transcription (By similarity). Binding to the TNFSF11 promoter region is increased by high levels of Ca(2+) which induce NFATC3 expression and may lead to regulation of TNFSF11 expression in osteoblasts (By similarity). Plays a role in promoting mesenteric arterial wall remodeling in response to the intermittent hypoxia-induced increase in EDN1 and ROCK signaling (By similarity). As a result NFATC3 colocalizes with F-actin filaments, translocates to the nucleus and promotes transcription of the smooth muscle hypertrophy and differentiation marker ACTA2 (By similarity). Promotes lipopolysaccharide-induced apoptosis and hypertrophy in cardiomyocytes (By similarity). Following JAK/STAT signaling activation and as part of a complex with NFATC4 and STAT3, binds to the alpha-beta E4 promoter region of CRYAB and activates transcription in cardiomyocytes (By similarity). In conjunction with NFATC4, involved in embryonic heart development via maintenance of cardiomyocyte survival, proliferation and differentiation (By similarity). Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 (PubMed:18815128). Required for thymocyte maturation during DN3 to DN4 transition and during positive selection (By similarity). Positively regulates macrophage-derived polymicrobial clearance, via binding to the promoter region and promoting transcription of NOS2 resulting in subsequent generation of nitric oxide (By similarity). Involved in Ca(2+)-mediated transcriptional responses upon Ca(2+) influx via ORAI1 CRAC channels. {ECO:0000250|UniProtKB:A0A0G2JTY4, ECO:0000250|UniProtKB:P97305, ECO:0000269|PubMed:18815128, ECO:0000269|PubMed:32415068}.
Q13107 USP4 S244 ochoa Ubiquitin carboxyl-terminal hydrolase 4 (EC 3.4.19.12) (Deubiquitinating enzyme 4) (Ubiquitin thioesterase 4) (Ubiquitin-specific-processing protease 4) (Ubiquitous nuclear protein homolog) Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16339847, PubMed:16472766, PubMed:20595234, PubMed:22347420, PubMed:25404403, PubMed:28604766, PubMed:30514904). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). Deubiquitinates HAS2 (PubMed:28604766). Deubiquitinates RHEB in response to EGF signaling, promoting mTORC1 signaling (PubMed:30514904). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847). {ECO:0000269|PubMed:16316627, ECO:0000269|PubMed:16339847, ECO:0000269|PubMed:16472766, ECO:0000269|PubMed:20595234, ECO:0000269|PubMed:22347420, ECO:0000269|PubMed:25404403, ECO:0000269|PubMed:28604766, ECO:0000269|PubMed:30514904}.
Q13492 PICALM S450 ochoa Phosphatidylinositol-binding clathrin assembly protein (Clathrin assembly lymphoid myeloid leukemia protein) Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:21808019, PubMed:22118466, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:24067654, PubMed:25241929). {ECO:0000269|PubMed:10436022, ECO:0000269|PubMed:16262731, ECO:0000269|PubMed:21808019, ECO:0000269|PubMed:22118466, ECO:0000269|PubMed:23741335, ECO:0000269|PubMed:24067654, ECO:0000269|PubMed:25241929, ECO:0000269|PubMed:25898166, ECO:0000269|PubMed:27574975}.
Q13615 MTMR3 S1173 ochoa Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR3 (EC 3.1.3.95) (FYVE domain-containing dual specificity protein phosphatase 1) (FYVE-DSP1) (Myotubularin-related protein 3) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (Phosphatidylinositol-3-phosphate phosphatase) (Zinc finger FYVE domain-containing protein 10) Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:10733931, PubMed:11302699, PubMed:11676921, PubMed:12646134). Decreases the levels of phosphatidylinositol 3-phosphate, a phospholipid found in cell membranes where it acts as key regulator of both cell signaling and intracellular membrane traffic (PubMed:11302699, PubMed:11676921, PubMed:12646134). Could also have a molecular sequestering/adapter activity and regulate biological processes independently of its phosphatase activity. It includes the regulation of midbody abscission during mitotic cytokinesis (PubMed:25659891). {ECO:0000269|PubMed:10733931, ECO:0000269|PubMed:11302699, ECO:0000269|PubMed:11676921, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:25659891}.
Q13835 PKP1 S84 psp Plakophilin-1 (Band 6 protein) (B6P) A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:23444369). Plays a role in desmosome protein expression regulation and localization to the desmosomal plaque, thereby maintaining cell sheet integrity and anchorage of desmosomes to intermediate filaments (PubMed:10852826, PubMed:23444369). Required for localization of DSG3 and YAP1 to the cell membrane in keratinocytes in response to mechanical strain, via the formation of an interaction complex composed of DSG3, YAP1, PKP1 and YWHAG (PubMed:31835537). Positively regulates differentiation of keratinocytes, potentially via promoting localization of DSG1 at desmosome cell junctions (By similarity). Required for calcium-independent development and maturation of desmosome plaques specifically at lateral cell-cell contacts in differentiating keratinocytes (By similarity). Plays a role in the maintenance of DSG3 protein abundance, DSG3 clustering and localization of these clusters to the cell membrane in keratinocytes (By similarity). May also promote keratinocyte proliferation and morphogenesis during postnatal development (PubMed:9326952). Required for tight junction inside-out transepidermal barrier function of the skin (By similarity). Promotes Wnt-mediated proliferation and differentiation of ameloblasts, via facilitating TJP1/ZO-1 localization to tight junctions (By similarity). Binds single-stranded DNA (ssDNA), and may thereby play a role in sensing DNA damage and promoting cell survival (PubMed:20613778). Positively regulates cap-dependent translation and as a result cell proliferation, via recruitment of EIF4A1 to the initiation complex and promotion of EIF4A1 ATPase activity (PubMed:20156963, PubMed:23444369). Regulates the mRNA stability and protein abundance of desmosome components PKP2, PKP3, DSC2 and DSP, potentially via its interaction with FXR1 (PubMed:25225333). {ECO:0000250|UniProtKB:P97350, ECO:0000269|PubMed:10852826, ECO:0000269|PubMed:20156963, ECO:0000269|PubMed:20613778, ECO:0000269|PubMed:23444369, ECO:0000269|PubMed:25225333, ECO:0000269|PubMed:31835537, ECO:0000269|PubMed:9326952}.
Q13946 PDE7A S28 ochoa High affinity 3',5'-cyclic-AMP phosphodiesterase 7A (EC 3.1.4.53) (HCP1) (TM22) (cAMP-specific phosphodiesterase 7A) Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:19350606, PubMed:8389765, PubMed:9195912). May have a role in muscle signal transduction (PubMed:9195912). {ECO:0000269|PubMed:19350606, ECO:0000269|PubMed:8389765, ECO:0000269|PubMed:9195912}.
Q13950 RUNX2 S28 ochoa|psp Runt-related transcription factor 2 (Acute myeloid leukemia 3 protein) (Core-binding factor subunit alpha-1) (CBF-alpha-1) (Oncogene AML-3) (Osteoblast-specific transcription factor 2) (OSF-2) (Polyomavirus enhancer-binding protein 2 alpha A subunit) (PEA2-alpha A) (PEBP2-alpha A) (SL3-3 enhancer factor 1 alpha A subunit) (SL3/AKV core-binding factor alpha A subunit) Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation. {ECO:0000250, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062}.
Q14541 HNF4G S121 ochoa Hepatocyte nuclear factor 4-gamma (HNF-4-gamma) (Nuclear receptor subfamily 2 group A member 2) Transcription factor. Has a lower transcription activation potential than HNF4-alpha.
Q14678 KANK1 S242 ochoa KN motif and ankyrin repeat domain-containing protein 1 (Ankyrin repeat domain-containing protein 15) (Kidney ankyrin repeat-containing protein) Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis (PubMed:22084092, PubMed:24120883). At focal adhesions (FAs) rims, organizes cortical microtubule stabilizing complexes (CMSCs) and directly interacts with major FA component TLN1, forming macromolecular assemblies positioned to control microtubule-actin crosstalk at the cell edge (PubMed:24120883, PubMed:27410476). Recruits KIF21A in CMSCs at axonal growth cones and regulates axon guidance by suppressing microtubule growth without inducing microtubule disassembly once it reaches the cell cortex (PubMed:24120883). Interacts with ARFGEF1 and participates in establishing microtubule-organizing center (MTOC) orientation and directed cell movement in wound healing (PubMed:22084092). Regulates actin stress fiber formation and cell migration by inhibiting RHOA activation in response to growth factors; this function involves phosphorylation through PI3K/Akt signaling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:18458160, PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; this function may depend on the competitive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; this function is partially mediated by BAIAP2 (PubMed:19171758). In the nucleus, is involved in beta-catenin-dependent activation of transcription (PubMed:16968744). During cell division, may regulate DAAM1-dependent RHOA activation that signals centrosome maturation and chromosomal segregation. May also be involved in contractile ring formation during cytokinesis (By similarity). Potential tumor suppressor for renal cell carcinoma (Probable). {ECO:0000250|UniProtKB:E9Q238, ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160, ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092, ECO:0000269|PubMed:24120883, ECO:0000269|PubMed:25961457, ECO:0000269|PubMed:27410476, ECO:0000305|PubMed:12133830}.
Q14678 KANK1 S916 ochoa KN motif and ankyrin repeat domain-containing protein 1 (Ankyrin repeat domain-containing protein 15) (Kidney ankyrin repeat-containing protein) Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis (PubMed:22084092, PubMed:24120883). At focal adhesions (FAs) rims, organizes cortical microtubule stabilizing complexes (CMSCs) and directly interacts with major FA component TLN1, forming macromolecular assemblies positioned to control microtubule-actin crosstalk at the cell edge (PubMed:24120883, PubMed:27410476). Recruits KIF21A in CMSCs at axonal growth cones and regulates axon guidance by suppressing microtubule growth without inducing microtubule disassembly once it reaches the cell cortex (PubMed:24120883). Interacts with ARFGEF1 and participates in establishing microtubule-organizing center (MTOC) orientation and directed cell movement in wound healing (PubMed:22084092). Regulates actin stress fiber formation and cell migration by inhibiting RHOA activation in response to growth factors; this function involves phosphorylation through PI3K/Akt signaling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:18458160, PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; this function may depend on the competitive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; this function is partially mediated by BAIAP2 (PubMed:19171758). In the nucleus, is involved in beta-catenin-dependent activation of transcription (PubMed:16968744). During cell division, may regulate DAAM1-dependent RHOA activation that signals centrosome maturation and chromosomal segregation. May also be involved in contractile ring formation during cytokinesis (By similarity). Potential tumor suppressor for renal cell carcinoma (Probable). {ECO:0000250|UniProtKB:E9Q238, ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160, ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092, ECO:0000269|PubMed:24120883, ECO:0000269|PubMed:25961457, ECO:0000269|PubMed:27410476, ECO:0000305|PubMed:12133830}.
Q14679 TTLL4 S207 ochoa Tubulin monoglutamylase TTLL4 (EC 6.3.2.-) (Protein monoglutamylase TTLL4) (Tubulin--tyrosine ligase-like protein 4) Monoglutamylase which modifies both tubulin and non-tubulin proteins, adding a single glutamate on the gamma-carboxyl group of specific glutamate residues of target proteins. Involved in the side-chain initiation step of the polyglutamylation reaction but not in the elongation step. Preferentially modifies beta-tail tubulin over the alpha-tubulin. Monoglutamylates nucleosome assembly proteins NAP1L1 and NAP1L4. Monoglutamylates nucleotidyltransferase CGAS, leading to inhibition of CGAS catalytic activity, thereby preventing antiviral defense function. Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis. {ECO:0000250|UniProtKB:Q80UG8}.
Q14679 TTLL4 S912 psp Tubulin monoglutamylase TTLL4 (EC 6.3.2.-) (Protein monoglutamylase TTLL4) (Tubulin--tyrosine ligase-like protein 4) Monoglutamylase which modifies both tubulin and non-tubulin proteins, adding a single glutamate on the gamma-carboxyl group of specific glutamate residues of target proteins. Involved in the side-chain initiation step of the polyglutamylation reaction but not in the elongation step. Preferentially modifies beta-tail tubulin over the alpha-tubulin. Monoglutamylates nucleosome assembly proteins NAP1L1 and NAP1L4. Monoglutamylates nucleotidyltransferase CGAS, leading to inhibition of CGAS catalytic activity, thereby preventing antiviral defense function. Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis. {ECO:0000250|UniProtKB:Q80UG8}.
Q14686 NCOA6 S1800 ochoa Nuclear receptor coactivator 6 (Activating signal cointegrator 2) (ASC-2) (Amplified in breast cancer protein 3) (Cancer-amplified transcriptional coactivator ASC-2) (Nuclear receptor coactivator RAP250) (NRC RAP250) (Nuclear receptor-activating protein, 250 kDa) (Peroxisome proliferator-activated receptor-interacting protein) (PPAR-interacting protein) (PRIP) (Thyroid hormone receptor-binding protein) Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins.
Q14872 MTF1 S609 ochoa Metal regulatory transcription factor 1 (MRE-binding transcription factor) (Transcription factor MTF-1) Zinc-dependent transcriptional regulator of cellular adaption to conditions of exposure to heavy metals (PubMed:8065932). Binds to metal responsive elements (MRE) in promoters and activates the transcription of metallothionein genes like metallothionein-2/MT2A (PubMed:8065932). Also regulates the expression of metalloproteases in response to intracellular zinc and functions as a catabolic regulator of cartilages (By similarity). {ECO:0000250|UniProtKB:Q07243, ECO:0000269|PubMed:8065932}.
Q14978 NOLC1 S220 ochoa Nucleolar and coiled-body phosphoprotein 1 (140 kDa nucleolar phosphoprotein) (Nopp140) (Hepatitis C virus NS5A-transactivated protein 13) (HCV NS5A-transactivated protein 13) (Nucleolar 130 kDa protein) (Nucleolar phosphoprotein p130) Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786). {ECO:0000269|PubMed:10567578, ECO:0000269|PubMed:26399832, ECO:0000269|PubMed:9016786}.
Q14978 NOLC1 S221 ochoa Nucleolar and coiled-body phosphoprotein 1 (140 kDa nucleolar phosphoprotein) (Nopp140) (Hepatitis C virus NS5A-transactivated protein 13) (HCV NS5A-transactivated protein 13) (Nucleolar 130 kDa protein) (Nucleolar phosphoprotein p130) Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786). {ECO:0000269|PubMed:10567578, ECO:0000269|PubMed:26399832, ECO:0000269|PubMed:9016786}.
Q14978 NOLC1 S362 ochoa Nucleolar and coiled-body phosphoprotein 1 (140 kDa nucleolar phosphoprotein) (Nopp140) (Hepatitis C virus NS5A-transactivated protein 13) (HCV NS5A-transactivated protein 13) (Nucleolar 130 kDa protein) (Nucleolar phosphoprotein p130) Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786). {ECO:0000269|PubMed:10567578, ECO:0000269|PubMed:26399832, ECO:0000269|PubMed:9016786}.
Q14978 NOLC1 S516 ochoa Nucleolar and coiled-body phosphoprotein 1 (140 kDa nucleolar phosphoprotein) (Nopp140) (Hepatitis C virus NS5A-transactivated protein 13) (HCV NS5A-transactivated protein 13) (Nucleolar 130 kDa protein) (Nucleolar phosphoprotein p130) Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786). {ECO:0000269|PubMed:10567578, ECO:0000269|PubMed:26399832, ECO:0000269|PubMed:9016786}.
Q15058 KIF14 S21 ochoa Kinesin-like protein KIF14 Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis (PubMed:16648480, PubMed:24784001). During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively (PubMed:16431929). Regulates cell growth through regulation of cell cycle progression and cytokinesis (PubMed:24854087). During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic process which controls CDKN1B degradation, resulting in positive regulation of cyclins, including CCNE1, CCND1 and CCNB1 (PubMed:24854087). During late neurogenesis, regulates the cerebellar, cerebral cortex and olfactory bulb development through regulation of apoptosis, cell proliferation and cell division (By similarity). Also is required for chromosome congression and alignment during mitotic cell cycle process (PubMed:15843429). Regulates cell spreading, focal adhesion dynamics, and cell migration through its interaction with RADIL resulting in regulation of RAP1A-mediated inside-out integrin activation by tethering RADIL on microtubules (PubMed:23209302). {ECO:0000250|UniProtKB:L0N7N1, ECO:0000269|PubMed:15843429, ECO:0000269|PubMed:16431929, ECO:0000269|PubMed:16648480, ECO:0000269|PubMed:23209302, ECO:0000269|PubMed:24784001, ECO:0000269|PubMed:24854087}.
Q15149 PLEC S4657 ochoa Plectin (PCN) (PLTN) (Hemidesmosomal protein 1) (HD1) (Plectin-1) Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity. {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:21109228}.
Q15345 LRRC41 S369 ochoa Leucine-rich repeat-containing protein 41 (Protein Muf1) Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000269|PubMed:15601820}.
Q15596 NCOA2 S716 ochoa Nuclear receptor coactivator 2 (NCoA-2) (Class E basic helix-loop-helix protein 75) (bHLHe75) (Transcriptional intermediary factor 2) (hTIF2) Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:23508108, PubMed:8670870, PubMed:9430642, PubMed:22504882, PubMed:26553876). Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1) (PubMed:23508108, PubMed:8670870, PubMed:9430642). Required with NCOA1 to control energy balance between white and brown adipose tissues (PubMed:23508108, PubMed:8670870, PubMed:9430642). Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression (PubMed:23508108, PubMed:8670870, PubMed:9430642). Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3 (PubMed:23508108). Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer (By similarity). {ECO:0000250|UniProtKB:Q61026, ECO:0000269|PubMed:22504882, ECO:0000269|PubMed:23508108, ECO:0000269|PubMed:26553876, ECO:0000269|PubMed:8670870, ECO:0000269|PubMed:9430642}.
Q15648 MED1 S1536 ochoa Mediator of RNA polymerase II transcription subunit 1 (Activator-recruited cofactor 205 kDa component) (ARC205) (Mediator complex subunit 1) (Peroxisome proliferator-activated receptor-binding protein) (PBP) (PPAR-binding protein) (Thyroid hormone receptor-associated protein complex 220 kDa component) (Trap220) (Thyroid receptor-interacting protein 2) (TR-interacting protein 2) (TRIP-2) (Vitamin D receptor-interacting protein complex component DRIP205) (p53 regulatory protein RB18A) Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (PubMed:10406464, PubMed:11867769, PubMed:12037571, PubMed:12218053, PubMed:12556447, PubMed:14636573, PubMed:15340084, PubMed:15471764, PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as a coactivator for GATA1-mediated transcriptional activation during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). {ECO:0000269|PubMed:10406464, ECO:0000269|PubMed:11867769, ECO:0000269|PubMed:12037571, ECO:0000269|PubMed:12218053, ECO:0000269|PubMed:12556447, ECO:0000269|PubMed:14636573, ECO:0000269|PubMed:15340084, ECO:0000269|PubMed:15471764, ECO:0000269|PubMed:15989967, ECO:0000269|PubMed:16574658, ECO:0000269|PubMed:24245781, ECO:0000269|PubMed:9653119}.
Q15751 HERC1 S133 ochoa Probable E3 ubiquitin-protein ligase HERC1 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 1) (HECT-type E3 ubiquitin transferase HERC1) (p532) (p619) Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. {ECO:0000269|PubMed:15642342, ECO:0000269|PubMed:8861955, ECO:0000269|PubMed:9233772}.
Q16531 DDB1 S764 ochoa DNA damage-binding protein 1 (DDB p127 subunit) (DNA damage-binding protein a) (DDBa) (Damage-specific DNA-binding protein 1) (HBV X-associated protein 1) (XAP-1) (UV-damaged DNA-binding factor) (UV-damaged DNA-binding protein 1) (UV-DDB 1) (XPE-binding factor) (XPE-BF) (Xeroderma pigmentosum group E-complementing protein) (XPCe) Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:14739464, PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16407252, PubMed:16482215, PubMed:16940174, PubMed:17079684). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:25043012, PubMed:25108355, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:25043012, PubMed:25108355). DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16473935, PubMed:16678110, PubMed:17041588, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16473935, PubMed:16678110, PubMed:17041588, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication (PubMed:17041588). DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) (PubMed:12732143, PubMed:32355176, PubMed:38316879). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity). By acting on TET dioxygenses, essential for oocyte maintenance at the primordial follicle stage, hence essential for female fertility (By similarity). Maternal factor required for proper zygotic genome activation and genome reprogramming (By similarity). {ECO:0000250|UniProtKB:Q3U1J4, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:14739464, ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16407242, ECO:0000269|PubMed:16407252, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16482215, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:16940174, ECO:0000269|PubMed:17041588, ECO:0000269|PubMed:17079684, ECO:0000269|PubMed:18332868, ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:19966799, ECO:0000269|PubMed:22118460, ECO:0000269|PubMed:25043012, ECO:0000269|PubMed:25108355, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:28886238, ECO:0000269|PubMed:32355176, ECO:0000269|PubMed:38316879}.
Q16649 NFIL3 S182 ochoa Nuclear factor interleukin-3-regulated protein (E4 promoter-binding protein 4) (Interleukin-3 promoter transcriptional activator) (Interleukin-3-binding protein 1) (Transcriptional activator NF-IL3A) Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for the same consensus-binding site with PAR DNA-binding factors (DBP, HLF and TEF) (By similarity). Component of the circadian clock that acts as a negative regulator for the circadian expression of PER2 oscillation in the cell-autonomous core clock (By similarity). Protects pro-B cells from programmed cell death (By similarity). Represses the transcription of CYP2A5 (By similarity). Positively regulates the expression and activity of CES2 by antagonizing the repressive action of NR1D1 on CES2 (By similarity). Required for the development of natural killer cell precursors (By similarity). {ECO:0000250|UniProtKB:O08750, ECO:0000269|PubMed:1620116, ECO:0000269|PubMed:7565758, ECO:0000269|PubMed:8836190}.
Q16666 IFI16 T434 ochoa Gamma-interferon-inducible protein 16 (Ifi-16) (Interferon-inducible myeloid differentiation transcriptional activator) Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. {ECO:0000269|PubMed:11146555, ECO:0000269|PubMed:12894224, ECO:0000269|PubMed:14654789, ECO:0000269|PubMed:20890285, ECO:0000269|PubMed:21573174, ECO:0000269|PubMed:21575908, ECO:0000269|PubMed:22046441, ECO:0000269|PubMed:22291595, ECO:0000269|PubMed:23027953, ECO:0000269|PubMed:24198334, ECO:0000269|PubMed:24413532, ECO:0000269|PubMed:9642285}.; FUNCTION: [Isoform IFI16-beta]: Isoform that specifically inhibits the AIM2 inflammasome (PubMed:30104205). Binds double-stranded DNA (dsDNA) in the cytoplasm, impeding its detection by AIM2 (PubMed:30104205). Also prevents the interaction between AIM2 and PYCARD/ASC via its interaction with AIM2, thereby inhibiting assembly of the AIM2 inflammasome (PubMed:30104205). This isoform also weakly induce production of type I interferon-beta (IFNB1) via its interaction with STING1 (PubMed:30104205). {ECO:0000269|PubMed:30104205}.
Q16666 IFI16 S546 ochoa Gamma-interferon-inducible protein 16 (Ifi-16) (Interferon-inducible myeloid differentiation transcriptional activator) Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. {ECO:0000269|PubMed:11146555, ECO:0000269|PubMed:12894224, ECO:0000269|PubMed:14654789, ECO:0000269|PubMed:20890285, ECO:0000269|PubMed:21573174, ECO:0000269|PubMed:21575908, ECO:0000269|PubMed:22046441, ECO:0000269|PubMed:22291595, ECO:0000269|PubMed:23027953, ECO:0000269|PubMed:24198334, ECO:0000269|PubMed:24413532, ECO:0000269|PubMed:9642285}.; FUNCTION: [Isoform IFI16-beta]: Isoform that specifically inhibits the AIM2 inflammasome (PubMed:30104205). Binds double-stranded DNA (dsDNA) in the cytoplasm, impeding its detection by AIM2 (PubMed:30104205). Also prevents the interaction between AIM2 and PYCARD/ASC via its interaction with AIM2, thereby inhibiting assembly of the AIM2 inflammasome (PubMed:30104205). This isoform also weakly induce production of type I interferon-beta (IFNB1) via its interaction with STING1 (PubMed:30104205). {ECO:0000269|PubMed:30104205}.
Q16821 PPP1R3A S375 ochoa Protein phosphatase 1 regulatory subunit 3A (Protein phosphatase 1 glycogen-associated regulatory subunit) (Protein phosphatase type-1 glycogen targeting subunit) (RG1) Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity). {ECO:0000250}.
Q16875 PFKFB3 S269 psp 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (6PF-2-K/Fru-2,6-P2ase 3) (PFK/FBPase 3) (6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme) (Renal carcinoma antigen NY-REN-56) (iPFK-2) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)] Catalyzes both the synthesis and degradation of fructose 2,6-bisphosphate. {ECO:0000269|PubMed:10077634, ECO:0000269|PubMed:17499765, ECO:0000305|PubMed:16316985}.
Q17R98 ZNF827 S965 ochoa Zinc finger protein 827 As part of a ribonucleoprotein complex composed at least of HNRNPK, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation (PubMed:33174841). Could also recruit the nucleosome remodeling and histone deacetylase/NuRD complex to telomeric regions of chromosomes to regulate chromatin remodeling as part of telomere maintenance (PubMed:25150861). {ECO:0000269|PubMed:25150861, ECO:0000269|PubMed:33174841}.
Q2LD37 BLTP1 S1228 ochoa Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein) Tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (Probable). Plays a role in endosomal trafficking and endosome recycling. Also involved in the actin cytoskeleton and cilia structural dynamics (PubMed:30906834). Acts as a regulator of phagocytosis (PubMed:31540829). {ECO:0000269|PubMed:30906834, ECO:0000269|PubMed:31540829, ECO:0000305|PubMed:35015055, ECO:0000305|PubMed:35491307}.
Q2LD37 BLTP1 S1229 ochoa Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein) Tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (Probable). Plays a role in endosomal trafficking and endosome recycling. Also involved in the actin cytoskeleton and cilia structural dynamics (PubMed:30906834). Acts as a regulator of phagocytosis (PubMed:31540829). {ECO:0000269|PubMed:30906834, ECO:0000269|PubMed:31540829, ECO:0000305|PubMed:35015055, ECO:0000305|PubMed:35491307}.
Q2M2I8 AAK1 S937 ochoa AP2-associated protein kinase 1 (EC 2.7.11.1) (Adaptor-associated kinase 1) Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis (PubMed:11877457, PubMed:11877461, PubMed:12952931, PubMed:14617351, PubMed:17494869, PubMed:25653444). Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1 (PubMed:17494869). Preferentially, may phosphorylate substrates on threonine residues (PubMed:11877457, PubMed:18657069). Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes (PubMed:12952931). Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes (PubMed:18657069). Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity (PubMed:21464124). {ECO:0000269|PubMed:11877457, ECO:0000269|PubMed:11877461, ECO:0000269|PubMed:12952931, ECO:0000269|PubMed:14617351, ECO:0000269|PubMed:17494869, ECO:0000269|PubMed:18657069, ECO:0000269|PubMed:21464124, ECO:0000269|PubMed:25653444}.; FUNCTION: (Microbial infection) By regulating clathrin-mediated endocytosis, AAK1 plays a role in the entry of hepatitis C virus as well as for the lifecycle of other viruses such as Ebola and Dengue. {ECO:0000269|PubMed:25653444, ECO:0000305|PubMed:31136173}.
Q3V6T2 CCDC88A S1439 ochoa Girdin (Akt phosphorylation enhancer) (APE) (Coiled-coil domain-containing protein 88A) (G alpha-interacting vesicle-associated protein) (GIV) (Girders of actin filament) (Hook-related protein 1) (HkRP1) Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:25187647). Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide-binding protein G(s) subunit alpha GNAS (PubMed:27621449). Essential for cell migration (PubMed:16139227, PubMed:19211784, PubMed:20462955, PubMed:21954290). Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration (PubMed:20462955). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex which enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB (PubMed:19211784). Phosphorylation of AKT1/PKB induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Binds in its tyrosine-phosphorylated form to the phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1 which enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290). Plays a role as a key modulator of the AKT-mTOR signaling pathway, controlling the tempo of the process of newborn neuron integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Inhibition of G(s) subunit alpha GNAS leads to reduced cellular levels of cAMP and suppression of cell proliferation (PubMed:27621449). Essential for the integrity of the actin cytoskeleton (PubMed:16139227, PubMed:19211784). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382). {ECO:0000250|UniProtKB:Q5SNZ0, ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227, ECO:0000269|PubMed:19211784, ECO:0000269|PubMed:20462955, ECO:0000269|PubMed:21954290, ECO:0000269|PubMed:23509302, ECO:0000269|PubMed:25187647, ECO:0000269|PubMed:27621449, ECO:0000269|PubMed:27623382}.
Q56NI9 ESCO2 S333 ochoa N-acetyltransferase ESCO2 (EC 2.3.1.-) (Establishment factor-like protein 2) (EFO2) (EFO2p) (hEFO2) (Establishment of cohesion 1 homolog 2) (ECO1 homolog 2) Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234). {ECO:0000269|PubMed:15821733, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496, ECO:0000269|PubMed:21111234}.
Q5JSZ5 PRRC2B S232 ochoa Protein PRRC2B (HLA-B-associated transcript 2-like 1) (Proline-rich coiled-coil protein 2B) None
Q5JSZ5 PRRC2B S288 ochoa Protein PRRC2B (HLA-B-associated transcript 2-like 1) (Proline-rich coiled-coil protein 2B) None
Q5SVZ6 ZMYM1 S406 ochoa Zinc finger MYM-type protein 1 None
Q5T200 ZC3H13 S585 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}.
Q5T5P2 KIAA1217 S1809 ochoa Sickle tail protein homolog Required for normal development of intervertebral disks. {ECO:0000250|UniProtKB:A2AQ25}.
Q5T9C2 EEIG1 S227 ochoa Early estrogen-induced gene 1 protein (EEIG1) Key component of TNFSF11/RANKL- and TNF-induced osteoclastogenesis pathways, thereby mediates bone resorption in pathological bone loss conditions (By similarity). Required for TNFSF11/RANKL-induced osteoclastogenesis via its interaction with TNFRSF11A/RANK, thereby facilitates the downsteam transcription of NFATC1 and activation of PLCG2 (By similarity). Facilitates recruitment of the transcriptional repressor PRDM1/BLIMP1 to the promoter of the anti-osteoclastogenesis gene IRF8, thereby resulting in transcription of osteoclast differentiation factors (By similarity). May play a role in estrogen action (PubMed:14605097). {ECO:0000250|UniProtKB:Q78T81, ECO:0000269|PubMed:14605097}.
Q5TCZ1 SH3PXD2A S644 ochoa SH3 and PX domain-containing protein 2A (Adapter protein TKS5) (Five SH3 domain-containing protein) (SH3 multiple domains protein 1) (Tyrosine kinase substrate with five SH3 domains) Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells (PubMed:27789576). Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide. {ECO:0000269|PubMed:12615925, ECO:0000269|PubMed:15710328, ECO:0000269|PubMed:15710903, ECO:0000269|PubMed:19755710, ECO:0000269|PubMed:20609497, ECO:0000269|PubMed:27789576}.
Q5TCZ1 SH3PXD2A S662 ochoa SH3 and PX domain-containing protein 2A (Adapter protein TKS5) (Five SH3 domain-containing protein) (SH3 multiple domains protein 1) (Tyrosine kinase substrate with five SH3 domains) Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells (PubMed:27789576). Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide. {ECO:0000269|PubMed:12615925, ECO:0000269|PubMed:15710328, ECO:0000269|PubMed:15710903, ECO:0000269|PubMed:19755710, ECO:0000269|PubMed:20609497, ECO:0000269|PubMed:27789576}.
Q5VT25 CDC42BPA S1635 ochoa Serine/threonine-protein kinase MRCK alpha (EC 2.7.11.1) (CDC42-binding protein kinase alpha) (DMPK-like alpha) (Myotonic dystrophy kinase-related CDC42-binding kinase alpha) (MRCK alpha) (Myotonic dystrophy protein kinase-like alpha) Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9092543, PubMed:9418861). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). Triggers the formation of an extrusion apical actin ring required for epithelial extrusion of apoptotic cells (PubMed:29162624). {ECO:0000250|UniProtKB:Q3UU96, ECO:0000269|PubMed:11340065, ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:15723050, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:20188707, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:29162624, ECO:0000269|PubMed:9092543, ECO:0000269|PubMed:9418861}.
Q5VWN6 TASOR2 S2062 ochoa Protein TASOR 2 None
Q5W0B1 OBI1 S304 ochoa ORC ubiquitin ligase 1 (OBI1) (EC 2.3.2.27) (RING finger protein 219) E3 ubiquitin ligase essential for DNA replication origin activation during S phase (PubMed:31160578). Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase (PubMed:31160578). {ECO:0000269|PubMed:31160578}.
Q5W0B1 OBI1 S305 ochoa ORC ubiquitin ligase 1 (OBI1) (EC 2.3.2.27) (RING finger protein 219) E3 ubiquitin ligase essential for DNA replication origin activation during S phase (PubMed:31160578). Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase (PubMed:31160578). {ECO:0000269|PubMed:31160578}.
Q5XKK7 FAM219B S133 ochoa Protein FAM219B None
Q66K74 MAP1S S929 ochoa Microtubule-associated protein 1S (MAP-1S) (BPY2-interacting protein 1) (Microtubule-associated protein 8) (Variable charge Y chromosome 2-interacting protein 1) (VCY2-interacting protein 1) (VCY2IP-1) [Cleaved into: MAP1S heavy chain; MAP1S light chain] Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity). {ECO:0000250, ECO:0000269|PubMed:15899810, ECO:0000269|PubMed:17234756}.
Q68DC2 ANKS6 S621 ochoa Ankyrin repeat and SAM domain-containing protein 6 (Ankyrin repeat domain-containing protein 14) (SamCystin) (Sterile alpha motif domain-containing protein 6) (SAM domain-containing protein 6) Required for renal function. {ECO:0000269|PubMed:23793029}.
Q69YH5 CDCA2 S855 ochoa Cell division cycle-associated protein 2 (Recruits PP1 onto mitotic chromatin at anaphase protein) (Repo-Man) Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates. {ECO:0000269|PubMed:16492807, ECO:0000269|PubMed:16998479}.
Q6AWC2 WWC2 S151 ochoa Protein WWC2 (BH-3-only member B) (WW domain-containing protein 2) Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway. {ECO:0000269|PubMed:24682284}.
Q6EMB2 TTLL5 Y881 ochoa Tubulin polyglutamylase TTLL5 (EC 6.3.2.-) (SRC1 and TIF2-associated modulatory protein) (STAMP protein) (Tubulin--tyrosine ligase-like protein 5) Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules (PubMed:22493317). Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691). {ECO:0000250|UniProtKB:Q8CHB8, ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:22493317}.
Q6H8Q1 ABLIM2 S363 ochoa Actin-binding LIM protein 2 (abLIM-2) (Actin-binding LIM protein family member 2) May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. {ECO:0000269|PubMed:17194709}.
Q6IQ55 TTBK2 S852 ochoa Tau-tubulin kinase 2 (EC 2.7.11.1) Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro (PubMed:23141541). Phosphorylates MPHOSPH9 which promotes its ubiquitination and proteasomal degradation, loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex (a negative regulator of ciliogenesis) from the mother centrioles, promoting the initiation of ciliogenesis (PubMed:30375385). Required for recruitment of CPLANE2 and INTU to the mother centriole (By similarity). {ECO:0000250|UniProtKB:Q3UVR3, ECO:0000269|PubMed:21548880, ECO:0000269|PubMed:23141541, ECO:0000269|PubMed:30375385}.
Q6N043 ZNF280D S213 ochoa Zinc finger protein 280D (Suppressor of hairy wing homolog 4) (Zinc finger protein 634) May function as a transcription factor.
Q6P0Q8 MAST2 S1299 ochoa Microtubule-associated serine/threonine-protein kinase 2 (EC 2.7.11.1) Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). {ECO:0000250}.
Q6P0Q8 MAST2 S1644 ochoa Microtubule-associated serine/threonine-protein kinase 2 (EC 2.7.11.1) Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). {ECO:0000250}.
Q6P4F7 ARHGAP11A S888 ochoa Rho GTPase-activating protein 11A (Rho-type GTPase-activating protein 11A) GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000269|PubMed:27957544}.
Q6R327 RICTOR S1039 ochoa Rapamycin-insensitive companion of mTOR (AVO3 homolog) (hAVO3) Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15268862, PubMed:15718470, PubMed:19720745, PubMed:19995915, PubMed:21343617, PubMed:33158864, PubMed:35904232, PubMed:35926713). In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1 (PubMed:19720745, PubMed:19935711, PubMed:19995915). In contrast to mTORC1, mTORC2 is nutrient-insensitive (PubMed:15467718, PubMed:21343617). Within the mTORC2 complex, RICTOR probably acts as a molecular adapter (PubMed:21343617, PubMed:33158864, PubMed:35926713). RICTOR is responsible for the FKBP12-rapamycin-insensitivity of mTORC2 (PubMed:33158864). mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation (PubMed:15718470, PubMed:19720745, PubMed:19935711, PubMed:35926713). mTORC2 catalyzes the phosphorylation of SGK1 at 'Ser-422' and of PRKCA on 'Ser-657' (By similarity). The mTORC2 complex also phosphorylates various proteins involved in insulin signaling, such as FBXW8 and IGF2BP1 (By similarity). mTORC2 acts upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors (PubMed:15467718). mTORC2 promotes the serum-induced formation of stress-fibers or F-actin (PubMed:15467718). {ECO:0000250|UniProtKB:Q6QI06, ECO:0000269|PubMed:15268862, ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:19720745, ECO:0000269|PubMed:19935711, ECO:0000269|PubMed:19995915, ECO:0000269|PubMed:21343617, ECO:0000269|PubMed:33158864, ECO:0000269|PubMed:35904232, ECO:0000269|PubMed:35926713}.
Q6R327 RICTOR S1320 ochoa Rapamycin-insensitive companion of mTOR (AVO3 homolog) (hAVO3) Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15268862, PubMed:15718470, PubMed:19720745, PubMed:19995915, PubMed:21343617, PubMed:33158864, PubMed:35904232, PubMed:35926713). In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1 (PubMed:19720745, PubMed:19935711, PubMed:19995915). In contrast to mTORC1, mTORC2 is nutrient-insensitive (PubMed:15467718, PubMed:21343617). Within the mTORC2 complex, RICTOR probably acts as a molecular adapter (PubMed:21343617, PubMed:33158864, PubMed:35926713). RICTOR is responsible for the FKBP12-rapamycin-insensitivity of mTORC2 (PubMed:33158864). mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation (PubMed:15718470, PubMed:19720745, PubMed:19935711, PubMed:35926713). mTORC2 catalyzes the phosphorylation of SGK1 at 'Ser-422' and of PRKCA on 'Ser-657' (By similarity). The mTORC2 complex also phosphorylates various proteins involved in insulin signaling, such as FBXW8 and IGF2BP1 (By similarity). mTORC2 acts upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors (PubMed:15467718). mTORC2 promotes the serum-induced formation of stress-fibers or F-actin (PubMed:15467718). {ECO:0000250|UniProtKB:Q6QI06, ECO:0000269|PubMed:15268862, ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:19720745, ECO:0000269|PubMed:19935711, ECO:0000269|PubMed:19995915, ECO:0000269|PubMed:21343617, ECO:0000269|PubMed:33158864, ECO:0000269|PubMed:35904232, ECO:0000269|PubMed:35926713}.
Q6T4R5 NHS S980 ochoa Actin remodeling regulator NHS (Congenital cataracts and dental anomalies protein) (Nance-Horan syndrome protein) May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development. {ECO:0000269|PubMed:20332100}.
Q6UXY8 TMC5 S84 ochoa Transmembrane channel-like protein 5 Probable component of an ion channel (Probable). Molecular function hasn't been characterized yet (Probable). {ECO:0000305}.
Q6ZMI0 PPP1R21 S93 ochoa Protein phosphatase 1 regulatory subunit 21 (Coiled-coil domain-containing protein 128) (Ferry endosomal RAB5 effector complex subunit 2) (Fy-2) (KLRAQ motif-containing protein 1) Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). In the complex, PPP1R21 serves as a binding hub connecting all five complex subunits and mediating the binding to mRNA and early endosomes via RAB5A (PubMed:37267906). Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (Probable) (PubMed:30520571). {ECO:0000269|PubMed:30520571, ECO:0000269|PubMed:37267905, ECO:0000269|PubMed:37267906, ECO:0000305|PubMed:19389623}.
Q6ZNL6 FGD5 S1330 ochoa FYVE, RhoGEF and PH domain-containing protein 5 (Zinc finger FYVE domain-containing protein 23) Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape. {ECO:0000269|PubMed:22328776}.
Q70E73 RAPH1 S571 ochoa Ras-associated and pleckstrin homology domains-containing protein 1 (RAPH1) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein) (Lamellipodin) (Proline-rich EVH1 ligand 2) (PREL-2) (Protein RMO1) Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion.
Q7L5L3 GDPD3 S179 psp Lysophospholipase D GDPD3 (EC 3.1.4.-) (Glycerophosphodiester phosphodiesterase 7) (Glycerophosphodiester phosphodiesterase domain-containing protein 3) Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines (PubMed:27637550). Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylcholine (lyso-PC) and N-acylethanolamine lysophospholipids (PubMed:27637550). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine. {ECO:0000250|UniProtKB:Q99LY2, ECO:0000269|PubMed:27637550}.
Q7LBC6 KDM3B S647 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}.
Q7LFL8 CXXC5 S84 ochoa CXXC-type zinc finger protein 5 (CF5) (Putative MAPK-activating protein PM08) (Putative NF-kappa-B-activating protein 102) (Retinoid-inducible nuclear factor) (RINF) May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). May repress COX4I2 transactivation induced by CHCHD2 and RBPJ (PubMed:23303788). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034). {ECO:0000250|UniProtKB:Q5XIQ3, ECO:0000269|PubMed:19182210, ECO:0000269|PubMed:19557330, ECO:0000269|PubMed:23303788, ECO:0000269|PubMed:29276034}.
Q7RTP6 MICAL3 S1685 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}.
Q7Z2W4 ZC3HAV1 S590 ochoa Zinc finger CCCH-type antiviral protein 1 (ADP-ribosyltransferase diphtheria toxin-like 13) (ARTD13) (Inactive Poly [ADP-ribose] polymerase 13) (PARP13) (Zinc finger CCCH domain-containing protein 2) (Zinc finger antiviral protein) (ZAP) Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end. Its target viruses belong to families which include retroviridae: human immunodeficiency virus type 1 (HIV-1), moloney and murine leukemia virus (MoMLV) and xenotropic MuLV-related virus (XMRV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation. Isoform 1 is a more potent viral inhibitor than isoform 2. Isoform 2 acts as a positive regulator of RIGI signaling resulting in activation of the downstream effector IRF3 leading to the expression of type I IFNs and IFN stimulated genes (ISGs). {ECO:0000269|PubMed:18225958, ECO:0000269|PubMed:21102435, ECO:0000269|PubMed:21876179, ECO:0000269|PubMed:22720057}.
Q7Z417 NUFIP2 S404 ochoa FMR1-interacting protein NUFIP2 (82 kDa FMRP-interacting protein) (82-FIP) (Cell proliferation-inducing gene 1 protein) (FMRP-interacting protein 2) (Nuclear FMR1-interacting protein 2) Binds RNA. {ECO:0000269|PubMed:12837692}.
Q7Z460 CLASP1 S254 ochoa CLIP-associating protein 1 (Cytoplasmic linker-associated protein 1) (Multiple asters homolog 1) (Protein Orbit homolog 1) (hOrbit1) Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle. {ECO:0000269|PubMed:11290329, ECO:0000269|PubMed:12837247, ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514, ECO:0000269|PubMed:17543864}.
Q7Z569 BRAP S571 ochoa BRCA1-associated protein (EC 2.3.2.27) (BRAP2) (Impedes mitogenic signal propagation) (IMP) (RING finger protein 52) (RING-type E3 ubiquitin transferase BRAP2) (Renal carcinoma antigen NY-REN-63) Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport. {ECO:0000269|PubMed:14724641, ECO:0000303|PubMed:10777491}.
Q86UP3 ZFHX4 S508 ochoa Zinc finger homeobox protein 4 (Zinc finger homeodomain protein 4) (ZFH-4) May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation. {ECO:0000250}.
Q86UU1 PHLDB1 S987 ochoa Pleckstrin homology-like domain family B member 1 (Protein LL5-alpha) None
Q86VQ1 GLCCI1 S483 ochoa Glucocorticoid-induced transcript 1 protein None
Q86X02 CDR2L S393 ochoa Cerebellar degeneration-related protein 2-like (Paraneoplastic 62 kDa antigen) None
Q8IU85 CAMK1D S358 ochoa Calcium/calmodulin-dependent protein kinase type 1D (EC 2.7.11.17) (CaM kinase I delta) (CaM kinase ID) (CaM-KI delta) (CaMKI delta) (CaMKID) (CaMKI-like protein kinase) (CKLiK) Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of erythroleukemia cells. In vitro, phosphorylates transcription factor CREM isoform Beta. {ECO:0000269|PubMed:11050006, ECO:0000269|PubMed:15840691, ECO:0000269|PubMed:16324104, ECO:0000269|PubMed:17056143}.
Q8IUD2 ERC1 S41 ochoa ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2) Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269|PubMed:15218148}.
Q8IVL0 NAV3 S1157 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 S1232 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}.
Q8IVL1 NAV2 S1549 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}.
Q8IW19 APLF S238 ochoa Aprataxin and PNK-like factor (EC 3.1.-.-) (Apurinic-apyrimidinic endonuclease APLF) (PNK and APTX-like FHA domain-containing protein) (XRCC1-interacting protein 1) Histone chaperone involved in single-strand and double-strand DNA break repair (PubMed:17353262, PubMed:17396150, PubMed:21211721, PubMed:21211722, PubMed:29905837, PubMed:30104678). Recruited to sites of DNA damage through interaction with branched poly-ADP-ribose chains, a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions (PubMed:17353262, PubMed:17396150, PubMed:21211721, PubMed:30104678). Following recruitment to DNA damage sites, acts as a histone chaperone that mediates histone eviction during DNA repair and promotes recruitment of histone variant MACROH2A1 (PubMed:21211722, PubMed:29905837, PubMed:30104678). Also has a nuclease activity: displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro (PubMed:17353262, PubMed:17396150). Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage (PubMed:17353262, PubMed:17396150). Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721, PubMed:23689425). Also acts as a negative regulator of cell pluripotency by promoting histone exchange (By similarity). Required for the embryo implantation during the epithelial to mesenchymal transition in females (By similarity). {ECO:0000250|UniProtKB:Q9D842, ECO:0000269|PubMed:17353262, ECO:0000269|PubMed:17396150, ECO:0000269|PubMed:21211721, ECO:0000269|PubMed:21211722, ECO:0000269|PubMed:23689425, ECO:0000269|PubMed:29905837, ECO:0000269|PubMed:30104678}.
Q8IW50 FAM219A S122 ochoa Protein FAM219A None
Q8IW93 ARHGEF19 S336 ochoa Rho guanine nucleotide exchange factor 19 (Ephexin-2) Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase. {ECO:0000250}.
Q8IWA4 MFN1 S86 psp Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembrane GTPase MFN1) Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303). {ECO:0000269|PubMed:12475957, ECO:0000269|PubMed:12759376, ECO:0000269|PubMed:27920125, ECO:0000269|PubMed:28114303}.
Q8IWB9 TEX2 S135 ochoa Testis-expressed protein 2 (Transmembrane protein 96) During endoplasmic reticulum (ER) stress or when cellular ceramide levels increase, may induce contacts between the ER and medial-Golgi complex to facilitate non-vesicular transport of ceramides from the ER to the Golgi complex where they are converted to complex sphingolipids, preventing toxic ceramide accumulation. {ECO:0000269|PubMed:28011845}.
Q8IXS8 HYCC2 S450 ochoa Hyccin 2 Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. {ECO:0000305|PubMed:26571211}.
Q8IY92 SLX4 S1138 psp Structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12) Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks. {ECO:0000269|PubMed:19595721, ECO:0000269|PubMed:19595722, ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:19596236}.
Q8IY92 SLX4 S1716 psp Structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12) Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks. {ECO:0000269|PubMed:19595721, ECO:0000269|PubMed:19595722, ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:19596236}.
Q8IYA6 CKAP2L S114 ochoa Cytoskeleton-associated protein 2-like (Radial fiber and mitotic spindle protein) (Radmis) Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells. {ECO:0000269|PubMed:25439729}.
Q8IYL3 C1orf174 S153 ochoa UPF0688 protein C1orf174 None
Q8IZL2 MAML2 S491 ochoa Mastermind-like protein 2 (Mam-2) Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158, ECO:0000269|PubMed:12539049}.
Q8N122 RPTOR S791 psp Regulatory-associated protein of mTOR (Raptor) (p150 target of rapamycin (TOR)-scaffold protein) Component of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:32561715, PubMed:37541260). In response to nutrients, growth factors or amino acids, mTORC1 is recruited to the lysosome membrane and promotes protein, lipid and nucleotide synthesis by phosphorylating several substrates, such as ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:37541260). In the same time, it inhibits catabolic pathways by phosphorylating the autophagy initiation components ULK1 and ATG13, as well as transcription factor TFEB, a master regulators of lysosomal biogenesis and autophagy (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:32561715, PubMed:37541260). The mTORC1 complex is inhibited in response to starvation and amino acid depletion (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:37541260). Within the mTORC1 complex, RPTOR acts both as a molecular adapter, which (1) mediates recruitment of mTORC1 to lysosomal membranes via interaction with small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD), and a (2) substrate-specific adapter, which promotes substrate specificity by binding to TOS motif-containing proteins and direct them towards the active site of the MTOR kinase domain for phosphorylation (PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:37541260). mTORC1 complex regulates many cellular processes, such as odontoblast and osteoclast differentiation or neuronal transmission (By similarity). mTORC1 complex in excitatory neuronal transmission is required for the prosocial behavior induced by the psychoactive substance lysergic acid diethylamide (LSD) (By similarity). {ECO:0000250|UniProtKB:Q8K4Q0, ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926, ECO:0000269|PubMed:12747827, ECO:0000269|PubMed:24403073, ECO:0000269|PubMed:26588989, ECO:0000269|PubMed:32561715, ECO:0000269|PubMed:37541260}.
Q8N264 ARHGAP24 S437 psp Rho GTPase-activating protein 24 (Filamin-A-associated RhoGAP) (FilGAP) (RAC1- and CDC42-specific GTPase-activating protein of 72 kDa) (RC-GAP72) (Rho-type GTPase-activating protein 24) (RhoGAP of 73 kDa) (Sarcoma antigen NY-SAR-88) (p73RhoGAP) Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis. {ECO:0000269|PubMed:15302923, ECO:0000269|PubMed:15611138, ECO:0000269|PubMed:16862148}.
Q8N3X1 FNBP4 S661 ochoa Formin-binding protein 4 (Formin-binding protein 30) None
Q8ND83 SLAIN1 S431 ochoa SLAIN motif-containing protein 1 Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation. {ECO:0000269|PubMed:21646404}.
Q8NDF8 TENT4B S488 ochoa Terminal nucleotidyltransferase 4B (Non-canonical poly(A) RNA polymerase PAPD5) (EC 2.7.7.19) (PAP-associated domain-containing protein 5) (Terminal guanylyltransferase) (EC 2.7.7.-) (Terminal uridylyltransferase 3) (TUTase 3) (Topoisomerase-related function protein 4-2) (TRF4-2) Terminal nucleotidyltransferase that catalyzes preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:21788334, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3' adenylation of the microRNA MIR21 followed by its 3'-to-5' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3'-to-5' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037). {ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:21788334, ECO:0000269|PubMed:21855801, ECO:0000269|PubMed:22442037, ECO:0000269|PubMed:25049417, ECO:0000269|PubMed:28383716, ECO:0000269|PubMed:30026317}.
Q8NDF8 TENT4B S509 ochoa Terminal nucleotidyltransferase 4B (Non-canonical poly(A) RNA polymerase PAPD5) (EC 2.7.7.19) (PAP-associated domain-containing protein 5) (Terminal guanylyltransferase) (EC 2.7.7.-) (Terminal uridylyltransferase 3) (TUTase 3) (Topoisomerase-related function protein 4-2) (TRF4-2) Terminal nucleotidyltransferase that catalyzes preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:21788334, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3' adenylation of the microRNA MIR21 followed by its 3'-to-5' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3'-to-5' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037). {ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:21788334, ECO:0000269|PubMed:21855801, ECO:0000269|PubMed:22442037, ECO:0000269|PubMed:25049417, ECO:0000269|PubMed:28383716, ECO:0000269|PubMed:30026317}.
Q8NEM7 SUPT20H S524 ochoa Transcription factor SPT20 homolog (p38-interacting protein) (p38IP) Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy. {ECO:0000250, ECO:0000269|PubMed:19893488}.
Q8NEY1 NAV1 S1271 ochoa Neuron navigator 1 (Pore membrane and/or filament-interacting-like protein 3) (Steerin-1) (Unc-53 homolog 1) (unc53H1) May be involved in neuronal migration. {ECO:0000250}.
Q8NFY4 SEMA6D S1026 ochoa Semaphorin-6D Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. Ligand of TREM2 with PLXNA1 as coreceptor in dendritic cells, plays a role in the generation of immune responses and skeletal homeostasis (By similarity). {ECO:0000250|UniProtKB:Q76KF0}.
Q8TBP0 TBC1D16 S221 ochoa TBC1 domain family member 16 May act as a GTPase-activating protein for Rab family protein(s).
Q8TDM6 DLG5 S1254 ochoa Disks large homolog 5 (Discs large protein P-dlg) (Placenta and prostate DLG) Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity). {ECO:0000250|UniProtKB:E9Q9R9, ECO:0000269|PubMed:28087714, ECO:0000269|PubMed:28169360}.
Q8TEW8 PARD3B S801 ochoa Partitioning defective 3 homolog B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein) (PAR3-beta) (Partitioning defective 3-like protein) (PAR3-L protein) Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.
Q8TF76 HASPIN S435 psp Serine/threonine-protein kinase haspin (EC 2.7.11.1) (Germ cell-specific gene 2 protein) (H-haspin) (Haploid germ cell-specific nuclear protein kinase) Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle. {ECO:0000269|PubMed:11228240, ECO:0000269|PubMed:15681610, ECO:0000269|PubMed:17084365, ECO:0000269|PubMed:20705812, ECO:0000269|PubMed:20929775}.
Q8WUD1 RAB2B S192 ochoa Ras-related protein Rab-2B (EC 3.6.5.2) The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between active GTP-bound and inactive GDP-bound states. In their active state, drive transport of vesicular carriers from donor organelles to acceptor organelles to regulate the membrane traffic that maintains organelle identity and morphology. Regulates the compacted morphology of the Golgi (Probable). Promotes cytosolic DNA-induced innate immune responses. Regulates IFN responses against DNA viruses by regulating the CGAS-STING signaling axis (By similarity). Together with RAB2A redundantly required for efficient autophagic flux (PubMed:28483915). {ECO:0000250|UniProtKB:P59279, ECO:0000269|PubMed:28483915, ECO:0000305|PubMed:26209634}.
Q8WWI1 LMO7 S1144 ochoa LIM domain only protein 7 (LMO-7) (F-box only protein 20) (LOMP) None
Q8WWN9 IPCEF1 S209 ochoa Interactor protein for cytohesin exchange factors 1 (Phosphoinositide-binding protein PIP3-E) Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner. {ECO:0000250}.
Q8WXE9 STON2 S342 ochoa Stonin-2 (Stoned B) Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating. {ECO:0000269|PubMed:11381094, ECO:0000269|PubMed:11454741, ECO:0000269|PubMed:21102408}.
Q8WXG6 MADD S935 ochoa MAP kinase-activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor) (RabGEF) (Rab3 GDP/GTP exchange protein) (Rab3GEP) Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed:18559336, PubMed:20937701). Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed:18559336, PubMed:20937701). Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms, GTPases involved in synaptic vesicle exocytosis and vesicle secretion (By similarity). Plays a role in synaptic vesicle formation and in vesicle trafficking at the neuromuscular junction (By similarity). Involved in up-regulating a post-docking step of synaptic exocytosis in central synapses (By similarity). Probably by binding to the motor proteins KIF1B and KIF1A, mediates motor-dependent transport of GTP-RAB3A-positive vesicles to the presynaptic nerve terminals (By similarity). Plays a role in TNFA-mediated activation of the MAPK pathway, including ERK1/2 (PubMed:32761064). May link TNFRSF1A with MAP kinase activation (PubMed:9115275). May be involved in the regulation of TNFA-induced apoptosis (PubMed:11577081, PubMed:32761064). {ECO:0000250|UniProtKB:O08873, ECO:0000250|UniProtKB:Q80U28, ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:18559336, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:32761064, ECO:0000269|PubMed:9115275}.
Q8WYB5 KAT6B S1598 ochoa Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor) Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. {ECO:0000269|PubMed:10497217, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:16387653}.
Q8WZ75 ROBO4 S542 ochoa Roundabout homolog 4 (Magic roundabout) Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function (PubMed:30455415). {ECO:0000250, ECO:0000269|PubMed:30455415}.
Q92576 PHF3 S473 ochoa PHD finger protein 3 None
Q92622 RUBCN S443 ochoa Run domain Beclin-1-interacting and cysteine-rich domain-containing protein (Rubicon) (Beclin-1 associated RUN domain containing protein) (Baron) Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745). {ECO:0000269|PubMed:20974968, ECO:0000269|PubMed:21062745}.; FUNCTION: Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or RIGI-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967). {ECO:0000269|PubMed:22423966, ECO:0000269|PubMed:22423967}.
Q92747 ARPC1A S236 ochoa Actin-related protein 2/3 complex subunit 1A (SOP2-like protein) Probably functions as a component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. {ECO:0000305|PubMed:8978670}.
Q92793 CREBBP S124 ochoa CREB-binding protein (Histone lysine acetyltransferase CREBBP) (EC 2.3.1.48) (Protein lactyltransferas CREBBP) (EC 2.3.1.-) (Protein-lysine acetyltransferase CREBBP) (EC 2.3.1.-) Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:24207024, PubMed:28790157, PubMed:30540930, PubMed:35675826, PubMed:9707565). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as lactoyl-CoA, and is able to mediate protein lactylation (PubMed:38128537). Catalyzes lactylation of MRE11 in response to DNA damage, thereby promoting DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:38128537). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000269|PubMed:10490106, ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:21131905, ECO:0000269|PubMed:24207024, ECO:0000269|PubMed:24616510, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:28790157, ECO:0000269|PubMed:30540930, ECO:0000269|PubMed:35675826, ECO:0000269|PubMed:38128537, ECO:0000269|PubMed:9707565}.
Q92879 CELF1 S300 psp CUGBP Elav-like family member 1 (CELF-1) (50 kDa nuclear polyadenylated RNA-binding protein) (Bruno-like protein 2) (CUG triplet repeat RNA-binding protein 1) (CUG-BP1) (CUG-BP- and ETR-3-like factor 1) (Deadenylation factor CUG-BP) (Embryo deadenylation element-binding protein homolog) (EDEN-BP homolog) (RNA-binding protein BRUNOL-2) RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging liver. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233). {ECO:0000250, ECO:0000269|PubMed:10536163, ECO:0000269|PubMed:11124939, ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12649496, ECO:0000269|PubMed:12799066, ECO:0000269|PubMed:14726956, ECO:0000269|PubMed:16601207, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:28431233}.
Q92879 CELF1 S302 psp CUGBP Elav-like family member 1 (CELF-1) (50 kDa nuclear polyadenylated RNA-binding protein) (Bruno-like protein 2) (CUG triplet repeat RNA-binding protein 1) (CUG-BP1) (CUG-BP- and ETR-3-like factor 1) (Deadenylation factor CUG-BP) (Embryo deadenylation element-binding protein homolog) (EDEN-BP homolog) (RNA-binding protein BRUNOL-2) RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging liver. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233). {ECO:0000250, ECO:0000269|PubMed:10536163, ECO:0000269|PubMed:11124939, ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12649496, ECO:0000269|PubMed:12799066, ECO:0000269|PubMed:14726956, ECO:0000269|PubMed:16601207, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:28431233}.
Q96CC6 RHBDF1 S191 ochoa Inactive rhomboid protein 1 (iRhom1) (Epidermal growth factor receptor-related protein) (Rhomboid 5 homolog 1) (Rhomboid family member 1) (p100hRho) Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18524845, ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629}.
Q96FA3 PELI1 S125 psp E3 ubiquitin-protein ligase pellino homolog 1 (Pellino-1) (EC 2.3.2.27) (Pellino-related intracellular-signaling molecule) (RING-type E3 ubiquitin transferase pellino homolog 1) E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:12496252, PubMed:17675297, PubMed:29883609, PubMed:30952868). Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6 (PubMed:12496252, PubMed:17675297). Acts as a positive regulator of inflammatory response in microglia through activation of NF-kappa-B and MAP kinase (By similarity). Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Conjugates 'Lys-63'-linked ubiquitin chains to the adapter protein ASC/PYCARD, which in turn is crucial for NLRP3 inflammasome activation (PubMed:34706239). Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates 'Lys-63'-linked ubiquitination of RIPK1 (PubMed:29883609). Following phosphorylation by ATM, catalyzes 'Lys-63'-linked ubiquitination of NBN, promoting DNA repair via homologous recombination (PubMed:30952868). Negatively regulates activation of the metabolic mTORC1 signaling pathway by mediating 'Lys-63'-linked ubiquitination of mTORC1-inhibitory protein TSC1 and thereby promoting TSC1/TSC2 complex stability (PubMed:33215753). {ECO:0000250|UniProtKB:Q8C669, ECO:0000269|PubMed:12496252, ECO:0000269|PubMed:17675297, ECO:0000269|PubMed:29883609, ECO:0000269|PubMed:30952868, ECO:0000269|PubMed:33215753}.
Q96J92 WNK4 Y1113 psp Serine/threonine-protein kinase WNK4 (EC 2.7.11.1) (Protein kinase lysine-deficient 4) (Protein kinase with no lysine 4) Serine/threonine-protein kinase component of the WNK4-SPAK/OSR1 kinase cascade, which acts as a key regulator of ion transport in the distal nephron and blood pressure (By similarity). The WNK4-SPAK/OSR1 kinase cascade is composed of WNK4, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (PubMed:16832045). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:16832045, PubMed:22989884). Acts as a molecular switch that regulates the balance between renal salt reabsorption and K(+) secretion by modulating the activities of renal transporters and channels, including the Na-Cl cotransporter SLC12A3/NCC and the K(+) channel, KCNJ1/ROMK (By similarity). Regulates NaCl reabsorption in the distal nephron by activating the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney: activates SLC12A3/NCC in a OXSR1/OSR1- and STK39/SPAK-dependent process (By similarity). Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels (CFTR, KCNJ1/ROMK, SLC4A4, SLC26A9 and TRPV4) by clathrin-dependent endocytosis (By similarity). Also inhibits the activity of the epithelial Na(+) channel (ENaC) SCNN1A, SCNN1B, SCNN1D in a inase-independent mechanism (By similarity). May also phosphorylate NEDD4L (PubMed:20525693). {ECO:0000250|UniProtKB:Q80UE6, ECO:0000269|PubMed:16832045, ECO:0000269|PubMed:20525693, ECO:0000269|PubMed:22989884}.
Q96JH8 RADIL S962 ochoa Ras-associating and dilute domain-containing protein Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. {ECO:0000269|PubMed:17704304}.
Q96JH8 RADIL S963 ochoa Ras-associating and dilute domain-containing protein Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. {ECO:0000269|PubMed:17704304}.
Q96JQ2 CLMN S402 ochoa Calmin (Calponin-like transmembrane domain protein) None
Q96NM4 TOX2 S211 ochoa TOX high mobility group box family member 2 (Granulosa cell HMG box protein 1) (GCX-1) Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.
Q96PE1 ADGRA2 S1116 ochoa Adhesion G protein-coupled receptor A2 (G-protein coupled receptor 124) (Tumor endothelial marker 5) Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). ADGRA2-tethering function does not rely on its G-protein coupled receptor (GPCR) structure but instead on its combined capacity to interact with RECK extracellularly and recruit the Dishevelled scaffolding protein intracellularly (PubMed:30026314). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628). {ECO:0000250|UniProtKB:Q91ZV8, ECO:0000269|PubMed:16982628, ECO:0000269|PubMed:28289266, ECO:0000269|PubMed:30026314}.
Q96Q15 SMG1 S3527 ochoa Serine/threonine-protein kinase SMG1 (SMG-1) (hSMG-1) (EC 2.7.11.1) (Lambda/iota protein kinase C-interacting protein) (Lambda-interacting protein) (Nonsense mediated mRNA decay-associated PI3K-related kinase SMG1) Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269, ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154, ECO:0000269|PubMed:16452507}.
Q96QB1 DLC1 T738 psp Rho GTPase-activating protein 7 (Deleted in liver cancer 1 protein) (DLC-1) (HP protein) (Rho-type GTPase-activating protein 7) (START domain-containing protein 12) (StARD12) (StAR-related lipid transfer protein 12) Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85 (PubMed:26166433). The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433). {ECO:0000269|PubMed:18786931, ECO:0000269|PubMed:19170769, ECO:0000269|PubMed:19710422, ECO:0000269|PubMed:26166433}.
Q96QB1 DLC1 S1004 psp Rho GTPase-activating protein 7 (Deleted in liver cancer 1 protein) (DLC-1) (HP protein) (Rho-type GTPase-activating protein 7) (START domain-containing protein 12) (StARD12) (StAR-related lipid transfer protein 12) Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85 (PubMed:26166433). The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433). {ECO:0000269|PubMed:18786931, ECO:0000269|PubMed:19170769, ECO:0000269|PubMed:19710422, ECO:0000269|PubMed:26166433}.
Q96QS3 ARX S67 ochoa|psp Homeobox protein ARX (Aristaless-related homeobox) Transcription factor (PubMed:22194193, PubMed:31691806). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C (PubMed:22194193, PubMed:31691806). Positively modulates transcription of KDM5C (PubMed:31691806). Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory elements (PubMed:31691806). Required for normal brain development (PubMed:11889467, PubMed:12379852, PubMed:14722918). Plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain (By similarity). May also be involved in axonal guidance in the floor plate (By similarity). {ECO:0000250|UniProtKB:O35085, ECO:0000269|PubMed:11889467, ECO:0000269|PubMed:12379852, ECO:0000269|PubMed:14722918, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806}.
Q96QZ7 MAGI1 S741 ochoa|psp Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (Atrophin-1-interacting protein 3) (AIP-3) (BAI1-associated protein 1) (BAP-1) (Membrane-associated guanylate kinase inverted 1) (MAGI-1) (Trinucleotide repeat-containing gene 19 protein) (WW domain-containing protein 3) (WWP3) Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q6RHR9}.
Q96QZ7 MAGI1 S938 ochoa Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (Atrophin-1-interacting protein 3) (AIP-3) (BAI1-associated protein 1) (BAP-1) (Membrane-associated guanylate kinase inverted 1) (MAGI-1) (Trinucleotide repeat-containing gene 19 protein) (WW domain-containing protein 3) (WWP3) Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q6RHR9}.
Q96RK0 CIC S605 ochoa Protein capicua homolog Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. {ECO:0000250|UniProtKB:Q924A2}.
Q96RV3 PCNX1 S571 ochoa Pecanex-like protein 1 (Pecanex homolog protein 1) None
Q96S55 WRNIP1 S413 ochoa ATPase WRNIP1 (EC 3.6.1.-) (Werner helicase-interacting protein 1) Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Also plays a role in the innate immune defense against viruses. Stabilizes the RIGI dsRNA interaction and promotes RIGI 'Lys-63'-linked polyubiquitination. In turn, RIGI transmits the signal through mitochondrial MAVS. {ECO:0000269|PubMed:15670210, ECO:0000269|PubMed:29053956}.
Q96S82 UBL7 S242 ochoa Ubiquitin-like protein 7 (Bone marrow stromal cell ubiquitin-like protein) (BMSC-UbP) (Ubiquitin-like protein SB132) Interferon-stimulated protein that positively regulates RNA virus-triggered innate immune signaling. Mechanistically, promotes 'Lys-27'-linked polyubiquitination of MAVS through TRIM21 leading to enhanced the IFN signaling pathway. {ECO:0000269|PubMed:19690332}.
Q96SI9 STRBP S480 ochoa Spermatid perinuclear RNA-binding protein Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity). {ECO:0000250}.
Q96SU4 OSBPL9 S287 psp Oxysterol-binding protein-related protein 9 (ORP-9) (OSBP-related protein 9) Interacts with OSBPL11 to function as lipid transfer proteins (PubMed:39106189). Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex (PubMed:39106189). {ECO:0000269|PubMed:39106189}.
Q96T37 RBM15 S871 ochoa RNA-binding protein 15 (One-twenty two protein 1) (RNA-binding motif protein 15) RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311). {ECO:0000250|UniProtKB:Q0VBL3, ECO:0000269|PubMed:17001072, ECO:0000269|PubMed:19786495, ECO:0000269|PubMed:26575292, ECO:0000269|PubMed:27602518, ECO:0000305|PubMed:11344311}.
Q99550 MPHOSPH9 S874 ochoa M-phase phosphoprotein 9 Negatively regulates cilia formation by recruiting the CP110-CEP97 complex (a negative regulator of ciliogenesis) at the distal end of the mother centriole in ciliary cells (PubMed:30375385). At the beginning of cilia formation, MPHOSPH9 undergoes TTBK2-mediated phosphorylation and degradation via the ubiquitin-proteasome system and removes itself and the CP110-CEP97 complex from the distal end of the mother centriole, which subsequently promotes cilia formation (PubMed:30375385). {ECO:0000269|PubMed:30375385}.
Q99666 RGPD5 S1294 ochoa RANBP2-like and GRIP domain-containing protein 5/6 (Ran-binding protein 2-like 1/2) (RanBP2-like 1/2) (RanBP2L1) (RanBP2L2) (Sperm membrane protein BS-63) None
Q99983 OMD S244 ochoa Osteomodulin (Keratan sulfate proteoglycan osteomodulin) (KSPG osteomodulin) (Osteoadherin) (OSAD) May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)-integrin. {ECO:0000250|UniProtKB:O77742}.
Q9BQS8 FYCO1 S196 ochoa FYVE and coiled-coil domain-containing protein 1 (Zinc finger FYVE domain-containing protein 7) May mediate microtubule plus end-directed vesicle transport. {ECO:0000269|PubMed:20100911}.
Q9BRK0 REEP2 S193 ochoa Receptor expression-enhancing protein 2 Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity). {ECO:0000250, ECO:0000269|PubMed:24388663}.
Q9BVG8 KIFC3 S809 ochoa Kinesin-like protein KIFC3 Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance. {ECO:0000250, ECO:0000269|PubMed:19041755}.
Q9BX63 BRIP1 S226 ochoa Fanconi anemia group J protein (EC 5.6.2.3) (BRCA1-associated C-terminal helicase 1) (BRCA1-interacting protein C-terminal helicase 1) (BRCA1-interacting protein 1) (DNA 5'-3' helicase FANCJ) DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669). Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination (PubMed:14983014, PubMed:16153896). Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (PubMed:14983014, PubMed:16153896). Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalyzing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease (PubMed:16116421, PubMed:36608669). Can unwind RNA:DNA substrates (PubMed:14983014). Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail (PubMed:18426915, PubMed:20639400). {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896, ECO:0000269|PubMed:17596542, ECO:0000269|PubMed:18426915, ECO:0000269|PubMed:20639400, ECO:0000269|PubMed:36608669}.
Q9BX66 SORBS1 S506 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}.
Q9BXF6 RAB11FIP5 S256 ochoa Rab11 family-interacting protein 5 (Rab11-FIP5) (Gamma-SNAP-associated factor 1) (Gaf-1) (Phosphoprotein pp75) (Rab11-interacting protein Rip11) Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis. {ECO:0000269|PubMed:11163216, ECO:0000269|PubMed:20717956}.
Q9BXL7 CARD11 S615 psp Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1) Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways (PubMed:11356195). Upon activation in response to TCR or BCR triggering, CARD11 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation (PubMed:24074955). Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Promotes linear ubiquitination of BCL10 by promoting the targeting of BCL10 to RNF31/HOIP (PubMed:27777308). Stimulates the phosphorylation of BCL10 (PubMed:11356195). Also activates the TORC1 signaling pathway (PubMed:28628108). {ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:11356195, ECO:0000269|PubMed:12356734, ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:24074955, ECO:0000269|PubMed:27777308, ECO:0000269|PubMed:28628108}.
Q9BYV9 BACH2 S521 psp Transcription regulator protein BACH2 (BTB and CNC homolog 2) Transcriptional regulator that acts as a repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation (PubMed:28530713). {ECO:0000250|UniProtKB:P97303, ECO:0000269|PubMed:17018862, ECO:0000269|PubMed:28530713}.
Q9BZZ5 API5 S485 ochoa Apoptosis inhibitor 5 (API-5) (Antiapoptosis clone 11 protein) (AAC-11) (Cell migration-inducing gene 8 protein) (Fibroblast growth factor 2-interacting factor) (FIF) (Protein XAGL) Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. {ECO:0000269|PubMed:10780674, ECO:0000269|PubMed:17112319, ECO:0000269|PubMed:19387494}.
Q9C004 SPRY4 S98 ochoa Protein sprouty homolog 4 (Spry-4) Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras (PubMed:12027893). Probably impairs the formation of GTP-Ras (PubMed:12027893). Inhibits Ras-independent, but not Ras-dependent, activation of RAF1 (PubMed:12717443). Represses integrin-mediated cell spreading via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:15584898). {ECO:0000269|PubMed:12027893, ECO:0000269|PubMed:12717443, ECO:0000269|PubMed:15584898}.
Q9C0D5 TANC1 S40 ochoa Protein TANC1 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1) May be a scaffold component in the postsynaptic density. {ECO:0000250}.
Q9C0D5 TANC1 S465 ochoa Protein TANC1 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1) May be a scaffold component in the postsynaptic density. {ECO:0000250}.
Q9H2K8 TAOK3 S359 psp Serine/threonine-protein kinase TAO3 (EC 2.7.11.1) (Cutaneous T-cell lymphoma-associated antigen HD-CL-09) (CTCL-associated antigen HD-CL-09) (Dendritic cell-derived protein kinase) (JNK/SAPK-inhibitory kinase) (Jun kinase-inhibitory kinase) (Kinase from chicken homolog A) (hKFC-A) (Thousand and one amino acid protein 3) Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of the MAPK8/JNK cascade and diminishes its activation in response to epidermal growth factor (EGF). Positively regulates canonical T cell receptor (TCR) signaling by preventing early PTPN6/SHP1-mediated inactivation of LCK, ensuring sustained TCR signaling that is required for optimal activation and differentiation of T cells (PubMed:30373850). Phosphorylates PTPN6/SHP1 on 'Thr-394', leading to its polyubiquitination and subsequent proteasomal degradation (PubMed:38166031). Required for cell surface expression of metalloprotease ADAM10 on type 1 transitional B cells which is necessary for their NOTCH-mediated development into marginal zone B cells (By similarity). Also required for the NOTCH-mediated terminal differentiation of splenic conventional type 2 dendritic cells (By similarity). Positively regulates osteoblast differentiation by acting as an upstream activator of the JNK pathway (PubMed:32807497). Promotes JNK signaling in hepatocytes and positively regulates hepatocyte lipid storage by inhibiting beta-oxidation and triacylglycerol secretion while enhancing lipid synthesis (PubMed:34634521). Restricts age-associated inflammation by negatively regulating differentiation of macrophages and their production of pro-inflammatory cytokines (By similarity). Plays a role in negatively regulating the abundance of regulatory T cells in white adipose tissue (By similarity). {ECO:0000250|UniProtKB:Q8BYC6, ECO:0000269|PubMed:10559204, ECO:0000269|PubMed:10924369, ECO:0000269|PubMed:17396146, ECO:0000269|PubMed:30373850, ECO:0000269|PubMed:32807497, ECO:0000269|PubMed:34634521, ECO:0000269|PubMed:38166031}.
Q9H5J8 TAF1D S26 ochoa TATA box-binding protein-associated factor RNA polymerase I subunit D (RNA polymerase I-specific TBP-associated factor 41 kDa) (TAFI41) (TATA box-binding protein-associated factor 1D) (TBP-associated factor 1D) (Transcription initiation factor SL1/TIF-IB subunit D) Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. {ECO:0000269|PubMed:15970593, ECO:0000269|PubMed:17318177}.
Q9H694 BICC1 S612 ochoa Protein bicaudal C homolog 1 (Bic-C) Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development. {ECO:0000269|PubMed:21922595}.
Q9H6A9 PCNX3 S443 ochoa Pecanex-like protein 3 (Pecanex homolog protein 3) None
Q9H7N4 SCAF1 S819 ochoa Splicing factor, arginine/serine-rich 19 (SR-related C-terminal domain-associated factor 1) (SR-related and CTD-associated factor 1) (SR-related-CTD-associated factor) (SCAF) (Serine arginine-rich pre-mRNA splicing factor SR-A1) (SR-A1) May function in pre-mRNA splicing. {ECO:0000250}.
Q9H7N4 SCAF1 S820 ochoa Splicing factor, arginine/serine-rich 19 (SR-related C-terminal domain-associated factor 1) (SR-related and CTD-associated factor 1) (SR-related-CTD-associated factor) (SCAF) (Serine arginine-rich pre-mRNA splicing factor SR-A1) (SR-A1) May function in pre-mRNA splicing. {ECO:0000250}.
Q9H7U1 CCSER2 S206 ochoa Serine-rich coiled-coil domain-containing protein 2 (Coiled-coil serine-rich protein 2) (Protein GCAP14 homolog) Microtubule-binding protein which might play a role in microtubule bundling. {ECO:0000250|UniProtKB:Q3UHI0}.
Q9HB19 PLEKHA2 S321 ochoa Pleckstrin homology domain-containing family A member 2 (PH domain-containing family A member 2) (Tandem PH domain-containing protein 2) (TAPP-2) Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity). {ECO:0000250}.
Q9HC78 ZBTB20 S377 ochoa Zinc finger and BTB domain-containing protein 20 (Dendritic-derived BTB/POZ zinc finger protein) (Zinc finger protein 288) May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). {ECO:0000250|UniProtKB:Q8K0L9, ECO:0000269|PubMed:11352661}.
Q9HCJ0 TNRC6C S1689 ochoa Trinucleotide repeat-containing gene 6C protein Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes. {ECO:0000269|PubMed:19304925, ECO:0000269|PubMed:21981923, ECO:0000269|PubMed:21984184, ECO:0000269|PubMed:21984185}.
Q9HCL0 PCDH18 S778 ochoa Protocadherin-18 Potential calcium-dependent cell-adhesion protein.
Q9HCP0 CSNK1G1 S31 ochoa Casein kinase I isoform gamma-1 (CKI-gamma 1) (EC 2.7.11.1) Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. {ECO:0000250, ECO:0000269|PubMed:21680713}.
Q9NP61 ARFGAP3 Y349 ochoa ADP-ribosylation factor GTPase-activating protein 3 (ARF GAP 3) GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. {ECO:0000269|PubMed:11172815}.
Q9NPG3 UBN1 S1004 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}.
Q9NQ86 TRIM36 S648 ochoa E3 ubiquitin-protein ligase TRIM36 (EC 2.3.2.27) (RING finger protein 98) (RING-type E3 ubiquitin transferase TRIM36) (Tripartite motif-containing protein 36) (Zinc-binding protein Rbcc728) E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization. {ECO:0000250|UniProtKB:Q80WG7, ECO:0000269|PubMed:28087737}.
Q9NQT8 KIF13B S519 ochoa Kinesin-like protein KIF13B (Kinesin-like protein GAKIN) Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes. {ECO:0000269|PubMed:20194617}.
Q9NRE2 TSHZ2 S719 ochoa Teashirt homolog 2 (Ovarian cancer-related protein 10-2) (OVC10-2) (Zinc finger protein 218) Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}.
Q9NRE2 TSHZ2 S720 ochoa Teashirt homolog 2 (Ovarian cancer-related protein 10-2) (OVC10-2) (Zinc finger protein 218) Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}.
Q9NRL2 BAZ1A S1280 ochoa Bromodomain adjacent to zinc finger domain protein 1A (ATP-dependent chromatin-remodeling protein) (ATP-utilizing chromatin assembly and remodeling factor 1) (hACF1) (CHRAC subunit ACF1) (Williams syndrome transcription factor-related chromatin-remodeling factor 180) (WCRF180) (hWALp1) Regulatory subunit of the ATP-dependent ACF-1 and ACF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and slide edge- and center-positioned histone octamers away from their original location on the DNA template to facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:17099699, PubMed:28801535). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template in an ATP-dependent manner (PubMed:14759371, PubMed:17099699, PubMed:28801535). The ACF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the ACF-5 ISWI chromatin remodeling complex (PubMed:28801535). Has a role in sensing the length of DNA which flank nucleosomes, which modulates the nucleosome spacing activity of the ACF-5 ISWI chromatin remodeling complex (PubMed:17099699). Involved in DNA replication and together with SMARCA5/SNF2H is required for replication of pericentric heterochromatin in S-phase (PubMed:12434153). May have a role in nuclear receptor-mediated transcription repression (PubMed:17519354). {ECO:0000269|PubMed:12434153, ECO:0000269|PubMed:14759371, ECO:0000269|PubMed:17099699, ECO:0000269|PubMed:17519354, ECO:0000269|PubMed:28801535}.
Q9NV58 RNF19A S110 ochoa E3 ubiquitin-protein ligase RNF19A (EC 2.3.2.31) (Double ring-finger protein) (Dorfin) (RING finger protein 19A) (p38) E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection. {ECO:0000269|PubMed:11237715, ECO:0000269|PubMed:12145308, ECO:0000269|PubMed:12750386, ECO:0000269|PubMed:15456787, ECO:0000269|PubMed:16513638}.
Q9NVI1 FANCI S559 psp Fanconi anemia group I protein (Protein FACI) Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites (PubMed:17412408, PubMed:17460694, PubMed:17452773, PubMed:19111657, PubMed:36385258). The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA (PubMed:19589784). Participates in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:25862789). {ECO:0000250|UniProtKB:B0I564, ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:25862789, ECO:0000269|PubMed:36385258}.
Q9NWH9 SLTM S374 ochoa SAFB-like transcription modulator (Modulator of estrogen-induced transcription) When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis. {ECO:0000250}.
Q9NX95 SYBU S226 ochoa Syntabulin (Golgi-localized syntaphilin-related protein) (Syntaxin-1-binding protein) Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development. {ECO:0000250, ECO:0000269|PubMed:15459722}.
Q9NXV6 CDKN2AIP S194 ochoa CDKN2A-interacting protein (Collaborator of ARF) Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence. {ECO:0000269|PubMed:15109303, ECO:0000269|PubMed:24825908}.
Q9NXV6 CDKN2AIP S211 ochoa CDKN2A-interacting protein (Collaborator of ARF) Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence. {ECO:0000269|PubMed:15109303, ECO:0000269|PubMed:24825908}.
Q9NXV6 CDKN2AIP S212 ochoa CDKN2A-interacting protein (Collaborator of ARF) Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence. {ECO:0000269|PubMed:15109303, ECO:0000269|PubMed:24825908}.
Q9NYB9 ABI2 S243 ochoa Abl interactor 2 (Abelson interactor 2) (Abi-2) (Abl-binding protein 3) (AblBP3) (Arg-binding protein 1) (ArgBP1) Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as a regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:10498863, PubMed:7590236, PubMed:8649853). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). {ECO:0000250|UniProtKB:P62484, ECO:0000269|PubMed:10498863, ECO:0000269|PubMed:15572692, ECO:0000269|PubMed:21107423, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}.
Q9NYJ8 TAB2 S350 ochoa TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2) Adapter required to activate the JNK and NF-kappa-B signaling pathways through the specific recognition of 'Lys-63'-linked polyubiquitin chains by its RanBP2-type zinc finger (NZF) (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158122, PubMed:27746020, PubMed:33184450, PubMed:36681779). Acts as an adapter linking MAP3K7/TAK1 and TRAF6 to 'Lys-63'-linked polyubiquitin chains (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158122, PubMed:27746020). The RanBP2-type zinc finger (NZF) specifically recognizes Lys-63'-linked polyubiquitin chains unanchored or anchored to the substrate proteins such as RIPK1/RIP1 and RIPK2: this acts as a scaffold to organize a large signaling complex to promote autophosphorylation of MAP3K7/TAK1, and subsequent activation of I-kappa-B-kinase (IKK) core complex by MAP3K7/TAK1 (PubMed:15327770, PubMed:18079694, PubMed:22158122). Also recognizes and binds Lys-63'-linked polyubiquitin chains of heterotypic 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains (PubMed:27746020). Regulates the IL1-mediated translocation of NCOR1 out of the nucleus (By similarity). Involved in heart development (PubMed:20493459). {ECO:0000250|UniProtKB:Q99K90, ECO:0000269|PubMed:10882101, ECO:0000269|PubMed:11460167, ECO:0000269|PubMed:15327770, ECO:0000269|PubMed:18079694, ECO:0000269|PubMed:20493459, ECO:0000269|PubMed:22158122, ECO:0000269|PubMed:27746020, ECO:0000269|PubMed:33184450, ECO:0000269|PubMed:36681779}.
Q9NYZ3 GTSE1 S480 ochoa G2 and S phase-expressed protein 1 (GTSE-1) (Protein B99 homolog) May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression.
Q9NZJ0 DTL S535 ochoa Denticleless protein homolog (DDB1- and CUL4-associated factor 2) (Lethal(2) denticleless protein homolog) (Retinoic acid-regulated nuclear matrix-associated protein) Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906, PubMed:16949367, PubMed:16964240, PubMed:17085480, PubMed:18703516, PubMed:18794347, PubMed:18794348, PubMed:19332548, PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (PubMed:16861906, PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (PubMed:18794348, PubMed:19332548). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration (PubMed:23478445). Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the 'Lys-164' monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). {ECO:0000269|PubMed:16861906, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240, ECO:0000269|PubMed:17085480, ECO:0000269|PubMed:18703516, ECO:0000269|PubMed:18794347, ECO:0000269|PubMed:18794348, ECO:0000269|PubMed:19332548, ECO:0000269|PubMed:20129063, ECO:0000269|PubMed:23478441, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:23677613, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:27906959}.
Q9NZJ5 EIF2AK3 S844 ochoa Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK) (Protein tyrosine kinase EIF2AK3) (EC 2.7.10.2) Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:10677345, PubMed:11907036, PubMed:12086964, PubMed:25925385, PubMed:31023583). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognizes and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation (PubMed:10677345, PubMed:27917829, PubMed:31023583). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:10026192, PubMed:10677345, PubMed:31023583, PubMed:33384352). The EIF2AK3/PERK-mediated unfolded protein response increases mitochondrial oxidative phosphorylation by promoting ATF4-mediated expression of COX7A2L/SCAF1, thereby increasing formation of respiratory chain supercomplexes (PubMed:31023583). In contrast to most subcellular compartments, mitochondria are protected from the EIF2AK3/PERK-mediated unfolded protein response due to EIF2AK3/PERK inhibition by ATAD3A at mitochondria-endoplasmic reticulum contact sites (PubMed:39116259). In addition to EIF2S1/eIF-2-alpha, also phosphorylates NFE2L2/NRF2 in response to stress, promoting release of NFE2L2/NRF2 from the BCR(KEAP1) complex, leading to nuclear accumulation and activation of NFE2L2/NRF2 (By similarity). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1) (By similarity). Involved in control of mitochondrial morphology and function (By similarity). {ECO:0000250|UniProtKB:Q9Z2B5, ECO:0000269|PubMed:10026192, ECO:0000269|PubMed:10677345, ECO:0000269|PubMed:11907036, ECO:0000269|PubMed:12086964, ECO:0000269|PubMed:25925385, ECO:0000269|PubMed:27917829, ECO:0000269|PubMed:31023583, ECO:0000269|PubMed:33384352, ECO:0000269|PubMed:39116259}.
Q9NZJ5 EIF2AK3 S845 ochoa Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK) (Protein tyrosine kinase EIF2AK3) (EC 2.7.10.2) Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:10677345, PubMed:11907036, PubMed:12086964, PubMed:25925385, PubMed:31023583). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognizes and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation (PubMed:10677345, PubMed:27917829, PubMed:31023583). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:10026192, PubMed:10677345, PubMed:31023583, PubMed:33384352). The EIF2AK3/PERK-mediated unfolded protein response increases mitochondrial oxidative phosphorylation by promoting ATF4-mediated expression of COX7A2L/SCAF1, thereby increasing formation of respiratory chain supercomplexes (PubMed:31023583). In contrast to most subcellular compartments, mitochondria are protected from the EIF2AK3/PERK-mediated unfolded protein response due to EIF2AK3/PERK inhibition by ATAD3A at mitochondria-endoplasmic reticulum contact sites (PubMed:39116259). In addition to EIF2S1/eIF-2-alpha, also phosphorylates NFE2L2/NRF2 in response to stress, promoting release of NFE2L2/NRF2 from the BCR(KEAP1) complex, leading to nuclear accumulation and activation of NFE2L2/NRF2 (By similarity). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1) (By similarity). Involved in control of mitochondrial morphology and function (By similarity). {ECO:0000250|UniProtKB:Q9Z2B5, ECO:0000269|PubMed:10026192, ECO:0000269|PubMed:10677345, ECO:0000269|PubMed:11907036, ECO:0000269|PubMed:12086964, ECO:0000269|PubMed:25925385, ECO:0000269|PubMed:27917829, ECO:0000269|PubMed:31023583, ECO:0000269|PubMed:33384352, ECO:0000269|PubMed:39116259}.
Q9NZQ3 NCKIPSD Y227 psp NCK-interacting protein with SH3 domain (54 kDa VacA-interacting protein) (54 kDa vimentin-interacting protein) (VIP54) (90 kDa SH3 protein interacting with Nck) (AF3p21) (Dia-interacting protein 1) (DIP-1) (Diaphanous protein-interacting protein) (SH3 adapter protein SPIN90) (WASP-interacting SH3-domain protein) (WISH) (Wiskott-Aldrich syndrome protein-interacting protein) Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis. {ECO:0000250, ECO:0000269|PubMed:22419821}.
Q9P0M6 MACROH2A2 S341 ochoa Core histone macro-H2A.2 (Histone macroH2A2) (mH2A2) Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation. {ECO:0000269|PubMed:15621527}.
Q9P0U3 SENP1 S80 ochoa Sentrin-specific protease 1 (EC 3.4.22.-) (Sentrin/SUMO-specific protease SENP1) Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:15487983, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins (PubMed:15487983). The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein (PubMed:15199155, PubMed:16253240, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:15199155, PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Inhibits N(6)-methyladenosine (m6A) RNA methylation by mediating SUMO1 deconjugation from METTL3 and ALKBH5: METTL3 inhibits the m6A RNA methyltransferase activity, while ALKBH5 desumoylation promotes m6A demethylation (PubMed:29506078, PubMed:34048572, PubMed:37257451). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844). {ECO:0000269|PubMed:10652325, ECO:0000269|PubMed:15199155, ECO:0000269|PubMed:15487983, ECO:0000269|PubMed:16253240, ECO:0000269|PubMed:16553580, ECO:0000269|PubMed:21829689, ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:23160374, ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:25406032, ECO:0000269|PubMed:29506078, ECO:0000269|PubMed:34048572, ECO:0000269|PubMed:37257451}.
Q9P0U3 SENP1 Y270 psp Sentrin-specific protease 1 (EC 3.4.22.-) (Sentrin/SUMO-specific protease SENP1) Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:15487983, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins (PubMed:15487983). The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein (PubMed:15199155, PubMed:16253240, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:15199155, PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Inhibits N(6)-methyladenosine (m6A) RNA methylation by mediating SUMO1 deconjugation from METTL3 and ALKBH5: METTL3 inhibits the m6A RNA methyltransferase activity, while ALKBH5 desumoylation promotes m6A demethylation (PubMed:29506078, PubMed:34048572, PubMed:37257451). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844). {ECO:0000269|PubMed:10652325, ECO:0000269|PubMed:15199155, ECO:0000269|PubMed:15487983, ECO:0000269|PubMed:16253240, ECO:0000269|PubMed:16553580, ECO:0000269|PubMed:21829689, ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:23160374, ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:25406032, ECO:0000269|PubMed:29506078, ECO:0000269|PubMed:34048572, ECO:0000269|PubMed:37257451}.
Q9P1Z3 HCN3 S562 ochoa Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions, with an about 3:1 preference for potassium ions (PubMed:16043489). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). In particular, plays a pivotal role in maintaining excitability and promoting rhythmic burst firing within hypothalamic nuclei. Exerts a significant influence on the configuration of the cardiac action potential waveform. Does not appear to play a prominent role in the processing of acute, neuropathic, or inflammatory pain (By similarity). {ECO:0000250|UniProtKB:O88705, ECO:0000269|PubMed:16043489}.
Q9P206 NHSL3 S418 ochoa NHS-like protein 3 Able to directly activate the TNF-NFkappaB signaling pathway. {ECO:0000269|PubMed:32854746}.
Q9P219 CCDC88C S239 ochoa Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2) Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426). {ECO:0000269|PubMed:26126266, ECO:0000269|PubMed:30948426}.
Q9P219 CCDC88C S1572 ochoa Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2) Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426). {ECO:0000269|PubMed:26126266, ECO:0000269|PubMed:30948426}.
Q9UBF9 MYOT S29 ochoa Myotilin (57 kDa cytoskeletal protein) (Myofibrillar titin-like Ig domains protein) (Titin immunoglobulin domain protein) Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269|PubMed:12499399}.
Q9UHB7 AFF4 S159 ochoa AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein) Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}.
Q9UHD9 UBQLN2 S127 ochoa Ubiquilin-2 (Chap1) (DSK2 homolog) (Protein linking IAP with cytoskeleton 2) (PLIC-2) (hPLIC-2) (Ubiquitin-like product Chap1/Dsk2) Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:18307982, PubMed:24215460). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683). {ECO:0000269|PubMed:10983987, ECO:0000269|PubMed:18199683, ECO:0000269|PubMed:18307982, ECO:0000269|PubMed:19148225, ECO:0000269|PubMed:20529957, ECO:0000269|PubMed:24215460}.
Q9UHR4 BAIAP2L1 S317 ochoa BAR/IMD domain-containing adapter protein 2-like 1 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1) (BAI1-associated protein 2-like protein 1) (Insulin receptor tyrosine kinase substrate) May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:22921828}.
Q9UHW9 SLC12A6 S37 ochoa Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3) [Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell volume homeostasis in single cells (PubMed:16048901, PubMed:27485015). {ECO:0000269|PubMed:10600773, ECO:0000269|PubMed:11551954, ECO:0000269|PubMed:16048901, ECO:0000269|PubMed:18566107, ECO:0000269|PubMed:19665974, ECO:0000269|PubMed:21628467, ECO:0000269|PubMed:27485015, ECO:0000305|PubMed:16048901}.; FUNCTION: [Isoform 2]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901, PubMed:33199848, PubMed:34031912). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:16048901, ECO:0000269|PubMed:33199848, ECO:0000269|PubMed:34031912, ECO:0000305|PubMed:16048901}.; FUNCTION: [Isoform 3]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:16048901, ECO:0000305|PubMed:16048901}.; FUNCTION: [Isoform 4]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:16048901, ECO:0000305|PubMed:16048901}.; FUNCTION: [Isoform 5]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:16048901, ECO:0000305|PubMed:16048901}.; FUNCTION: [Isoform 6]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:16048901, ECO:0000305|PubMed:16048901}.
Q9UJF2 RASAL2 S811 ochoa Ras GTPase-activating protein nGAP (RAS protein activator-like 2) Inhibitory regulator of the Ras-cyclic AMP pathway.
Q9UJQ4 SALL4 S126 ochoa Sal-like protein 4 (Zinc finger protein 797) (Zinc finger protein SALL4) Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. {ECO:0000269|PubMed:23012367}.
Q9UKA4 AKAP11 S1611 ochoa A-kinase anchor protein 11 (AKAP-11) (A-kinase anchor protein 220 kDa) (AKAP 220) (hAKAP220) (Protein kinase A-anchoring protein 11) (PRKA11) Binds to type II regulatory subunits of protein kinase A and anchors/targets them.
Q9UKV3 ACIN1 S698 ochoa Apoptotic chromatin condensation inducer in the nucleus (Acinus) Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}.
Q9ULC8 ZDHHC8 S629 ochoa Palmitoyltransferase ZDHHC8 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 8) (DHHC-8) (Zinc finger protein 378) Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes (Probable). Through the palmitoylation of ABCA1 regulates the localization of the transporter to the plasma membrane and thereby regulates its function in cholesterol and phospholipid efflux (Probable). Could also pamitoylate the D(2) dopamine receptor DRD2 and regulate its stability and localization to the plasma membrane (Probable). Could also play a role in glutamatergic transmission (By similarity). {ECO:0000250|UniProtKB:Q5Y5T5, ECO:0000305|PubMed:19556522, ECO:0000305|PubMed:23034182, ECO:0000305|PubMed:26535572}.; FUNCTION: (Microbial infection) Able to palmitoylate SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell. {ECO:0000269|PubMed:34599882}.
Q9ULC8 ZDHHC8 S630 ochoa Palmitoyltransferase ZDHHC8 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 8) (DHHC-8) (Zinc finger protein 378) Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes (Probable). Through the palmitoylation of ABCA1 regulates the localization of the transporter to the plasma membrane and thereby regulates its function in cholesterol and phospholipid efflux (Probable). Could also pamitoylate the D(2) dopamine receptor DRD2 and regulate its stability and localization to the plasma membrane (Probable). Could also play a role in glutamatergic transmission (By similarity). {ECO:0000250|UniProtKB:Q5Y5T5, ECO:0000305|PubMed:19556522, ECO:0000305|PubMed:23034182, ECO:0000305|PubMed:26535572}.; FUNCTION: (Microbial infection) Able to palmitoylate SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell. {ECO:0000269|PubMed:34599882}.
Q9ULE3 DENND2A S404 ochoa DENN domain-containing protein 2A Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport. {ECO:0000269|PubMed:20937701}.
Q9ULJ7 ANKRD50 S1183 ochoa Ankyrin repeat domain-containing protein 50 Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).
Q9UPM8 AP4E1 S665 ochoa AP-4 complex subunit epsilon-1 (AP-4 adaptor complex subunit epsilon) (Adaptor-related protein complex 4 subunit epsilon-1) (Epsilon subunit of AP-4) (Epsilon-adaptin) Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790, ECO:0000305|PubMed:10436028}.
Q9UPS6 SETD1B S284 ochoa Histone-lysine N-methyltransferase SETD1B (EC 2.1.1.364) (Lysine N-methyltransferase 2G) (SET domain-containing protein 1B) (hSET1B) Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity). {ECO:0000250|UniProtKB:Q8CFT2, ECO:0000269|PubMed:17355966, ECO:0000269|PubMed:25561738}.
Q9UPU9 SAMD4A S292 ochoa Protein Smaug homolog 1 (Smaug 1) (hSmaug1) (Sterile alpha motif domain-containing protein 4A) (SAM domain-containing protein 4A) Acts as a translational repressor of SRE-containing messengers. {ECO:0000269|PubMed:16221671}.
Q9UPW0 FOXJ3 S223 ochoa Forkhead box protein J3 Transcriptional activator of MEF2C involved in the regulation of adult muscle fiber type identity and skeletal muscle regeneration (By similarity). Plays an important role in spermatogenesis (By similarity). Required for the survival of spermatogonia and participates in spermatocyte meiosis (By similarity). {ECO:0000250|UniProtKB:Q8BUR3}.
Q9UPW6 SATB2 S453 ochoa DNA-binding protein SATB2 (Special AT-rich sequence-binding protein 2) Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation. {ECO:0000269|PubMed:14701874}.
Q9Y2K5 R3HDM2 S361 ochoa R3H domain-containing protein 2 None
Q9Y2M0 FAN1 S180 ochoa Fanconi-associated nuclease 1 (EC 3.1.21.-) (EC 3.1.4.1) (FANCD2/FANCI-associated nuclease 1) (hFAN1) (Myotubularin-related protein 15) Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866). {ECO:0000269|PubMed:20603015, ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156, ECO:0000269|PubMed:24981866, ECO:0000269|PubMed:25135477, ECO:0000269|PubMed:25430771}.
Q9Y343 SNX24 S122 ochoa Sorting nexin-24 May be involved in several stages of intracellular trafficking. {ECO:0000250}.
Q9Y3M8 STARD13 S336 ochoa StAR-related lipid transfer protein 13 (46H23.2) (Deleted in liver cancer 2 protein) (DLC-2) (Rho GTPase-activating protein) (START domain-containing protein 13) (StARD13) GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells. {ECO:0000269|PubMed:14697242, ECO:0000269|PubMed:16217026}.
Q9Y4B4 RAD54L2 S73 ochoa Helicase ARIP4 (EC 3.6.4.12) (Androgen receptor-interacting protein 4) (RAD54-like protein 2) DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity). {ECO:0000250}.
Q9Y4F4 TOGARAM1 S1078 ochoa TOG array regulator of axonemal microtubules protein 1 (Crescerin-1) (Protein FAM179B) Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity). {ECO:0000250|UniProtKB:Q17423, ECO:0000250|UniProtKB:Q6A070, ECO:0000269|PubMed:32453716}.
Q9Y4G8 RAPGEF2 S1325 ochoa Rap guanine nucleotide exchange factor 2 (Cyclic nucleotide ras GEF) (CNrasGEF) (Neural RAP guanine nucleotide exchange protein) (nRap GEP) (PDZ domain-containing guanine nucleotide exchange factor 1) (PDZ-GEF1) (RA-GEF-1) (Ras/Rap1-associating GEF-1) Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Also acts as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP (PubMed:23800469, PubMed:10801446) or not (PubMed:10548487, PubMed:10608844, PubMed:11359771). Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Also provides inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions. {ECO:0000269|PubMed:10548487, ECO:0000269|PubMed:10608844, ECO:0000269|PubMed:10608883, ECO:0000269|PubMed:10801446, ECO:0000269|PubMed:10934204, ECO:0000269|PubMed:11359771, ECO:0000269|PubMed:12391161, ECO:0000269|PubMed:16272156, ECO:0000269|PubMed:17724123, ECO:0000269|PubMed:21840392, ECO:0000269|PubMed:23800469}.
Q9Y5K3 PCYT1B S346 ochoa Choline-phosphate cytidylyltransferase B (EC 2.7.7.15) (CCT-beta) (CTP:phosphocholine cytidylyltransferase B) (CCT B) (CT B) (Phosphorylcholine transferase B) [Isoform 1]: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:10480912, ECO:0000269|PubMed:9593753}.; FUNCTION: [Isoform 2]: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:10480912}.
O94901 SUN1 S113 SIGNOR SUN domain-containing protein 1 (Protein unc-84 homolog A) (Sad1/unc-84 protein-like 1) As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton (PubMed:18039933, PubMed:18396275). The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration (By similarity). Involved in telomere attachment to nuclear envelope in the prophase of meiosis implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly (By similarity). Required for gametogenesis and involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis (By similarity). Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient localization of SYNE4 in the nuclear envelope (By similarity). May be involved in nuclear remodeling during sperm head formation in spermatogenesis (By similarity). May play a role in DNA repair by suppressing non-homologous end joining repair to facilitate the repair of DNA cross-links (PubMed:24375709). {ECO:0000250|UniProtKB:Q9D666, ECO:0000269|PubMed:18039933, ECO:0000269|PubMed:18396275, ECO:0000269|PubMed:24375709}.
P42684 ABL2 Y185 GPS6 Tyrosine-protein kinase ABL2 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 2) (Abelson tyrosine-protein kinase 2) (Abelson-related gene protein) (Tyrosine-protein kinase ARG) Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 also acts as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). {ECO:0000250|UniProtKB:Q4JIM5, ECO:0000269|PubMed:15735735, ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:18945674}.
P52742 ZNF135 S308 Sugiyama Zinc finger protein 135 (Zinc finger protein 61) (Zinc finger protein 78-like 1) Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation. {ECO:0000269|PubMed:21834987}.
P17612 PRKACA S260 GPS6 cAMP-dependent protein kinase catalytic subunit alpha (PKA C-alpha) (EC 2.7.11.11) Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:21085490, PubMed:21514275, PubMed:21812984, PubMed:31112131). Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA, SOX9 and VASP (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:21085490, PubMed:21514275, PubMed:21812984). Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (PubMed:21423175). RORA is activated by phosphorylation (PubMed:21514275). Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts (PubMed:19949837). Involved in chondrogenesis by mediating phosphorylation of SOX9 (By similarity). Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP (PubMed:15642694, PubMed:20356841). Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated (PubMed:17333334). RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+) (PubMed:17693412). PSMC5/RPT6 activation by phosphorylation stimulates proteasome (PubMed:17565987). Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation (PubMed:15905176). NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding (PubMed:15642694). Required for phosphorylation of GLI transcription factors which inhibits them and prevents transcriptional activation of Hedgehog signaling pathway target genes (By similarity). GLI transcription factor phosphorylation is inhibited by interaction of PRKACA with SMO which sequesters PRKACA at the cell membrane (By similarity). Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis most probably through the regulation of OFD1 in ciliogenesis (PubMed:33934390). Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation (By similarity). May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT) (By similarity). Phosphorylates APOBEC3G and AICDA (PubMed:16387847, PubMed:18836454). Phosphorylates HSF1; this phosphorylation promotes HSF1 nuclear localization and transcriptional activity upon heat shock (PubMed:21085490). Acts as a negative regulator of mTORC1 by mediating phosphorylation of RPTOR (PubMed:31112131). {ECO:0000250|UniProtKB:P05132, ECO:0000250|UniProtKB:P27791, ECO:0000269|PubMed:15642694, ECO:0000269|PubMed:15905176, ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:17333334, ECO:0000269|PubMed:17565987, ECO:0000269|PubMed:17693412, ECO:0000269|PubMed:18836454, ECO:0000269|PubMed:19949837, ECO:0000269|PubMed:20356841, ECO:0000269|PubMed:21085490, ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:21514275, ECO:0000269|PubMed:21812984, ECO:0000269|PubMed:31112131, ECO:0000269|PubMed:33934390}.; FUNCTION: [Isoform 2]: Phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation. {ECO:0000250|UniProtKB:P05132}.
Q13002 GRIK2 S697 ELM Glutamate receptor ionotropic, kainate 2 (GluK2) (Excitatory amino acid receptor 4) (EAA4) (Glutamate receptor 6) (GluR-6) (GluR6) Ionotropic glutamate receptor that functions as a cation permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:14511640, PubMed:28180184, PubMed:34375587, PubMed:7536611, PubMed:8730589). Modulates cell surface expression of NETO2. In association with GRIK3, involved in presynaptic facilitation of glutamate release at hippocampal mossy fiber synapses (By similarity). {ECO:0000250|UniProtKB:P39087, ECO:0000269|PubMed:14511640, ECO:0000269|PubMed:28180184, ECO:0000269|PubMed:34375587, ECO:0000269|PubMed:7536611, ECO:0000269|PubMed:8730589}.; FUNCTION: Independent of its ionotropic glutamate receptor activity, acts as a thermoreceptor conferring sensitivity to cold temperatures (PubMed:31474366). Functions in dorsal root ganglion neurons (By similarity). {ECO:0000250|UniProtKB:P39087, ECO:0000269|PubMed:31474366}.
Q01518 CAP1 S431 Sugiyama Adenylyl cyclase-associated protein 1 (CAP 1) Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.
Q5T4S7 UBR4 S2932 EPSD|PSP E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (p600) (N-recognin-4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600) E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm (PubMed:25582440, PubMed:29033132, PubMed:34893540, PubMed:37891180, PubMed:38030679, PubMed:38182926, PubMed:38297121). Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation (PubMed:34893540, PubMed:37891180, PubMed:38030679). Recognizes both type-1 and type-2 N-degrons, containing positively charged amino acids (Arg, Lys and His) and bulky and hydrophobic amino acids, respectively (PubMed:38030679). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:37891180). Together with UBR5, part of a cytoplasm protein quality control pathway that prevents protein aggregation by catalyzing assembly of heterotypic 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on aggregated proteins, leading to substrate recognition by the segregase p97/VCP and degradation by the proteasome: UBR4 probably synthesizes mixed chains containing multiple linkages, while UBR5 is likely branching multiple 'Lys-48'-linked chains of substrates initially modified (PubMed:29033132). Together with KCMF1, part of a protein quality control pathway that catalyzes ubiquitination and degradation of proteins that have been oxidized in response to reactive oxygen species (ROS): recognizes proteins with an Arg-CysO3(H) degron at the N-terminus, and mediates assembly of heterotypic 'Lys-63'-/'Lys-27'-linked branched ubiquitin chains on oxidized proteins, leading to their degradation by autophagy (PubMed:34893540). Catalytic component of the SIFI complex, a multiprotein complex required to inhibit the mitochondrial stress response after a specific stress event has been resolved: ubiquitinates and degrades (1) components of the HRI-mediated signaling of the integrated stress response, such as DELE1 and EIF2AK1/HRI, as well as (2) unimported mitochondrial precursors (PubMed:38297121). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121). Mediates ubiquitination of ACLY, leading to its subsequent degradation (PubMed:23932781). Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization (PubMed:16214886). {ECO:0000269|PubMed:16214886, ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:25582440, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:34893540, ECO:0000269|PubMed:37891180, ECO:0000269|PubMed:38030679, ECO:0000269|PubMed:38182926, ECO:0000269|PubMed:38297121}.
P51813 BMX S208 Sugiyama Cytoplasmic tyrosine-protein kinase BMX (EC 2.7.10.2) (Bone marrow tyrosine kinase gene in chromosome X protein) (Epithelial and endothelial tyrosine kinase) (ETK) (NTK38) Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Also plays a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells. {ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:11331870, ECO:0000269|PubMed:12370298, ECO:0000269|PubMed:12832404, ECO:0000269|PubMed:15788485, ECO:0000269|PubMed:18292575, ECO:0000269|PubMed:9520419}.
Q9UBK2 PPARGC1A S539 SIGNOR Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1-alpha) (PPAR-gamma coactivator 1-alpha) (PPARGC-1-alpha) (Ligand effect modulator 6) Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:10713165, PubMed:20005308, PubMed:21376232, PubMed:28363985, PubMed:32433991). Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter (PubMed:10713165, PubMed:20005308, PubMed:21376232). Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis (PubMed:10713165, PubMed:20005308, PubMed:21376232). Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism (PubMed:10713165, PubMed:20005308, PubMed:21376232). Acts as a key regulator of gluconeogenesis: stimulates hepatic gluconeogenesis by increasing the expression of gluconeogenic enzymes, and acting together with FOXO1 to promote the fasting gluconeogenic program (PubMed:16753578, PubMed:23142079). Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner (PubMed:23836911). Also involved in the integration of the circadian rhythms and energy metabolism (By similarity). Required for oscillatory expression of clock genes, such as BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK (By similarity). {ECO:0000250|UniProtKB:O70343, ECO:0000269|PubMed:10713165, ECO:0000269|PubMed:16753578, ECO:0000269|PubMed:20005308, ECO:0000269|PubMed:21376232, ECO:0000269|PubMed:23142079, ECO:0000269|PubMed:23836911, ECO:0000269|PubMed:28363985, ECO:0000269|PubMed:32433991}.
Q9H8Y5 ANKZF1 S126 Sugiyama tRNA endonuclease ANKZF1 (EC 3.1.-.-) (Ankyrin repeat and zinc finger domain-containing protein 1) (Zinc finger protein 744) Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation (PubMed:29632312, PubMed:30244831, PubMed:31011209). The RQC pathway disassembles aberrantly stalled translation complexes to recycle or degrade the constituent parts (PubMed:29632312, PubMed:30244831, PubMed:31011209). ANKZF1 acts downstream disassembly of stalled ribosomes and specifically cleaves off the terminal 3'-CCA nucleotides universal to all tRNAs from polypeptidyl-tRNAs, releasing (1) ubiquitinated polypeptides from 60S ribosomal subunit for degradation and (2) cleaved tRNAs (PubMed:31011209). ANKZF1-cleaved tRNAs are then repaired and recycled by ELAC1 and TRNT1 (PubMed:31011209, PubMed:32075755). Also plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). {ECO:0000269|PubMed:28302725, ECO:0000269|PubMed:29632312, ECO:0000269|PubMed:30244831, ECO:0000269|PubMed:31011209, ECO:0000269|PubMed:32075755}.
Q08881 ITK S533 Sugiyama Tyrosine-protein kinase ITK/TSK (EC 2.7.10.2) (Interleukin-2-inducible T-cell kinase) (IL-2-inducible T-cell kinase) (Kinase EMT) (T-cell-specific kinase) (Tyrosine-protein kinase Lyk) Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Required for TCR-mediated calcium response in gamma-delta T-cells, may also be involved in the modulation of the transcriptomic signature in the Vgamma2-positive subset of immature gamma-delta T-cells (By similarity). Phosphorylates TBX21 at 'Tyr-530' and mediates its interaction with GATA3 (By similarity). {ECO:0000250|UniProtKB:Q03526, ECO:0000269|PubMed:12186560, ECO:0000269|PubMed:12682224, ECO:0000269|PubMed:21725281}.
P08151 GLI1 S543 GPS6 Zinc finger protein GLI1 (Glioma-associated oncogene) (Oncogene GLI) Acts as a transcriptional activator (PubMed:10806483, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:8378770). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407). {ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:2105456, ECO:0000269|PubMed:24076122, ECO:0000269|PubMed:24217340, ECO:0000269|PubMed:24311597, ECO:0000269|PubMed:28973407, ECO:0000269|PubMed:8378770}.; FUNCTION: [Isoform 2]: Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration. {ECO:0000269|PubMed:19706761}.
Q9BWU1 CDK19 Y458 Sugiyama Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-related protein kinase 6) (Cell division cycle 2-like protein kinase 6) (Cell division protein kinase 19) (Cyclin-dependent kinase 11) (Death-preventing kinase) None
Q9H2X6 HIPK2 S1013 Sugiyama Homeodomain-interacting protein kinase 2 (hHIPk2) (EC 2.7.11.1) Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1, ZBTB4 and DAZAP2. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. In response to DNA damage, phosphorylates DAZAP2 which localizes DAZAP2 to the nucleus, reduces interaction of DAZAP2 with HIPK2 and prevents DAZAP2-dependent ubiquitination of HIPK2 by E3 ubiquitin-protein ligase SIAH1 and subsequent proteasomal degradation (PubMed:33591310). Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. {ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404, ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875, ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579, ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997, ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497, ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728, ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925, ECO:0000269|PubMed:22825850, ECO:0000269|PubMed:33591310}.
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reactome_id name p -log10_p
R-HSA-383280 Nuclear Receptor transcription pathway 8.335999e-12 11.079
R-HSA-428890 Role of ABL in ROBO-SLIT signaling 5.479581e-06 5.261
R-HSA-9931510 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock gene... 1.600308e-05 4.796
R-HSA-9931521 The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CL... 1.486728e-05 4.828
R-HSA-428359 Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RN... 1.917479e-05 4.717
R-HSA-9933387 RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression 3.361835e-05 4.473
R-HSA-9909396 Circadian clock 8.400680e-05 4.076
R-HSA-9931509 Expression of BMAL (ARNTL), CLOCK, and NPAS2 1.523115e-04 3.817
R-HSA-9931512 Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters 5.317636e-04 3.274
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation 1.363151e-03 2.865
R-HSA-9707616 Heme signaling 1.764858e-03 2.753
R-HSA-9010642 ROBO receptors bind AKAP5 2.549558e-03 2.594
R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid ce... 2.549558e-03 2.594
R-HSA-111465 Apoptotic cleavage of cellular proteins 2.507225e-03 2.601
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian expression 3.458445e-03 2.461
R-HSA-9761174 Formation of intermediate mesoderm 4.061837e-03 2.391
R-HSA-5621575 CD209 (DC-SIGN) signaling 6.418646e-03 2.193
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis 6.456179e-03 2.190
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins 6.718276e-03 2.173
R-HSA-9707564 Cytoprotection by HMOX1 7.245279e-03 2.140
R-HSA-2426168 Activation of gene expression by SREBF (SREBP) 8.170863e-03 2.088
R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells 9.522209e-03 2.021
R-HSA-1989781 PPARA activates gene expression 1.035819e-02 1.985
R-HSA-8940973 RUNX2 regulates osteoblast differentiation 9.828799e-03 2.007
R-HSA-9917777 Epigenetic regulation by WDR5-containing histone modifying complexes 9.979405e-03 2.001
R-HSA-9843745 Adipogenesis 1.039988e-02 1.983
R-HSA-8963896 HDL assembly 9.871665e-03 2.006
R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression 9.871665e-03 2.006
R-HSA-75153 Apoptotic execution phase 1.066112e-02 1.972
R-HSA-400206 Regulation of lipid metabolism by PPARalpha 1.114849e-02 1.953
R-HSA-8941284 RUNX2 regulates chondrocyte maturation 1.275741e-02 1.894
R-HSA-9634600 Regulation of glycolysis by fructose 2,6-bisphosphate metabolism 1.307382e-02 1.884
R-HSA-73857 RNA Polymerase II Transcription 1.280788e-02 1.893
R-HSA-212436 Generic Transcription Pathway 1.317221e-02 1.880
R-HSA-9018519 Estrogen-dependent gene expression 1.318030e-02 1.880
R-HSA-5467333 APC truncation mutants are not K63 polyubiquitinated 2.386828e-02 1.622
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcription 1.640181e-02 1.785
R-HSA-9614657 FOXO-mediated transcription of cell death genes 1.886597e-02 1.724
R-HSA-9709603 Impaired BRCA2 binding to PALB2 2.106412e-02 1.676
R-HSA-9701193 Defective homologous recombination repair (HRR) due to PALB2 loss of function 2.339665e-02 1.631
R-HSA-9704331 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 2.339665e-02 1.631
R-HSA-9701192 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 2.339665e-02 1.631
R-HSA-9704646 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of... 2.339665e-02 1.631
R-HSA-9841922 MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesi... 2.191670e-02 1.659
R-HSA-9851695 Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes 2.191670e-02 1.659
R-HSA-9818564 Epigenetic regulation of gene expression by MLL3 and MLL4 complexes 2.191670e-02 1.659
R-HSA-8941326 RUNX2 regulates bone development 2.128350e-02 1.672
R-HSA-8853659 RET signaling 2.128350e-02 1.672
R-HSA-5693537 Resolution of D-Loop Structures 1.684540e-02 1.774
R-HSA-5674499 Negative feedback regulation of MAPK pathway 1.640181e-02 1.785
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates 1.550739e-02 1.809
R-HSA-163358 PKA-mediated phosphorylation of key metabolic factors 1.640181e-02 1.785
R-HSA-9022692 Regulation of MECP2 expression and activity 1.550739e-02 1.809
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes 1.921074e-02 1.716
R-HSA-392517 Rap1 signalling 2.106412e-02 1.676
R-HSA-69273 Cyclin A/B1/B2 associated events during G2/M transition 1.550739e-02 1.809
R-HSA-162582 Signal Transduction 2.210681e-02 1.655
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF) 2.019121e-02 1.695
R-HSA-9726840 SHOC2 M1731 mutant abolishes MRAS complex function 2.483385e-02 1.605
R-HSA-8939902 Regulation of RUNX2 expression and activity 2.724942e-02 1.565
R-HSA-1660499 Synthesis of PIPs at the plasma membrane 2.872993e-02 1.542
R-HSA-9660537 Signaling by MRAS-complex mutants 2.958127e-02 1.529
R-HSA-9726842 Gain-of-function MRAS complexes activate RAF signaling 2.958127e-02 1.529
R-HSA-350054 Notch-HLH transcription pathway 3.119892e-02 1.506
R-HSA-2025928 Calcineurin activates NFAT 3.465735e-02 1.460
R-HSA-9648895 Response of EIF2AK1 (HRI) to heme deficiency 3.406619e-02 1.468
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer 3.406619e-02 1.468
R-HSA-9670621 Defective Inhibition of DNA Recombination at Telomere 4.716829e-02 1.326
R-HSA-9673013 Diseases of Telomere Maintenance 4.716829e-02 1.326
R-HSA-9006821 Alternative Lengthening of Telomeres (ALT) 4.716829e-02 1.326
R-HSA-9670615 Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations 4.716829e-02 1.326
R-HSA-9670613 Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations 4.716829e-02 1.326
R-HSA-5545483 Defective Mismatch Repair Associated With MLH1 4.716829e-02 1.326
R-HSA-5632987 Defective Mismatch Repair Associated With PMS2 4.716829e-02 1.326
R-HSA-9763198 Impaired BRCA2 binding to SEM1 (DSS1) 4.716829e-02 1.326
R-HSA-9709275 Impaired BRCA2 translocation to the nucleus 4.716829e-02 1.326
R-HSA-451308 Activation of Ca-permeable Kainate Receptor 4.004378e-02 1.397
R-HSA-8941332 RUNX2 regulates genes involved in cell migration 4.572295e-02 1.340
R-HSA-451306 Ionotropic activity of kainate receptors 4.572295e-02 1.340
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SD... 4.019510e-02 1.396
R-HSA-8878166 Transcriptional regulation by RUNX2 4.469696e-02 1.350
R-HSA-8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's dis... 3.706530e-02 1.431
R-HSA-8863678 Neurodegenerative Diseases 3.706530e-02 1.431
R-HSA-1592230 Mitochondrial biogenesis 4.181729e-02 1.379
R-HSA-9734009 Defective Intrinsic Pathway for Apoptosis 4.684133e-02 1.329
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of lig... 3.867554e-02 1.413
R-HSA-74160 Gene expression (Transcription) 4.229829e-02 1.374
R-HSA-9675135 Diseases of DNA repair 4.325770e-02 1.364
R-HSA-3247509 Chromatin modifying enzymes 4.710968e-02 1.327
R-HSA-376176 Signaling by ROBO receptors 4.577940e-02 1.339
R-HSA-8963898 Plasma lipoprotein assembly 3.706530e-02 1.431
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription 5.084378e-02 1.294
R-HSA-9623433 NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis 5.167789e-02 1.287
R-HSA-418359 Reduction of cytosolic Ca++ levels 5.167789e-02 1.287
R-HSA-381183 ATF6 (ATF6-alpha) activates chaperone genes 5.167789e-02 1.287
R-HSA-9931530 Phosphorylation and nuclear translocation of the CRY:PER:kinase complex 5.789226e-02 1.237
R-HSA-8941856 RUNX3 regulates NOTCH signaling 5.789226e-02 1.237
R-HSA-9617629 Regulation of FOXO transcriptional activity by acetylation 5.789226e-02 1.237
R-HSA-5693532 DNA Double-Strand Break Repair 5.830775e-02 1.234
R-HSA-9005891 Loss of function of MECP2 in Rett syndrome 5.789226e-02 1.237
R-HSA-9697154 Disorders of Nervous System Development 5.789226e-02 1.237
R-HSA-9005895 Pervasive developmental disorders 5.789226e-02 1.237
R-HSA-418360 Platelet calcium homeostasis 5.399233e-02 1.268
R-HSA-176034 Interactions of Tat with host cellular proteins 6.991353e-02 1.155
R-HSA-5619039 Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neurop... 6.991353e-02 1.155
R-HSA-9672391 Defective F8 cleavage by thrombin 9.211718e-02 1.036
R-HSA-451307 Activation of Na-permeable kainate receptors 1.137921e-01 0.944
R-HSA-8941237 Invadopodia formation 1.137921e-01 0.944
R-HSA-5660489 MTF1 activates gene expression 1.349508e-01 0.870
R-HSA-1296061 HCN channels 1.349508e-01 0.870
R-HSA-165181 Inhibition of TSC complex formation by PKB 1.349508e-01 0.870
R-HSA-9818035 NFE2L2 regulating ER-stress associated genes 1.349508e-01 0.870
R-HSA-8952158 RUNX3 regulates BCL2L11 (BIM) transcription 1.349508e-01 0.870
R-HSA-9818026 NFE2L2 regulating inflammation associated genes 1.556057e-01 0.808
R-HSA-9673768 Signaling by membrane-tethered fusions of PDGFRA or PDGFRB 1.556057e-01 0.808
R-HSA-9022535 Loss of phosphorylation of MECP2 at T308 1.556057e-01 0.808
R-HSA-5340588 Signaling by RNF43 mutants 1.757686e-01 0.755
R-HSA-9022537 Loss of MECP2 binding ability to the NCoR/SMRT complex 1.757686e-01 0.755
R-HSA-3656244 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) 1.954512e-01 0.709
R-HSA-3656243 Defective ST3GAL3 causes MCT12 and EIEE15 1.954512e-01 0.709
R-HSA-3656225 Defective CHST6 causes MCDC1 1.954512e-01 0.709
R-HSA-9732724 IFNG signaling activates MAPKs 2.146650e-01 0.668
R-HSA-111367 SLBP independent Processing of Histone Pre-mRNAs 2.146650e-01 0.668
R-HSA-9031528 NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipo... 2.146650e-01 0.668
R-HSA-9031525 NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake 2.146650e-01 0.668
R-HSA-114516 Disinhibition of SNARE formation 2.146650e-01 0.668
R-HSA-9632974 NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis 2.146650e-01 0.668
R-HSA-446107 Type I hemidesmosome assembly 2.334211e-01 0.632
R-HSA-9768778 Regulation of NPAS4 mRNA translation 2.334211e-01 0.632
R-HSA-196025 Formation of annular gap junctions 2.334211e-01 0.632
R-HSA-9818032 NFE2L2 regulating MDR associated enzymes 2.517304e-01 0.599
R-HSA-201688 WNT mediated activation of DVL 2.517304e-01 0.599
R-HSA-190873 Gap junction degradation 2.517304e-01 0.599
R-HSA-9700645 ALK mutants bind TKIs 2.517304e-01 0.599
R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 2.696035e-01 0.569
R-HSA-2151209 Activation of PPARGC1A (PGC-1alpha) by phosphorylation 2.696035e-01 0.569
R-HSA-9701190 Defective homologous recombination repair (HRR) due to BRCA2 loss of function 7.831606e-02 1.106
R-HSA-9938206 Developmental Lineage of Mammary Stem Cells 1.475458e-01 0.831
R-HSA-9759811 Regulation of CDH11 mRNA translation by microRNAs 2.870507e-01 0.542
R-HSA-4839744 Signaling by APC mutants 2.870507e-01 0.542
R-HSA-5467340 AXIN missense mutants destabilize the destruction complex 2.870507e-01 0.542
R-HSA-5467337 APC truncation mutants have impaired AXIN binding 2.870507e-01 0.542
R-HSA-5467348 Truncations of AMER1 destabilize the destruction complex 2.870507e-01 0.542
R-HSA-5339716 Signaling by GSK3beta mutants 3.040822e-01 0.517
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription 3.207078e-01 0.494
R-HSA-9820865 Z-decay: degradation of maternal mRNAs by zygotically expressed factors 3.207078e-01 0.494
R-HSA-4839743 Signaling by CTNNB1 phospho-site mutants 3.207078e-01 0.494
R-HSA-5358747 CTNNB1 S33 mutants aren't phosphorylated 3.207078e-01 0.494
R-HSA-5358752 CTNNB1 T41 mutants aren't phosphorylated 3.207078e-01 0.494
R-HSA-5358751 CTNNB1 S45 mutants aren't phosphorylated 3.207078e-01 0.494
R-HSA-5358749 CTNNB1 S37 mutants aren't phosphorylated 3.207078e-01 0.494
R-HSA-9029558 NR1H2 & NR1H3 regulate gene expression linked to lipogenesis 3.369373e-01 0.472
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF) 3.369373e-01 0.472
R-HSA-9709570 Impaired BRCA2 binding to RAD51 2.075850e-01 0.683
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants 1.436497e-01 0.843
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF 1.436497e-01 0.843
R-HSA-9649948 Signaling downstream of RAS mutants 1.436497e-01 0.843
R-HSA-8948700 Competing endogenous RNAs (ceRNAs) regulate PTEN translation 3.682451e-01 0.434
R-HSA-196299 Beta-catenin phosphorylation cascade 3.682451e-01 0.434
R-HSA-9029569 NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflu... 2.149697e-01 0.668
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants 2.874001e-01 0.542
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory si... 1.943031e-01 0.712
R-HSA-141424 Amplification of signal from the kinetochores 1.943031e-01 0.712
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centr... 2.466130e-01 0.608
R-HSA-380259 Loss of Nlp from mitotic centrosomes 2.466130e-01 0.608
R-HSA-6802952 Signaling by BRAF and RAF1 fusions 2.594714e-01 0.586
R-HSA-9656223 Signaling by RAF1 mutants 3.315721e-01 0.479
R-HSA-8854518 AURKA Activation by TPX2 2.659339e-01 0.575
R-HSA-9909620 Regulation of PD-L1(CD274) translation 4.535946e-01 0.343
R-HSA-9934037 Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) 4.535946e-01 0.343
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes 3.115796e-01 0.506
R-HSA-380287 Centrosome maturation 3.246880e-01 0.489
R-HSA-5693571 Nonhomologous End-Joining (NHEJ) 3.919768e-01 0.407
R-HSA-9024446 NR1H2 and NR1H3-mediated signaling 3.377965e-01 0.471
R-HSA-112382 Formation of RNA Pol II elongation complex 4.253906e-01 0.371
R-HSA-6807505 RNA polymerase II transcribes snRNA genes 4.028432e-01 0.395
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes 4.156640e-01 0.381
R-HSA-9818030 NFE2L2 regulating tumorigenic genes 3.369373e-01 0.472
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription 2.163803e-01 0.665
R-HSA-6802957 Oncogenic MAPK signaling 1.894496e-01 0.723
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription 1.311312e-01 0.882
R-HSA-5620912 Anchoring of the basal body to the plasma membrane 2.191184e-01 0.659
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange 8.276484e-02 1.082
R-HSA-5610780 Degradation of GLI1 by the proteasome 1.167286e-01 0.933
R-HSA-5685938 HDR through Single Strand Annealing (SSA) 2.429355e-01 0.615
R-HSA-5674135 MAP2K and MAPK activation 3.315721e-01 0.479
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange 9.673770e-02 1.014
R-HSA-9675136 Diseases of DNA Double-Strand Break Repair 7.831606e-02 1.106
R-HSA-6802949 Signaling by RAS mutants 1.436497e-01 0.843
R-HSA-9839394 TGFBR3 expression 1.728712e-01 0.762
R-HSA-937039 IRAK1 recruits IKK complex 3.207078e-01 0.494
R-HSA-975144 IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation 3.207078e-01 0.494
R-HSA-5685942 HDR through Homologous Recombination (HRR) 1.101577e-01 0.958
R-HSA-8856828 Clathrin-mediated endocytosis 1.969623e-01 0.706
R-HSA-4641265 Repression of WNT target genes 3.207078e-01 0.494
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane 1.901198e-01 0.721
R-HSA-9614085 FOXO-mediated transcription 1.301271e-01 0.886
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) 8.759815e-02 1.058
R-HSA-426496 Post-transcriptional silencing by small RNAs 1.556057e-01 0.808
R-HSA-442720 CREB1 phosphorylation through the activation of Adenylate Cyclase 6.435037e-02 1.191
R-HSA-8849473 PTK6 Expression 2.146650e-01 0.668
R-HSA-77588 SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs 2.334211e-01 0.632
R-HSA-5673000 RAF activation 7.831606e-02 1.106
R-HSA-451326 Activation of kainate receptors upon glutamate binding 1.988291e-01 0.702
R-HSA-6783310 Fanconi Anemia Pathway 1.381090e-01 0.860
R-HSA-9764562 Regulation of CDH1 mRNA translation by microRNAs 3.527800e-01 0.452
R-HSA-9664420 Killing mechanisms 3.833416e-01 0.416
R-HSA-9673324 WNT5:FZD7-mediated leishmania damping 3.833416e-01 0.416
R-HSA-416993 Trafficking of GluR2-containing AMPA receptors 4.265061e-01 0.370
R-HSA-9927418 Developmental Lineage of Mammary Gland Luminal Epithelial Cells 3.403244e-01 0.468
R-HSA-5619507 Activation of HOX genes during differentiation 3.083940e-01 0.511
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogen... 3.083940e-01 0.511
R-HSA-4791275 Signaling by WNT in cancer 2.340619e-01 0.631
R-HSA-75955 RNA Polymerase II Transcription Elongation 4.335955e-01 0.363
R-HSA-9031628 NGF-stimulated transcription 3.919768e-01 0.407
R-HSA-5693538 Homology Directed Repair 1.032813e-01 0.986
R-HSA-9614399 Regulation of localization of FOXO transcription factors 2.870507e-01 0.542
R-HSA-75035 Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex 3.369373e-01 0.472
R-HSA-9933937 Formation of the canonical BAF (cBAF) complex 3.527800e-01 0.452
R-HSA-9933946 Formation of the embryonic stem cell BAF (esBAF) complex 3.682451e-01 0.434
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not kno... 2.429355e-01 0.615
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis 1.482450e-01 0.829
R-HSA-9012852 Signaling by NOTCH3 1.964303e-01 0.707
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at... 2.212309e-01 0.655
R-HSA-111931 PKA-mediated phosphorylation of CREB 1.311312e-01 0.882
R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor 3.040822e-01 0.517
R-HSA-432722 Golgi Associated Vesicle Biogenesis 1.843010e-01 0.734
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 2.275284e-01 0.643
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer 2.275284e-01 0.643
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer 2.275284e-01 0.643
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants 2.275284e-01 0.643
R-HSA-6807070 PTEN Regulation 1.789332e-01 0.747
R-HSA-69618 Mitotic Spindle Checkpoint 2.815733e-01 0.550
R-HSA-9615017 FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes 1.167286e-01 0.933
R-HSA-5675221 Negative regulation of MAPK pathway 1.167286e-01 0.933
R-HSA-5358508 Mismatch Repair 4.265061e-01 0.370
R-HSA-9657688 Defective factor XII causes hereditary angioedema 9.211718e-02 1.036
R-HSA-111446 Activation of BIM and translocation to mitochondria 1.137921e-01 0.944
R-HSA-187024 NGF-independant TRKA activation 1.757686e-01 0.755
R-HSA-69478 G2/M DNA replication checkpoint 1.954512e-01 0.709
R-HSA-163615 PKA activation 1.074109e-01 0.969
R-HSA-164378 PKA activation in glucagon signalling 1.074109e-01 0.969
R-HSA-428543 Inactivation of CDC42 and RAC1 2.517304e-01 0.599
R-HSA-9014325 TICAM1,TRAF6-dependent induction of TAK1 complex 2.696035e-01 0.569
R-HSA-2468052 Establishment of Sister Chromatid Cohesion 2.696035e-01 0.569
R-HSA-9818028 NFE2L2 regulates pentose phosphate pathway genes 3.040822e-01 0.517
R-HSA-4839735 Signaling by AXIN mutants 3.040822e-01 0.517
R-HSA-4839748 Signaling by AMER1 mutants 3.040822e-01 0.517
R-HSA-9927432 Developmental Lineage of Mammary Gland Myoepithelial Cells 2.075850e-01 0.683
R-HSA-1250196 SHC1 events in ERBB2 signaling 2.163803e-01 0.665
R-HSA-937072 TRAF6-mediated induction of TAK1 complex within TLR4 complex 3.682451e-01 0.434
R-HSA-4086400 PCP/CE pathway 1.566619e-01 0.805
R-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) 4.124636e-01 0.385
R-HSA-4641263 Regulation of FZD by ubiquitination 4.124636e-01 0.385
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants 4.265061e-01 0.370
R-HSA-181429 Serotonin Neurotransmitter Release Cycle 4.265061e-01 0.370
R-HSA-69473 G2/M DNA damage checkpoint 3.181328e-01 0.497
R-HSA-165159 MTOR signalling 1.219506e-01 0.914
R-HSA-5693606 DNA Double Strand Break Response 2.724154e-01 0.565
R-HSA-212165 Epigenetic regulation of gene expression 1.313160e-01 0.882
R-HSA-170968 Frs2-mediated activation 3.369373e-01 0.472
R-HSA-1912408 Pre-NOTCH Transcription and Translation 4.347246e-01 0.362
R-HSA-69481 G2/M Checkpoints 2.609885e-01 0.583
R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) 4.124636e-01 0.385
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation 4.456256e-01 0.351
R-HSA-195721 Signaling by WNT 2.432094e-01 0.614
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK 2.163803e-01 0.665
R-HSA-9843743 Transcriptional regulation of brown and beige adipocyte differentiation 3.139738e-01 0.503
R-HSA-9844594 Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 3.139738e-01 0.503
R-HSA-9006931 Signaling by Nuclear Receptors 2.199502e-01 0.658
R-HSA-169893 Prolonged ERK activation events 3.833416e-01 0.416
R-HSA-180024 DARPP-32 events 2.075850e-01 0.683
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition 1.846358e-01 0.734
R-HSA-140875 Common Pathway of Fibrin Clot Formation 4.535946e-01 0.343
R-HSA-3858494 Beta-catenin independent WNT signaling 1.684525e-01 0.774
R-HSA-3214841 PKMTs methylate histone lysines 1.115935e-01 0.952
R-HSA-1257604 PIP3 activates AKT signaling 3.525739e-01 0.453
R-HSA-5610787 Hedgehog 'off' state 2.815733e-01 0.550
R-HSA-1253288 Downregulation of ERBB4 signaling 2.334211e-01 0.632
R-HSA-937042 IRAK2 mediated activation of TAK1 complex 2.517304e-01 0.599
R-HSA-9772755 Formation of WDR5-containing histone-modifying complexes 8.276484e-02 1.082
R-HSA-5357956 TNFR1-induced NF-kappa-B signaling pathway 1.901198e-01 0.721
R-HSA-975163 IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation 3.527800e-01 0.452
R-HSA-8943724 Regulation of PTEN gene transcription 2.275284e-01 0.643
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR) 2.919517e-01 0.535
R-HSA-201681 TCF dependent signaling in response to WNT 3.628072e-01 0.440
R-HSA-69275 G2/M Transition 6.378022e-02 1.195
R-HSA-453274 Mitotic G2-G2/M phases 6.686008e-02 1.175
R-HSA-166208 mTORC1-mediated signalling 1.475458e-01 0.831
R-HSA-2559585 Oncogene Induced Senescence 2.696164e-01 0.569
R-HSA-73894 DNA Repair 8.078463e-02 1.093
R-HSA-9768759 Regulation of NPAS4 gene expression 9.978804e-02 1.001
R-HSA-381042 PERK regulates gene expression 8.276484e-02 1.082
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet fun... 2.789137e-01 0.555
R-HSA-9006925 Intracellular signaling by second messengers 1.706080e-01 0.768
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex 2.874001e-01 0.542
R-HSA-5423599 Diseases of Mismatch Repair (MMR) 1.137921e-01 0.944
R-HSA-187706 Signalling to p38 via RIT and RIN 1.757686e-01 0.755
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation 7.103711e-02 1.149
R-HSA-9675151 Disorders of Developmental Biology 9.232658e-02 1.035
R-HSA-170984 ARMS-mediated activation 2.517304e-01 0.599
R-HSA-2179392 EGFR Transactivation by Gastrin 2.696035e-01 0.569
R-HSA-9706019 RHOBTB3 ATPase cycle 2.870507e-01 0.542
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex 1.643479e-01 0.784
R-HSA-8963901 Chylomicron remodeling 3.369373e-01 0.472
R-HSA-4086398 Ca2+ pathway 1.346867e-01 0.871
R-HSA-1980143 Signaling by NOTCH1 1.477156e-01 0.831
R-HSA-4419969 Depolymerization of the Nuclear Lamina 4.265061e-01 0.370
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly 4.265061e-01 0.370
R-HSA-9646399 Aggrephagy 3.139738e-01 0.503
R-HSA-9932298 Degradation of CRY and PER proteins 3.315721e-01 0.479
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle 4.666564e-01 0.331
R-HSA-450321 JNK (c-Jun kinases) phosphorylation and activation mediated by activated human ... 4.666564e-01 0.331
R-HSA-5357786 TNFR1-induced proapoptotic signaling 4.666564e-01 0.331
R-HSA-9660821 ADORA2B mediated anti-inflammatory cytokines production 3.663533e-01 0.436
R-HSA-6807878 COPI-mediated anterograde transport 2.603929e-01 0.584
R-HSA-8856688 Golgi-to-ER retrograde transport 2.884562e-01 0.540
R-HSA-187037 Signaling by NTRK1 (TRKA) 4.539467e-01 0.343
R-HSA-1852241 Organelle biogenesis and maintenance 2.038426e-01 0.691
R-HSA-9711123 Cellular response to chemical stress 3.948492e-01 0.404
R-HSA-199992 trans-Golgi Network Vesicle Budding 3.050303e-01 0.516
R-HSA-6794361 Neurexins and neuroligins 4.253906e-01 0.371
R-HSA-2644603 Signaling by NOTCH1 in Cancer 2.275284e-01 0.643
R-HSA-2980766 Nuclear Envelope Breakdown 4.657672e-01 0.332
R-HSA-2500257 Resolution of Sister Chromatid Cohesion 4.113174e-01 0.386
R-HSA-9663891 Selective autophagy 4.156640e-01 0.381
R-HSA-9634597 GPER1 signaling 3.919768e-01 0.407
R-HSA-5683057 MAPK family signaling cascades 3.946808e-01 0.404
R-HSA-9818749 Regulation of NFE2L2 gene expression 1.954512e-01 0.709
R-HSA-9830674 Formation of the ureteric bud 1.559031e-01 0.807
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic 1.964303e-01 0.707
R-HSA-399997 Acetylcholine regulates insulin secretion 3.980783e-01 0.400
R-HSA-2022857 Keratan sulfate degradation 4.535946e-01 0.343
R-HSA-1632852 Macroautophagy 1.860632e-01 0.730
R-HSA-918233 TRAF3-dependent IRF activation pathway 3.980783e-01 0.400
R-HSA-8878171 Transcriptional regulation by RUNX1 1.452857e-01 0.838
R-HSA-199991 Membrane Trafficking 1.948017e-01 0.710
R-HSA-3214847 HATs acetylate histones 1.301271e-01 0.886
R-HSA-111933 Calmodulin induced events 8.731981e-02 1.059
R-HSA-9839373 Signaling by TGFBR3 3.749432e-01 0.426
R-HSA-4839726 Chromatin organization 6.509947e-02 1.186
R-HSA-9854907 Regulation of MITF-M dependent genes involved in metabolism 1.137921e-01 0.944
R-HSA-1433559 Regulation of KIT signaling 7.103711e-02 1.149
R-HSA-9706369 Negative regulation of FLT3 8.503891e-02 1.070
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic... 8.503891e-02 1.070
R-HSA-187015 Activation of TRKA receptors 2.146650e-01 0.668
R-HSA-426117 Cation-coupled Chloride cotransporters 2.146650e-01 0.668
R-HSA-8948747 Regulation of PTEN localization 2.146650e-01 0.668
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors 2.517304e-01 0.599
R-HSA-198693 AKT phosphorylates targets in the nucleus 2.517304e-01 0.599
R-HSA-111997 CaM pathway 8.731981e-02 1.059
R-HSA-428540 Activation of RAC1 3.040822e-01 0.517
R-HSA-879415 Advanced glycosylation endproduct receptor signaling 3.207078e-01 0.494
R-HSA-1475029 Reversible hydration of carbon dioxide 3.369373e-01 0.472
R-HSA-9945266 Differentiation of T cells 3.833416e-01 0.416
R-HSA-9942503 Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells) 3.833416e-01 0.416
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion 3.403244e-01 0.468
R-HSA-3371571 HSF1-dependent transactivation 4.171243e-01 0.380
R-HSA-397014 Muscle contraction 3.299833e-01 0.482
R-HSA-9645723 Diseases of programmed cell death 4.156640e-01 0.381
R-HSA-69620 Cell Cycle Checkpoints 2.332593e-01 0.632
R-HSA-5578775 Ion homeostasis 7.117397e-02 1.148
R-HSA-5628897 TP53 Regulates Metabolic Genes 3.734728e-01 0.428
R-HSA-9612973 Autophagy 2.466880e-01 0.608
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic 2.806383e-01 0.552
R-HSA-9768777 Regulation of NPAS4 gene transcription 2.517304e-01 0.599
R-HSA-430116 GP1b-IX-V activation signalling 2.517304e-01 0.599
R-HSA-111996 Ca-dependent events 1.219506e-01 0.914
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPK 4.402137e-01 0.356
R-HSA-877300 Interferon gamma signaling 4.251721e-01 0.371
R-HSA-1489509 DAG and IP3 signaling 1.381090e-01 0.860
R-HSA-3134973 LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production 1.556057e-01 0.808
R-HSA-3270619 IRF3-mediated induction of type I IFN 7.793795e-02 1.108
R-HSA-9645460 Alpha-protein kinase 1 signaling pathway 2.870507e-01 0.542
R-HSA-5099900 WNT5A-dependent internalization of FZD4 3.833416e-01 0.416
R-HSA-139853 Elevation of cytosolic Ca2+ levels 4.124636e-01 0.385
R-HSA-5610783 Degradation of GLI2 by the proteasome 3.315721e-01 0.479
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome 3.315721e-01 0.479
R-HSA-9824594 Regulation of MITF-M-dependent genes involved in apoptosis 4.666564e-01 0.331
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins 3.663533e-01 0.436
R-HSA-9648025 EML4 and NUDC in mitotic spindle formation 3.354555e-01 0.474
R-HSA-5621481 C-type lectin receptors (CLRs) 9.293131e-02 1.032
R-HSA-112043 PLC beta mediated events 2.338596e-01 0.631
R-HSA-983231 Factors involved in megakaryocyte development and platelet production 1.924698e-01 0.716
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity 2.340619e-01 0.631
R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest 9.232658e-02 1.035
R-HSA-1295596 Spry regulation of FGF signaling 3.682451e-01 0.434
R-HSA-199977 ER to Golgi Anterograde Transport 3.683931e-01 0.434
R-HSA-1251985 Nuclear signaling by ERBB4 3.139738e-01 0.503
R-HSA-70171 Glycolysis 2.815733e-01 0.550
R-HSA-452723 Transcriptional regulation of pluripotent stem cells 2.962761e-01 0.528
R-HSA-5578768 Physiological factors 3.527800e-01 0.452
R-HSA-163359 Glucagon signaling in metabolic regulation 2.518228e-01 0.599
R-HSA-9909505 Modulation of host responses by IFN-stimulated genes 4.124636e-01 0.385
R-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation 4.666564e-01 0.331
R-HSA-8955332 Carboxyterminal post-translational modifications of tubulin 3.834853e-01 0.416
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers 1.029963e-01 0.987
R-HSA-9607240 FLT3 Signaling 1.115935e-01 0.952
R-HSA-196791 Vitamin D (calciferol) metabolism 4.265061e-01 0.370
R-HSA-8939211 ESR-mediated signaling 9.730427e-02 1.012
R-HSA-5607764 CLEC7A (Dectin-1) signaling 2.603929e-01 0.584
R-HSA-1236394 Signaling by ERBB4 3.181328e-01 0.497
R-HSA-1640170 Cell Cycle 3.121368e-01 0.506
R-HSA-5576891 Cardiac conduction 2.838393e-01 0.547
R-HSA-5687128 MAPK6/MAPK4 signaling 1.894496e-01 0.723
R-HSA-9833110 RSV-host interactions 1.519917e-01 0.818
R-HSA-112040 G-protein mediated events 2.724154e-01 0.565
R-HSA-450520 HuR (ELAVL1) binds and stabilizes mRNA 2.517304e-01 0.599
R-HSA-9764790 Positive Regulation of CDH1 Gene Transcription 2.696035e-01 0.569
R-HSA-380994 ATF4 activates genes in response to endoplasmic reticulum stress 1.988291e-01 0.702
R-HSA-6814848 Glycerophospholipid catabolism 3.527800e-01 0.452
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane 4.124636e-01 0.385
R-HSA-8854214 TBC/RABGAPs 3.490409e-01 0.457
R-HSA-9007101 Rab regulation of trafficking 3.897328e-01 0.409
R-HSA-69278 Cell Cycle, Mitotic 4.489956e-01 0.348
R-HSA-156711 Polo-like kinase mediated events 1.074109e-01 0.969
R-HSA-5660526 Response to metal ions 3.980783e-01 0.400
R-HSA-9856530 High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR... 3.574269e-01 0.447
R-HSA-418346 Platelet homeostasis 3.191980e-01 0.496
R-HSA-9662001 Defective factor VIII causes hemophilia A 1.954512e-01 0.709
R-HSA-110357 Displacement of DNA glycosylase by APEX1 2.146650e-01 0.668
R-HSA-9634285 Constitutive Signaling by Overexpressed ERBB2 3.207078e-01 0.494
R-HSA-5685939 HDR through MMEJ (alt-NHEJ) 3.369373e-01 0.472
R-HSA-1483255 PI Metabolism 5.849329e-02 1.233
R-HSA-9830369 Kidney development 1.101577e-01 0.958
R-HSA-159418 Recycling of bile acids and salts 2.429355e-01 0.615
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer 2.025667e-01 0.693
R-HSA-163560 Triglyceride catabolism 2.785120e-01 0.555
R-HSA-936837 Ion transport by P-type ATPases 2.530303e-01 0.597
R-HSA-9819196 Zygotic genome activation (ZGA) 4.666564e-01 0.331
R-HSA-9860931 Response of endothelial cells to shear stress 3.030059e-01 0.519
R-HSA-8986944 Transcriptional Regulation by MECP2 2.241815e-01 0.649
R-HSA-159763 Transport of gamma-carboxylated protein precursors from the endoplasmic reticulu... 1.954512e-01 0.709
R-HSA-159782 Removal of aminoterminal propeptides from gamma-carboxylated proteins 2.146650e-01 0.668
R-HSA-159740 Gamma-carboxylation of protein precursors 3.040822e-01 0.517
R-HSA-159854 Gamma-carboxylation, transport, and amino-terminal cleavage of proteins 3.207078e-01 0.494
R-HSA-198323 AKT phosphorylates targets in the cytosol 3.207078e-01 0.494
R-HSA-416700 Other semaphorin interactions 3.682451e-01 0.434
R-HSA-9651496 Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) 3.980783e-01 0.400
R-HSA-9634815 Transcriptional Regulation by NPAS4 1.783136e-01 0.749
R-HSA-9006936 Signaling by TGFB family members 4.298723e-01 0.367
R-HSA-1834941 STING mediated induction of host immune responses 1.151833e-01 0.939
R-HSA-9830364 Formation of the nephric duct 1.728712e-01 0.762
R-HSA-3700989 Transcriptional Regulation by TP53 8.456878e-02 1.073
R-HSA-381033 ATF6 (ATF6-alpha) activates chaperones 6.435037e-02 1.191
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins 2.334211e-01 0.632
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins 2.517304e-01 0.599
R-HSA-9825892 Regulation of MITF-M-dependent genes involved in cell cycle and proliferation 1.392853e-01 0.856
R-HSA-70326 Glucose metabolism 3.897328e-01 0.409
R-HSA-9730414 MITF-M-regulated melanocyte development 3.338393e-01 0.476
R-HSA-9855142 Cellular responses to mechanical stimuli 3.626132e-01 0.441
R-HSA-4420097 VEGFA-VEGFR2 Pathway 2.040131e-01 0.690
R-HSA-9856651 MITF-M-dependent gene expression 3.826240e-01 0.417
R-HSA-9671793 Diseases of hemostasis 4.402137e-01 0.356
R-HSA-75893 TNF signaling 7.117397e-02 1.148
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol 1.901198e-01 0.721
R-HSA-210745 Regulation of gene expression in beta cells 2.075850e-01 0.683
R-HSA-418885 DCC mediated attractive signaling 3.682451e-01 0.434
R-HSA-1181150 Signaling by NODAL 4.535946e-01 0.343
R-HSA-194138 Signaling by VEGF 2.519727e-01 0.599
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA 2.919517e-01 0.535
R-HSA-909733 Interferon alpha/beta signaling 3.788977e-01 0.421
R-HSA-9820952 Respiratory Syncytial Virus Infection Pathway 3.164169e-01 0.500
R-HSA-186712 Regulation of beta-cell development 8.098268e-02 1.092
R-HSA-1433557 Signaling by SCF-KIT 3.490409e-01 0.457
R-HSA-8948751 Regulation of PTEN stability and activity 4.335955e-01 0.363
R-HSA-9008059 Interleukin-37 signaling 2.163803e-01 0.665
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes 4.657672e-01 0.332
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance 2.343969e-01 0.630
R-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation 3.980783e-01 0.400
R-HSA-983712 Ion channel transport 3.883909e-01 0.411
R-HSA-73893 DNA Damage Bypass 4.004153e-01 0.397
R-HSA-73887 Death Receptor Signaling 4.015764e-01 0.396
R-HSA-5357905 Regulation of TNFR1 signaling 1.436497e-01 0.843
R-HSA-9758941 Gastrulation 3.778808e-01 0.423
R-HSA-109581 Apoptosis 2.707727e-01 0.567
R-HSA-5357801 Programmed Cell Death 3.032080e-01 0.518
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex 4.736407e-01 0.325
R-HSA-9617828 FOXO-mediated transcription of cell cycle genes 4.794067e-01 0.319
R-HSA-450302 activated TAK1 mediates p38 MAPK activation 4.794067e-01 0.319
R-HSA-9671555 Signaling by PDGFR in disease 4.794067e-01 0.319
R-HSA-191859 snRNP Assembly 4.814438e-01 0.317
R-HSA-194441 Metabolism of non-coding RNA 4.814438e-01 0.317
R-HSA-8979227 Triglyceride metabolism 4.814438e-01 0.317
R-HSA-8878159 Transcriptional regulation by RUNX3 4.843294e-01 0.315
R-HSA-170834 Signaling by TGF-beta Receptor Complex 4.843294e-01 0.315
R-HSA-1227986 Signaling by ERBB2 4.891755e-01 0.311
R-HSA-422356 Regulation of insulin secretion 4.903864e-01 0.309
R-HSA-212676 Dopamine Neurotransmitter Release Cycle 4.918530e-01 0.308
R-HSA-2173788 Downregulation of TGF-beta receptor signaling 4.918530e-01 0.308
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus 4.918530e-01 0.308
R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in ... 4.918530e-01 0.308
R-HSA-192105 Synthesis of bile acids and bile salts 4.964084e-01 0.304
R-HSA-445717 Aquaporin-mediated transport 4.968345e-01 0.304
R-HSA-211976 Endogenous sterols 4.968345e-01 0.304
R-HSA-9793380 Formation of paraxial mesoderm 4.968345e-01 0.304
R-HSA-422475 Axon guidance 5.018141e-01 0.299
R-HSA-8943723 Regulation of PTEN mRNA translation 5.040024e-01 0.298
R-HSA-9634638 Estrogen-dependent nuclear events downstream of ESR-membrane signaling 5.040024e-01 0.298
R-HSA-200425 Carnitine shuttle 5.040024e-01 0.298
R-HSA-3000170 Syndecan interactions 5.040024e-01 0.298
R-HSA-9616222 Transcriptional regulation of granulopoiesis 5.044201e-01 0.297
R-HSA-913531 Interferon Signaling 5.128678e-01 0.290
R-HSA-5358351 Signaling by Hedgehog 5.158057e-01 0.288
R-HSA-429947 Deadenylation of mRNA 5.158621e-01 0.287
R-HSA-9865881 Complex III assembly 5.158621e-01 0.287
R-HSA-75067 Processing of Capped Intronless Pre-mRNA 5.158621e-01 0.287
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle 5.158621e-01 0.287
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes 5.158621e-01 0.287
R-HSA-9664422 FCGR3A-mediated phagocytosis 5.258056e-01 0.279
R-HSA-9664407 Parasite infection 5.258056e-01 0.279
R-HSA-9664417 Leishmania phagocytosis 5.258056e-01 0.279
R-HSA-9633012 Response of EIF2AK4 (GCN2) to amino acid deficiency 5.259674e-01 0.279
R-HSA-111885 Opioid Signalling 5.259674e-01 0.279
R-HSA-9932451 SWI/SNF chromatin remodelers 5.274390e-01 0.278
R-HSA-9932444 ATP-dependent chromatin remodelers 5.274390e-01 0.278
R-HSA-5218921 VEGFR2 mediated cell proliferation 5.274390e-01 0.278
R-HSA-2160916 Hyaluronan degradation 5.274390e-01 0.278
R-HSA-70221 Glycogen breakdown (glycogenolysis) 5.274390e-01 0.278
R-HSA-3214842 HDMs demethylate histones 5.274390e-01 0.278
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation 5.307682e-01 0.275
R-HSA-9909649 Regulation of PD-L1(CD274) transcription 5.340113e-01 0.272
R-HSA-5653656 Vesicle-mediated transport 5.344798e-01 0.272
R-HSA-8934593 Regulation of RUNX1 Expression and Activity 5.387397e-01 0.269
R-HSA-525793 Myogenesis 5.387397e-01 0.269
R-HSA-210500 Glutamate Neurotransmitter Release Cycle 5.387397e-01 0.269
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol 5.387397e-01 0.269
R-HSA-8953897 Cellular responses to stimuli 5.409536e-01 0.267
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol 5.412181e-01 0.267
R-HSA-9662360 Sensory processing of sound by inner hair cells of the cochlea 5.483473e-01 0.261
R-HSA-9700206 Signaling by ALK in cancer 5.489125e-01 0.260
R-HSA-9725370 Signaling by ALK fusions and activated point mutants 5.489125e-01 0.260
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery 5.497708e-01 0.260
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation 5.497708e-01 0.260
R-HSA-73863 RNA Polymerase I Transcription Termination 5.497708e-01 0.260
R-HSA-9841251 Mitochondrial unfolded protein response (UPRmt) 5.497708e-01 0.260
R-HSA-389357 CD28 dependent PI3K/Akt signaling 5.497708e-01 0.260
R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release 5.497708e-01 0.260
R-HSA-2672351 Stimuli-sensing channels 5.545463e-01 0.256
R-HSA-167287 HIV elongation arrest and recovery 5.605388e-01 0.251
R-HSA-167290 Pausing and recovery of HIV elongation 5.605388e-01 0.251
R-HSA-5205685 PINK1-PRKN Mediated Mitophagy 5.605388e-01 0.251
R-HSA-5654732 Negative regulation of FGFR3 signaling 5.605388e-01 0.251
R-HSA-195253 Degradation of beta-catenin by the destruction complex 5.623717e-01 0.250
R-HSA-9764560 Regulation of CDH1 Gene Transcription 5.623717e-01 0.250
R-HSA-202403 TCR signaling 5.656874e-01 0.247
R-HSA-194068 Bile acid and bile salt metabolism 5.656874e-01 0.247
R-HSA-5632684 Hedgehog 'on' state 5.692663e-01 0.245
R-HSA-9856649 Transcriptional and post-translational regulation of MITF-M expression and activ... 5.692663e-01 0.245
R-HSA-166520 Signaling by NTRKs 5.695131e-01 0.244
R-HSA-9759475 Regulation of CDH11 Expression and Function 5.710500e-01 0.243
R-HSA-5654733 Negative regulation of FGFR4 signaling 5.710500e-01 0.243
R-HSA-392154 Nitric oxide stimulates guanylate cyclase 5.710500e-01 0.243
R-HSA-420092 Glucagon-type ligand receptors 5.710500e-01 0.243
R-HSA-9924644 Developmental Lineages of the Mammary Gland 5.760820e-01 0.240
R-HSA-198725 Nuclear Events (kinase and transcription factor activation) 5.760820e-01 0.240
R-HSA-5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC... 5.813103e-01 0.236
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs) 5.813103e-01 0.236
R-HSA-8863795 Downregulation of ERBB2 signaling 5.813103e-01 0.236
R-HSA-114452 Activation of BH3-only proteins 5.813103e-01 0.236
R-HSA-1227990 Signaling by ERBB2 in Cancer 5.813103e-01 0.236
R-HSA-68877 Mitotic Prometaphase 5.817955e-01 0.235
R-HSA-1912422 Pre-NOTCH Expression and Processing 5.820765e-01 0.235
R-HSA-446652 Interleukin-1 family signaling 5.882070e-01 0.230
R-HSA-674695 RNA Polymerase II Pre-transcription Events 5.894765e-01 0.230
R-HSA-9013694 Signaling by NOTCH4 5.894765e-01 0.230
R-HSA-8957322 Metabolism of steroids 5.913046e-01 0.228
R-HSA-1855196 IP3 and IP4 transport between cytosol and nucleus 5.913258e-01 0.228
R-HSA-1855229 IP6 and IP7 transport between cytosol and nucleus 5.913258e-01 0.228
R-HSA-9820960 Respiratory syncytial virus (RSV) attachment and entry 5.913258e-01 0.228
R-HSA-162588 Budding and maturation of HIV virion 5.913258e-01 0.228
R-HSA-399719 Trafficking of AMPA receptors 5.913258e-01 0.228
R-HSA-9913351 Formation of the dystrophin-glycoprotein complex (DGC) 5.913258e-01 0.228
R-HSA-9833109 Evasion by RSV of host interferon responses 5.913258e-01 0.228
R-HSA-182971 EGFR downregulation 5.913258e-01 0.228
R-HSA-9658195 Leishmania infection 5.915896e-01 0.228
R-HSA-9824443 Parasitic Infection Pathways 5.915896e-01 0.228
R-HSA-3000171 Non-integrin membrane-ECM interactions 5.960551e-01 0.225
R-HSA-1169408 ISG15 antiviral mechanism 5.960551e-01 0.225
R-HSA-9675108 Nervous system development 5.972350e-01 0.224
R-HSA-157118 Signaling by NOTCH 5.999003e-01 0.222
R-HSA-9675126 Diseases of mitotic cell cycle 6.011024e-01 0.221
R-HSA-2871809 FCERI mediated Ca+2 mobilization 6.033108e-01 0.219
R-HSA-1855170 IPs transport between nucleus and cytosol 6.106456e-01 0.214
R-HSA-159227 Transport of the SLBP independent Mature mRNA 6.106456e-01 0.214
R-HSA-2022854 Keratan sulfate biosynthesis 6.106456e-01 0.214
R-HSA-6804758 Regulation of TP53 Activity through Acetylation 6.106456e-01 0.214
R-HSA-1839124 FGFR1 mutant receptor activation 6.106456e-01 0.214
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity 6.106456e-01 0.214
R-HSA-5654726 Negative regulation of FGFR1 signaling 6.106456e-01 0.214
R-HSA-9930044 Nuclear RNA decay 6.106456e-01 0.214
R-HSA-9764260 Regulation of Expression and Function of Type II Classical Cadherins 6.106456e-01 0.214
R-HSA-176187 Activation of ATR in response to replication stress 6.106456e-01 0.214
R-HSA-5675482 Regulation of necroptotic cell death 6.106456e-01 0.214
R-HSA-9711097 Cellular response to starvation 6.153410e-01 0.211
R-HSA-948021 Transport to the Golgi and subsequent modification 6.183062e-01 0.209
R-HSA-2219528 PI3K/AKT Signaling in Cancer 6.187632e-01 0.208
R-HSA-390522 Striated Muscle Contraction 6.199611e-01 0.208
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA 6.199611e-01 0.208
R-HSA-5696394 DNA Damage Recognition in GG-NER 6.199611e-01 0.208
R-HSA-9818027 NFE2L2 regulating anti-oxidant/detoxification enzymes 6.199611e-01 0.208
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis 6.199611e-01 0.208
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein 6.199611e-01 0.208
R-HSA-9659379 Sensory processing of sound 6.215779e-01 0.207
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling 6.222456e-01 0.206
R-HSA-5633007 Regulation of TP53 Activity 6.241356e-01 0.205
R-HSA-5696400 Dual Incision in GG-NER 6.290543e-01 0.201
R-HSA-5205647 Mitophagy 6.290543e-01 0.201
R-HSA-1980145 Signaling by NOTCH2 6.290543e-01 0.201
R-HSA-180746 Nuclear import of Rev protein 6.290543e-01 0.201
R-HSA-168638 NOD1/2 Signaling Pathway 6.290543e-01 0.201
R-HSA-2142845 Hyaluronan metabolism 6.290543e-01 0.201
R-HSA-5654727 Negative regulation of FGFR2 signaling 6.290543e-01 0.201
R-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected ... 6.290543e-01 0.201
R-HSA-9768919 NPAS4 regulates expression of target genes 6.290543e-01 0.201
R-HSA-3371556 Cellular response to heat stress 6.338032e-01 0.198
R-HSA-5693607 Processing of DNA double-strand break ends 6.338659e-01 0.198
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly 6.379305e-01 0.195
R-HSA-187687 Signalling to ERKs 6.379305e-01 0.195
R-HSA-9860927 Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZ... 6.379305e-01 0.195
R-HSA-1483257 Phospholipid metabolism 6.387715e-01 0.195
R-HSA-2467813 Separation of Sister Chromatids 6.413399e-01 0.193
R-HSA-2132295 MHC class II antigen presentation 6.435987e-01 0.191
R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade) 6.465948e-01 0.189
R-HSA-432720 Lysosome Vesicle Biogenesis 6.465948e-01 0.189
R-HSA-6804757 Regulation of TP53 Degradation 6.465948e-01 0.189
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs 6.517104e-01 0.186
R-HSA-4641258 Degradation of DVL 6.550523e-01 0.184
R-HSA-180910 Vpr-mediated nuclear import of PICs 6.550523e-01 0.184
R-HSA-933541 TRAF6 mediated IRF7 activation 6.550523e-01 0.184
R-HSA-427359 SIRT1 negatively regulates rRNA expression 6.550523e-01 0.184
R-HSA-549127 SLC-mediated transport of organic cations 6.550523e-01 0.184
R-HSA-5689896 Ovarian tumor domain proteases 6.550523e-01 0.184
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription 6.550523e-01 0.184
R-HSA-1500620 Meiosis 6.575031e-01 0.182
R-HSA-6794362 Protein-protein interactions at synapses 6.575031e-01 0.182
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission 6.602823e-01 0.180
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs 6.632185e-01 0.178
R-HSA-165054 Rev-mediated nuclear export of HIV RNA 6.633078e-01 0.178
R-HSA-5213460 RIPK1-mediated regulated necrosis 6.633078e-01 0.178
R-HSA-9958790 SLC-mediated transport of inorganic anions 6.633078e-01 0.178
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation 6.688571e-01 0.175
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases 6.705617e-01 0.174
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat 6.713664e-01 0.173
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript 6.713664e-01 0.173
R-HSA-168276 NS1 Mediated Effects on Host Pathways 6.713664e-01 0.173
R-HSA-6806003 Regulation of TP53 Expression and Degradation 6.713664e-01 0.173
R-HSA-418555 G alpha (s) signalling events 6.741763e-01 0.171
R-HSA-438064 Post NMDA receptor activation events 6.744192e-01 0.171
R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts 6.792325e-01 0.168
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript 6.792325e-01 0.168
R-HSA-9670095 Inhibition of DNA recombination at telomere 6.792325e-01 0.168
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat 6.792325e-01 0.168
R-HSA-5696395 Formation of Incision Complex in GG-NER 6.792325e-01 0.168
R-HSA-167169 HIV Transcription Elongation 6.792325e-01 0.168
R-HSA-177243 Interactions of Rev with host cellular proteins 6.792325e-01 0.168
R-HSA-176033 Interactions of Vpr with host cellular proteins 6.792325e-01 0.168
R-HSA-3371568 Attenuation phase 6.792325e-01 0.168
R-HSA-202433 Generation of second messenger molecules 6.792325e-01 0.168
R-HSA-8982491 Glycogen metabolism 6.792325e-01 0.168
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis 6.859414e-01 0.164
R-HSA-9820841 M-decay: degradation of maternal mRNAs by maternally stored factors 6.869108e-01 0.163
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus 6.869108e-01 0.163
R-HSA-8853884 Transcriptional Regulation by VENTX 6.869108e-01 0.163
R-HSA-5625886 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated gene... 6.869108e-01 0.163
R-HSA-9694548 Maturation of spike protein 6.869108e-01 0.163
R-HSA-5218920 VEGFR2 mediated vascular permeability 6.869108e-01 0.163
R-HSA-73933 Resolution of Abasic Sites (AP sites) 6.869108e-01 0.163
R-HSA-202424 Downstream TCR signaling 6.906514e-01 0.161
R-HSA-373080 Class B/2 (Secretin family receptors) 6.906514e-01 0.161
R-HSA-8951664 Neddylation 6.923362e-01 0.160
R-HSA-5655302 Signaling by FGFR1 in disease 6.944058e-01 0.158
R-HSA-6811438 Intra-Golgi traffic 6.944058e-01 0.158
R-HSA-2262752 Cellular responses to stress 6.966038e-01 0.157
R-HSA-76005 Response to elevated platelet cytosolic Ca2+ 6.984617e-01 0.156
R-HSA-73762 RNA Polymerase I Transcription Initiation 7.017218e-01 0.154
R-HSA-110329 Cleavage of the damaged pyrimidine 7.017218e-01 0.154
R-HSA-73928 Depyrimidination 7.017218e-01 0.154
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signaling 7.017218e-01 0.154
R-HSA-2173789 TGF-beta receptor signaling activates SMADs 7.088631e-01 0.149
R-HSA-5654743 Signaling by FGFR4 7.088631e-01 0.149
R-HSA-163685 Integration of energy metabolism 7.152647e-01 0.146
R-HSA-190828 Gap junction trafficking 7.158338e-01 0.145
R-HSA-3214858 RMTs methylate histone arginines 7.158338e-01 0.145
R-HSA-69231 Cyclin D associated events in G1 7.158338e-01 0.145
R-HSA-69236 G1 Phase 7.158338e-01 0.145
R-HSA-3928662 EPHB-mediated forward signaling 7.158338e-01 0.145
R-HSA-373752 Netrin-1 signaling 7.158338e-01 0.145
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors 7.158338e-01 0.145
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery 7.226381e-01 0.141
R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism 7.226381e-01 0.141
R-HSA-9824585 Regulation of MITF-M-dependent genes involved in pigmentation 7.226381e-01 0.141
R-HSA-5654741 Signaling by FGFR3 7.226381e-01 0.141
R-HSA-76009 Platelet Aggregation (Plug Formation) 7.226381e-01 0.141
R-HSA-381119 Unfolded Protein Response (UPR) 7.273864e-01 0.138
R-HSA-72165 mRNA Splicing - Minor Pathway 7.292798e-01 0.137
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex 7.292798e-01 0.137
R-HSA-168274 Export of Viral Ribonucleoproteins from Nucleus 7.292798e-01 0.137
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade 7.292798e-01 0.137
R-HSA-1266738 Developmental Biology 7.302363e-01 0.137
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic 7.306948e-01 0.136
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network 7.357629e-01 0.133
R-HSA-445989 TAK1-dependent IKK and NF-kappa-B activation 7.357629e-01 0.133
R-HSA-1483191 Synthesis of PC 7.357629e-01 0.133
R-HSA-975871 MyD88 cascade initiated on plasma membrane 7.399932e-01 0.131
R-HSA-168142 Toll Like Receptor 10 (TLR10) Cascade 7.399932e-01 0.131
R-HSA-168176 Toll Like Receptor 5 (TLR5) Cascade 7.399932e-01 0.131
R-HSA-5620924 Intraflagellar transport 7.420912e-01 0.130
R-HSA-8963899 Plasma lipoprotein remodeling 7.420912e-01 0.130
R-HSA-9725371 Nuclear events stimulated by ALK signaling in cancer 7.420912e-01 0.130
R-HSA-389356 Co-stimulation by CD28 7.420912e-01 0.130
R-HSA-1280218 Adaptive Immune System 7.425307e-01 0.129
R-HSA-162599 Late Phase of HIV Life Cycle 7.429166e-01 0.129
R-HSA-9705671 SARS-CoV-2 activates/modulates innate and adaptive immune responses 7.429166e-01 0.129
R-HSA-5617833 Cilium Assembly 7.436001e-01 0.129
R-HSA-109582 Hemostasis 7.475567e-01 0.126
R-HSA-1638074 Keratan sulfate/keratin metabolism 7.482682e-01 0.126
R-HSA-157858 Gap junction trafficking and regulation 7.482682e-01 0.126
R-HSA-380108 Chemokine receptors bind chemokines 7.482682e-01 0.126
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling 7.502092e-01 0.125
R-HSA-9020702 Interleukin-1 signaling 7.534263e-01 0.123
R-HSA-5658442 Regulation of RAS by GAPs 7.542977e-01 0.122
R-HSA-5673001 RAF/MAP kinase cascade 7.572998e-01 0.121
R-HSA-442755 Activation of NMDA receptors and postsynaptic events 7.577694e-01 0.120
R-HSA-912446 Meiotic recombination 7.601832e-01 0.119
R-HSA-1169091 Activation of NF-kappaB in B cells 7.601832e-01 0.119
R-HSA-9864848 Complex IV assembly 7.601832e-01 0.119
R-HSA-2514856 The phototransduction cascade 7.601832e-01 0.119
R-HSA-983169 Class I MHC mediated antigen processing & presentation 7.607090e-01 0.119
R-HSA-9609690 HCMV Early Events 7.630353e-01 0.117
R-HSA-73772 RNA Polymerase I Promoter Escape 7.659280e-01 0.116
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins 7.659280e-01 0.116
R-HSA-5250924 B-WICH complex positively regulates rRNA expression 7.715355e-01 0.113
R-HSA-445355 Smooth Muscle Contraction 7.715355e-01 0.113
R-HSA-9639288 Amino acids regulate mTORC1 7.715355e-01 0.113
R-HSA-1221632 Meiotic synapsis 7.715355e-01 0.113
R-HSA-5684996 MAPK1/MAPK3 signaling 7.755779e-01 0.110
R-HSA-72649 Translation initiation complex formation 7.770090e-01 0.110
R-HSA-9754678 SARS-CoV-2 modulates host translation machinery 7.770090e-01 0.110
R-HSA-73929 Base-Excision Repair, AP Site Formation 7.770090e-01 0.110
R-HSA-418597 G alpha (z) signalling events 7.823518e-01 0.107
R-HSA-3214815 HDACs deacetylate histones 7.823518e-01 0.107
R-HSA-211000 Gene Silencing by RNA 7.824626e-01 0.107
R-HSA-9734779 Developmental Cell Lineages of the Integumentary System 7.863569e-01 0.104
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation 7.863569e-01 0.104
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER 7.875668e-01 0.104
R-HSA-72702 Ribosomal scanning and start codon recognition 7.875668e-01 0.104
R-HSA-193648 NRAGE signals death through JNK 7.875668e-01 0.104
R-HSA-9662361 Sensory processing of sound by outer hair cells of the cochlea 7.875668e-01 0.104
R-HSA-5654736 Signaling by FGFR1 7.875668e-01 0.104
R-HSA-177929 Signaling by EGFR 7.875668e-01 0.104
R-HSA-109606 Intrinsic Pathway for Apoptosis 7.875668e-01 0.104
R-HSA-975155 MyD88 dependent cascade initiated on endosome 7.901898e-01 0.102
R-HSA-162587 HIV Life Cycle 7.949540e-01 0.100
R-HSA-6782135 Dual incision in TC-NER 7.976260e-01 0.098
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and sub... 7.976260e-01 0.098
R-HSA-983705 Signaling by the B Cell Receptor (BCR) 7.980891e-01 0.098
R-HSA-1483249 Inositol phosphate metabolism 8.013276e-01 0.096
R-HSA-429914 Deadenylation-dependent mRNA decay 8.024759e-01 0.096
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures 8.024759e-01 0.096
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade 8.049221e-01 0.094
R-HSA-9845323 Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) 8.072099e-01 0.093
R-HSA-8873719 RAB geranylgeranylation 8.072099e-01 0.093
R-HSA-5362517 Signaling by Retinoic Acid 8.072099e-01 0.093
R-HSA-983189 Kinesins 8.072099e-01 0.093
R-HSA-9764725 Negative Regulation of CDH1 Gene Transcription 8.072099e-01 0.093
R-HSA-73856 RNA Polymerase II Transcription Termination 8.118308e-01 0.091
R-HSA-168325 Viral Messenger RNA Synthesis 8.118308e-01 0.091
R-HSA-450294 MAP kinase activation 8.118308e-01 0.091
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade 8.153616e-01 0.089
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint 8.163412e-01 0.088
R-HSA-6784531 tRNA processing in the nucleus 8.163412e-01 0.088
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence 8.163412e-01 0.088
R-HSA-186797 Signaling by PDGF 8.163412e-01 0.088
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases 8.207437e-01 0.086
R-HSA-8848021 Signaling by PTK6 8.207437e-01 0.086
R-HSA-373755 Semaphorin interactions 8.207437e-01 0.086
R-HSA-68882 Mitotic Anaphase 8.221142e-01 0.085
R-HSA-2555396 Mitotic Metaphase and Anaphase 8.245968e-01 0.084
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signali... 8.250409e-01 0.084
R-HSA-1234174 Cellular response to hypoxia 8.292354e-01 0.081
R-HSA-166058 MyD88:MAL(TIRAP) cascade initiated on plasma membrane 8.316556e-01 0.080
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade 8.316556e-01 0.080
R-HSA-68875 Mitotic Prophase 8.347549e-01 0.078
R-HSA-112316 Neuronal System 8.363988e-01 0.078
R-HSA-112315 Transmission across Chemical Synapses 8.364619e-01 0.078
R-HSA-76002 Platelet activation, signaling and aggregation 8.386126e-01 0.076
R-HSA-9909648 Regulation of PD-L1(CD274) expression 8.404843e-01 0.075
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade 8.407996e-01 0.075
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade 8.407996e-01 0.075
R-HSA-167172 Transcription of the HIV genome 8.412266e-01 0.075
R-HSA-5218859 Regulated Necrosis 8.412266e-01 0.075
R-HSA-9764274 Regulation of Expression and Function of Type I Classical Cadherins 8.430168e-01 0.074
R-HSA-9764265 Regulation of CDH1 Expression and Function 8.430168e-01 0.074
R-HSA-9816359 Maternal to zygotic transition (MZT) 8.437463e-01 0.074
R-HSA-162909 Host Interactions of HIV factors 8.466436e-01 0.072
R-HSA-204005 COPII-mediated vesicle transport 8.487503e-01 0.071
R-HSA-448424 Interleukin-17 signaling 8.487503e-01 0.071
R-HSA-9705683 SARS-CoV-2-host interactions 8.500596e-01 0.071
R-HSA-5250913 Positive epigenetic regulation of rRNA expression 8.523778e-01 0.069
R-HSA-427413 NoRC negatively regulates rRNA expression 8.523778e-01 0.069
R-HSA-975634 Retinoid metabolism and transport 8.523778e-01 0.069
R-HSA-9664323 FCGR3A-mediated IL10 synthesis 8.550450e-01 0.068
R-HSA-68886 M Phase 8.555595e-01 0.068
R-HSA-5578749 Transcriptional regulation by small RNAs 8.559184e-01 0.068
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry 8.559184e-01 0.068
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements 8.559184e-01 0.068
R-HSA-114608 Platelet degranulation 8.577510e-01 0.067
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript 8.593744e-01 0.066
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE 8.593744e-01 0.066
R-HSA-2559583 Cellular Senescence 8.597888e-01 0.066
R-HSA-1226099 Signaling by FGFR in disease 8.627476e-01 0.064
R-HSA-1222556 ROS and RNS production in phagocytes 8.627476e-01 0.064
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) 8.660402e-01 0.062
R-HSA-8852135 Protein ubiquitination 8.660402e-01 0.062
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes 8.660402e-01 0.062
R-HSA-1474165 Reproduction 8.681198e-01 0.061
R-HSA-73854 RNA Polymerase I Promoter Clearance 8.692539e-01 0.061
R-HSA-9694635 Translation of Structural Proteins 8.723908e-01 0.059
R-HSA-375276 Peptide ligand-binding receptors 8.728960e-01 0.059
R-HSA-73864 RNA Polymerase I Transcription 8.754525e-01 0.058
R-HSA-416482 G alpha (12/13) signalling events 8.754525e-01 0.058
R-HSA-216083 Integrin cell surface interactions 8.754525e-01 0.058
R-HSA-5250941 Negative epigenetic regulation of rRNA expression 8.813580e-01 0.055
R-HSA-5654738 Signaling by FGFR2 8.813580e-01 0.055
R-HSA-6806667 Metabolism of fat-soluble vitamins 8.842052e-01 0.053
R-HSA-72202 Transport of Mature Transcript to Cytoplasm 8.869842e-01 0.052
R-HSA-1280215 Cytokine Signaling in Immune system 8.876980e-01 0.052
R-HSA-72163 mRNA Splicing - Major Pathway 8.886836e-01 0.051
R-HSA-9609646 HCMV Infection 8.916963e-01 0.050
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) 8.923442e-01 0.049
R-HSA-9759476 Regulation of Homotypic Cell-Cell Adhesion 8.923468e-01 0.049
R-HSA-418594 G alpha (i) signalling events 8.930212e-01 0.049
R-HSA-389948 Co-inhibition by PD-1 8.993512e-01 0.046
R-HSA-163841 Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation 8.999125e-01 0.046
R-HSA-388841 Regulation of T cell activation by CD28 family 9.011384e-01 0.045
R-HSA-390466 Chaperonin-mediated protein folding 9.023154e-01 0.045
R-HSA-2871837 FCERI mediated NF-kB activation 9.030167e-01 0.044
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors) 9.046608e-01 0.044
R-HSA-168249 Innate Immune System 9.069001e-01 0.042
R-HSA-72172 mRNA Splicing 9.075293e-01 0.042
R-HSA-2187338 Visual phototransduction 9.085175e-01 0.042
R-HSA-112310 Neurotransmitter release cycle 9.091844e-01 0.041
R-HSA-73884 Base Excision Repair 9.091844e-01 0.041
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade 9.102854e-01 0.041
R-HSA-69242 S Phase 9.102854e-01 0.041
R-HSA-9755511 KEAP1-NFE2L2 pathway 9.153993e-01 0.038
R-HSA-391251 Protein folding 9.155715e-01 0.038
R-HSA-2682334 EPH-Ephrin signaling 9.155715e-01 0.038
R-HSA-9772573 Late SARS-CoV-2 Infection Events 9.155715e-01 0.038
R-HSA-9837999 Mitochondrial protein degradation 9.195786e-01 0.036
R-HSA-1474290 Collagen formation 9.195786e-01 0.036
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes 9.202389e-01 0.036
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta 9.215104e-01 0.035
R-HSA-9954709 Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide 9.233960e-01 0.035
R-HSA-5389840 Mitochondrial translation elongation 9.252364e-01 0.034
R-HSA-1296071 Potassium Channels 9.252364e-01 0.034
R-HSA-1474244 Extracellular matrix organization 9.268950e-01 0.033
R-HSA-157579 Telomere Maintenance 9.270326e-01 0.033
R-HSA-418990 Adherens junctions interactions 9.273273e-01 0.033
R-HSA-5368286 Mitochondrial translation initiation 9.287859e-01 0.032
R-HSA-190236 Signaling by FGFR 9.287859e-01 0.032
R-HSA-446728 Cell junction organization 9.298344e-01 0.032
R-HSA-193704 p75 NTR receptor-mediated signalling 9.304971e-01 0.031
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA 9.309400e-01 0.031
R-HSA-9009391 Extra-nuclear estrogen signaling 9.337974e-01 0.030
R-HSA-9842860 Regulation of endogenous retroelements 9.353885e-01 0.029
R-HSA-2559580 Oxidative Stress Induced Senescence 9.353885e-01 0.029
R-HSA-3371453 Regulation of HSF1-mediated heat shock response 9.353885e-01 0.029
R-HSA-9937383 Mitochondrial ribosome-associated quality control 9.369414e-01 0.028
R-HSA-162906 HIV Infection 9.379205e-01 0.028
R-HSA-211897 Cytochrome P450 - arranged by substrate type 9.383546e-01 0.028
R-HSA-5619102 SLC transporter disorders 9.383546e-01 0.028
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins 9.399365e-01 0.027
R-HSA-5696398 Nucleotide Excision Repair 9.413804e-01 0.026
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade 9.413804e-01 0.026
R-HSA-71387 Metabolism of carbohydrates and carbohydrate derivatives 9.423379e-01 0.026
R-HSA-6798695 Neutrophil degranulation 9.438655e-01 0.025
R-HSA-9694516 SARS-CoV-2 Infection 9.440547e-01 0.025
R-HSA-156827 L13a-mediated translational silencing of Ceruloplasmin expression 9.455076e-01 0.024
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit 9.455076e-01 0.024
R-HSA-9664433 Leishmania parasite growth and survival 9.464201e-01 0.024
R-HSA-9662851 Anti-inflammatory response favouring Leishmania parasite infection 9.464201e-01 0.024
R-HSA-5419276 Mitochondrial translation termination 9.468179e-01 0.024
R-HSA-937061 TRIF (TICAM1)-mediated TLR4 signaling 9.480967e-01 0.023
R-HSA-166166 MyD88-independent TLR4 cascade 9.480967e-01 0.023
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) 9.505632e-01 0.022
R-HSA-927802 Nonsense-Mediated Decay (NMD) 9.505632e-01 0.022
R-HSA-611105 Respiratory electron transport 9.515558e-01 0.022
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-l... 9.540453e-01 0.020
R-HSA-72613 Eukaryotic Translation Initiation 9.572828e-01 0.019
R-HSA-72737 Cap-dependent Translation Initiation 9.572828e-01 0.019
R-HSA-421270 Cell-cell junction organization 9.595930e-01 0.018
R-HSA-9759194 Nuclear events mediated by NFE2L2 9.621809e-01 0.017
R-HSA-73886 Chromosome Maintenance 9.621809e-01 0.017
R-HSA-1500931 Cell-Cell communication 9.622590e-01 0.017
R-HSA-168898 Toll-like Receptor Cascades 9.628024e-01 0.016
R-HSA-1630316 Glycosaminoglycan metabolism 9.642934e-01 0.016
R-HSA-6809371 Formation of the cornified envelope 9.648465e-01 0.016
R-HSA-977606 Regulation of Complement cascade 9.656927e-01 0.015
R-HSA-416476 G alpha (q) signalling events 9.681432e-01 0.014
R-HSA-1474228 Degradation of the extracellular matrix 9.724504e-01 0.012
R-HSA-8953854 Metabolism of RNA 9.744799e-01 0.011
R-HSA-449147 Signaling by Interleukins 9.749891e-01 0.011
R-HSA-5368287 Mitochondrial translation 9.767737e-01 0.010
R-HSA-9948299 Ribosome-associated quality control 9.767737e-01 0.010
R-HSA-166658 Complement cascade 9.808921e-01 0.008
R-HSA-597592 Post-translational protein modification 9.813387e-01 0.008
R-HSA-453279 Mitotic G1 phase and G1/S transition 9.813528e-01 0.008
R-HSA-446203 Asparagine N-linked glycosylation 9.826708e-01 0.008
R-HSA-9679191 Potential therapeutics for SARS 9.830873e-01 0.007
R-HSA-168273 Influenza Viral RNA Transcription and Replication 9.850309e-01 0.007
R-HSA-388396 GPCR downstream signalling 9.854363e-01 0.006
R-HSA-9610379 HCMV Late Events 9.857445e-01 0.006
R-HSA-202733 Cell surface interactions at the vascular wall 9.860086e-01 0.006
R-HSA-168256 Immune System 9.860261e-01 0.006
R-HSA-5619115 Disorders of transmembrane transporters 9.886812e-01 0.005
R-HSA-72306 tRNA processing 9.898743e-01 0.004
R-HSA-372790 Signaling by GPCR 9.900492e-01 0.004
R-HSA-5688426 Deubiquitination 9.904551e-01 0.004
R-HSA-5689880 Ub-specific processing proteases 9.905903e-01 0.004
R-HSA-168255 Influenza Infection 9.918744e-01 0.004
R-HSA-9734767 Developmental Cell Lineages 9.919569e-01 0.004
R-HSA-3781865 Diseases of glycosylation 9.928098e-01 0.003
R-HSA-211945 Phase I - Functionalization of compounds 9.941763e-01 0.003
R-HSA-9679506 SARS-CoV Infections 9.947511e-01 0.002
R-HSA-1483206 Glycerophospholipid biosynthesis 9.954841e-01 0.002
R-HSA-6805567 Keratinization 9.959057e-01 0.002
R-HSA-500792 GPCR ligand binding 9.970589e-01 0.001
R-HSA-373076 Class A/1 (Rhodopsin-like receptors) 9.975117e-01 0.001
R-HSA-9824446 Viral Infection Pathways 9.976060e-01 0.001
R-HSA-382551 Transport of small molecules 9.982482e-01 0.001
R-HSA-1643685 Disease 9.984993e-01 0.001
R-HSA-1428517 Aerobic respiration and respiratory electron transport 9.985341e-01 0.001
R-HSA-556833 Metabolism of lipids 9.985423e-01 0.001
R-HSA-72766 Translation 9.987861e-01 0.001
R-HSA-425407 SLC-mediated transmembrane transport 9.995904e-01 0.000
R-HSA-5663205 Infectious disease 9.997989e-01 0.000
R-HSA-196854 Metabolism of vitamins and cofactors 9.999163e-01 0.000
R-HSA-392499 Metabolism of proteins 9.999319e-01 0.000
R-HSA-8978868 Fatty acid metabolism 9.999719e-01 0.000
R-HSA-211859 Biological oxidations 9.999772e-01 0.000
R-HSA-5668914 Diseases of metabolism 9.999829e-01 0.000
R-HSA-9709957 Sensory Perception 1.000000e+00 0.000
R-HSA-1430728 Metabolism 1.000000e+00 0.000
Download
kinase JSD_mean pearson_surrounding kinase_max_IC_position max_position_JSD
HIPK4HIPK4 0.765 0.115 1 0.866
COTCOT 0.765 0.033 2 0.821
NLKNLK 0.763 0.138 1 0.902
CDK7CDK7 0.762 0.150 1 0.829
CLK3CLK3 0.761 0.079 1 0.864
KISKIS 0.758 0.111 1 0.837
CDKL5CDKL5 0.757 0.088 -3 0.839
CDK8CDK8 0.756 0.137 1 0.821
CDKL1CDKL1 0.756 0.076 -3 0.843
MTORMTOR 0.756 0.014 1 0.806
CDK19CDK19 0.755 0.139 1 0.798
ICKICK 0.755 0.118 -3 0.875
SRPK1SRPK1 0.755 0.066 -3 0.799
CDK5CDK5 0.755 0.122 1 0.838
CDK18CDK18 0.755 0.143 1 0.783
CDC7CDC7 0.754 -0.018 1 0.754
NDR2NDR2 0.754 0.035 -3 0.867
ERK5ERK5 0.752 0.069 1 0.813
PIM3PIM3 0.752 0.027 -3 0.871
HIPK2HIPK2 0.752 0.149 1 0.790
PRPKPRPK 0.751 -0.024 -1 0.857
PRKD1PRKD1 0.751 0.040 -3 0.865
MOSMOS 0.751 0.008 1 0.785
RIPK3RIPK3 0.750 -0.029 3 0.245
DYRK2DYRK2 0.749 0.131 1 0.840
GCN2GCN2 0.749 -0.067 2 0.783
TBK1TBK1 0.749 -0.018 1 0.684
CDK13CDK13 0.749 0.118 1 0.814
CDK17CDK17 0.749 0.142 1 0.743
RAF1RAF1 0.747 -0.032 1 0.778
CDK1CDK1 0.747 0.112 1 0.801
SRPK2SRPK2 0.747 0.059 -3 0.732
NUAK2NUAK2 0.746 0.019 -3 0.858
ERK1ERK1 0.746 0.147 1 0.789
CDK3CDK3 0.746 0.105 1 0.754
PKN3PKN3 0.746 0.017 -3 0.852
HIPK1HIPK1 0.746 0.140 1 0.853
NDR1NDR1 0.746 0.019 -3 0.860
CAMK1BCAMK1B 0.745 0.007 -3 0.880
CDK9CDK9 0.745 0.115 1 0.822
P90RSKP90RSK 0.745 0.033 -3 0.821
PDHK4PDHK4 0.745 -0.088 1 0.809
P38AP38A 0.745 0.144 1 0.835
TGFBR2TGFBR2 0.745 0.002 -2 0.766
ATRATR 0.745 0.008 1 0.810
HIPK3HIPK3 0.744 0.141 1 0.851
DYRK1ADYRK1A 0.744 0.127 1 0.867
ULK2ULK2 0.744 -0.054 2 0.783
CDK12CDK12 0.744 0.119 1 0.798
PRKD2PRKD2 0.744 0.028 -3 0.810
IKKEIKKE 0.743 -0.040 1 0.670
MST4MST4 0.743 -0.006 2 0.831
NEK6NEK6 0.743 -0.017 -2 0.854
PKCDPKCD 0.743 0.012 2 0.783
MLK1MLK1 0.743 -0.017 2 0.796
MARK4MARK4 0.743 -0.037 4 0.277
WNK1WNK1 0.743 -0.005 -2 0.895
RSK2RSK2 0.742 0.020 -3 0.818
WNK3WNK3 0.742 -0.022 1 0.770
SKMLCKSKMLCK 0.742 0.005 -2 0.861
RSK3RSK3 0.742 0.025 -3 0.810
PDHK1PDHK1 0.742 -0.069 1 0.785
ERK2ERK2 0.742 0.132 1 0.826
CDK14CDK14 0.742 0.130 1 0.816
JNK2JNK2 0.742 0.139 1 0.802
BMPR2BMPR2 0.741 -0.063 -2 0.879
CHAK2CHAK2 0.741 -0.017 -1 0.830
MLK2MLK2 0.741 0.012 2 0.811
IRE2IRE2 0.741 0.011 2 0.755
NIKNIK 0.741 0.000 -3 0.888
AMPKA1AMPKA1 0.741 -0.003 -3 0.869
PIM1PIM1 0.741 0.030 -3 0.820
SRPK3SRPK3 0.741 0.037 -3 0.771
PKN2PKN2 0.741 0.002 -3 0.849
CAMLCKCAMLCK 0.741 0.009 -2 0.847
P38BP38B 0.741 0.145 1 0.782
CDK2CDK2 0.740 0.063 1 0.841
IKKBIKKB 0.740 -0.071 -2 0.752
BCKDKBCKDK 0.740 -0.044 -1 0.829
P38GP38G 0.740 0.143 1 0.741
DAPK2DAPK2 0.740 0.017 -3 0.886
IRE1IRE1 0.740 -0.021 1 0.744
PHKG1PHKG1 0.740 0.024 -3 0.854
RIPK1RIPK1 0.740 -0.025 1 0.782
NUAK1NUAK1 0.740 0.018 -3 0.818
AMPKA2AMPKA2 0.739 0.010 -3 0.843
DSTYKDSTYK 0.739 -0.039 2 0.830
NEK7NEK7 0.739 -0.053 -3 0.831
CDK16CDK16 0.739 0.128 1 0.755
LATS2LATS2 0.739 -0.002 -5 0.761
JNK3JNK3 0.738 0.129 1 0.814
TSSK1TSSK1 0.738 0.005 -3 0.887
CAMK2GCAMK2G 0.738 -0.088 2 0.759
MASTLMASTL 0.737 -0.066 -2 0.840
MAPKAPK3MAPKAPK3 0.737 0.009 -3 0.819
MLK3MLK3 0.737 -0.007 2 0.739
PKCAPKCA 0.737 0.013 2 0.732
GSK3AGSK3A 0.737 -0.013 4 0.136
CDK10CDK10 0.737 0.118 1 0.809
CLK4CLK4 0.737 0.067 -3 0.801
NEK9NEK9 0.737 -0.021 2 0.824
NIM1NIM1 0.737 -0.032 3 0.249
CLK1CLK1 0.736 0.069 -3 0.779
CAMK2DCAMK2D 0.736 -0.026 -3 0.869
PKCZPKCZ 0.736 0.017 2 0.772
MELKMELK 0.735 0.026 -3 0.833
PKCBPKCB 0.735 0.007 2 0.739
PRKD3PRKD3 0.735 0.039 -3 0.782
DYRK1BDYRK1B 0.735 0.127 1 0.805
P70S6KBP70S6KB 0.735 0.014 -3 0.829
IKKAIKKA 0.735 -0.034 -2 0.748
ANKRD3ANKRD3 0.734 -0.025 1 0.806
PKACGPKACG 0.734 0.004 -2 0.730
QSKQSK 0.734 -0.026 4 0.272
DYRK4DYRK4 0.734 0.120 1 0.796
GRK1GRK1 0.734 -0.027 -2 0.789
PKCGPKCG 0.734 -0.004 2 0.728
HUNKHUNK 0.733 -0.089 2 0.746
CLK2CLK2 0.733 0.065 -3 0.792
QIKQIK 0.733 -0.026 -3 0.851
ATMATM 0.733 -0.004 1 0.757
GSK3BGSK3B 0.732 -0.045 4 0.136
TSSK2TSSK2 0.732 -0.012 -5 0.841
GRK5GRK5 0.732 -0.092 -3 0.848
SIKSIK 0.732 -0.003 -3 0.795
MNK2MNK2 0.731 0.004 -2 0.790
AURCAURC 0.731 0.016 -2 0.633
MAPKAPK2MAPKAPK2 0.731 0.001 -3 0.784
MSK2MSK2 0.731 0.008 -3 0.795
LATS1LATS1 0.731 0.015 -3 0.884
DLKDLK 0.731 -0.050 1 0.785
RSK4RSK4 0.731 0.030 -3 0.789
CDK4CDK4 0.730 0.122 1 0.788
CHAK1CHAK1 0.730 -0.038 2 0.786
ULK1ULK1 0.730 -0.080 -3 0.800
CAMK2ACAMK2A 0.730 -0.026 2 0.739
P38DP38D 0.730 0.136 1 0.758
BRSK2BRSK2 0.730 -0.034 -3 0.841
MARK2MARK2 0.729 -0.046 4 0.237
CAMK2BCAMK2B 0.729 -0.038 2 0.717
PAK3PAK3 0.729 -0.008 -2 0.783
CAMK4CAMK4 0.729 -0.018 -3 0.840
PKCHPKCH 0.729 -0.005 2 0.727
CDK6CDK6 0.729 0.107 1 0.804
DYRK3DYRK3 0.729 0.102 1 0.845
IRAK4IRAK4 0.729 0.022 1 0.758
VRK2VRK2 0.729 0.003 1 0.840
PKRPKR 0.727 -0.017 1 0.785
MAKMAK 0.727 0.139 -2 0.814
DNAPKDNAPK 0.727 0.001 1 0.722
PAK1PAK1 0.726 -0.010 -2 0.784
MARK3MARK3 0.726 -0.050 4 0.252
GRK6GRK6 0.726 -0.107 1 0.769
BRSK1BRSK1 0.726 -0.035 -3 0.823
MLK4MLK4 0.725 -0.046 2 0.715
PKG2PKG2 0.725 0.017 -2 0.652
MNK1MNK1 0.725 -0.010 -2 0.800
PKCTPKCT 0.725 0.007 2 0.739
AURBAURB 0.725 0.010 -2 0.632
SNRKSNRK 0.724 -0.051 2 0.671
SMG1SMG1 0.724 -0.012 1 0.769
MPSK1MPSK1 0.724 0.059 1 0.746
MOKMOK 0.724 0.129 1 0.824
MSK1MSK1 0.724 0.005 -3 0.794
PRP4PRP4 0.724 0.064 -3 0.753
MYLK4MYLK4 0.724 0.002 -2 0.756
TTBK2TTBK2 0.723 -0.067 2 0.678
SGK3SGK3 0.723 0.027 -3 0.794
PLK1PLK1 0.723 -0.051 -2 0.799
MEKK1MEKK1 0.723 -0.004 1 0.764
GRK4GRK4 0.722 -0.092 -2 0.820
NEK2NEK2 0.722 -0.041 2 0.803
ALK4ALK4 0.722 -0.031 -2 0.804
WNK4WNK4 0.722 -0.007 -2 0.898
MARK1MARK1 0.722 -0.052 4 0.270
PAK2PAK2 0.722 -0.021 -2 0.771
AKT2AKT2 0.722 0.023 -3 0.734
FAM20CFAM20C 0.722 -0.025 2 0.542
PIM2PIM2 0.721 0.026 -3 0.787
PKACBPKACB 0.721 0.017 -2 0.650
MEK1MEK1 0.720 -0.074 2 0.799
CHK1CHK1 0.720 -0.004 -3 0.850
CAMK1GCAMK1G 0.720 0.004 -3 0.799
YSK4YSK4 0.720 -0.052 1 0.717
TGFBR1TGFBR1 0.720 -0.032 -2 0.773
PHKG2PHKG2 0.720 -0.010 -3 0.812
DRAK1DRAK1 0.719 -0.030 1 0.739
DCAMKL1DCAMKL1 0.719 0.011 -3 0.812
BMPR1BBMPR1B 0.719 -0.001 1 0.716
JNK1JNK1 0.719 0.094 1 0.780
MST3MST3 0.718 0.001 2 0.806
NEK5NEK5 0.718 0.001 1 0.783
GRK7GRK7 0.718 -0.040 1 0.725
HRIHRI 0.717 -0.057 -2 0.838
ZAKZAK 0.717 -0.035 1 0.737
PAK6PAK6 0.717 -0.014 -2 0.700
PRKXPRKX 0.717 0.028 -3 0.715
MEK5MEK5 0.717 -0.049 2 0.811
TLK2TLK2 0.716 -0.062 1 0.741
MAPKAPK5MAPKAPK5 0.716 -0.027 -3 0.772
PERKPERK 0.716 -0.065 -2 0.820
PKCIPKCI 0.715 -0.012 2 0.739
SSTKSSTK 0.715 -0.029 4 0.276
PLK4PLK4 0.715 -0.044 2 0.600
MEKK2MEKK2 0.715 -0.019 2 0.798
AKT1AKT1 0.715 0.025 -3 0.749
ERK7ERK7 0.715 0.033 2 0.518
TAO3TAO3 0.714 -0.022 1 0.758
ACVR2AACVR2A 0.714 -0.028 -2 0.754
PKCEPKCE 0.713 0.002 2 0.719
PKN1PKN1 0.713 0.024 -3 0.766
AURAAURA 0.713 -0.010 -2 0.603
SMMLCKSMMLCK 0.712 -0.002 -3 0.845
PLK3PLK3 0.712 -0.084 2 0.715
PASKPASK 0.712 -0.016 -3 0.879
PINK1PINK1 0.712 -0.041 1 0.824
ACVR2BACVR2B 0.711 -0.033 -2 0.768
P70S6KP70S6K 0.711 0.007 -3 0.752
CK1ECK1E 0.711 -0.003 -3 0.542
NEK11NEK11 0.711 -0.029 1 0.758
MEKK3MEKK3 0.711 -0.064 1 0.760
ALK2ALK2 0.711 -0.046 -2 0.782
IRAK1IRAK1 0.711 -0.071 -1 0.773
BRAFBRAF 0.710 -0.047 -4 0.853
DCAMKL2DCAMKL2 0.710 -0.011 -3 0.833
CAMK1DCAMK1D 0.710 0.016 -3 0.735
MAP3K15MAP3K15 0.708 0.010 1 0.730
PKACAPKACA 0.708 0.015 -2 0.591
GRK2GRK2 0.708 -0.040 -2 0.698
MEKK6MEKK6 0.708 -0.001 1 0.744
TAO2TAO2 0.708 -0.041 2 0.830
TLK1TLK1 0.707 -0.063 -2 0.800
PDK1PDK1 0.707 0.003 1 0.768
NEK4NEK4 0.707 -0.017 1 0.751
NEK8NEK8 0.706 -0.044 2 0.807
CHK2CHK2 0.705 0.029 -3 0.683
DAPK3DAPK3 0.705 0.008 -3 0.831
GCKGCK 0.704 -0.024 1 0.756
BMPR1ABMPR1A 0.703 -0.019 1 0.693
AKT3AKT3 0.703 0.023 -3 0.682
KHS1KHS1 0.703 0.011 1 0.731
LKB1LKB1 0.703 -0.032 -3 0.833
SGK1SGK1 0.703 0.036 -3 0.666
HGKHGK 0.703 -0.042 3 0.278
PAK5PAK5 0.702 -0.019 -2 0.636
GAKGAK 0.702 -0.017 1 0.790
TNIKTNIK 0.702 -0.040 3 0.276
NEK1NEK1 0.701 0.000 1 0.761
CK1G1CK1G1 0.701 -0.034 -3 0.535
MINKMINK 0.701 -0.034 1 0.740
PAK4PAK4 0.700 -0.018 -2 0.641
LRRK2LRRK2 0.700 -0.035 2 0.821
CAMK1ACAMK1A 0.700 0.020 -3 0.699
CK1DCK1D 0.700 -0.005 -3 0.492
VRK1VRK1 0.700 -0.030 2 0.788
TTBK1TTBK1 0.700 -0.080 2 0.603
KHS2KHS2 0.700 -0.005 1 0.752
CAMKK1CAMKK1 0.699 -0.066 -2 0.767
EEF2KEEF2K 0.699 -0.068 3 0.249
ROCK2ROCK2 0.699 0.027 -3 0.816
MST2MST2 0.699 -0.032 1 0.748
HPK1HPK1 0.699 -0.022 1 0.744
DAPK1DAPK1 0.699 -0.002 -3 0.814
LOKLOK 0.698 -0.032 -2 0.782
RIPK2RIPK2 0.698 -0.083 1 0.696
SBKSBK 0.698 0.042 -3 0.630
MRCKAMRCKA 0.698 0.014 -3 0.789
BUB1BUB1 0.697 0.009 -5 0.785
CK1A2CK1A2 0.697 -0.012 -3 0.491
CAMKK2CAMKK2 0.697 -0.071 -2 0.763
MRCKBMRCKB 0.696 0.014 -3 0.770
YSK1YSK1 0.696 -0.030 2 0.807
NEK3NEK3 0.695 -0.017 1 0.729
CK2A2CK2A2 0.694 -0.078 1 0.598
TAK1TAK1 0.693 -0.063 1 0.772
PDHK3_TYRPDHK3_TYR 0.693 0.096 4 0.320
MST1MST1 0.692 -0.045 1 0.731
TTKTTK 0.692 -0.000 -2 0.806
PBKPBK 0.691 -0.000 1 0.703
PKG1PKG1 0.691 0.010 -2 0.557
SLKSLK 0.691 -0.046 -2 0.724
GRK3GRK3 0.690 -0.052 -2 0.648
PKMYT1_TYRPKMYT1_TYR 0.689 0.102 3 0.280
MEK2MEK2 0.689 -0.086 2 0.789
PLK2PLK2 0.688 -0.064 -3 0.775
DMPK1DMPK1 0.688 0.026 -3 0.787
STK33STK33 0.688 -0.090 2 0.594
CK2A1CK2A1 0.687 -0.082 1 0.582
HASPINHASPIN 0.687 -0.010 -1 0.674
ROCK1ROCK1 0.687 0.025 -3 0.784
LIMK2_TYRLIMK2_TYR 0.686 0.057 -3 0.897
CRIKCRIK 0.686 0.024 -3 0.754
TESK1_TYRTESK1_TYR 0.685 0.035 3 0.290
MYO3BMYO3B 0.685 -0.025 2 0.820
PDHK4_TYRPDHK4_TYR 0.684 0.028 2 0.843
TAO1TAO1 0.684 -0.042 1 0.690
MAP2K4_TYRMAP2K4_TYR 0.683 0.055 -1 0.875
ROS1ROS1 0.682 0.001 3 0.266
OSR1OSR1 0.682 -0.053 2 0.787
ASK1ASK1 0.682 -0.026 1 0.714
MAP2K6_TYRMAP2K6_TYR 0.680 0.003 -1 0.881
LIMK1_TYRLIMK1_TYR 0.680 0.040 2 0.837
MYO3AMYO3A 0.680 -0.047 1 0.740
BIKEBIKE 0.679 0.003 1 0.681
MAP2K7_TYRMAP2K7_TYR 0.678 -0.054 2 0.828
YANK3YANK3 0.676 -0.050 2 0.368
TYRO3TYRO3 0.676 -0.037 3 0.260
MST1RMST1R 0.675 -0.056 3 0.258
PDHK1_TYRPDHK1_TYR 0.675 -0.033 -1 0.884
RETRET 0.675 -0.041 1 0.764
TNNI3K_TYRTNNI3K_TYR 0.674 0.040 1 0.767
JAK2JAK2 0.674 -0.029 1 0.759
CSF1RCSF1R 0.674 -0.045 3 0.244
BMPR2_TYRBMPR2_TYR 0.674 -0.012 -1 0.871
PINK1_TYRPINK1_TYR 0.674 -0.081 1 0.795
TYK2TYK2 0.674 -0.035 1 0.749
JAK1JAK1 0.673 0.027 1 0.704
ABL2ABL2 0.673 0.021 -1 0.790
EPHB4EPHB4 0.672 -0.003 -1 0.844
JAK3JAK3 0.672 0.008 1 0.743
TXKTXK 0.672 0.044 1 0.752
TNK2TNK2 0.672 -0.026 3 0.233
YES1YES1 0.671 -0.037 -1 0.844
ALPHAK3ALPHAK3 0.670 -0.043 -1 0.758
TNK1TNK1 0.670 -0.037 3 0.249
NEK10_TYRNEK10_TYR 0.670 0.043 1 0.657
ITKITK 0.669 0.018 -1 0.803
ABL1ABL1 0.669 0.011 -1 0.782
FGRFGR 0.669 -0.039 1 0.781
LCKLCK 0.667 -0.019 -1 0.827
DDR2DDR2 0.667 -0.046 3 0.214
INSRRINSRR 0.667 -0.073 3 0.227
EPHA6EPHA6 0.666 -0.061 -1 0.853
AAK1AAK1 0.665 0.018 1 0.594
HCKHCK 0.665 -0.047 -1 0.829
DDR1DDR1 0.665 -0.161 4 0.265
BLKBLK 0.665 -0.018 -1 0.828
KDRKDR 0.664 -0.063 3 0.234
PDGFRBPDGFRB 0.664 -0.078 3 0.259
CK1ACK1A 0.664 -0.032 -3 0.399
METMET 0.663 -0.046 3 0.240
STLK3STLK3 0.663 -0.069 1 0.704
FGFR1FGFR1 0.661 -0.073 3 0.236
TEKTEK 0.660 -0.117 3 0.217
AXLAXL 0.660 -0.084 3 0.241
FERFER 0.659 -0.105 1 0.785
KITKIT 0.658 -0.094 3 0.232
FGFR2FGFR2 0.658 -0.105 3 0.227
ALKALK 0.658 -0.100 3 0.222
EPHB1EPHB1 0.657 -0.080 1 0.754
BMXBMX 0.657 -0.026 -1 0.714
EPHB2EPHB2 0.657 -0.046 -1 0.820
SRMSSRMS 0.657 -0.074 1 0.760
INSRINSR 0.656 -0.073 3 0.227
MERTKMERTK 0.656 -0.087 3 0.230
EPHB3EPHB3 0.656 -0.087 -1 0.831
TECTEC 0.656 -0.063 -1 0.730
PDGFRAPDGFRA 0.655 -0.125 3 0.247
FLT3FLT3 0.655 -0.119 3 0.255
WEE1_TYRWEE1_TYR 0.655 -0.054 -1 0.753
FYNFYN 0.655 -0.028 -1 0.812
LYNLYN 0.653 -0.070 3 0.220
BTKBTK 0.653 -0.073 -1 0.766
EPHA4EPHA4 0.652 -0.086 2 0.698
NTRK2NTRK2 0.652 -0.098 3 0.249
LTKLTK 0.651 -0.113 3 0.225
EPHA1EPHA1 0.650 -0.116 3 0.222
PTK6PTK6 0.650 -0.090 -1 0.730
FRKFRK 0.648 -0.086 -1 0.818
EPHA7EPHA7 0.648 -0.092 2 0.711
SRCSRC 0.647 -0.055 -1 0.802
NTRK1NTRK1 0.647 -0.136 -1 0.823
FGFR3FGFR3 0.646 -0.116 3 0.215
FLT4FLT4 0.646 -0.126 3 0.222
FLT1FLT1 0.646 -0.079 -1 0.823
PTK2BPTK2B 0.646 -0.062 -1 0.770
YANK2YANK2 0.646 -0.061 2 0.387
NTRK3NTRK3 0.645 -0.087 -1 0.776
ERBB2ERBB2 0.644 -0.123 1 0.703
EPHA3EPHA3 0.644 -0.110 2 0.683
CK1G3CK1G3 0.641 -0.046 -3 0.349
EPHA5EPHA5 0.637 -0.105 2 0.683
IGF1RIGF1R 0.637 -0.106 3 0.201
EPHA8EPHA8 0.637 -0.101 -1 0.808
CSKCSK 0.635 -0.102 2 0.724
MATKMATK 0.634 -0.099 -1 0.708
PTK2PTK2 0.631 -0.037 -1 0.800
EGFREGFR 0.630 -0.078 1 0.621
FGFR4FGFR4 0.629 -0.102 -1 0.756
EPHA2EPHA2 0.629 -0.092 -1 0.775
MUSKMUSK 0.629 -0.094 1 0.595
ERBB4ERBB4 0.628 -0.059 1 0.622
CK1G2CK1G2 0.628 -0.051 -3 0.446
SYKSYK 0.627 -0.040 -1 0.774
FESFES 0.623 -0.097 -1 0.693
ZAP70ZAP70 0.616 -0.020 -1 0.700