Datasets:

Tanvir106
/

final_comutation

Gene,Status,Accession,ProteinName,FunctionSummary,GO_BP,GO_MF,GO_CC
ABTB2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8N961,Ankyrin repeat and BTB/POZ domain-containing protein 2,May be involved in the initiation of hepatocyte growth,,F:protein heterodimerization activity,C:nucleoplasm
ACBD6,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BR61,Acyl-CoA-binding domain-containing protein 6,"Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristoylation (PubMed:37951597)",,F:enzyme activator activity | F:fatty-acyl-CoA binding | F:lipid binding,C:cytoplasm | C:cytosol | C:endoplasmic reticulum | C:nucleus | C:plasma membrane
AGRP,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O00253,Agouti-related protein,"Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptors MC3R and MC4R by precluding agonist-induced signaling, thereby inhibiting cAMP production within the hypothalamus and adrenal gland (PubMed:10371151, PubMed:11145747, PubMed:9311920, PubMed:9892020). Involved in the control of feeding behavior via the central melanocortin system (PubMed:15927146, PubMed:9311920). Has very low activity towards MC5R (PubMed:9311920, PubMed:9892020). Also promotes endocytosis of MC3R and MC4R in an arrestin-dependent mechanism (PubMed:17041250)",P:adult feeding behavior | P:circadian rhythm | P:eating behavior | P:hormone-mediated signaling pathway | P:long-day photoperiodism | P:maternal process involved in female pregnancy | P:negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway | P:neuropeptide signaling pathway | P:positive regulation of appetite | P:positive regulation of feeding behavior | P:regulation of appetite | P:regulation of feeding behavior | P:response to insulin,F:neuropeptide hormone activity | F:receptor antagonist activity | F:signaling receptor binding | F:type 1 melanocortin receptor binding,C:extracellular region | C:Golgi lumen | C:neuronal cell body
ASIC3,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9UHC3,Acid-sensing ion channel 3,"Forms pH-gated heterotrimeric sodium channels that act as postsynaptic excitatory receptors in the nervous system (PubMed:10842183, PubMed:11587714, PubMed:9744806, PubMed:9886053). Upon extracellular acidification, these channels generate a biphasic current with a fast inactivating and a slow sustained phase (PubMed:10842183, PubMed:9744806, PubMed:9886053). ASIC3 is more sensitive to protons and gates between closed, open, and desensitized states faster than other ASICs (By similarity). Displays high selectivity for sodium ions but can also permit the permeation of other cations (PubMed:9744806, PubMed:9886053). As a neuronal acid sensor, probably contributes to mechanoreception, acid noci",P:detection of chemical stimulus involved in sensory perception of pain | P:membrane depolarization | P:sensory perception of sour taste | P:sodium ion transmembrane transport,F:pH-gated monoatomic ion channel activity | F:pH-gated sodium channel activity | F:sodium channel activity,C:cytoplasm | C:plasma membrane
B3GALNT1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O75752,"UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1",Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity),P:glycoprotein biosynthetic process | P:glycosphingolipid biosynthetic process | P:oligosaccharide biosynthetic process,"F:galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity | F:N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity",C:Golgi membrane
BORCS6,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q96GS4,BLOC-1-related complex subunit 6,"As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor",P:lysosome localization | P:organelle transport along microtubule | P:regulation of endosome size | P:regulation of lysosome size,F:identical protein binding,C:BORC complex | C:cytoplasmic side of lysosomal membrane
BRAF,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P15056,Serine/threonine-protein kinase B-raf,"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)",P:animal organ morphogenesis | P:cellular response to calcium ion | P:epidermal growth factor receptor signaling pathway | P:establishment of protein localization to membrane | P:MAPK cascade | P:negative regulation of apoptotic process | P:positive regulation of D-glucose transmembrane transport | P:positive regulation of ERK1 and ERK2 cascade | P:positive regulation of gene expression | P:positive regulation of peptidyl-serine phosphorylation | P:protein phosphorylation,F:ATP binding | F:calcium ion binding | F:identical protein binding | F:MAP kinase kinase activity | F:MAP kinase kinase kinase activity | F:protein kinase activity | F:protein serine kinase activity | F:protein serine/threonine kinase activity | F:scaffold protein binding,C:cytoplasm | C:cytosol | C:mitochondrion | C:nucleus | C:plasma membrane
CCL3L3,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P16619,C-C motif chemokine 3-like 1,"Chemotactic for lymphocytes and monocytes. Is a ligand for CCR1, CCR3 and CCR5. Is an inhibitor of HIV-1-infection. The processed form LD78-beta(3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1-infection. LD78-beta(3-70) is also a ligand for CCR1, CCR3 and CCR5",P:antimicrobial humoral immune response mediated by antimicrobial peptide | P:cell chemotaxis | P:chemokine-mediated signaling pathway | P:inflammatory response | P:negative regulation of cell population proliferation | P:positive regulation of cell migration,F:CCR chemokine receptor binding | F:chemokine activity,C:extracellular region
CD79A,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P11912,B-cell antigen receptor complex-associated protein alpha chain,"Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B-cells",P:B cell activation | P:B cell differentiation | P:B cell proliferation | P:B cell receptor signaling pathway,F:identical protein binding | F:transmembrane signaling receptor activity,C:B cell receptor complex | C:external side of plasma membrane | C:IgM B cell receptor complex | C:membrane raft | C:multivesicular body | C:plasma membrane
CDK19,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BWU1,Cyclin-dependent kinase 19,"Component of the Mediator complex, a transcriptional coactivator required for regulated expression of nearly all RNA polymerase II-dependent genes. Acts as a molecular bridge between gene-specific regulatory proteins and the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters through direct interactions with transcriptional regulators and serves as a scaffold for assembly of the pre-initiation complex with RNA polymerase II and general transcription factors. Contributes to phosphorylation of transcription factors and other substrates, including RNA polymerase II and the Notch1 intracellular domain (ICN1), thereby modulating gene expression programs (PubMed:253",P:cellular response to lipopolysaccharide | P:positive regulation of apoptotic process | P:regulation of transcription by RNA polymerase II,F:ATP binding | F:cyclin-dependent protein serine/threonine kinase activity | F:protein serine kinase activity | F:protein serine/threonine kinase activity,C:CKM complex | C:cytoplasm | C:cytosol | C:nucleoplasm | C:nucleus | C:perinuclear region of cytoplasm
CDKN1A,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P38936,Cyclin-dependent kinase inhibitor 1,"Plays an important role in controlling cell cycle progression and DNA damage-induced G2 arrest (PubMed:9106657). Involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Also involved in p53-independent DNA damage-induced G2 arrest mediated by CREB3L1 in astrocytes and osteoblasts (By similarity). Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin","P:cellular response to amino acid starvation | P:cellular response to cell-matrix adhesion | P:cellular response to ionizing radiation | P:cellular response to UV-B | P:cellular senescence | P:DNA damage response | P:DNA damage response, signal transduction by p53 class mediator | P:G1/S transition of mitotic cell cycle | P:heart development | P:import into nucleus | P:intrinsic apoptotic signaling pathway | P:mitotic G1 DNA damage checkpoint signaling | P:mitotic G2 DNA damage checkpoint signaling | P:negative regulation of cardiac muscle tissue regeneration | P:negative regulation of cell growth | P:negative regulation of cell population proliferation | P:negative regulation of DNA biosynt",F:cyclin binding | F:cyclin-dependent protein serine/threonine kinase inhibitor activity | F:molecular function activator activity | F:molecular function inhibitor activity | F:protein kinase binding | F:protein kinase inhibitor activity | F:protein sequestering activity | F:protein serine/threonine kinase binding | F:protein-containing complex binding | F:ubiquitin protein ligase binding,C:cyclin-dependent protein kinase holoenzyme complex | C:cytoplasm | C:cytosol | C:nuclear body | C:nucleolus | C:nucleoplasm | C:nucleus | C:PCNA-p21 complex | C:protein-containing complex
CHURC1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8WUH1,Protein Churchill,Transcriptional activator that mediates FGF signaling during neural development (By similarity). Plays a role in the regulation of cell movement (By similarity) | Does not bind DNA by itself,P:fibroblast growth factor receptor signaling pathway | P:positive regulation of DNA-templated transcription,F:zinc ion binding,
CNBP,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P62633,CCHC-type zinc finger nucleic acid binding protein,"Single-stranded DNA-binding protein that preferentially binds to the sterol regulatory element (SRE) sequence 5'-GTGCGGTG-3', and thereby mediates transcriptional repression (PubMed:2562787). Has a role as transactivator of the Myc promoter (By similarity). Binds single-stranded RNA in a sequence-specific manner (By similarity) | Binds G-rich elements in target mRNA coding sequences (PubMed:28329689). Prevents G-quadruplex structure formation in vitro, suggesting a role in supporting translation by resolving stable structures on mRNAs (PubMed:28329689) | Binds to RNA | Binds to RNA | Binds to RNA | Binds to RNA | Binds to RNA",P:cholesterol homeostasis | P:G-quadruplex DNA formation | P:negative regulation of transcription by RNA polymerase II | P:positive regulation of cell population proliferation | P:positive regulation of cytoplasmic translation | P:positive regulation of DNA-templated transcription | P:positive regulation of transcription by RNA polymerase II | P:regulation of DNA-templated transcription,F:G-quadruplex DNA binding | F:mRNA binding | F:RNA binding | F:single-stranded RNA binding | F:translation regulator activity | F:zinc ion binding,C:cytoplasm | C:cytosol | C:endoplasmic reticulum | C:nucleus
CNOT4,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O95628,CCR4-NOT transcription complex subunit 4,"Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins (PubMed:11823428, PubMed:22159038, PubMed:26575292). Involved in activation of the JAK/STAT pathway (PubMed:11823428, PubMed:22159038). Catalyzes ubiquitination of methylated RBM15 (PubMed:26575292). Plays a role in quality control of translation of mitochondrial outer membrane-localized mRNA (PubMed:29861391). As part of the PINK1-regulated signaling, upon mitochondria damage, ubiquitinates ABCE1 and thereby recruits autophagy receptors to the mitochondrial outer membrane to initiate mitophagy (PubMed:29861391)",P:deadenylation-independent decapping of nuclear-transcribed mRNA | P:nuclear-transcribed mRNA poly(A) tail shortening | P:protein autoubiquitination | P:regulation of megakaryocyte differentiation | P:ubiquitin-dependent protein catabolic process,F:metal ion binding | F:RNA binding | F:ubiquitin protein ligase activity | F:ubiquitin-protein transferase activity,C:CCR4-NOT complex | C:cytosol | C:nucleus
CPEB1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BZB8,Cytoplasmic polyadenylation element-binding protein 1,"Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). In absence of phosphorylation and in association with TACC3 is also involved as a repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation (By similarity). Involved in the transport of CPE",P:cellular response to amino acid stimulus | P:cellular response to hypoxia | P:cellular response to insulin stimulus | P:negative regulation of cytoplasmic translation | P:regulation of mRNA 3'-end processing,"F:mRNA 3'-UTR AU-rich region binding | F:mRNA 3'-UTR binding | F:mRNA regulatory element binding translation repressor activity | F:ribosome binding | F:translation factor activity, RNA binding",C:cytoplasm | C:cytosol | C:dendrite | C:membrane | C:neuron projection | C:nucleoplasm | C:nucleus | C:P-body | C:postsynaptic density | C:synapse
CRYL1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9Y2S2,Lambda-crystallin homolog,"Catalyzes the conversion of L-gulonate to 3-dehydro-L-gulonate (PubMed:15809331, PubMed:40737316). It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate (PubMed:15809331). Utilizes NAD as the sole cosubstrate and shows no activity with NADP (PubMed:40737316)",P:fatty acid metabolic process,F:L-gulonate 3-dehydrogenase activity | F:NAD+ binding | F:protein homodimerization activity,C:cytoplasm | C:cytosol | C:extracellular exosome
DHFR,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P00374,Dihydrofolate reductase,"Catalyzes the reduction of 7,8-dihydrofolate (DHF) to 5,6,7,8-tetrahydrofolate in a NADPH-dependent manner (PubMed:12096917, PubMed:15039552, PubMed:17569517, PubMed:19196009, PubMed:19478082, PubMed:21876184, PubMed:9719595). Key enzyme in folate metabolism. Contributes to the nuclear and mitochondrial de novo thymidylate biosynthesis pathway (PubMed:21876188, PubMed:22235121). Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2",P:'de novo' pyrimidine nucleobase biosynthetic process | P:axon regeneration | P:dihydrofolate metabolic process | P:DNA replication | P:folic acid metabolic process | P:negative regulation of translation | P:regulation of removal of superoxide radicals | P:tetrahydrobiopterin biosynthetic process | P:tetrahydrofolate biosynthetic process | P:tetrahydrofolate metabolic process,F:dihydrofolate reductase activity | F:folic acid binding | F:mRNA binding | F:mRNA regulatory element binding translation repressor activity | F:NADP binding | F:NADPH binding | F:sequence-specific mRNA binding,C:cytoplasm | C:cytosol | C:mitochondrion | C:nucleus | C:replication fork
DOK1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q99704,Docking protein 1,DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3,P:cell surface receptor protein tyrosine kinase signaling pathway | P:cell surface receptor signaling pathway | P:Ras protein signal transduction | P:signal transduction,F:signaling adaptor activity,C:cytosol | C:nucleus | C:perinuclear region of cytoplasm
DUSP1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P28562,Dual specificity protein phosphatase 1,"Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle",P:cellular response to chemokine | P:cellular response to hormone stimulus | P:endoderm formation | P:intracellular signal transduction | P:negative regulation of apoptotic process | P:negative regulation of cell adhesion | P:negative regulation of cell population proliferation | P:negative regulation of DNA biosynthetic process | P:negative regulation of ERK1 and ERK2 cascade | P:negative regulation of MAPK cascade | P:negative regulation of meiotic cell cycle | P:negative regulation of monocyte chemotaxis | P:negative regulation of p38MAPK cascade | P:peptidyl-serine dephosphorylation | P:peptidyl-threonine dephosphorylation | P:positive regulation of apoptotic process | P:regulation of mi,F:growth factor binding | F:MAP kinase tyrosine/serine/threonine phosphatase activity | F:mitogen-activated protein kinase binding | F:phosphoprotein phosphatase activity | F:protein serine/threonine phosphatase activity | F:protein tyrosine phosphatase activity | F:protein tyrosine/serine/threonine phosphatase activity,C:cytoplasm | C:nucleus
E2F3,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O00716,Transcription factor E2F3,"Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F3 binds specifically to RB1 in a cell-cycle dependent manner. Inhibits adipogenesis, probably through the repression of CEBPA binding to its target gene promoters (By similarity)",P:G1/S transition of mitotic cell cycle | P:negative regulation of fat cell proliferation | P:positive regulation of transcription by RNA polymerase II | P:positive regulation of vascular associated smooth muscle cell apoptotic process | P:protein import into nucleus | P:regulation of transcription by RNA polymerase II | P:transcription initiation at RNA polymerase II promoter,"F:cis-regulatory region sequence-specific DNA binding | F:DNA-binding transcription activator activity, RNA polymerase II-specific | F:DNA-binding transcription factor activity | F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:protein dimerization activity | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding | F:sequence-specific DNA binding | F:sequence-specific double-stranded DNA binding",C:chromatin | C:nucleoplasm | C:nucleus | C:RNA polymerase II transcription regulator complex
ESCO1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q5FWF5,N-acetyltransferase ESCO1,"Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053)",P:mitotic sister chromatid cohesion | P:peptidyl-lysine acetylation | P:post-translational protein acetylation | P:regulation of DNA replication | P:sister chromatid cohesion,F:acetyltransferase activity | F:identical protein binding | F:N-acetyltransferase activity | F:protein-lysine-acetyltransferase activity | F:zinc ion binding,C:chromatin | C:chromosome | C:nucleoplasm | C:nucleus
FBXO28,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9NVF7,F-box only protein 28,"Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself (PubMed:27754753, PubMed:31678254). Regulates topoisomerase IIalpha/TOP2A decatenation activity and plays an important role in maintaining genomic stability (PubMed:27754753). Plays a role in lipid metabolism and inflammation through the ubiquitinated degradation of RAB27A (By similarity). Strongly regulates beta-cell survival without having any significant independent effect on insulin secretion (PubMed:29587369). Plays an essential role in spindle morphology and actin-based s",P:proteasome-mediated ubiquitin-dependent protein catabolic process | P:protein polyubiquitination | P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process,F:identical protein binding | F:ubiquitin-like ligase-substrate adaptor activity,C:chromosome | C:cytoplasm | C:kinetochore | C:nucleoplasm | C:nucleus | C:SCF ubiquitin ligase complex
FEN1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P39748,Flap endonuclease 1,"Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a genome stabilization factor that prevents flaps from equilibrating into structures that lead to duplications and deletions. Also ","P:base-excision repair, gap-filling | P:DNA recombination | P:DNA repair | P:DNA replication | P:DNA replication, removal of RNA primer | P:double-strand break repair | P:double-strand break repair via homologous recombination | P:memory | P:positive regulation of sister chromatid cohesion | P:telomere maintenance via semi-conservative replication | P:UV protection",F:5'-3' exonuclease activity | F:5'-flap endonuclease activity | F:damaged DNA binding | F:DNA binding | F:double-stranded DNA binding | F:double-stranded DNA exodeoxyribonuclease activity | F:endonuclease activity | F:exonuclease activity | F:flap endonuclease activity | F:magnesium ion binding | F:manganese ion binding | F:RNA-DNA hybrid ribonuclease activity,"C:chromosome, telomeric region | C:membrane | C:mitochondrion | C:nucleolus | C:nucleoplasm | C:nucleus | C:protein-containing complex"
FOXL2NB,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q6ZUU3,FOXL2 neighbor protein,,,,C:fibrillar center
FZD9,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O00144,Frizzled-9,"Receptor for WNT2 that is 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 (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal deve",P:bone regeneration | P:canonical Wnt signaling pathway | P:negative regulation of mitochondrial depolarization | P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | P:negative regulation of necroptotic process | P:negative regulation of neuron apoptotic process | P:negative regulation of skeletal muscle acetylcholine-gated channel clustering | P:nervous system development | P:non-canonical Wnt signaling pathway | P:ossification | P:positive regulation of apoptotic process | P:positive regulation of bone mineralization | P:positive regulation of canonical Wnt signaling pathway | P:positive regulation of neural precursor cell prolif,F:protein heterodimerization activity | F:protein homodimerization activity | F:Wnt receptor activity | F:Wnt-protein binding,C:cell surface | C:cytoplasm | C:endoplasmic reticulum membrane | C:extracellular region | C:Golgi apparatus | C:membrane | C:mitochondrial membrane | C:plasma membrane
GGT6,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q6P531,Glutathione hydrolase 6,Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors,P:glutathione metabolic process | P:leukotriene D4 biosynthetic process,F:glutathione gamma-glutamate hydrolase,C:extracellular exosome | C:membrane
GPRC5B,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9NZH0,G protein-coupled receptor family C group 5 member B,G protein-coupled receptor involved in the regulation of cell volume,P:cell volume homeostasis | P:intracellular signal transduction,F:G protein-coupled receptor activity | F:G protein-coupled receptor binding | F:protein kinase activator activity | F:protein kinase binding | F:protein tyrosine kinase binding,C:cell surface | C:cytoplasmic vesicle membrane | C:extracellular exosome | C:extracellular region | C:membrane raft | C:plasma membrane | C:signaling receptor complex
GPRC5C,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9NQ84,G protein-coupled receptor family C group 5 member C,This retinoic acid-inducible G protein-coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways,P:G protein-coupled receptor signaling pathway,F:G protein-coupled receptor activity | F:protein kinase activator activity,C:cytoplasmic vesicle membrane | C:extracellular exosome | C:plasma membrane | C:signaling receptor complex | C:vesicle
HES2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9Y543,Transcription factor HES-2,Transcriptional repressor of genes that require a bHLH protein for their transcription,P:anterior/posterior pattern specification | P:negative regulation of transcription by RNA polymerase II | P:regulation of neurogenesis,"F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:DNA-binding transcription repressor activity, RNA polymerase II-specific | F:protein dimerization activity | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding | F:sequence-specific double-stranded DNA binding",C:chromatin | C:nucleus
HTATIP2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BUP3,Protein HTATIP2,Represses translation by preventing reactivation of elongation factor eEF1A (By similarity). May also inhibit nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors (PubMed:15282309). Has additionally been proposed to act as a redox sensor involved in cellular oxidative stress surveillance (PubMed:18519672),P:negative regulation of cytoplasmic translation | P:positive regulation of programmed cell death | P:positive regulation of transcription by RNA polymerase II | P:protein autophosphorylation,F:protein serine/threonine kinase activity,C:cytoplasm | C:cytosol | C:mitochondrion
HTN1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P15515,Histatin-1,"Histatins (Hsts) are cationic and histidine-rich secreted peptides mainly synthesized by saliva glands of humans and higher primates (PubMed:3286634, PubMed:3944083). Hsts are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). Hsts can be divided into two major groups according to their biological functions: antimicrobial Hsts (e.g. Hst 5/HTN3) and cell-activating Hsts (e.g. Hst 1/HTN1 and Hst 2/HTN1) (PubMed:32225006). Hst 1/HTN1 and Hst 2/HTN1 act in different cell types (epithelium, fibroblasts and endothelium) in oral and non-oral mucosa (PubMed:25903106, PubMed:28542418, PubMed:28751526, PubMed:32225006) | Hst 1 functions pri","P:antimicrobial humoral immune response mediated by antimicrobial peptide | P:defense response to bacterium | P:killing of cells of another organism | P:positive regulation of cell-cell adhesion | P:positive regulation of metabolic process | P:positive regulation of substrate adhesion-dependent cell spreading | P:positive regulation of vascular wound healing | P:positive regulation of wound healing | P:positive regulation of wound healing, spreading of epidermal cells",F:molecular adaptor activity,C:endoplasmic reticulum | C:endoplasmic reticulum membrane | C:extracellular region | C:mitochondrion
IGSF11,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q5DX21,Immunoglobulin superfamily member 11,Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth,P:cell-cell adhesion | P:homophilic cell-cell adhesion | P:positive regulation of long-term synaptic potentiation,F:ionotropic glutamate receptor binding,C:cell-cell junction | C:plasma membrane
KCNAB2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q13303,Voltage-gated potassium channel subunit beta-2,"Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:11825900, PubMed:7649300). The beta-2/KCNAB2 cytoplasmic subunit promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:11825900, PubMed:7649300). Promotes the inactivation of Kv1.4/KCNA4 and Kv1.5/KCNA5 alpha subunit-containing channels (PubMed:11825900, PubMed:7649300). Displays nicotinamide adenine dinucleotide phosphate (NADPH)-dependent aldoketoreductase activity by catalyzing the NADPH-dependent reduction of a wide range of aldehyde and ketone sub",P:neuromuscular process | P:regulation of potassium ion transmembrane transport | P:regulation of protein localization to cell surface,F:alcohol dehydrogenase (NADP+) activity | F:methylglyoxal reductase (NADPH) (acetol producing) activity | F:potassium channel regulator activity | F:transmembrane transporter binding | F:voltage-gated potassium channel activity,C:axon terminus | C:cytoplasm | C:cytoplasmic side of plasma membrane | C:cytoskeleton | C:cytosol | C:juxtaparanode region of axon | C:membrane | C:pinceau fiber | C:plasma membrane | C:specific granule membrane | C:tertiary granule membrane | C:voltage-gated potassium channel complex
KLF10,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q13118,Krueppel-like factor 10,"Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation",P:cell-cell signaling | P:cellular response to starvation | P:circadian rhythm | P:negative regulation of cell population proliferation | P:negative regulation of DNA-templated transcription | P:negative regulation of transcription by RNA polymerase II | P:positive regulation of transcription by RNA polymerase II | P:regulation of circadian rhythm | P:regulation of transcription by RNA polymerase II,"F:core promoter sequence-specific DNA binding | F:DNA-binding transcription activator activity, RNA polymerase II-specific | F:DNA-binding transcription factor activity | F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding | F:sequence-specific double-stranded DNA binding",C:chromatin | C:nucleus
KRAS,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P01116,GTPase KRas,"Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:22711838, PubMed:23698361). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)",P:canonical NF-kappaB signal transduction | P:cardiac muscle cell proliferation | P:cytokine-mediated signaling pathway | P:female pregnancy | P:liver development | P:MAPK cascade | P:myoblast proliferation | P:negative regulation of programmed cell death | P:positive regulation of cell population proliferation | P:positive regulation of cellular senescence | P:positive regulation of gene expression | P:positive regulation of MAPK cascade | P:positive regulation of Ras protein signal transduction | P:positive regulation of TOR signaling | P:Ras protein signal transduction | P:regulation of cell population proliferation | P:response to glucocorticoid | P:response to gravity | P:response to is,F:G protein activity | F:GDP binding | F:GMP binding | F:GTP binding | F:GTPase activity | F:identical protein binding | F:LRR domain binding | F:protein-containing complex binding,C:cytoplasm | C:cytoplasmic side of plasma membrane | C:cytosol | C:endomembrane system | C:endoplasmic reticulum membrane | C:focal adhesion | C:Golgi membrane | C:GTPase complex | C:membrane | C:mitochondrial outer membrane | C:plasma membrane | C:protein phosphatase type 1 complex | C:serine/threonine protein kinase complex
KRT72,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q14CN4,"Keratin, type II cytoskeletal 72",Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable),P:intermediate filament organization | P:keratinization,F:structural constituent of skin epidermis,C:cytosol | C:extracellular exosome | C:keratin filament
KRTAP9-8,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BYQ0,Keratin-associated protein 9-8,"In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins",,,C:cytosol
L2HGDH,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9H9P8,"L-2-hydroxyglutarate dehydrogenase, mitochondrial","Catalyzes the oxidation of L-2-hydroxyglutarate to 2-oxoglutarate in the mitochondrial matrix (PubMed:15548604, PubMed:16005139, PubMed:40870031). L-2-hydroxyglutarate is a physiological metabolite produced in presence of an elevated NADH/NAD(+) ratio in the mitochondrial matrix: it competes with 2-oxoglutarate and inhibits the activity of some 2-oxoglutarate-dependent dioxygenases, such as KDM4A, KDM4B and KDM4C histone demethylases, thereby acting as an epigenetic regulator (PubMed:41842973). Acts as a negative regulator of macrophage activation by mediating degradation of L-2-hydroxyglutarate, thereby decreasing chromatin accessibility (By similarity). Also regulates inflammation in macro",P:2-oxoglutarate metabolic process | P:tricarboxylic acid cycle,F:(S)-2-hydroxyglutarate dehydrogenase activity,C:membrane | C:mitochondrial inner membrane | C:mitochondrion
LAMTOR5,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O43504,Ragulator complex protein LAMTOR5,"As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:22980980, PubMed:29158492, PubMed:30181260). Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane (PubMed:22053050, PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29158492, PubMed:",P:cellular response to amino acid stimulus | P:cellular response to nutrient levels | P:negative regulation of apoptotic process | P:positive regulation of canonical NF-kappaB signal transduction | P:positive regulation of gene expression | P:positive regulation of interleukin-8 production | P:positive regulation of protein localization to nucleus | P:positive regulation of TOR signaling | P:positive regulation of TORC1 signaling | P:protein localization to lysosome | P:regulation of cell size | P:response to virus | P:TORC1 signaling | P:viral genome replication,,C:cytosol | C:FNIP-folliculin RagC/D GAP | C:late endosome membrane | C:lysosomal membrane | C:lysosome | C:protein-containing complex | C:Ragulator complex
LHFPL6,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9Y693,LHFPL tetraspan subfamily member 6 protein,,,,C:membrane
MAOB,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P27338,Amine oxidase [flavin-containing] B,"Catalyzes the oxidative deamination of primary and some secondary amines such as neurotransmitters, and exogenous amines including the tertiary amine, neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), with concomitant reduction of oxygen to hydrogen peroxide and participates in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues (PubMed:11049757, PubMed:11134050, PubMed:20493079, PubMed:8316221, PubMed:8665924). Preferentially degrades benzylamine and phenylethylamine (PubMed:11049757, PubMed:11134050, PubMed:20493079, PubMed:8316221, PubMed:8665924)",P:dopamine catabolic process | P:hydrogen peroxide biosynthetic process | P:phenylethylamine catabolic process | P:serotonin metabolic process | P:substantia nigra development,F:electron transfer activity | F:monoamine oxidase activity | F:primary methylamine oxidase activity,C:mitochondrial envelope | C:mitochondrial outer membrane | C:mitochondrion
MINDY2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8NBR6,Ubiquitin carboxyl-terminal hydrolase MINDY-2,"Deubiquitinase that can remove 'Lys-48'- and 'Lys-63'-linked conjugated ubiquitin from proteins (PubMed:27292798). Acts as an inhibitor of TNF-induced RIPK1-mediated cell death by mediating deubiquitination of 'ys-612' of RIPK1, thereby impairing the interaction between RIPK1 and TNFR1 (TNFR1A or TNFR1B), and formation of TNF-R1 signaling complex (By similarity). Binds to polyubiquitin chains of different linkage types, including 'Lys-6', 'Lys-11', 'Lys-29', 'Lys-33', 'Lys-48' and 'Lys-63' (PubMed:28082312)",,F:cysteine-type carboxypeptidase activity | F:cysteine-type deubiquitinase activity | F:K11-linked polyubiquitin modification-dependent protein binding | F:K48-linked deubiquitinase activity | F:K48-linked polyubiquitin modification-dependent protein binding | F:K6-linked polyubiquitin modification-dependent protein binding | F:K63-linked polyubiquitin modification-dependent protein binding,C:nucleoplasm
MKX,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8IYA7,Homeobox protein Mohawk,May act as a morphogenetic regulator of cell adhesion,P:cell development | P:muscle organ development | P:regulation of transcription by RNA polymerase II,"F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding",C:chromatin | C:nucleus
MT1HL1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P0DM35,Metallothionein 1H-like protein 1,Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids,P:cellular response to cadmium ion | P:cellular response to copper ion | P:cellular response to zinc ion | P:detoxification of copper ion | P:intracellular zinc ion homeostasis,F:metal ion binding,C:cytoplasm | C:nucleus
MTARC1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q5VT66,Mitochondrial amidoxime-reducing component 1,"Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:19053771, PubMed:21029045, PubMed:30397129). As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability (PubMed:19053771). May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis (PubMed:21029045). Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the",P:cellular detoxification of nitrogen compound | P:detoxification of nitrogen compound | P:nitrate metabolic process | P:nitric oxide biosynthetic process,"F:molybdenum ion binding | F:molybdopterin cofactor binding | F:nitrate reductase activity | F:nitrite reductase activity | F:oxidoreductase activity, acting on other nitrogenous compounds as donors | F:pyridoxal phosphate binding",C:mitochondrial outer membrane | C:mitochondrion | C:nitric-oxide synthase complex
NEFH,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P12036,Neurofilament heavy polypeptide,"Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)",P:axon development | P:axonal transport of mitochondrion | P:axonogenesis | P:intermediate filament bundle assembly | P:neurofilament bundle assembly | P:neuron projection organization,F:dynein complex binding | F:kinesin binding | F:microtubule binding | F:protein kinase binding | F:protein-macromolecule adaptor activity | F:structural constituent of cytoskeleton | F:structural constituent of postsynaptic intermediate filament cytoskeleton,C:axon | C:axon cytoplasm | C:cytoplasm | C:cytoskeleton | C:neurofibrillary tangle | C:neurofilament
NEUROG3,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9Y4Z2,Neurogenin-3,"Is a transcriptional regulator involved in the control of enteroendocrine cell differentiation (PubMed:21378176). Together with NKX2-2, initiates transcriptional activation of NEUROD1 (PubMed:16855267, PubMed:21378176). Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity)",P:axon development | P:central nervous system development | P:enteroendocrine cell differentiation | P:forebrain development | P:hindbrain development | P:negative regulation of transcription by RNA polymerase II | P:nervous system development | P:peripheral nervous system development | P:positive regulation of DNA-templated transcription | P:positive regulation of neuron differentiation | P:positive regulation of transcription by RNA polymerase II | P:sensory organ development | P:spinal cord development | P:transdifferentiation,"F:chromatin DNA binding | F:DNA-binding transcription activator activity, RNA polymerase II-specific | F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:DNA-binding transcription repressor activity, RNA polymerase II-specific | F:E-box binding | F:protein dimerization activity | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding",C:chromatin | C:nucleus
NRAS,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P01111,GTPase NRas,Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:30712867). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:30712867). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300),P:MAPK cascade | P:positive regulation of cell population proliferation | P:positive regulation of endothelial cell proliferation | P:positive regulation of Ras protein signal transduction | P:Ras protein signal transduction,F:G protein activity | F:GTP binding | F:GTPase activity | F:protein-containing complex binding,C:cytosol | C:endoplasmic reticulum membrane | C:extracellular exosome | C:Golgi apparatus | C:Golgi membrane | C:membrane | C:plasma membrane | C:tertiary granule membrane
NYNRIN,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9P2P1,Protein NYNRIN,,P:3'-UTR-mediated mRNA destabilization | P:DNA integration | P:DNA-templated DNA replication,F:DNA-directed DNA polymerase activity | F:mRNA binding | F:RNA endonuclease activity | F:RNA-DNA hybrid ribonuclease activity,C:chromosome | C:cytoplasmic ribonucleoprotein granule | C:membrane | C:nucleus
OR1E1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P30953,Olfactory receptor 1E1,Odorant receptor,P:sensory perception of smell | P:signal transduction,F:G protein-coupled receptor activity | F:olfactory receptor activity,C:plasma membrane
OR2T29,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8NH02,Olfactory receptor 2T29,Odorant receptor,P:detection of chemical stimulus involved in sensory perception of smell,F:G protein-coupled receptor activity | F:olfactory receptor activity,C:plasma membrane
OR4C13,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8NGP0,Olfactory receptor 4C13,Odorant receptor,,F:G protein-coupled receptor activity | F:olfactory receptor activity,C:plasma membrane
OR6S1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8NH40,Olfactory receptor 6S1,Odorant receptor,,F:G protein-coupled receptor activity | F:olfactory receptor activity,C:plasma membrane
OR8B2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q96RD0,Olfactory receptor 8B2,Odorant receptor,P:G protein-coupled receptor signaling pathway | P:sensory perception of smell,F:G protein-coupled receptor activity | F:olfactory receptor activity,C:plasma membrane
PACSIN1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9BY11,Protein kinase C and casein kinase substrate in neurons protein 1,"Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cy",P:actin filament organization | P:cytoskeleton organization | P:neuron projection morphogenesis | P:plasma membrane tubulation | P:positive regulation of dendrite development | P:protein localization to membrane | P:protein localization to plasma membrane | P:regulation of endocytosis | P:synaptic vesicle endocytosis,F:identical protein binding | F:phospholipid binding,C:axon terminus | C:cytoplasm | C:cytoplasmic vesicle membrane | C:cytosol | C:endosome | C:perinuclear region of cytoplasm | C:plasma membrane | C:ruffle membrane | C:synapse
PDLIM1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O00151,PDZ and LIM domain protein 1,"Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity)",P:actin cytoskeleton organization | P:establishment or maintenance of actin cytoskeleton polarity | P:fibroblast migration | P:heart development | P:maintenance of cell polarity | P:muscle structure development | P:response to hypoxia | P:response to oxidative stress | P:stress fiber assembly,F:actin binding | F:cadherin binding involved in cell-cell adhesion | F:muscle alpha-actinin binding,C:actin cytoskeleton | C:adherens junction | C:cytoplasm | C:cytoskeleton | C:filamentous actin | C:focal adhesion | C:stress fiber | C:Z disc
PIK3CA,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P42336,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform","Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activ",P:actin cytoskeleton organization | P:anoikis | P:cardiac muscle cell contraction | P:cardiac muscle contraction | P:cell migration | P:cellular response to hydrostatic pressure | P:cellular response to insulin stimulus | P:endothelial cell migration | P:epidermal growth factor receptor signaling pathway | P:insulin receptor signaling pathway | P:interleukin-8-mediated signaling pathway | P:negative regulation of actin filament depolymerization | P:negative regulation of anoikis | P:negative regulation of gene expression | P:negative regulation of macroautophagy | P:neutrophil chemotaxis | P:phosphatidylinositol 3-kinase/protein kinase B signal transduction | P:phosphatidylinositol phosphate,"F:1-phosphatidylinositol-3-kinase activity | F:1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | F:1-phosphatidylinositol-4-phosphate 3-kinase activity | F:protein kinase activator activity | F:protein serine kinase activity | F:protein serine/threonine kinase activity","C:cytoplasm | C:cytosol | C:intercalated disc | C:perinuclear region of cytoplasm | C:phosphatidylinositol 3-kinase complex | C:phosphatidylinositol 3-kinase complex, class IA | C:phosphatidylinositol 3-kinase complex, class IB | C:plasma membrane"
PLA2G4D,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q86XP0,Cytosolic phospholipase A2 delta,Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (PubMed:14709560). Has a preference for linoleic acid at the sn-2 position (PubMed:14709560),P:fatty acid metabolic process | P:glycerophospholipid catabolic process | P:phosphatidylglycerol acyl-chain remodeling | P:phosphatidylinositol acyl-chain remodeling,F:A2-type glycerophospholipase activity | F:calcium ion binding | F:calcium-dependent phospholipid binding | F:glycerophospholipid phospholipase A1 activity,C:cytosol | C:membrane
PLEKHJ1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9NW61,Pleckstrin homology domain-containing family J member 1,,P:vesicle-mediated transport,F:ceramide transfer activity,
POTEM,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,A6NI47,Putative POTE ankyrin domain family member M,,,,
PPIAL4G,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P0DN37,Peptidyl-prolyl cis-trans isomerase A-like 4G,PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity),P:protein folding,F:peptidyl-prolyl cis-trans isomerase activity,C:cytoplasm | C:nucleus
PPIB,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P23284,Peptidyl-prolyl cis-trans isomerase B,Peptidyl-prolyl cis-trans isomerase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding,P:bone development | P:host-mediated activation of viral genome replication | P:host-mediated activation of viral process | P:neutrophil chemotaxis | P:positive regulation of multicellular organism growth | P:protein folding | P:protein stabilization,F:peptidyl-prolyl cis-trans isomerase activity | F:RNA binding | F:RNA polymerase binding,C:cytosol | C:endoplasmic reticulum | C:endoplasmic reticulum chaperone complex | C:endoplasmic reticulum lumen | C:extracellular exosome | C:focal adhesion | C:melanosome | C:membrane | C:nucleus | C:perinuclear region of cytoplasm | C:protein-containing complex | C:smooth endoplasmic reticulum
PRAMEF11,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O60813,PRAME family member 11,,P:negative regulation of apoptotic process | P:negative regulation of cell differentiation | P:negative regulation of DNA-templated transcription | P:positive regulation of cell population proliferation | P:proteasome-mediated ubiquitin-dependent protein catabolic process,F:ubiquitin-like ligase-substrate adaptor activity,C:Cul2-RING ubiquitin ligase complex | C:cytoplasm
PRAMEF12,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,O95522,PRAME family member 12,,P:negative regulation of apoptotic process | P:negative regulation of cell differentiation | P:negative regulation of DNA-templated transcription | P:positive regulation of cell population proliferation | P:proteasome-mediated ubiquitin-dependent protein catabolic process,F:ubiquitin-like ligase-substrate adaptor activity,C:Cul2-RING ubiquitin ligase complex | C:cytoplasm
PRIM1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P49642,DNA primase small subunit,"Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis (PubMed:17893144, PubMed:24043831, PubMed:25550159, PubMed:26975377, PubMed:31479243, PubMed:33060134, PubMed:9268648, PubMed:9705292). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By simila","P:DNA replication initiation | P:DNA replication, synthesis of primer",F:DNA-directed RNA polymerase activity | F:magnesium ion binding | F:ribonucleotide binding | F:zinc ion binding,C:alpha DNA polymerase:primase complex | C:membrane | C:nucleoplasm
PRR35,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P0CG20,Proline-rich protein 35,,,,
RAET1E,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8TD07,Retinoic acid early transcript 1E,"Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity","P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent | P:antigen processing and presentation of endogenous peptide antigen via MHC class Ib | P:natural killer cell mediated cytotoxicity | P:positive regulation of natural killer cell mediated cytotoxicity | P:positive regulation of T cell mediated cytotoxicity",F:natural killer cell lectin-like receptor binding | F:receptor ligand activity,C:cytosol | C:external side of plasma membrane | C:extracellular region | C:focal adhesion | C:membrane | C:plasma membrane
RNASEK,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q6P5S7,Ribonuclease kappa,"Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds and hydrolyzes UpU bonds at a lower rate (PubMed:17881363). Degrades circular RNAs (circRNAs), preferentially over their cognate linear transcripts, and limits their age-associated accumulation (PubMed:41742417). Acts synergistically with the lysosome in circRNA turnover, degrading circRNAs outside the organelle while lysosome-resident RNASE1 degrades circRNAs within the lysosomal lumen (PubMed:41926286). Contributes to the decrease in global circRNA levels induced by heat shock and endoplasmic reticulum stress and is required for proper induction of the stress response (PubMed:41926286). Together with the chapero",P:endosomal lumen acidification | P:Golgi lumen acidification | P:intracellular pH reduction | P:lysosomal lumen acidification | P:proton transmembrane transport | P:receptor-mediated endocytosis | P:receptor-mediated endocytosis of virus by host cell | P:vacuolar acidification,F:RNA endonuclease activity,"C:clathrin-coated vesicle membrane | C:endomembrane system | C:endosome membrane | C:Golgi membrane | C:lysosomal membrane | C:membrane | C:plasma membrane | C:proton-transporting V-type ATPase complex | C:vacuolar proton-transporting V-type ATPase, V0 domain"
RPL13A,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P40429,Large ribosomal subunit protein uL13,"Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions (PubMed:14567916, PubMed:17218275, PubMed:23636399, PubMed:32669547). Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes (PubMed:23071094). Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation (PubMed:23071094). In the ",P:cellular response to type II interferon | P:cytoplasmic translation | P:negative regulation of formation of translation preinitiation complex | P:negative regulation of myoblast fusion | P:negative regulation of translation | P:spermatogenesis | P:striated muscle contraction | P:translation,F:mRNA binding | F:RNA binding | F:structural constituent of ribosome,C:cytoplasm | C:cytosol | C:cytosolic large ribosomal subunit | C:cytosolic ribosome | C:focal adhesion | C:GAIT complex | C:large ribosomal subunit | C:membrane | C:nucleolus | C:nucleus | C:ribonucleoprotein complex | C:ribosome
SLAIN2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9P270,SLAIN motif-containing protein 2,Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase,P:cytoplasmic microtubule organization | P:microtubule nucleation | P:positive regulation of microtubule polymerization,,C:centrosome | C:ciliary basal body | C:ciliary tip | C:cytosol | C:microtubule cytoskeleton
SLC25A22,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q9H936,Mitochondrial glutamate carrier 1,Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a role in the control of glucose-stimulated insulin secretion (By similarity),P:aspartate transmembrane transport | P:L-glutamate transmembrane transport | P:malate-aspartate shuttle | P:neurotransmitter transport | P:regulation of insulin secretion,F:amino acid:proton symporter activity | F:L-aspartate transmembrane transporter activity | F:L-glutamate transmembrane transporter activity,C:mitochondrial inner membrane | C:mitochondrion
SPINK2,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P20155,Serine protease inhibitor Kazal-type 2,"As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin",P:acrosome assembly | P:spermatid development,F:endopeptidase inhibitor activity | F:serine-type endopeptidase inhibitor activity,C:acrosomal vesicle | C:extracellular region
TLCD1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q96CP7,TLC domain-containing protein 1,Regulates the composition and fluidity of the plasma membrane (PubMed:30509349). Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity (PubMed:30509349). Does not appear to have any effect on LCPUFA synthesis (PubMed:30509349),P:membrane assembly | P:phospholipid homeostasis | P:plasma membrane organization | P:regulation of membrane lipid distribution,,C:plasma membrane
TMEM219,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q86XT9,Insulin-like growth factor-binding protein 3 receptor,"Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding",P:apoptotic process | P:ERK1 and ERK2 cascade | P:negative regulation of inflammatory response | P:positive regulation of ERK1 and ERK2 cascade | P:regulation of transforming growth factor beta1 production | P:transforming growth factor beta1 production,,C:plasma membrane | C:signaling receptor complex
TNFSF8,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P32971,Tumor necrosis factor ligand superfamily member 8,Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells,"P:CD8-positive, alpha-beta T cell differentiation | P:cell-cell signaling | P:immune response | P:regulation of T cell proliferation",F:signaling receptor binding | F:tumor necrosis factor receptor binding,C:plasma membrane
TP53,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,P04637,Cellular tumor antigen p53,"Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17189187, PubMed:17317671, PubMed:17349958","P:autophagy | P:bone marrow development | P:cellular response to actinomycin D | P:cellular response to gamma radiation | P:cellular response to glucose starvation | P:cellular response to hypoxia | P:cellular response to ionizing radiation | P:cellular response to UV | P:cellular response to xenobiotic stimulus | P:cellular senescence | P:circadian behavior | P:determination of adult lifespan | P:DNA damage response | P:DNA damage response, signal transduction by p53 class mediator | P:entrainment of circadian clock by photoperiod | P:ER overload response | P:hematopoietic progenitor cell differentiation | P:hematopoietic stem cell differentiation | P:intracellular protein localization | P:","F:14-3-3 protein binding | F:ATP-dependent DNA/DNA annealing activity | F:chromatin binding | F:cis-regulatory region sequence-specific DNA binding | F:copper ion binding | F:core promoter sequence-specific DNA binding | F:disordered domain specific binding | F:DNA binding | F:DNA-binding transcription activator activity, RNA polymerase II-specific | F:DNA-binding transcription factor activity | F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:DNA-binding transcription repressor activity, RNA polymerase II-specific | F:enzyme binding | F:general transcription initiation factor binding | F:histone deacetylase binding | F:identical protein binding | F:MDM2/MDM4 famil",C:centrosome | C:chromatin | C:cytoplasm | C:cytosol | C:endoplasmic reticulum | C:mitochondrial matrix | C:mitochondrion | C:nuclear matrix | C:nucleolus | C:nucleoplasm | C:nucleus | C:PML body | C:protein-containing complex | C:transcription regulator complex | C:transcription repressor complex
TP53BP1,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q12888,TP53-binding protein 1,"Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:17190600, PubMed:21144835, PubMed:22553214, PubMed:23333306, PubMed:27153538, PubMed:28241136, PubMed:31135337, PubMed:37696958). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23333306, PubMed:23727112, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation ",P:DNA damage checkpoint signaling | P:DNA damage response | P:double-strand break repair via classical nonhomologous end joining | P:double-strand break repair via nonhomologous end joining | P:negative regulation of double-strand break repair via homologous recombination | P:positive regulation of DNA-templated transcription | P:positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator | P:positive regulation of isotype switching | P:positive regulation of transcription by RNA polymerase II | P:protein homooligomerization | P:protein localization to site of double-strand break,F:histone H4K20me methyltransferase activity | F:histone H4K20me2 reader activity | F:histone reader activity | F:p53 binding | F:RNA polymerase II-specific DNA-binding transcription factor binding | F:transcription coactivator activity | F:transcription coregulator activity | F:ubiquitin-modified histone reader activity,C:chromosome | C:cytoplasm | C:nuclear body | C:nucleoplasm | C:nucleus | C:site of double-strand break
ZDHHC12,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q96GR4,Palmitoyltransferase ZDHHC12,"Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:36586411). Has a palmitoyltransferase activity toward gephyrin/GPHN, regulating its clustering at synapses and its function in gamma-aminobutyric acid receptor clustering (By similarity). Thereby, indirectly regulates GABAergic synaptic transmission (By similarity). Negatively regulates NLRP3-driven inflammation. Catalyzes NLRP3 palmitoylation, leading to its degradation via the chaperone-mediated autophagy (CMA) process (PubMed:36586411, PubMed:39225180)","P:gephyrin clustering involved in postsynaptic density assembly | P:negative regulation of NLRP3 inflammasome complex assembly | P:peptidyl-L-cysteine S-palmitoylation | P:positive regulation of synaptic transmission, GABAergic | P:protein targeting to membrane",F:palmitoyltransferase activity | F:protein-cysteine S-palmitoyltransferase activity,C:dendritic spine | C:endoplasmic reticulum | C:endoplasmic reticulum membrane | C:Golgi apparatus | C:Golgi membrane
ZIC4,ANNOTATED_NOT_FUNCTIONAL_VALIDATION,Q8N9L1,Zinc finger protein ZIC 4,Binds to DNA,P:central nervous system development | P:regulation of transcription by RNA polymerase II,"F:DNA binding | F:DNA-binding transcription factor activity, RNA polymerase II-specific | F:RNA polymerase II cis-regulatory region sequence-specific DNA binding | F:sequence-specific double-stranded DNA binding",C:nucleus