[
{
"uniprot_canonical_ac": "P30990-1",
"uniprot_id": [
{
"id": "NEUT_HUMAN",
"url": "https://www.uniprot.org/uniprot/P30990",
"type": "external"
}
],
"mass": 19795.0,
"length": 170,
"protein_name": "Neurotensin/neuromedin N",
"gene_name": "NTS",
"organism": "Human",
"refseq_name": "neurotensin/neuromedin N preproprotein",
"refseq_ac": [
{
"id": "NP_006174",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006174",
"type": "external"
}
],
"gene_names_uniprotkb": "NTS",
"gene_names_refseq": "NMN-125; NN; NT/N; NTS1; NTS; NT",
"protein_names_uniprotkb": "Neurotensin/neuromedin N; NmN-125",
"protein_names_refseq": "neurotensin/neuromedin N preproprotein; neurotensin/neuromedin N; pro-neurotensin/neuromedin",
"tax_id": 9606,
"disease": "nicotine dependence (Disease Ontology:DOID:0050742); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); sciatic neuropathy (Disease Ontology:DOID:11446); depressive disorder (Disease Ontology:DOID:1596)",
"pathway": " (hsa:4922); (R-HSA-375276); (R-HSA-416476)",
"pathway_count": 3,
"publication_count": 132,
"publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11294867;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;1436492;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;19122660;23140271;23446738;23690594;24906252;2649896;27496565;2841328;30410026;3086311;3202875;32265295;3366244;34357683;35051231;35251023;3525564;36916883;37047432;38423808;38522506;3856870;6208535;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594",
"class_list": "",
"function": "Expression of Neurotensin and Its Receptors Along the Intestinal Tract in Type 2 Diabetes Patients and Healthy Controls., [RefSeq, PubMed]; Neurotensin Gene rs2234762 C>G Variant Associates with Reduced Circulating Pro-NT Levels and Predicts Lower Insulin Resistance in Overweight/Obese Children. Publication Status: Online-Only, [RefSeq, PubMed]; Neurotensin accelerates atherosclerosis and increases circulating levels of short-chain and saturated triglycerides., [RefSeq, PubMed]; Neurotensin contributes to cholestatic liver disease potentially modulating matrix metalloprotease-7., [RefSeq, PubMed]; Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 0,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 1,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 4,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0071855 neuropeptide receptor binding;GO:0048018 receptor ligand activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0043679 axon terminus;GO:0030133 transport vesicle",
"go_biological_process": "GO:0007165 signal transduction;GO:0007218 neuropeptide signaling pathway;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction",
"synthesized_glycan_count": 0,
"hit_score": 13.3,
"record_id": "P30990-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O15239-1",
"uniprot_id": [
{
"id": "NDUA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15239",
"type": "external"
}
],
"mass": 8072.0,
"length": 70,
"protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1",
"gene_name": "NDUFA1",
"organism": "Human",
"refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1",
"refseq_ac": [
{
"id": "NP_004532",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004532",
"type": "external"
}
],
"gene_names_uniprotkb": "NDUFA1",
"gene_names_refseq": "CI-MWFE; MC1DN12; MWFE; NDUFA1; ZNF183",
"protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; CI-MWFE; Complex I-MWFE; NADH-ubiquinone oxidoreductase MWFE subunit",
"protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; NADH-ubiquinone oxidoreductase MWFE subunit; NADH:ubiquinone oxidoreductase (complex 1); complex I MWFE subunit; type I dehydrogenase",
"tax_id": 9606,
"disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); nuclear type mitochondrial complex I deficiency 12 (Disease Ontology:DOID:0112099)",
"pathway": " (hsa:4694); (R-HSA-611105); (R-HSA-6799198)",
"pathway_count": 3,
"publication_count": 137,
"publication_id_list": "10327278;10513815;10958351;11120772;11220739;11695836;11875071;12042320;12231006;12611891;12837546;1327877;14741580;15104674;15250827;16230336;16959974;17033964;17262856;17308301;17936786;186667;19752196;20112406;20406883;20552642;20858599;21924235;22009320;22424782;22645359;23150584;23270816;23553477;23564345;23747254;239860;24191001;24366607;24715725;25418920;25469497;25564869;25576301;25576336;25645385;25678554;25880248;26154972;26811146;26992070;27499296;27600516;27626371;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28860189;28904123;29242379;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31222486;31530632;31666358;31844290;31866046;32157095;32161166;32265295;32320651;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33879611;33882309;33912179;33936100;33968037;34087483;34171305;34357683;34509645;35051231;35131137;35251023;35318648;35333655;35561310;35580925;35614220;36010968;36215666;36241641;36284347;37938771;38199007;4288886;8938439;8981922;9224902;9234479;9571201;9878551",
"class_list": "",
"function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed]; NDUFA1 p.Gly32Arg variant in early-onset dementia., [RefSeq, PubMed]; The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the 'hydrophobic protein' (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 1,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 1,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 2,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045271 respiratory chain complex I",
"go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration",
"synthesized_glycan_count": 0,
"hit_score": 14.0,
"record_id": "O15239-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P13591-2",
"uniprot_id": [
{
"id": "NCAM1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P13591",
"type": "external"
}
],
"mass": 94574.0,
"length": 858,
"protein_name": "Neural cell adhesion molecule 1",
"gene_name": "NCAM1",
"organism": "Human",
"refseq_name": "neural cell adhesion molecule 1 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_000606",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606",
"type": "external"
}
],
"gene_names_uniprotkb": "NCAM1; NCAM",
"gene_names_refseq": "CD56; MSK39; NCAM1; NCAM",
"protein_names_uniprotkb": "Neural cell adhesion molecule 1; N-CAM-1; NCAM-1",
"protein_names_refseq": "antigen recognized by monoclonal antibody 5.1H11; neural cell adhesion molecule 1 isoform 1 precursor; neural cell adhesion molecule, NCAM",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); ovarian serous carcinoma (Disease Ontology:DOID:0050933); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); pancreatic cancer (Disease Ontology:DOID:1793); morphine dependence (Disease Ontology:DOID:2560); brain glioblastoma multiforme (Disease Ontology:DOID:3073); bipolar disorder (Disease Ontology:DOID:3312); middle cerebral artery infarction (Disease Ontology:DOID:3525); insulinoma (Disease Ontology:DOID:3892); cholangiocarcinoma (Disease Ontology:DOID:4947); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); adenoma (Disease Ontology:DOID:657); type 1 diabetes mellitus (Disease Ontology:DOID:9744); drug dependence (Disease Ontology:DOID:9974)",
"pathway": " (hsa:4684); (R-HSA-3000178); (R-HSA-375165); (R-HSA-419037); (R-HSA-445144); (R-HSA-5673001); (R-HSA-877300)",
"pathway_count": 7,
"publication_count": 201,
"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10067896;10339611;10508167;10611478;10673326;10818153;10869344;10986460;11027663;11084047;11090077;11136978;11259413;11313946;11546808;11702783;11972023;12032311;12040185;12094235;12121613;12225811;12438563;12446674;12456642;12700044;12765789;12915721;1339414;1376317;1396683;14506247;14586410;14707138;14715956;14718570;14722222;15075323;1508672;15143187;15296743;15322115;15356145;15388922;1544908;1545823;15530433;15546878;15597056;16237089;16267048;16293224;16335952;16467876;16493581;16627759;16684964;1710251;17125875;1716764;17253643;17588949;17998941;18059411;18222703;18362138;18510355;18555990;18591661;18775330;1898771;19279408;19920141;20049711;20130243;20304997;20363976;20478380;2059554;21102635;21372320;21642437;21779497;21779505;21789315;21993244;22134916;22177953;22569528;22589270;22750304;2295682;23061660;23103841;23303910;23443682;23575685;23584533;2364322;23954936;2412224;2420006;2430969;24417533;24897931;24937142;25219551;25576301;25781681;26085527;27036939;2809592;28778966;28810663;2887295;29557506;29632711;29671580;29741879;31135801;31154438;31324691;31844290;31848261;3203385;3253057;32753727;32938616;33239784;33592498;35051231;35580925;37074911;37374349;37973964;37982465;38213180;38507235;40914422;6148751;6193777;6439184;7499434;7510216;7514165;7527058;7530745;7542669;7559467;7615558;7617032;7657660;7673114;7685013;7690989;7693733;7796299;7809086;7852349;7935463;7972015;7997267;8002934;8052307;8075973;8156998;8176225;8262246;8388392;8394845;8440685;8483949;8493579;8509458;8530158;8550631;8592152;8631301;8665852;8710374;8798654;8939933;8943283;9111318;9143706;9252349;9294172;9341124;9346959;9396761;9398268;9604935;9685393;9687510;9696812;9774483;9927426;9949188",
"class_list": "glycogene",
"function": "(Microbial infection) Acts as a receptor for Zika virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for rabies virus., [UniProtKB, PubMed]; A Comparative Study of CD56 and Smooth Muscle Actin Expression in Basal and Squamous Cell Carcinomas., [RefSeq, PubMed]; CD56/NCAM mediates cell migration of human NK cells by promoting integrin-mediated adhesion turnover., [RefSeq, PubMed]; Expression and Clinical Significance of CD30 and CD56 in Lymphoblastic Lymphoma: A Retrospective Analysis on Paraffin-Embedded Tissues by Immunohistochemistry., [RefSeq, PubMed]; Investigation of CD56, ADAM17 and FGF21 Expressions in the Placentas of Preeclampsia Cases. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma-derived extracellular vesicle surface markers CD45, CD326 and CD56 correlate with the stage of osteoarthritis: a primary study of a novel and promising diagnostic tool of the disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020]., [RefSeq]; This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc., [UniProtKB]",
"predicted_glycosites": 3,
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"reported_mutagensis": 3,
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"reported_snv": 832,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 27,
"disease_count": 23,
"glyco_site_count": 8,
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"secondary_ac_list": "A8K8T8;P13592;P13593;Q05C58;Q15829;Q16180;Q16209;Q59FL7;Q86X47;Q96CJ3",
"ec_number_list": [],
"go_molecular_function": "GO:0001618 virus receptor activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface",
"go_biological_process": "GO:0007155 cell adhesion;GO:0001837 epithelial to mesenchymal transition;GO:0071679 commissural neuron axon guidance;GO:2001260 regulation of semaphorin-plexin signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 23.5,
"record_id": "P13591-2",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P16519-1",
"uniprot_id": [
{
"id": "NEC2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P16519",
"type": "external"
}
],
"mass": 70565.0,
"length": 638,
"protein_name": "Neuroendocrine convertase 2",
"gene_name": "PCSK2",
"organism": "Human",
"refseq_name": "neuroendocrine convertase 2 isoform 3",
"refseq_ac": [
{
"id": "NP_001188457",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188457",
"type": "external"
}
],
"gene_names_uniprotkb": "PCSK2; NEC2",
"gene_names_refseq": "NEC 2; NEC-2; NEC2; PC2; PCSK2; SPC2",
"protein_names_uniprotkb": "Neuroendocrine convertase 2; 3.4.21.94; KEX2-like endoprotease 2; NEC 2; PC2; Prohormone convertase 2; Proprotein convertase 2",
"protein_names_refseq": "KEX2-like endoprotease 2; neuroendocrine convertase 2 isoform 3; neuroendocrine convertase 2; prohormone convertase 2",
"tax_id": 9606,
"disease": "alcohol use disorder (Disease Ontology:DOID:1574); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:5126); (R-HSA-264876)",
"pathway_count": 2,
"publication_count": 52,
"publication_id_list": "10521251;11462236;11493706;11707400;11904301;14617756;14704853;1528899;15331542;15878854;1594602;16158220;16158222;16407158;16714477;16959974;16984975;17618154;20036365;20308425;21091435;21145486;21308844;2154467;21713314;23090970;24190977;25091901;2669954;2822027;28719828;29557506;29741879;30078552;31154438;31184304;31844290;32723473;32794589;33485965;34357683;36201618;37938771;3896518;7626024;7983775;8879041;8916141;9166668;9207799;9287128;9631292",
"class_list": "",
"function": "PCSK2 expression in neuroendocrine tumors points to a midgut, pulmonary, or pheochromocytoma-paraganglioma origin., [RefSeq, PubMed]; SEMA3F, CLEC16A, LAMA3, and PCSK2 variants have roles in myocardial infarction in Japanese individuals, [RefSeq, PubMed]; Serine endopeptidase which is involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (PubMed:28719828, PubMed:7626024, PubMed:8879041, PubMed:9287128). Responsible for the release of glucagon from proglucagon in pancreatic A cells (PubMed:9287128). Mediates the release of insulin from proinsulin (PubMed:7626024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Single nucleotide polymorphisms in PCSK2 is associated with type 2 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]., [RefSeq]",
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"secondary_ac_list": "B1ANH9;B4DFQ3;Q14927;Q5JYQ1;Q8IWA8;Q9NQG3;Q9NUG1;Q9UJC6",
"ec_number_list": [
{
"id": "3.4.21.94",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.94",
"type": "external"
}
],
"go_molecular_function": "GO:0004252 serine-type endopeptidase activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0030141 secretory granule;GO:0043005 neuron projection;GO:0030133 transport vesicle",
"go_biological_process": "GO:0006508 proteolysis;GO:0007399 nervous system development;GO:0016486 peptide hormone processing;GO:0016540 protein autoprocessing;GO:0034230 enkephalin processing",
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"record_id": "P16519-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P30989-1",
"uniprot_id": [
{
"id": "NTR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P30989",
"type": "external"
}
],
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"length": 418,
"protein_name": "Neurotensin receptor type 1",
"gene_name": "NTSR1",
"organism": "Human",
"refseq_name": "neurotensin receptor type 1",
"refseq_ac": [
{
"id": "NP_002522",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002522",
"type": "external"
}
],
"gene_names_uniprotkb": "NTSR1; NTRR",
"gene_names_refseq": "NTR; NTSR1",
"protein_names_uniprotkb": "Neurotensin receptor type 1; High-affinity levocabastine-insensitive neurotensin receptor; NT-R-1; NTR1; NTRH",
"protein_names_refseq": "NT-R-1; NTR1; NTRH; high-affinity levocabastine-insensitive neurotensin receptor; neurotensin receptor 1 (high affinity); neurotensin receptor type 1",
"tax_id": 9606,
"disease": "alcohol dependence (Disease Ontology:DOID:0050741); Parkinson's disease (Disease Ontology:DOID:14330); opiate dependence (Disease Ontology:DOID:2559); schizophrenia (Disease Ontology:DOID:5419)",
"pathway": " (hsa:4923); (R-HSA-375276); (R-HSA-416476)",
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"class_list": "",
"function": "Adding of neurotensin to non-small cell lung cancer cells increases tyrosine phosphorylation of HER3., [RefSeq, PubMed]; Effect of NTSR1 on the Proliferation and Invasion of Gastric Adenocarcinoma Cells, the Underlying Mechanism, and Clinical Role., [RefSeq, PubMed]; G protein-coupled receptor for the tridecapeptide neurotensin (NTS) (PubMed:21725197, PubMed:23140271, PubMed:8381365). Signaling is effected via G proteins that activate a phosphatidylinositol-calcium second messenger system. Signaling leads to the activation of downstream MAP kinases and protects cells against apoptosis (PubMed:21725197)., [UniProtKB, PubMed, PubMed, PubMed]; NTSR1 glycosylation and MMP dependent cleavage generate three distinct forms of the protein. Publication Status: Online-Only, [RefSeq, PubMed]; Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q9H4H1;Q9H4T5",
"ec_number_list": [],
"go_molecular_function": "GO:0016492 G protein-coupled neurotensin receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043195 terminal bouton",
"go_biological_process": "GO:0051280 negative regulation of release of sequestered calcium ion into cytosol;GO:0001659 temperature homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway",
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},
{
"uniprot_canonical_ac": "Q01726-1",
"uniprot_id": [
{
"id": "MSHR_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q01726",
"type": "external"
}
],
"mass": 34706.0,
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"protein_name": "Melanocyte-stimulating hormone receptor",
"gene_name": "MC1R",
"organism": "Human",
"refseq_name": "melanocyte-stimulating hormone receptor",
"refseq_ac": [
{
"id": "NP_002377",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002377",
"type": "external"
}
],
"gene_names_uniprotkb": "MC1R; MSHR",
"gene_names_refseq": "CMM5; MC1R; MSH-R; SHEP2",
"protein_names_uniprotkb": "Melanocyte-stimulating hormone receptor; MC1-R; MSH-R; Melanocortin receptor 1",
"protein_names_refseq": "MC1-R; alpha melanocyte stimulating hormone receptor; melanocyte-stimulating hormone receptor; melanotropin receptor",
"tax_id": 9606,
"disease": "oculocutaneous albinism type II (Disease Ontology:DOID:0070096); pigmentation disease (Disease Ontology:DOID:10123); major depressive disorder (Disease Ontology:DOID:1470); melanoma (Disease Ontology:DOID:1909); familial melanoma (Disease Ontology:DOID:6846); melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:MONDO:0013133); obsolete skin/hair/eye pigmentation, variation in, 2 (MONDO:MONDO:0044259)",
"pathway": " (hsa:4157); (R-HSA-375276); (R-HSA-418555); (R-HSA-9856649)",
"pathway_count": 4,
"publication_count": 263,
"publication_id_list": "10079109;10100623;10101176;10340440;10381885;10403794;10421367;10421368;10438732;10461880;10498338;10499587;10567402;10604470;10611221;10631149;10655586;10673502;10854085;10899166;11007482;11027551;11237011;11254446;11322507;11385580;11411928;11442765;11457843;11500805;11500806;11511307;11562423;11683476;11707265;11720436;11750130;11773063;11840323;11886495;11891324;11912130;11930005;12036966;12058044;12106601;12180353;12427552;12473109;12540846;12663858;12719537;1280419;12860470;12956774;1314587;1317848;1325670;1337145;1346068;13549488;14463577;14550283;14573733;14671004;14975237;15118077;15139756;1516719;1517224;15221796;15226305;15507434;15539556;1567413;15765929;15769620;15947423;15951850;15972726;15992961;16014379;16034366;16313925;16463023;1655761;16567973;16601669;16645598;16687412;16822840;16923326;1698554;17072629;1710450;1710578;17130136;17168849;1719979;1722333;17371441;17434924;1748288;17623675;17952075;18044684;18127230;18366057;1847994;18539553;18577758;18637131;18644867;18657399;18987736;19105585;19269164;19338054;19452503;19524539;19608861;19737927;19799798;19876791;19929708;20129839;20381629;20460180;20876876;21036126;21410905;21486943;2163110;21737053;21965087;22095472;22464597;22647378;23159739;23190890;23207919;23446738;23522749;23690594;24045876;24170137;2417744;24687066;24715725;24906252;24917043;2491850;25248477;2553411;2553705;25595898;25645385;26103569;26417854;2649896;27128622;27496565;28394346;28501589;2871555;29295999;29443750;29602314;30397120;30804224;30833991;31097585;3127824;31279028;31399091;31983287;3202875;32157095;32226383;32497535;32540603;32618402;32636443;32715661;33049737;3366244;33744299;34140478;34453129;3525564;35874702;37608347;37714844;37762683;37770430;38565069;3856870;38923677;5338216;6085243;6274691;6281660;6373251;6589611;7057924;7524088;7581459;7590751;7592910;7592911;7624359;7797512;7905839;7958932;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8336698;8340388;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8514797;8615752;8666380;8672451;8702752;873923;8823230;8894704;8990005;9171878;9199364;9263355;9302268;9353119;9417641;9440696;9521323;9530155;9560246;9571181;9593744;9607765;9640562;9651336;9665397;9676189;9685625;9722565;9760192;9792798;9832121;9851594;9973413",
"class_list": "",
"function": "A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA. Publication Status: Online-Only, [RefSeq, PubMed]; Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Alpha-melanocyte stimulating hormone (alpha-MSH): biology, clinical relevance and implication in melanoma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein. Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (black/brown) and pheomelanin (red/yellow) in melanocytes. MC1R interacts with G protein-coupled receptor opsin 3/OPN3, which couples to G(i) proteins and inhibits the alpha-MSH-induced cAMP response, thereby reducing melanin synthesis. Binding to Agouti/ASP precludes alpha-MSH-induced signaling, thereby downregulating melanogenesis. Additionally, interaction with MGRN1 displaces the G(s) protein, further suppressing MC1R signaling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage., [RefSeq, PubMed]; Molecular Basis of MC1R Activation: Mutation-Induced Alterations in Structural Dynamics., [RefSeq, PubMed]; This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q66K38;Q6UR93;Q8WWX6;Q8WWX7;Q96I33;Q96RU4;Q9UBF7;Q9UN58;Q9UN59;Q9UN60;Q9UN61;Q9UN62",
"ec_number_list": [],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0042562 hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0004977 melanocortin receptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane",
"go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0032720 negative regulation of tumor necrosis factor production",
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},
{
"uniprot_canonical_ac": "Q96G30-1",
"uniprot_id": [
{
"id": "MRAP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96G30",
"type": "external"
}
],
"mass": 23548.0,
"length": 205,
"protein_name": "Melanocortin-2 receptor accessory protein 2",
"gene_name": "MRAP2",
"organism": "Human",
"refseq_name": "melanocortin-2 receptor accessory protein 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001333470",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333470",
"type": "external"
}
],
"gene_names_uniprotkb": "MRAP2; C6orf117",
"gene_names_refseq": "C6orf117; MRAP2; bA51G5.2",
"protein_names_uniprotkb": "Melanocortin-2 receptor accessory protein 2; MC2R accessory protein 2",
"protein_names_refseq": "MC2R accessory protein 2; melanocortin-2 receptor accessory protein 2 isoform 2",
"tax_id": 9606,
"disease": "obesity (Disease Ontology:DOID:9970); obsolete body mass index quantitative trait locus 18 (MONDO:MONDO:0044283)",
"pathway": " (hsa:112609)",
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"publication_id_list": "19329486;20371771;23186163;23869016;31911434;32578125;32943551",
"class_list": "",
"function": "Identify MRAP and MRAP2 as unique bidirectional regulators of the melanocortin receptor family, [RefSeq, PubMed]; MRAP2 is an endogenous inhibitor that competes with MRAP for binding to MC2R and decreases the potency of adrenocorticotropic hormone (ACTH). Publication Status: Online-Only, [RefSeq, PubMed]; Membrane orientation and oligomerization of the melanocortin receptor accessory protein 2., [RefSeq, PubMed]; Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidence is required in vivo., [UniProtKB, PubMed, PubMed]; Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients., [RefSeq, PubMed]; The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]., [RefSeq]",
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"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 2,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K9M1;Q8IXM9;Q8N2D1",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0031781 type 3 melanocortin receptor binding;GO:0031782 type 4 melanocortin receptor binding;GO:0070996 type 1 melanocortin receptor binding;GO:0031780 corticotropin hormone receptor binding",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0097009 energy homeostasis;GO:0007631 feeding behavior;GO:0006112 energy reserve metabolic process;GO:1903077 negative regulation of protein localization to plasma membrane",
"synthesized_glycan_count": 0,
"hit_score": 0.9,
"record_id": "Q96G30-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96LB0-1",
"uniprot_id": [
{
"id": "MRGX3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LB0",
"type": "external"
}
],
"mass": 36483.0,
"length": 322,
"protein_name": "Mas-related G protein-coupled receptor member X3",
"gene_name": "MRGPRX3",
"organism": "Human",
"refseq_name": "mas-related G-protein coupled receptor member X3",
"refseq_ac": [
{
"id": "NP_473372",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_473372",
"type": "external"
}
],
"gene_names_uniprotkb": "MRGPRX3; MRGX3; SNSR1; SNSR2",
"gene_names_refseq": "GPCR; MRGPRX3; MRGX3; SNSR1; SNSR2",
"protein_names_uniprotkb": "Mas-related G protein-coupled receptor member X3; Sensory neuron-specific G protein-coupled receptor 1/2",
"protein_names_refseq": "G protein-coupled receptor MRGX3; G protein-coupled receptor SNSR1; G protein-coupled receptor SNSR2; MAS-related GPR, member X3; mas-related G-protein coupled receptor member X3; mas-related GPCR member X3; sensory neuron-specific G-protein coupled receptor 1/2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:117195)",
"pathway_count": 1,
"publication_count": 8,
"publication_id_list": "11551509;11850634;15809047;24715725;28189739;29408502;34552215;35051231",
"class_list": "",
"function": "GPCR-mediated EGFR transactivation ameliorates skin toxicities induced by afatinib., [RefSeq, PubMed]; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity)., [UniProtKB]; Our data demonstrate that GPR182 is an endothelial subtype-specific marker for human sinusoidal EC of the liver, spleen, lymph node and bone marrow. In addition, we provide evidence for GPR182-dependent downstream signaling via ERK and SRF pathways that may be involved in regulating endothelial subtype-specific sinusoidal differentiation and sinusoidal functions such as permeability., [RefSeq, PubMed]; Overexpression of the human MrgX3 gene causes a disturbance of the normal cell-differentiation process, [RefSeq, PubMed]; Potential of GPCRs to modulate MAPK and mTOR pathways in different stages of the neurodegenerative disease. Review article, [RefSeq, PubMed]; This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
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"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 16,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B0M0L1;Q8TDE0;Q8TDE1",
"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 0.9,
"record_id": "Q96LB0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y5U8-1",
"uniprot_id": [
{
"id": "MPC1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y5U8",
"type": "external"
}
],
"mass": 12347.0,
"length": 109,
"protein_name": "Mitochondrial pyruvate carrier 1",
"gene_name": "MPC1",
"organism": "Human",
"refseq_name": "mitochondrial pyruvate carrier 1 isoform 1",
"refseq_ac": [
{
"id": "NP_057182",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057182",
"type": "external"
}
],
"gene_names_uniprotkb": "MPC1; BRP44L; CGI-129; HSPC040; PNAS-115",
"gene_names_refseq": "BRP44L; CGI-129; MPC1; MPYCD; SLC54A1",
"protein_names_uniprotkb": "Mitochondrial pyruvate carrier 1; Brain protein 44-like protein",
"protein_names_refseq": "HSPC040 protein; brain protein 44-like protein; mitochondrial pyruvate carrier 1 isoform 1",
"tax_id": 9606,
"disease": "mitochondrial pyruvate carrier deficiency (Disease Ontology:DOID:0080363); intestinal cancer (Disease Ontology:DOID:10155); mitochondrial metabolism disease (Disease Ontology:DOID:700)",
"pathway": " (hsa:51660); (R-HSA-70268)",
"pathway_count": 2,
"publication_count": 96,
"publication_id_list": "10380706;11237011;11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;17672918;18351441;1931970;1935931;19679512;19834535;1993674;1996957;20877624;21156174;22628558;23284632;23783831;2440048;24998673;25202825;25575590;25594249;25645385;26154972;26253029;26992070;27166188;27317664;28218747;28228285;28489076;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29472561;29493099;29557506;29632046;29789417;30315122;30410026;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32403431;32488085;33064660;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33981976;34185709;3435492;34509645;34561969;34932366;35278701;35580925;36010968;36241641;36284347;36417180;36708143;37938771;38354856;38411275;39390460;40044865;40101766;4822737;7757881;7818469;8726225;9119391;9705294",
"class_list": "",
"function": "Exploring MPC1 as a potential ferroptosis-linked biomarker in the cervical cancer tumor microenvironment: a comprehensive analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Inactivation of mitochondrial pyruvate carrier promotes NLRP3 inflammasome activation and gout development via metabolic reprogramming., [RefSeq, PubMed]; Loss of mitochondrial pyruvate carrier 1 supports proline-dependent proliferation and collagen biosynthesis in ovarian cancer., [RefSeq, PubMed]; Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation (PubMed:22628558, PubMed:26253029, PubMed:27317664, PubMed:40044865, PubMed:40101766). Plays an essential role in cellular metabolism (PubMed:40044865, PubMed:40101766)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates the uptake of pyruvate into mitochondria., [UniProtKB, UniProtKB]; Metabolism-focused CRISPR screen unveils mitochondrial pyruvate carrier 1 as a critical driver for PARP inhibitor resistance in lung cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 1 is discussed, [RefSeq, PubMed]; The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
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"reported_c_glycosites": 0,
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"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
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"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 0,
"reported_mutagensis": 1,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 3,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B2R5I7;Q5TI66;Q9HB67;Q9UQN4",
"ec_number_list": [],
"go_molecular_function": "GO:0050833 pyruvate transmembrane transporter activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane",
"go_biological_process": "GO:0006850 pyruvate import into mitochondria",
"synthesized_glycan_count": 0,
"hit_score": 9.7,
"record_id": "Q9Y5U8-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P01375-1",
"uniprot_id": [
{
"id": "TNFA_HUMAN",
"url": "https://www.uniprot.org/uniprot/P01375",
"type": "external"
}
],
"mass": 25644.0,
"length": 233,
"protein_name": "Tumor necrosis factor",
"gene_name": "TNF",
"organism": "Human",
"refseq_name": "tumor necrosis factor",
"refseq_ac": [
{
"id": "NP_000585",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000585",
"type": "external"
}
],
"gene_names_uniprotkb": "TNF; TNFA; TNFSF2",
"gene_names_refseq": "DIF; IMD127; TNF-alpha; TNFA; TNFSF2; TNF; TNLG1F",
"protein_names_uniprotkb": "Tumor necrosis factor; Cachectin; N-terminal fragment; NTF; TNF-alpha; TNF-a; Tumor necrosis factor ligand superfamily member 2",
"protein_names_refseq": "APC1 protein; TNF, macrophage-derived; TNF, monocyte-derived; TNF-a; tumor necrosis factor ligand 1F; tumor necrosis factor ligand superfamily member 2; tumor necrosis factor-alpha; tumor necrosis factor; tumor necrotic factor alpha",
"tax_id": 9606,
"disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); mevalonic aciduria (Disease Ontology:DOID:0050452); Weill-Marchesani syndrome (Disease Ontology:DOID:0050475); inflammatory bowel disease (Disease Ontology:DOID:0050589); hypochromic microcytic anemia (Disease Ontology:DOID:0050642); small cell carcinoma (Disease Ontology:DOID:0050685); chorioamnionitis (Disease Ontology:DOID:0050697); cardiomyopathy (Disease Ontology:DOID:0050700); obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); myelodysplastic syndrome (Disease Ontology:DOID:0050908); stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); cardiac arrest (Disease Ontology:DOID:0060319); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); immunodeficiency 127 (Disease Ontology:DOID:0061092); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); lupus nephritis (Disease Ontology:DOID:0080162); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); erythema nodosum (Disease Ontology:DOID:0080750); Graves ophthalmopathy (Disease Ontology:DOID:0081120); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); sensorineural hearing loss (Disease Ontology:DOID:10003); leprosy (Disease Ontology:DOID:1024); thalassemia (Disease Ontology:DOID:10241); pleurisy (Disease Ontology:DOID:10247); prostate cancer (Disease Ontology:DOID:10283); silicosis (Disease Ontology:DOID:10325); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); renal hypertension (Disease Ontology:DOID:1073); otitis media (Disease Ontology:DOID:10754); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); sickle cell anemia (Disease Ontology:DOID:10923); intracranial aneurysm (Disease Ontology:DOID:10941); cholesteatoma of middle ear (Disease Ontology:DOID:10964); anogenital venereal wart (Disease Ontology:DOID:11168); spondyloarthropathy (Disease Ontology:DOID:1123); disseminated intravascular coagulation (Disease Ontology:DOID:11247); trachoma (Disease Ontology:DOID:11265); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary edema (Disease Ontology:DOID:11396); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); cicatricial pemphigoid (Disease Ontology:DOID:11656); diabetic angiopathy (Disease Ontology:DOID:11713); iron deficiency anemia (Disease Ontology:DOID:11758); hepatorenal syndrome (Disease Ontology:DOID:11823); esophagitis (Disease Ontology:DOID:11963); primary biliary cholangitis (Disease Ontology:DOID:12236); beta thalassemia (Disease Ontology:DOID:12241); neutropenia (Disease Ontology:DOID:1227); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); vitiligo (Disease Ontology:DOID:12306); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); malaria (Disease Ontology:DOID:12365); aplastic anemia (Disease Ontology:DOID:12449); hepatitis A (Disease Ontology:DOID:12549); paracoccidioidomycosis (Disease Ontology:DOID:12662); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); intermediate uveitis (Disease Ontology:DOID:12732); migraine without aura (Disease Ontology:DOID:12783); mucopolysaccharidosis VI (Disease Ontology:DOID:12800); autistic disorder (Disease Ontology:DOID:12849); Sjogren's syndrome (Disease Ontology:DOID:12894); keratoconjunctivitis sicca (Disease Ontology:DOID:12895); dilated cardiomyopathy (Disease Ontology:DOID:12930); periventricular leukomalacia (Disease Ontology:DOID:13088); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); typhoid fever (Disease Ontology:DOID:13258); Mycoplasma pneumoniae pneumonia (Disease Ontology:DOID:13276); Kawasaki disease (Disease Ontology:DOID:13378); pulmonary sarcoidosis (Disease Ontology:DOID:13406); scleritis (Disease Ontology:DOID:13452); low tension glaucoma (Disease Ontology:DOID:13544); Fanconi anemia (Disease Ontology:DOID:13636); peptic esophagitis (Disease Ontology:DOID:13976); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); anterior uveitis (Disease Ontology:DOID:1407); toxic shock syndrome (Disease Ontology:DOID:14115); farmer's lung (Disease Ontology:DOID:14453); root resorption (Disease Ontology:DOID:14550); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); thrombocytopenia (Disease Ontology:DOID:1588); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); glaucoma (Disease Ontology:DOID:1686); aortic valve stenosis (Disease Ontology:DOID:1712); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); Gaucher's disease (Disease Ontology:DOID:1926); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); transient cerebral ischemia (Disease Ontology:DOID:224); hidradenitis suppurativa (Disease Ontology:DOID:2280); hemochromatosis (Disease Ontology:DOID:2352); anemia (Disease Ontology:DOID:2355); multiple sclerosis (Disease Ontology:DOID:2377); ovarian cancer (Disease Ontology:DOID:2394); dermatitis (Disease Ontology:DOID:2723); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); cryoglobulinemia (Disease Ontology:DOID:2917); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); breast adenocarcinoma (Disease Ontology:DOID:3458); mixed connective tissue disease (Disease Ontology:DOID:3492); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); skin disease (Disease Ontology:DOID:37); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); gastritis (Disease Ontology:DOID:4029); heart valve disease (Disease Ontology:DOID:4079); liver disease (Disease Ontology:DOID:409); coronary restenosis (Disease Ontology:DOID:4247); radiculopathy (Disease Ontology:DOID:4306); cervical cancer (Disease Ontology:DOID:4362); pustulosis of palm and sole (Disease Ontology:DOID:4398); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); endophthalmitis (Disease Ontology:DOID:4692); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); retinal detachment (Disease Ontology:DOID:5327); schizophrenia (Disease Ontology:DOID:5419); cochlear disease (Disease Ontology:DOID:5463); kidney disease (Disease Ontology:DOID:557); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); lymphopenia (Disease Ontology:DOID:614); myositis (Disease Ontology:DOID:633); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); acne (Disease Ontology:DOID:6543); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); peritonitis (Disease Ontology:DOID:8283); extrinsic allergic alveolitis (Disease Ontology:DOID:841); corneal ulcer (Disease Ontology:DOID:8463); lung disease (Disease Ontology:DOID:850); dermatitis herpetiformis (Disease Ontology:DOID:8505); Cor pulmonale (Disease Ontology:DOID:8515); herpes zoster (Disease Ontology:DOID:8536); ulcerative colitis (Disease Ontology:DOID:8577); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); alcoholic gastritis (Disease Ontology:DOID:8680); vascular dementia (Disease Ontology:DOID:8725); bacterial pneumonia (Disease Ontology:DOID:874); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); hepatopulmonary syndrome (Disease Ontology:DOID:900); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111); amyloidosis (Disease Ontology:DOID:9120); visceral leishmaniasis (Disease Ontology:DOID:9146); mucocutaneous leishmaniasis (Disease Ontology:DOID:9155); type 2 diabetes mellitus (Disease Ontology:DOID:9352); epididymitis (Disease Ontology:DOID:9402); acute myocardial infarction (Disease Ontology:DOID:9408); multiple myeloma (Disease Ontology:DOID:9538); bronchiectasis (Disease Ontology:DOID:9563); encephalitis (Disease Ontology:DOID:9588); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); muscular dystrophy (Disease Ontology:DOID:9884); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976); hepatitis B virus, susceptibility to (MONDO:MONDO:0012488); malaria, susceptibility to (MONDO:MONDO:0021024); psoriatic arthritis, susceptibility to (MONDO:MONDO:0100232)",
"pathway": " (hsa:7124); (R-HSA-381340); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5626978); (R-HSA-5668541); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-75893); (R-HSA-9942503)",
"pathway_count": 11,
"publication_count": 315,
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"class_list": "glycogene",
"function": "Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T-cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Up-regulates the expression of protein phosphatase 1 (PP1), which dephosphorylates the key 'Ser-418' residue of FOXP3, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Key mediator of cell death in the anticancer action of BCG-stimulated neutrophils in combination with DIABLO/SMAC mimetic in the RT4v6 bladder cancer cell line (PubMed:16829952, PubMed:22517918, PubMed:23396208). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces GKAP42 protein degradation in adipocytes which is partially responsible for TNF-induced insulin resistance (By similarity). Plays a role in angiogenesis by inducing VEGF production synergistically with IL1B and IL6 (PubMed:12794819). Promotes osteoclastogenesis and therefore mediates bone resorption (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Human microglia-derived proinflammatory cytokines facilitate human retinal ganglion cell development and regeneration., [RefSeq, PubMed]; Investigations of associations between TNF-alpha promoter polymorphisms and genetic susceptibility to type 2 diabetes mellitus: A cross-sectional study in Chinese Han population., [RefSeq, PubMed]; TNF Induces Laminin-332-Encoding Genes in Endothelial Cells and Laminin-332 Promotes an Atherogenic Endothelial Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells. Publication Status: Online-Only, [RefSeq, PubMed]; TNF-alpha and RPLP0 drive the apoptosis of endothelial cells and increase susceptibility to high-altitude pulmonary edema., [RefSeq, PubMed]; The TNF intracellular domain (ICD) form induces IL12 production in dendritic cells., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]., [RefSeq]",
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"secondary_ac_list": "O43647;Q9P1Q2;Q9UIV3",
"ec_number_list": [],
"go_molecular_function": "GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0000976 transcription cis-regulatory region binding;GO:0048018 receptor ligand activity",
"go_cellular_component": "GO:0001891 phagocytic cup;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface",
"go_biological_process": "GO:2000347 positive regulation of hepatocyte proliferation;GO:0060557 positive regulation of vitamin D biosynthetic process;GO:0032741 positive regulation of interleukin-18 production;GO:0010888 negative regulation of lipid storage;GO:0060252 positive regulation of glial cell proliferation",
"synthesized_glycan_count": 0,
"hit_score": 32.2,
"record_id": "P01375-1",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "S6A16_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9GZN6",
"type": "external"
}
],
"mass": 82200.0,
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"protein_name": "Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5",
"gene_name": "SLC6A16",
"organism": "Human",
"refseq_name": "orphan sodium- and chloride-dependent neurotransmitter transporter NTT5",
"refseq_ac": [
{
"id": "NP_054756",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_054756",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC6A16; NTT5",
"gene_names_refseq": "NT5; NTT5; SLC6A16",
"protein_names_uniprotkb": "Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5; Solute carrier family 6 member 16",
"protein_names_refseq": "CTC-301O7.4; orphan sodium- and chloride-dependent neurotransmitter transporter NTT5; solute carrier family 6 (neurotransmitter transporter), member 16",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:28968)",
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"class_list": "",
"function": "SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]., [RefSeq]",
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"secondary_ac_list": "Q8IYV4;Q9Y5I9",
"ec_number_list": [],
"go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015293 symporter activity;GO:0022857 transmembrane transporter activity;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0006836 neurotransmitter transport",
"synthesized_glycan_count": 0,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7M4L6-1",
"uniprot_id": [
{
"id": "SHF_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7M4L6",
"type": "external"
}
],
"mass": 46768.0,
"length": 423,
"protein_name": "SH2 domain-containing adapter protein F",
"gene_name": "SHF",
"organism": "Human",
"refseq_name": "SH2 domain-containing adapter protein F isoform b",
"refseq_ac": [
{
"id": "NP_612365",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_612365",
"type": "external"
}
],
"gene_names_uniprotkb": "SHF",
"gene_names_refseq": "SHF",
"protein_names_uniprotkb": "SH2 domain-containing adapter protein F",
"protein_names_refseq": "CTD-2651B20.7; SH2 domain-containing adapter protein F isoform b; SH2 domain-containing adapter protein F",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90525)",
"pathway_count": 1,
"publication_count": 7,
"publication_id_list": "11095946;11237011;23360421;31844290;32502341;35843865;36527512",
"class_list": "",
"function": "Adapter protein which may play a role in the regulation of apoptosis in response to PDGF., [UniProtKB, PubMed]; Patients showing high ALK and low Shf mRNA expressions showed poor prognosis., [RefSeq, PubMed]; SHF Acts as a Novel Tumor Suppressor in Glioblastoma Multiforme by Disrupting STAT3 Dimerization., [RefSeq, PubMed]; SHF confers radioresistance in colorectal cancer by the regulation of mitochondrial DNA copy number., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "Q96IE8",
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"go_molecular_function": "GO:0001784 phosphotyrosine residue binding",
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"go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process",
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},
{
"uniprot_canonical_ac": "Q8TEA1-1",
"uniprot_id": [
{
"id": "NSUN6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TEA1",
"type": "external"
}
],
"mass": 51770.0,
"length": 469,
"protein_name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
"gene_name": "NSUN6",
"organism": "Human",
"refseq_name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1",
"refseq_ac": [
{
"id": "NP_872349",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349",
"type": "external"
}
],
"gene_names_uniprotkb": "NSUN6; NOPD1",
"gene_names_refseq": "4933414E04Rik; ARL5B-AS1; MRT82; NOPD1; NSUN6",
"protein_names_uniprotkb": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6; 2.1.1.-; NOL1/NOP2/Sun and PUA domain-containing protein 1; NOL1/NOP2/Sun domain family member 6",
"protein_names_refseq": "ARL5B antisense RNA 1; NOL1/NOP2/Sun and PUA domain-containing protein 1; NOL1/NOP2/Sun domain family, member 6; NOP2/Sun RNA methyltransferase family member 6; nucleolar protein (NOL1/NOP2/sun) and PUA domains 1; putative methyltransferase NSUN6; tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1; tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
"tax_id": 9606,
"disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autosomal recessive intellectual developmental disorder 82 (Disease Ontology:DOID:0060947)",
"pathway": " (hsa:221078); (R-HSA-6782315)",
"pathway_count": 2,
"publication_count": 75,
"publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18083107;18567810;19017811;19414587;19608861;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24901367;25261850;25404562;25576301;25916855;26160102;26310293;26375851;27055666;27600516;27703015;27846572;27920218;28228285;28531330;28832583;28904123;29242379;29557506;30315122;31217245;31481669;31844290;32157095;32357974;32387766;32938616;33141586;33330931;33418496;33717175;33912179;33968037;34561969;34705606;36241641;36610787;37226891;38029727;39894887;9430663;9851972",
"class_list": "",
"function": "Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder., [RefSeq, PubMed]; Findings identified NSUN6 as a novel mammalian m5C tRNA methyltransferase and suggest that methylation of tRNAs by NSUN6 occurs during a late step of tRNA biogenesis, after the addition of the CCA tail and export of the tRNA from the nucleus., [RefSeq, PubMed]; Findings suggest that human NSun6 relies on a delicate network for RNA recognition, which involves both the primary sequence and tertiary structure of tRNA substrates., [RefSeq, PubMed]; NSUN6 Regulates NM23-H1 Expression in an m5C Manner to Affect Epithelial-Mesenchymal Transition in Lung Cancer., [RefSeq, PubMed]; NSUN6, an RNA methyltransferase of 5-mC controls glioblastoma response to temozolomide (TMZ) via NELFB and RPS6KB2 interaction., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA) (PubMed:26160102, PubMed:27703015, PubMed:28531330). In vitro also methylates tRNA(Thr)(AGT) (PubMed:26160102, PubMed:27703015). Methylation requires, in the acceptor stem region, the presence of the 3'-CCA terminus, the target site C72, the discriminator base U73, and the second and third base pairs (2:71 and 3:70) in the tRNA substrates (PubMed:26160102, PubMed:27703015)., [UniProtKB, PubMed, PubMed, PubMed]; Sequence- and structure-specific cytosine-5 mRNA methylation by NSUN6., [RefSeq, PubMed]; The RNA methyltransferase NSUN6 suppresses pancreatic cancer development by regulating cell proliferation., [RefSeq, PubMed]; The structures of NSun6, a human tRNA:m5C methyltransferase, in the apo form and in complex with a full-length tRNA substrate., [RefSeq, PubMed]",
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"secondary_ac_list": "B0YJ54",
"ec_number_list": [
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0016428 tRNA (cytidine-5-)-methyltransferase activity;GO:0000049 tRNA binding;GO:0003723 RNA binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0002946 tRNA C5-cytosine methylation;GO:0006400 tRNA modification;GO:0030488 tRNA methylation;GO:0001510 RNA methylation",
"synthesized_glycan_count": 0,
"hit_score": 7.8,
"record_id": "Q8TEA1-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P50454-1",
"uniprot_id": [
{
"id": "SERPH_HUMAN",
"url": "https://www.uniprot.org/uniprot/P50454",
"type": "external"
}
],
"mass": 46441.0,
"length": 418,
"protein_name": "Serpin H1",
"gene_name": "SERPINH1",
"organism": "Human",
"refseq_name": "serpin H1 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001193943",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193943",
"type": "external"
}
],
"gene_names_uniprotkb": "SERPINH1; CBP1; CBP2; HSP47; PIG14; SERPINH2",
"gene_names_refseq": "AsTP3; CBP1; CBP2; HSP47; OI10; PIG14; PPROM; RA-A47; SERPINH1; SERPINH2; gp46",
"protein_names_uniprotkb": "Serpin H1; 47 kDa heat shock protein; Arsenic-transactivated protein 3; AsTP3; Cell proliferation-inducing gene 14 protein; Collagen-binding protein; Colligin; Rheumatoid arthritis-related antigen RA-A47",
"protein_names_refseq": "47 kDa heat shock protein; arsenic-transactivated protein 3; cell proliferation-inducing gene 14 protein; colligin-1; colligin-2; rheumatoid arthritis antigen A-47; rheumatoid arthritis-related antigen RA-A47; serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2); serpin H1 isoform 1 precursor; serpin H1; serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)",
"tax_id": 9606,
"disease": "osteogenesis imperfecta type 10 (Disease Ontology:DOID:0110346); preterm premature rupture of the membranes (Disease Ontology:DOID:0111144); liver cirrhosis (Disease Ontology:DOID:5082)",
"pathway": " (hsa:871); (R-HSA-1650814)",
"pathway_count": 2,
"publication_count": 133,
"publication_id_list": "37268159;10.1101/2023.09.13.557529;10479448;10934207;11052465;11237011;12473679;12475640;12646579;1309665;1323838;14500733;15044469;1577494;16591531;16938879;18487197;19075007;19693541;20068231;20188343;20470363;21878990;21967573;22661428;22898188;22905912;23090970;23186163;23301498;23345538;23481700;24190977;24623841;24715725;25418920;2543975;25576301;25645385;25810538;25892735;26375851;26811146;26992070;27058226;27452731;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29557506;29741879;29786170;29789417;30315122;30429286;30444036;30484775;30524438;30779550;30833945;31154438;31217245;31373491;31530632;31611695;3173483;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34509645;34725712;35051231;35083852;35138101;35251023;35318648;35561310;35580925;36215666;36241641;36284347;37074911;37217939;37938771;38055382;38101577;38432483;38665916;38963323;3905801;3938630;40596516;40959291;41018975;6307276;6809411;710450;7475306;7656593;9054364;9545296;9560306;9582318",
"class_list": "",
"function": "A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19212], [RefSeq, PubMed]; Alteration of SERPINH1 is associated with elevated expression in head and neck squamous cell carcinomas and its clinicopathological significance., [RefSeq, PubMed]; Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-29c-3p represses the angiogenesis of esophageal squamous cell carcinoma by targeting SERPINH1 to regulate the Wnt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study., [RefSeq, PubMed]; This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]., [RefSeq]",
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"secondary_ac_list": "B3KVJ3;P29043;Q5XPB4;Q6NSJ6;Q8IY96;Q9NP88",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0051082 unfolded protein binding;GO:0005518 collagen binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0045121 membrane raft",
"go_biological_process": "GO:0030199 collagen fibril organization;GO:0006986 response to unfolded protein",
"synthesized_glycan_count": 0,
"hit_score": 19.2,
"record_id": "P50454-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96CW6-1",
"uniprot_id": [
{
"id": "S7A6O_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96CW6",
"type": "external"
}
],
"mass": 35028.0,
"length": 309,
"protein_name": "Probable RNA polymerase II nuclear localization protein SLC7A6OS",
"gene_name": "SLC7A6OS",
"organism": "Human",
"refseq_name": "probable RNA polymerase II nuclear localization protein SLC7A6OS",
"refseq_ac": [
{
"id": "NP_115554",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115554",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC7A6OS",
"gene_names_refseq": "EPM12; Iwr1; SLC7A6OS",
"protein_names_uniprotkb": "Probable RNA polymerase II nuclear localization protein SLC7A6OS; ADAMS proteinase-related protein; Solute carrier family 7 member 6 opposite strand transcript",
"protein_names_refseq": "ADAMS proteinase-related protein; probable RNA polymerase II nuclear localization protein SLC7A6OS; protein SLC7A6OS; solute carrier family 7 member 6 opposite strand transcript",
"tax_id": 9606,
"disease": "progressive myoclonus epilepsy (Disease Ontology:DOID:891); epilepsy, progressive myoclonic, 12 (MONDO:MONDO:0030936)",
"pathway": " (hsa:84138)",
"pathway_count": 1,
"publication_count": 47,
"publication_id_list": "11237011;15640104;17081983;18669648;18767875;19413330;19415658;19651622;19690332;20068231;20510023;21504834;23186163;24275569;25576301;26375851;26758079;26992070;27862975;28218747;28832583;29242379;29437277;29493099;29769354;30315122;30379171;30410026;30429286;31154438;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33085104;33141586;33298915;33392160;33912179;33968037;33981976;35580925;36241641;37938771",
"class_list": "",
"function": "Directs RNA polymerase II nuclear import., [UniProtKB, UniProtKB, UniProtKB]; Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS., [RefSeq, PubMed]; Results describe the characterization of a protease-related protein, ARP1, in Chang-liver cells., [RefSeq, PubMed]",
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"secondary_ac_list": "Q8TCZ3;Q9H8R8",
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"go_molecular_function": "",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0015031 protein transport;GO:0032502 developmental process",
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"hit_score": 5.0,
"record_id": "Q96CW6-1",
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},
{
"uniprot_canonical_ac": "Q8IV08-1",
"uniprot_id": [
{
"id": "PLD3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IV08",
"type": "external"
}
],
"mass": 54705.0,
"length": 490,
"protein_name": "5'-3' exonuclease PLD3",
"gene_name": "PLD3",
"organism": "Human",
"refseq_name": "5'-3' exonuclease PLD3",
"refseq_ac": [
{
"id": "NP_001026866",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026866",
"type": "external"
}
],
"gene_names_uniprotkb": "PLD3",
"gene_names_refseq": "AD19; HU-K4; HUK4; PLD3; SCA46",
"protein_names_uniprotkb": "5'-3' exonuclease PLD3; (S,S)-bis(monoacylglycero)phosphate synthase PLD3; 2.3.1.-; 3.1.16.1; HindIII K4L homolog; Hu-K4; Phospholipase D3",
"protein_names_refseq": "(S,S)-bis(monoacylglycero)phosphate synthase PLD3; 5'-3' exonuclease PLD3; choline phosphatase 3; hindIII K4L homolog; phosphatidylcholine-hydrolyzing phospholipase D3",
"tax_id": 9606,
"disease": "spinocerebellar ataxia 46 (Disease Ontology:DOID:0080288)",
"pathway": " (hsa:23646); (R-HSA-1483148); (R-HSA-2029485)",
"pathway_count": 3,
"publication_count": 121,
"publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10224668;10579907;11237011;11425868;11749377;12660731;12869549;15161916;15294978;15536084;15794758;15809313;16497229;16678913;17590538;19159218;21641550;22428023;22645359;23090970;23301498;23481700;24190977;24336208;24715725;25502872;25645385;25832408;25832409;25832410;25832411;25832413;25892735;26154972;26411346;26992070;27090790;27397612;27543614;28128235;28218747;28228285;28467828;28832583;28834231;29053796;29242379;29314611;29317506;29368044;29386126;29437277;29557506;29632711;29741879;29769354;30111894;30192525;30312375;30315122;30410026;30429286;30573663;30779550;31154438;31611695;31844290;31848261;32157095;32162841;32350084;32357974;32387766;32897882;32938616;32983136;33043033;33298915;33392160;33592498;33717175;33830999;33912179;33936100;33968037;33981976;34019948;34089345;34357683;34509645;34620855;34725712;34932366;35051231;35154160;35251023;35561310;35580925;36215666;36284347;37074911;3718705;37225734;37938771;37994783;38537643;38665916;38697119;39423811;7517665;8228618;8380172;8530346;8657103;9140189;9407135;9761774;9973503",
"class_list": "",
"function": "Can alternatively catalyze the transfer (transphosphatidylation) of a glycerol group between (S,R)-lysophosphatidylglycerol (LPG) and monoacylglycerol (MAG). The reaction is characterized by an R-to-S stereo-inversion which is essential for the resistance of the produced (S,S)-bis(monoacylglycero)phosphates (BMPs) to lysosomal degradation. The resulting BMPs, are phospholipids required for the formation of lysosomal intralumenal vesicles (ILVs) where lipid degradation can occur., [UniProtKB, PubMed]; Lysosomal 5'->3' exonuclease that functions in nucleic-acid sensing by immune cells. Hydrolyzes phosphodiester bond in single-stranded RNA and DNA molecules, with a higher efficiency for molecules with 5' uridine and guanosine residues. It can stall at certain sites and does not necessarily proceed to complete exonucleolytic degradation, thereby producing nucleoside 3'-monophosphates but also 5'-end 5'-hydroxy deoxyribonucleotide/ribonucleotide fragments (PubMed:30111894, PubMed:30312375, PubMed:34620855, PubMed:37994783, PubMed:38537643, PubMed:38697119). Through the processing of self and exogenous RNA and DNA molecules, provides molecular signals to toll-like receptors (TLRs) in innate immunity. Partially redundant with PLD4, it cooperates with the RNase T2/RNASET2 to generate 2',3'-cGMP and cytidine-rich RNA fragments that occupy the two TLR7 ligand-binding pockets, to trigger receptor activation and signaling (PubMed:34620855, PubMed:38697119). Degrades mitochondrial CpG-rich ssDNA fragments to prevent TLR9 activation and autoinflammatory response, but it can cleave viral RNA to generate ligands for TLR7 activation and initiate antiviral immune responses (PubMed:37225734). Can exert polynucleotide phosphatase activity toward 5'-phosphorylated single-stranded DNA substrates although at a slow rate (PubMed:38537643). Regulates the homeostasis and interorganellar communication of the endolysosomal system with an overall impact on cellular removal of dysfunctional organelles via autophagy as well as proper protein and lipid turnover (PubMed:28128235, PubMed:29368044, PubMed:37225734). May play a role in myotube formation in response to ER stress (PubMed:22428023)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PLD3 is a neuronal lysosomal phospholipase D associated with beta-amyloid plaques and cognitive function in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Structural analysis of PLD3 reveals insights into the mechanism of lysosomal 5' exonuclease-mediated nucleic acid degradation., [RefSeq, PubMed]; This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]",
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"secondary_ac_list": "Q92853;Q9BW87",
"ec_number_list": [
{
"id": "3.1.4.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4",
"type": "external"
},
{
"id": "2.3.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
"type": "external"
},
{
"id": "3.1.16.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.16.1",
"type": "external"
},
{
"id": "3.1.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-",
"type": "external"
}
],
"go_molecular_function": "GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups;GO:0004534 5'-3' RNA exonuclease activity;GO:0035312 5'-3' DNA exonuclease activity;GO:0045145 single-stranded DNA 5'-3' DNA exonuclease activity;GO:0004527 exonuclease activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane",
"go_biological_process": "GO:0006629 lipid metabolic process;GO:0006954 inflammatory response;GO:0014902 myotube differentiation;GO:1900015 regulation of cytokine production involved in inflammatory response;GO:0002376 immune system process",
"synthesized_glycan_count": 0,
"hit_score": 17.0,
"record_id": "Q8IV08-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q14938-1",
"uniprot_id": [
{
"id": "NFIX_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14938",
"type": "external"
}
],
"mass": 55098.0,
"length": 502,
"protein_name": "Nuclear factor 1 X-type",
"gene_name": "NFIX",
"organism": "Human",
"refseq_name": "nuclear factor 1 X-type isoform 3",
"refseq_ac": [
{
"id": "NP_001257973",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257973",
"type": "external"
}
],
"gene_names_uniprotkb": "NFIX",
"gene_names_refseq": "CTF; MALNS; MRSHSS; NF-I/X; NF1-X; NF1A; NFIX; SOTOS2",
"protein_names_uniprotkb": "Nuclear factor 1 X-type; CCAAT-box-binding transcription factor; CTF; NF-I/X; NF1-X; NFI-X; Nuclear factor 1/X; Nuclear factor I/X; TGGCA-binding protein",
"protein_names_refseq": "CCAAT-box-binding transcription factor; TGGCA-binding protein; nuclear factor 1 X-type isoform 3; nuclear factor 1 X-type; nuclear factor 1/X",
"tax_id": 9606,
"disease": "Marshall-Smith syndrome (Disease Ontology:DOID:0050858); Sotos syndrome 2 (Disease Ontology:DOID:0112102); Scheuermann's disease (Disease Ontology:DOID:13300)",
"pathway": " (hsa:4784); (R-HSA-73980); (R-HSA-749476)",
"pathway_count": 3,
"publication_count": 49,
"publication_id_list": "11118217;11237011;19690332;20673863;22301465;23186163;24275569;26193383;26200704;27600516;28228285;28657654;28832583;29242379;29393594;29557506;29786170;29789417;30379171;31375868;31844290;32157095;32357974;32387766;32488085;32938616;33537174;33592498;33968037;34185709;35051231;35318648;35580925;36010968;36284347;36901722;37336770;37713785;39014953;39135128;39534244;40307207;40596516;7590749;7937100;8035818;8308883;8799200;9660958",
"class_list": "",
"function": "A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome., [RefSeq, PubMed]; Circular RNA NFIX Functions as an Oncogene in Non-Small Cell Lung Cancer by Modulating the miR-214-3p/TRIAP1 Axis. Erratum:[Clin Respir J. 2025 Jun;19(6):e70096. doi: 10.1111/crj.70096. PMID: 40534563], [RefSeq, PubMed]; M6A-modified circNFIX promotes ovarian cancer progression and immune escape via activating IL-6R/JAK1/STAT3 signaling by sponging miR-647., [RefSeq, PubMed]; NFIXing Cancer: The Role of NFIX in Oxidative Stress Response and Cell Fate. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]; [NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review]. Review article, [RefSeq, PubMed]",
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"secondary_ac_list": "B4DM25;O60413;Q0VG09;Q12859;Q13050;Q13052;Q5U094;Q9UPH1;Q9Y6R8",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006260 DNA replication;GO:0006366 transcription by RNA polymerase II",
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},
{
"uniprot_canonical_ac": "P49279-1",
"uniprot_id": [
{
"id": "NRAM1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49279",
"type": "external"
}
],
"mass": 59872.0,
"length": 550,
"protein_name": "Natural resistance-associated macrophage protein 1",
"gene_name": "SLC11A1",
"organism": "Human",
"refseq_name": "natural resistance-associated macrophage protein 1",
"refseq_ac": [
{
"id": "NP_000569",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000569",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC11A1; LSH; NRAMP1; NRAMP",
"gene_names_refseq": "LSH; NRAMP1; NRAMP; SLC11A1",
"protein_names_uniprotkb": "Natural resistance-associated macrophage protein 1; NRAMP 1; Solute carrier family 11 member 1",
"protein_names_refseq": "Leishmaniasis resistance; NRAMP 1; natural resistance-associated macrophage protein 1; solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1; solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1; solute carrier family 11 (sodium/phosphate symporters), member 1",
"tax_id": 9606,
"disease": "Buruli ulcer disease (Disease Ontology:DOID:0050456); inflammatory bowel disease (Disease Ontology:DOID:0050589); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); leprosy (Disease Ontology:DOID:1024); urinary bladder cancer (Disease Ontology:DOID:11054); sarcoidosis (Disease Ontology:DOID:11335); iron deficiency anemia (Disease Ontology:DOID:11758); Behcet's disease (Disease Ontology:DOID:13241); multiple sclerosis (Disease Ontology:DOID:2377); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); rheumatoid arthritis (Disease Ontology:DOID:7148); gastrointestinal system disease (Disease Ontology:DOID:77); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111); visceral leishmaniasis (Disease Ontology:DOID:9146); type 1 diabetes mellitus (Disease Ontology:DOID:9744); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070); Buruli ulcer, susceptibility to (MONDO:MONDO:0012499)",
"pathway": " (hsa:6556); (R-HSA-1222556); (R-HSA-425410); (R-HSA-6798695); (R-HSA-6803544)",
"pathway_count": 5,
"publication_count": 69,
"publication_id_list": "10029572;10625641;10967134;11237011;11237855;11734551;11970843;15692071;15804357;16103355;16395392;16984228;17211682;17486601;17662945;17924679;19021540;19089323;19452451;20134026;21124855;22341971;22341972;22389498;23028306;23481700;23650620;24715725;25319704;26055706;26154972;26992070;27862975;2825632;2848506;29093164;29393594;29557506;29632711;29723216;29786170;30429286;30755481;31154438;31844290;31848261;32387766;32983136;33091337;33123756;33392160;33912179;34509645;35051231;35580925;36284347;37607533;37820457;37938771;38149545;38762191;38916380;7717395;7964458;7980580;8529098;8537108;8692836;9207117",
"class_list": "",
"function": "A Systemic Review and Meta-analysis on Natural Resistance-associated Macrophage Protein 1 (3'-Untranslated Region) and Nucleotide-binding Oligomerization Domain-2 (rs8057341) Polymorphisms and Leprosy Susceptibility in Asian and Caucasian Populations., [RefSeq, PubMed]; Macrophage-specific antiporter that fluxes metal ions in either direction against a proton gradient. Localized to late endosomal lysosomal membranes, delivers bivalent cations from the cytosol into these acidic compartments where they may directly affect antimicrobial activity (PubMed:11237855). Involved in iron metabolism and host natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes (Probable)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; SLC11A1 promotes kidney renal clear cell carcinoma (KIRC) progression by remodeling the tumor microenvironment., [RefSeq, PubMed]; Serum iron levels in tuberculosis patients and household contacts and its association with natural resistance-associated macrophage protein 1 polymorphism and expression., [RefSeq, PubMed]; Systemic assessment of solute carrier family 11-member A1 (rs17235409) gene polymorphism and Mycobacterium Tuberculosis Risk in Asian and caucasian population: A comprehensive updated meta-analysis., [RefSeq, PubMed]; The expression of Nramp1 modulates the uptake of Mycobacterium tuberculosis by macrophages through alternating inflammatory responses., [RefSeq, PubMed]; This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "C0H5Y3",
"ec_number_list": [],
"go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005384 manganese ion transmembrane transporter activity;GO:0046915 transition metal ion transmembrane transporter activity;GO:0051139 metal cation:proton antiporter activity;GO:0005381 iron ion transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0070821 tertiary granule membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane",
"go_biological_process": "GO:0034755 iron ion transmembrane transport;GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression;GO:0032496 response to lipopolysaccharide;GO:0045944 positive regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q12857-1",
"uniprot_id": [
{
"id": "NFIA_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q12857",
"type": "external"
}
],
"mass": 55944.0,
"length": 509,
"protein_name": "Nuclear factor 1 A-type",
"gene_name": "NFIA",
"organism": "Human",
"refseq_name": "nuclear factor 1 A-type isoform 1",
"refseq_ac": [
{
"id": "NP_001128145",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128145",
"type": "external"
}
],
"gene_names_uniprotkb": "NFIA; KIAA1439",
"gene_names_refseq": "BRMUTD; C1DELp32p31; CTF; DEL1P32P31; NF-I/A; NF1-A; NFI-A; NFI-L; NFIA",
"protein_names_uniprotkb": "Nuclear factor 1 A-type; CCAAT-box-binding transcription factor; CTF; NF-I/A; NF1-A; NFI-A; Nuclear factor 1/A; Nuclear factor I/A; TGGCA-binding protein",
"protein_names_refseq": "CCAAT-box-binding transcription factor; TGGCA-binding protein; nuclear factor 1 A-type isoform 1; nuclear factor 1 A-type",
"tax_id": 9606,
"disease": "NFIA-related disorder (Disease Ontology:DOID:0060409)",
"pathway": " (hsa:4774); (R-HSA-73980); (R-HSA-749476)",
"pathway_count": 3,
"publication_count": 53,
"publication_id_list": "10518556;11118217;11237011;15458926;18220336;18669648;19690332;20068231;23186163;24275569;24462883;24715725;25576301;27081522;28510447;29351928;29393594;29493099;29557506;30059200;30429286;30779550;31154438;31375868;31492838;31844290;31848261;32161166;33214551;33981976;34846842;35051231;35254053;35289036;35513511;35580925;35622109;35818636;37315400;37340703;37541260;37880726;38243303;38665916;39531497;39534244;40136647;40596516;41350704;7590749;8035818;8308883;9660958",
"class_list": "",
"function": "CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. Publication Status: Online-Only, [RefSeq, PubMed]; Cell-specific NFIA upregulation promotes epileptogenesis by TRPV4-mediated astrocyte reactivity. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of the Nfia gene in the mouse causes perinatal lethality, agenesis of the corpus callosum and hydrocephalus. Erratum:[Proc Natl Acad Sci U S A 2001 Mar 27;98(7):4276. Godinho F [corrected to Tolentino-Silva F]], [RefSeq, PubMed]; HIF-1alpha and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes., [RefSeq, PubMed]; Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role in the expression mechanism of hNaPi-IIb gene transcription., [RefSeq, PubMed]; SOX9/NFIA promotes human ovarian cancer metastasis through the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Spatial control of astrogenesis progression by cortical arealization genes., [RefSeq, PubMed]; This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]",
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"secondary_ac_list": "B4DRJ3;B4DS53;F5H0R0;F8W8W3;Q8TA97;Q9H3X9;Q9P2A9",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0000902 cell morphogenesis",
"synthesized_glycan_count": 0,
"hit_score": 8.7,
"record_id": "Q12857-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H649-1",
"uniprot_id": [
{
"id": "NSUN3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H649",
"type": "external"
}
],
"mass": 38244.0,
"length": 340,
"protein_name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
"gene_name": "NSUN3",
"organism": "Human",
"refseq_name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
"refseq_ac": [
{
"id": "NP_071355",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_071355",
"type": "external"
}
],
"gene_names_uniprotkb": "NSUN3; MSTP077; UG0651E06",
"gene_names_refseq": "COXPD48; MST077; MSTP077; NSUN3",
"protein_names_uniprotkb": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial; 2.1.1.-; NOL1/NOP2/Sun domain family member 3",
"protein_names_refseq": "NOL1/NOP2/Sun domain family member 3; NOP2/Sun RNA methyltransferase family member 3; putative methyltransferase NSUN3; tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
"tax_id": 9606,
"disease": "combined oxidative phosphorylation deficiency 48 (Disease Ontology:DOID:0112112)",
"pathway": " (hsa:63899)",
"pathway_count": 1,
"publication_count": 47,
"publication_id_list": "11237011;19240061;20068231;23481700;24715725;25418920;25576301;25892735;26154972;26929215;26992070;27214402;27356879;27497299;27600516;27846572;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29789417;30315122;30429286;31154438;31844290;32157095;32265295;32488845;32983136;33141586;33592498;33691108;33936100;34171305;34185709;34211107;34357683;34561969;34932366;35051231;35580925;35997137;36949224",
"class_list": "",
"function": "Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27356879, PubMed:27497299)., [UniProtKB, PubMed, PubMed, PubMed]; NSUN3-mediated mitochondrial tRNA 5-formylcytidine modification is essential for embryonic development and respiratory complexes in mice. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA 5-Methylcytosine Regulator NSUN3 promotes tumor progression through regulating immune infiltration in head and neck squamous cell carcinoma., [RefSeq, PubMed]; The NSUN3-knockout cells showed strong reduction in mitochondrial protein synthesis and reduced oxygen consumption, leading to deficient mitochondrial activity. It reconstituted formation of 5-methylcytidine (m(5)C) at position 34 (m(5)C34) on mt-tRNA(Met) with recombinant NSUN3 in the presence of AdoMet, demonstrating that NSUN3-mediated m(5)C34 formation initiates f(5)C34 biogenesis., [RefSeq, PubMed]; The authors show that the RNA methyltransferase NSUN3 localises to mitochondria and interacts with mt-tRNA(M)(et) to methylate cytosine 34 (C34) at the wobble position., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "Q6PG41;Q8IXG9;Q9H6M2",
"ec_number_list": [
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0016428 tRNA (cytidine-5-)-methyltransferase activity;GO:0000049 tRNA binding;GO:0008168 methyltransferase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix",
"go_biological_process": "GO:0031167 rRNA methylation;GO:0070129 regulation of mitochondrial translation;GO:0002127 tRNA wobble base cytosine methylation",
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"hit_score": 4.8,
"record_id": "Q9H649-1",
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"filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000",
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},
{
"uniprot_canonical_ac": "Q96LD8-1",
"uniprot_id": [
{
"id": "SENP8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LD8",
"type": "external"
}
],
"mass": 24107.0,
"length": 212,
"protein_name": "Sentrin-specific protease 8",
"gene_name": "SENP8",
"organism": "Human",
"refseq_name": "sentrin-specific protease 8",
"refseq_ac": [
{
"id": "NP_001159812",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159812",
"type": "external"
}
],
"gene_names_uniprotkb": "SENP8; DEN1; FKSG8; NEDP1; PRSC2",
"gene_names_refseq": "DEN1; NEDP1; PRSC2; SENP8",
"protein_names_uniprotkb": "Sentrin-specific protease 8; 3.4.22.-; Deneddylase-1; NEDD8-specific protease 1; Protease, cysteine 2; Sentrin/SUMO-specific protease SENP8",
"protein_names_refseq": "NEDD8 specific-protease cysteine 2; NEDD8-specific protease 1; SUMO sentrin specific protease family member 8; SUMO/sentrin peptidase family member, NEDD8 specific; SUMO/sentrin specific peptidase family member 8; deneddylase 1; protease, cysteine 2; sentrin-specific protease 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:123228); (R-HSA-5689603); (R-HSA-8951664)",
"pathway_count": 3,
"publication_count": 128,
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"class_list": "",
"function": "Furthermore, the authors characterized SENP8/DEN1 as the protease that counteracts Ubc12 auto-neddylation, and observed aberrant neddylation of Ubc12 and other NEDD8 conjugation pathway components in SENP8-deficient cells. Publication Status: Online-Only, [RefSeq, PubMed]; Impairment of NEDDylation by Ubc12 knockout enhances PCNA ubiquitination and promotes PCNA-poleta interaction, while up-regulation of NEDDylation by NEDD8 overexpression or NEDP1 deletion reduces the excessive accumulation of ubiquitinated PCNA. Moreover, Ubc12 knockout decreases cell sensitivity to H2O2-induced oxidative stress, but NEDP1 deletion aggravates this sensitivity, [RefSeq, PubMed]; NEDP1 is likely to play an important role in ubiquitin-mediated proteolysis by controlling the activity of SCF complexes, [RefSeq, PubMed]; Protease that catalyzes two essential functions in the NEDD8 pathway: processing of full-length NEDD8 to its mature form and deconjugation of NEDD8 from targeted proteins such as cullins or p53., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results suggest a unique role for NEDD8-specific protease 1(DEN1) in regulating the modification of cullin 1 by Nedd8 protein, [RefSeq, PubMed]; The Balance between Mono- and NEDD8-Chains Controlled by NEDP1 upon DNA Damage Is a Regulatory Module of the HSP70 ATPase Activity., [RefSeq, PubMed]; The expression of SENP8, SAE1, PIAS1, PIAS2 and ZMIZ1 is deregulated in the majority of PTC tissues, likely contributing to the PTC phenotype., [RefSeq, PubMed]; This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]., [RefSeq]; X-ray structures of the human Nedd8-specific protease, Den1, in a complex with the inhibitor Nedd8 aldehyde, thus revealing a model for the tetrahedral transition state intermediate generated during proteolysis, [RefSeq, PubMed]",
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{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "3.4.22.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-",
"type": "external"
}
],
"go_molecular_function": "GO:0019784 deNEDDylase activity;GO:0008234 cysteine-type peptidase activity",
"go_cellular_component": "GO:0005829 cytosol",
"go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0043687 post-translational protein modification;GO:0000338 protein deneddylation",
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},
{
"uniprot_canonical_ac": "Q8TD43-1",
"uniprot_id": [
{
"id": "TRPM4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TD43",
"type": "external"
}
],
"mass": 134301.0,
"length": 1214,
"protein_name": "Transient receptor potential cation channel subfamily M member 4",
"gene_name": "TRPM4",
"organism": "Human",
"refseq_name": "transient receptor potential cation channel subfamily M member 4 isoform 2",
"refseq_ac": [
{
"id": "NP_001182156",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182156",
"type": "external"
}
],
"gene_names_uniprotkb": "TRPM4; LTRPC4",
"gene_names_refseq": "EKVP6; LTrpC4; PFHB1B; TRPM4B; TRPM4; hTRPM4",
"protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 4; Calcium-activated non-selective cation channel 1; LTrpC-4; LTrpC4; Long transient receptor potential channel 4; Melastatin-4; hTRPM4",
"protein_names_refseq": "calcium-activated non-selective cation channel 1; long transient receptor potential channel 4; melastatin-4; transient receptor potential cation channel subfamily M member 4 isoform 2",
"tax_id": 9606,
"disease": "cardiac arrest (Disease Ontology:DOID:0060319); erythrokeratodermia variabilis et progressiva 6 (Disease Ontology:DOID:0080766); progressive familial heart block type IB (Disease Ontology:DOID:0111076)",
"pathway": " (hsa:54795); (R-HSA-3295583); (R-HSA-9717207)",
"pathway_count": 3,
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"publication_id_list": "10761935;11050376;11226139;11237011;11243859;11301059;11535825;11917125;12015988;12799367;12842017;1325650;1422598;14634208;14758478;15121803;15331675;15353592;15385606;15472118;15550671;15590641;15738140;15845551;16186107;16407466;16424899;16777713;16806463;17167479;17506496;19104071;19413330;19696921;19726882;19945433;20022913;20025796;20033988;20562447;20625999;20656926;20716668;21422378;21795555;21887725;23632330;24157691;24214976;24360415;24605085;24633359;25231975;25389312;25765567;25853419;25855297;26377607;26992070;28256214;29211723;29217581;29466837;29557506;29659026;29744740;30013099;30528822;30563861;32350084;32387766;32938616;33592498;33912179;34185709;35051231;35251023;36010968;37037835;37128952;37511555;38103473;38750366;7720699;8288584;9065781",
"class_list": "",
"function": "Calcium-activated selective cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:12842017, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane (PubMed:12015988). It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Plays a role in keratinocyte differentiation (PubMed:30528822)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Exploring the role of TRPM4 in calcium-dependent triggered activity and cardiac arrhythmias. Review article, [RefSeq, PubMed]; Influence of TRPM4 rs8104571 genotype on intracranial pressure and outcomes in African Americans with traumatic brain injury. Publication Status: Online-Only, [RefSeq, PubMed]; Lacks channel activity., [UniProtKB, PubMed]; TRPM4-mediated depolarization modulates Ca2+ oscillations, with downstream effects on cytokine production in T lymphocytes, [RefSeq, PubMed]; The Role of TRPM4 in Cardiac Electrophysiology and Arrhythmogenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]., [RefSeq]; Transient receptor potential channel TRPM4 favors oxidized low-density lipoprotein-induced coronary endothelial cell dysfunction via a mechanism involving ferroptosis., [RefSeq, PubMed]; Voltage dependence is not due to block by divalent cations or to voltage-dependent binding of intracellular Ca2+ to an activator site, indicating that TRPM4 is a transient receptor potential channel with an intrinsic voltage-sensing mechanism., [RefSeq, PubMed]",
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"ec_number_list": [
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
}
],
"go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body",
"go_biological_process": "GO:0086048 membrane depolarization during bundle of His cell action potential;GO:1904179 positive regulation of adipose tissue development;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0008284 positive regulation of cell population proliferation;GO:0016925 protein sumoylation",
"synthesized_glycan_count": 0,
"hit_score": 8.8,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q70EL2-1",
"uniprot_id": [
{
"id": "UBP45_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q70EL2",
"type": "external"
}
],
"mass": 91733.0,
"length": 814,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 45",
"gene_name": "USP45",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 45 isoform a",
"refseq_ac": [
{
"id": "NP_001073950",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073950",
"type": "external"
}
],
"gene_names_uniprotkb": "USP45",
"gene_names_refseq": "LCA19; USP45",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 45; 3.4.19.12; Deubiquitinating enzyme 45; Ubiquitin thioesterase 45; Ubiquitin-specific-processing protease 45",
"protein_names_refseq": "deubiquitinating enzyme 45; ubiquitin carboxyl-terminal hydrolase 45 isoform a; ubiquitin carboxyl-terminal hydrolase 45; ubiquitin specific protease 45; ubiquitin thioesterase 45; ubiquitin thiolesterase 45; ubiquitin-specific-processing protease 45",
"tax_id": 9606,
"disease": "Leber congenital amaurosis 19 (Disease Ontology:DOID:0081169)",
"pathway": " (hsa:85015); (R-HSA-5696395)",
"pathway_count": 2,
"publication_count": 63,
"publication_id_list": "10526214;10734143;11007478;11141066;11237011;11278856;11511374;12080057;14517266;14715245;15220921;15590680;16030353;16491090;17000769;17466625;17466626;17948053;18614043;19056823;19661379;19713942;19940136;19941824;20368362;20876134;22081108;23038248;23045548;23352696;23481700;23751493;24715725;25154395;25538220;26042670;26151477;27600516;27846572;28904123;29485866;30258100;30429286;30573563;31217245;31844290;32157095;32161166;32938616;33298915;33912179;33936100;33968037;35051231;36241641;37217939;7559382;7700386;8692841;9130708;9699634;9716411;9771713",
"class_list": "",
"function": "Catalyzes the deubiquitination of SPDL1 (PubMed:30258100). Plays a role in the repair of UV-induced DNA damage via deubiquitination of ERCC1, promoting its recruitment to DNA damage sites (PubMed:25538220). May be involved in the maintenance of photoreceptor function (PubMed:30573563). May play a role in normal retinal development (By similarity). Plays a role in cell migration (PubMed:30258100)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Our study implicates that biallelic mutations in USP45 are associated with the occurrence of LCA. Moreover, our results indicate that USP45 is indispensable to the maintenance of photoreceptor function., [RefSeq, PubMed]; The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]., [RefSeq]; These results establish USP45 as a new regulator of XPF-ERCC1 crucial for efficient DNA repair, [RefSeq, PubMed]; Using mass spectrometry this study identified CCDC99 as a new target of USP45. The data showed that CCDC99 and USP45 are part of the same complex and that their interaction specifically depends on the catalytic activity of USP45. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B2RXG0;Q5T062;Q86T44;Q86TC0;Q9BRU1",
"ec_number_list": [
{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001917 photoreceptor inner segment",
"go_biological_process": "GO:0003407 neural retina development;GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0016477 cell migration;GO:0016579 protein deubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 6.6,
"record_id": "Q70EL2-1",
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},
{
"uniprot_canonical_ac": "Q68D85-1",
"uniprot_id": [
{
"id": "NR3L1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q68D85",
"type": "external"
}
],
"mass": 50827.0,
"length": 454,
"protein_name": "Natural cytotoxicity triggering receptor 3 ligand 1",
"gene_name": "NCR3LG1",
"organism": "Human",
"refseq_name": "natural cytotoxicity triggering receptor 3 ligand 1 precursor",
"refseq_ac": [
{
"id": "NP_001189368",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189368",
"type": "external"
}
],
"gene_names_uniprotkb": "NCR3LG1; B7H6",
"gene_names_refseq": "B7-H6; B7H6; DKFZp686O24166; NCR3LG1",
"protein_names_uniprotkb": "Natural cytotoxicity triggering receptor 3 ligand 1; B7 homolog 6; B7-H6",
"protein_names_refseq": "B7 homolog 6; natural cytotoxicity triggering receptor 3 ligand 1 precursor; natural cytotoxicity triggering receptor 3 ligand 1; putative Ig-like domain-containing protein DKFZp686O24166/DKFZp686I21167",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:374383); (R-HSA-198933)",
"pathway_count": 2,
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"publication_id_list": "10.1101/2023.09.13.557529;10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19528259;19592130;20730098;21241660;21422170;21800138;21841309;21877119;22396535;23090970;23695528;23929856;24190977;24305946;25703557;25716998;26284469;26300885;26992070;28834231;29393594;31611695;31844290;32125861;32161166;32350084;32387766;32488085;32897882;32983136;33392160;33671836;33824367;33936100;34171305;34280008;34509645;35051231;35251023;35580925;36692844;37053079;38253038;40596516;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896",
"class_list": "",
"function": "B7-H6 as a Diagnostic Biomarker for Cervical Squamous Cell Carcinoma., [RefSeq, PubMed]; B7-H6 enhances F-actin rearrangement by targeting c-MYC activation to promote medulloblastoma migration and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]., [RefSeq]; B7H6 silencing increases chemosensitivity to dacarbazine and suppresses cell survival and migration in cutaneous melanoma., [RefSeq, PubMed]; DKFZp686O24166 was designated the gene B7-H6; identification as a tumor cell surface molecule that binds NKp30, a receptor which triggers antitumor NK cell cytotoxicity and cytokine secretion, [RefSeq, PubMed]; Immune checkpoint molecules B7-H6 and PD-L1 co-pattern the tumor inflammatory microenvironment in human breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in Contrast to BAG6 Only Marginally Released via Extracellular Vesicles. Publication Status: Online-Only, [RefSeq, PubMed]; The NKp30-B7-H6 structure revealed that this NK cell activating complex is distinct from the CTLA4-B7 and PD-1-PD-L T cell inhibitory complexes in both overall organization and detailed atomic interactions that mediate binding and specificity., [RefSeq, PubMed]; Triggers NCR3-dependent natural killer cell activation., [UniProtKB, PubMed]",
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"disease_count": 0,
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"secondary_ac_list": "Q7Z3M6",
"ec_number_list": [],
"go_molecular_function": "GO:0048018 receptor ligand activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0051132 NK T cell activation",
"synthesized_glycan_count": 0,
"hit_score": 12.3,
"record_id": "Q68D85-1",
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"filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y666-1",
"uniprot_id": [
{
"id": "S12A7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y666",
"type": "external"
}
],
"mass": 119106.0,
"length": 1083,
"protein_name": "Solute carrier family 12 member 7",
"gene_name": "SLC12A7",
"organism": "Human",
"refseq_name": "solute carrier family 12 member 7",
"refseq_ac": [
{
"id": "NP_006589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006589",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC12A7; KCC4",
"gene_names_refseq": "KCC4; SLC12A7",
"protein_names_uniprotkb": "Solute carrier family 12 member 7; Electroneutral potassium-chloride cotransporter 4; K-Cl cotransporter 4",
"protein_names_refseq": "K-Cl cotransporter 4; SUCO/SLC12A7 fusion; electroneutral potassium-chloride cotransporter 4; potassium/chloride transporter KCC4; solute carrier family 12 (potassium/chloride transporter), member 7; solute carrier family 12 (potassium/chloride transporters), member 7; solute carrier family 12 member 7",
"tax_id": 9606,
"disease": "epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:10723); (R-HSA-426117)",
"pathway_count": 2,
"publication_count": 59,
"publication_id_list": "10.1101/2023.09.13.557529;10347194;10600773;10913127;11214971;11237011;11976689;12106695;12368912;12637262;13785791;18669648;18767875;19664994;19690332;20068231;21613606;24190977;24275569;24714562;25502872;25576301;26992070;29242379;29314611;29557506;29741879;29884238;30524438;30626607;31034883;31154438;31393094;31844290;31848261;32161166;32350084;32387766;32897882;32938616;32983136;33310850;33968037;33981976;34171305;34725712;34932366;35051231;35154160;35251023;35580925;36241641;37074911;41018975;7629105;8528245;8640224;8663127;8812482",
"class_list": "",
"function": "Human osteoblasts express functional K-Cl cotransporters in their cell membrane that seem to be able to induce the indirect activation of volume-sensitive Cl- channels by KCl through an increase in the intracellular ions, water influx and cell swelling., [RefSeq, PubMed]; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10913127). May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity)., [UniProtKB, PubMed]; Mice lacking SLC12A7 function suffer from deafness and renal metabolic acidosis. The phenotype suggests a function in inner ear potassium recycling. A function in the proton secreting alpha-intercalating cells of the kidney is shown., [RefSeq, PubMed]; SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus., [RefSeq, PubMed]; SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior Publication Status: Online-Only, [RefSeq, PubMed]; The IGF1 gene was amplified in 9 of 19 ACC samples, similar to findings in The Cancer Genome Atlas database. The IGF1 overexpression was observed in 5 samples and was associated with SLC12A7 overexpression and non-functional, early-stage tumors (p < 0.05). endogenous overexpression and silencing of SLC12A7 significantly altered IGF1 and IGF1R expression without impacting other IGFs., [RefSeq, PubMed]",
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"secondary_ac_list": "A6NDS8;Q4G0F3;Q96I81;Q9H7I3;Q9H7I7;Q9UFW2",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding;GO:0015379 potassium:chloride symporter activity;GO:0015377 chloride:monoatomic cation symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0032991 protein-containing complex;GO:0016020 membrane",
"go_biological_process": "GO:0071333 cellular response to glucose stimulus;GO:0007268 chemical synaptic transmission;GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport;GO:0055075 potassium ion homeostasis",
"synthesized_glycan_count": 0,
"hit_score": 7.0,
"record_id": "Q9Y666-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H7Z3-1",
"uniprot_id": [
{
"id": "NRDE2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H7Z3",
"type": "external"
}
],
"mass": 132673.0,
"length": 1164,
"protein_name": "Nuclear exosome regulator NRDE2",
"gene_name": "NRDE2",
"organism": "Human",
"refseq_name": "nuclear exosome regulator NRDE2",
"refseq_ac": [
{
"id": "NP_060440",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060440",
"type": "external"
}
],
"gene_names_uniprotkb": "NRDE2; C14orf102",
"gene_names_refseq": "C14orf102; NRDE2",
"protein_names_uniprotkb": "Nuclear exosome regulator NRDE2; Protein NRDE2 homolog",
"protein_names_refseq": "UPF0614 protein C14orf102; nuclear exosome regulator NRDE2; protein NRDE2 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55051)",
"pathway_count": 1,
"publication_count": 44,
"publication_id_list": "11237011;22223895;23481700;25892735;26154972;26992070;27846572;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;29786170;29902117;30315122;30410026;30429286;30538148;30842217;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33912179;33968037;34171305;34185709;35051231;35494241;35580925;37217939;38697125",
"class_list": "",
"function": "NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors., [RefSeq, PubMed]; NRDE2 interacts with MTR4's key residues, locks MTR4 in a closed conformation, and inhibits MTR4 interaction with the exosome as well as proteins important for MTR4 recruitment, [RefSeq, PubMed]; Our work establishes a conserved role for human NRDE2 in RNA splicing, characterizes the severe genomic instability phenotypes observed upon loss of NRDE2, and highlights the direct regulation of CEP131 splicing as one of multiple mechanisms through which such phenotypes might be explained., [RefSeq, PubMed]; Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation (PubMed:30842217). Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation (PubMed:30842217). Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome (PubMed:30842217). By preventing the degradation of RNAs in the nucleus, it promotes their export to the cytoplasm (PubMed:30842217). U5 snRNP-associated RNA splicing factor which is required for efficient splicing of CEP131 pre-mRNA and plays an important role in centrosome maturation, integrity and function during mitosis (PubMed:30538148). Suppresses intron retention in a subset of pre-mRNAs containing short, GC-rich introns with relatively weak 5' and 3' splice sites (PubMed:30538148). Plays a role in DNA damage response (PubMed:29902117)., [UniProtKB, PubMed, PubMed, PubMed]; This study found that Mtr4 association with the human homolog of fission yeast Nrl1, NRDE-2, defines a novel function for Mtr4 in the DNA damage response pathway., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DH71;Q4G0A7;Q9NWH6",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0016607 nuclear speck",
"go_biological_process": "GO:0046833 positive regulation of RNA export from nucleus;GO:0000278 mitotic cell cycle;GO:0006397 mRNA processing;GO:0048255 mRNA stabilization;GO:0051301 cell division",
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"hit_score": 4.7,
"record_id": "Q9H7Z3-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NFP9-1",
"uniprot_id": [
{
"id": "NBEA_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NFP9",
"type": "external"
}
],
"mass": 327822.0,
"length": 2946,
"protein_name": "Neurobeachin",
"gene_name": "NBEA",
"organism": "Human",
"refseq_name": "neurobeachin isoform 2",
"refseq_ac": [
{
"id": "NP_001191126",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191126",
"type": "external"
}
],
"gene_names_uniprotkb": "NBEA; BCL8B; KIAA1544; LYST2",
"gene_names_refseq": "BCL8B; LYST2; NBEA; NEDEGE",
"protein_names_uniprotkb": "Neurobeachin; Lysosomal-trafficking regulator 2; Protein BCL8B",
"protein_names_refseq": "lysosomal-trafficking regulator 2; neurobeachin isoform 2",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); stomach cancer (Disease Ontology:DOID:10534); neurodevelopmental disorder with or without early-onset generalized epilepsy (MONDO:MONDO:0030930)",
"pathway": " (hsa:26960); (R-HSA-112314); (R-HSA-163615); (R-HSA-2122947); (R-HSA-9609736)",
"pathway_count": 5,
"publication_count": 103,
"publication_id_list": "10.1101/2023.09.13.557529;10075700;10713164;10964718;11044625;11237011;11461910;11485506;11585921;12050117;12160729;12234919;12391150;12532186;12746398;1387926;14980219;15107403;15546612;16116092;16256737;16389408;16530044;16613843;17114293;17392525;17652911;17855605;17997397;18094723;18374649;18761359;20844345;20972443;21180598;2155780;22993341;23481700;24714562;25323946;25333367;25451450;25645385;25892735;25949526;26238288;28218747;28228285;28291778;28514659;28657654;28832583;28904123;29393594;29557506;29763014;29769354;29774051;29786170;30269351;30315122;30484775;30590034;30833945;31217245;31277774;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33633747;33692494;33717175;33912179;33968037;33981976;34171305;34509645;34932366;35051231;36010968;37938771;7507039;7565620;7566092;7588063;7691500;8001118;8649374;8687460;8717357;9677400;9694793;9950429",
"class_list": "",
"function": "Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity)., [UniProtKB]; Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA., [RefSeq, PubMed]; NBEA encodes neurobeachin: we found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder., [RefSeq, PubMed]; Neurobeachin encoding gene is disrupted in a patient with a de novo translocation t(5;13) (q12.1;q13.2), idiopathic autism, and no family history of autism, [RefSeq, PubMed]; Our study suggests that rs180940944 (NBEA) is associated with an increased Non-muscle-invasive Bladder Cancer tumour size at the time of diagnosis, [RefSeq, PubMed]; Structural analysis and biochemical studies show that the PH and BEACH domains have strong interactions, suggesting they may function as a single unit., [RefSeq, PubMed]; This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]., [RefSeq]; We identified 24 de novo NBEA variants in patients with neurodevelopmental disease, establishing NBEA as an neurodevelopmental disease gene, [RefSeq, PubMed]",
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"secondary_ac_list": "B7Z2H9;Q5T320;Q9HCM8;Q9NSU1;Q9NW98;Q9Y6J1",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system;GO:0005802 trans-Golgi network",
"go_biological_process": "GO:0050808 synapse organization;GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane",
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"record_id": "Q8NFP9-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q15155-1",
"uniprot_id": [
{
"id": "NOMO1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15155",
"type": "external"
}
],
"mass": 134324.0,
"length": 1222,
"protein_name": "BOS complex subunit NOMO1",
"gene_name": "NOMO1",
"organism": "Human",
"refseq_name": "nodal modulator 1 precursor",
"refseq_ac": [
{
"id": "NP_055102",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055102",
"type": "external"
}
],
"gene_names_uniprotkb": "NOMO1; PM5",
"gene_names_refseq": "NOMO1; Nomo; PM5",
"protein_names_uniprotkb": "BOS complex subunit NOMO1; Nodal modulator 1; pM5 protein",
"protein_names_refseq": "nodal modulator 1 precursor; nodal modulator 3; pM5 protein 3; pM5 protein, telomeric copy",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23420)",
"pathway_count": 1,
"publication_count": 77,
"publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10835642;11139250;11237011;11875071;12042320;1310294;15104674;16115862;17261586;17308301;19159218;20068231;20112406;20538592;23090970;24190977;25469497;25505266;25645385;26154972;26754738;28416736;28510447;28904123;29393594;29557506;29632046;29741879;29786170;30315122;30410026;30429286;30484775;30833945;31020640;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32387766;32820719;32897882;32938616;32983136;33091337;33214551;33392160;33691108;33968037;33981976;34019948;34078123;34087483;34089345;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36261522;36284347",
"class_list": "",
"function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Microsatellite-Stable (MSS) CRC showed a very high proportion of homozygous loss of NOMO1 (54 of 59 cases, 91.5%), while the deletion was observed in only 7 out of 16 MSI cases. Deletion of NOMO1 is a molecular marker predominantly associated with CRC, particularly MSS subtypes., [RefSeq, PubMed]; This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "P78421;Q8IW21;Q96DG0",
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"go_molecular_function": "GO:0030246 carbohydrate binding;GO:0043022 ribosome binding",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0160064 multi-pass translocon complex",
"go_biological_process": "GO:0160063 multi-pass transmembrane protein insertion into ER membrane",
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},
{
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{
"id": "S6A13_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NSD5",
"type": "external"
}
],
"mass": 68009.0,
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"protein_name": "Sodium- and chloride-dependent GABA transporter 2",
"gene_name": "SLC6A13",
"organism": "Human",
"refseq_name": "sodium- and chloride-dependent GABA transporter 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001177926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177926",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC6A13; GAT2",
"gene_names_refseq": "GAT-2; GAT2; GAT3; SLC6A13",
"protein_names_uniprotkb": "Sodium- and chloride-dependent GABA transporter 2; GAT-2; Solute carrier family 6 member 13",
"protein_names_refseq": "GABA transport protein; sodium- and chloride-dependent GABA transporter 2 isoform 2; sodium- and chloride-dependent GABA transporter 2; solute carrier family 6 (neurotransmitter transporter), member 13; solute carrier family 6 (neurotransmitter transporter, GABA), member 13",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6540); (R-HSA-442660); (R-HSA-888593)",
"pathway_count": 3,
"publication_count": 36,
"publication_id_list": "10446133;10684912;10889531;10973981;11237011;11698620;11824941;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;17502375;17726476;18599538;19450549;2008212;22932902;2387399;29557506;30429286;32938616;33968037;35051231;36215666;38780447;7651355;7874447;8125921;8183239;8632143;9845349",
"class_list": "",
"function": "Homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations., [RefSeq, PubMed]; Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:17502375, PubMed:22932902). Mediates transport of beta-alanine (PubMed:17502375). Can also mediate transport of taurine and hypotaurine (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Results suggest that gamma-aminobutyric acid transporter 2 GAT-2 is a high selectivity/low affinity transporter., [RefSeq, PubMed]; Transcription factor ASCL1 targets SLC6A13 to inhibit the progression of hepatocellular carcinoma via the glycine-inflammasome signaling. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 2,
"predicted_n_glycosites": 2,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 0,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 2,
"reported_mutagensis": 6,
"reported_glycation": 0,
"reported_snv": 22,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 2,
"binding_glycan_count": 0,
"secondary_ac_list": "B4DJL1;Q8TCC2;Q8WW56",
"ec_number_list": [],
"go_molecular_function": "GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0005283 amino acid:sodium symporter activity;GO:0005369 taurine:sodium symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0042995 cell projection",
"go_biological_process": "GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0015734 taurine transmembrane transport;GO:0015881 creatine transmembrane transport;GO:0051939 gamma-aminobutyric acid import",
"synthesized_glycan_count": 0,
"hit_score": 3.7,
"record_id": "Q9NSD5-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0000000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O14562-1",
"uniprot_id": [
{
"id": "UBFD1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14562",
"type": "external"
}
],
"mass": 33382.0,
"length": 309,
"protein_name": "Ubiquitin domain-containing protein UBFD1",
"gene_name": "UBFD1",
"organism": "Human",
"refseq_name": "ubiquitin domain-containing protein UBFD1",
"refseq_ac": [
{
"id": "NP_061989",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061989",
"type": "external"
}
],
"gene_names_uniprotkb": "UBFD1; UBPH",
"gene_names_refseq": "UBFD1; UBPH",
"protein_names_uniprotkb": "Ubiquitin domain-containing protein UBFD1; Ubiquitin-binding protein homolog",
"protein_names_refseq": "ubiquitin domain-containing protein UBFD1; ubiquitin-binding protein homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:56061)",
"pathway_count": 1,
"publication_count": 31,
"publication_id_list": "11237011;19285159;20068231;23301498;24366607;25576301;25645385;26154972;26375851;26992070;27920218;28218747;28228285;28510447;28832583;29242379;29393594;29437277;29557506;29786170;30315122;31844290;32161166;33691108;33912179;33936100;33968037;34171305;34211107;35051231;35580925",
"class_list": "",
"function": "May play a role as NF-kappa-B regulator., [UniProtKB, PubMed]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 1,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
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"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 1,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "A8MW58;D3DWF2",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding",
"go_cellular_component": "",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 3.4,
"record_id": "O14562-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O00124-1",
"uniprot_id": [
{
"id": "UBXN8_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00124",
"type": "external"
}
],
"mass": 30541.0,
"length": 270,
"protein_name": "UBX domain-containing protein 8",
"gene_name": "UBXN8",
"organism": "Human",
"refseq_name": "UBX domain-containing protein 8 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001269118",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269118",
"type": "external"
}
],
"gene_names_uniprotkb": "UBXN8; D8S2298E; REP8; UBXD6",
"gene_names_refseq": "D8S2298E; REP8; UBXD6; UBXN8",
"protein_names_uniprotkb": "UBX domain-containing protein 8; Rep-8 protein; Reproduction 8 protein; UBX domain-containing protein 6",
"protein_names_refseq": "Reproduction/chromosome 8; UBX domain-containing protein 6; UBX domain-containing protein 8 isoform 2 precursor; UBX domain-containing protein 8; rep-8 protein; reproduction 8 protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7993)",
"pathway_count": 1,
"publication_count": 31,
"publication_id_list": "11237011;18669648;18691976;20068231;21949850;25576301;26811146;27600516;28832583;28904123;29242379;29786170;30315122;30429286;31154438;31611695;31844290;32350084;32387766;32488085;32897882;32938616;32983136;33392160;34509645;34921223;35051231;35251023;35561310;35580925;9027507",
"class_list": "",
"function": "Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia., [RefSeq, PubMed]; Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
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"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
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"reported_phosphosites": 2,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 0,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q7Z6F2",
"ec_number_list": [],
"go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0043130 ubiquitin binding;GO:0003964 RNA-directed DNA polymerase activity;GO:0003676 nucleic acid binding;GO:0004523 RNA-DNA hybrid ribonuclease activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0000151 ubiquitin ligase complex",
"go_biological_process": "GO:0007338 single fertilization;GO:0036503 ERAD pathway;GO:0006261 DNA-templated DNA replication",
"synthesized_glycan_count": 0,
"hit_score": 3.2,
"record_id": "O00124-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96FL8-1",
"uniprot_id": [
{
"id": "S47A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96FL8",
"type": "external"
}
],
"mass": 61922.0,
"length": 570,
"protein_name": "Multidrug and toxin extrusion protein 1",
"gene_name": "SLC47A1",
"organism": "Human",
"refseq_name": "multidrug and toxin extrusion protein 1",
"refseq_ac": [
{
"id": "NP_060712",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060712",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC47A1; MATE1",
"gene_names_refseq": "MATE1; SLC47A1",
"protein_names_uniprotkb": "Multidrug and toxin extrusion protein 1; MATE-1; Solute carrier family 47 member 1; hMATE-1",
"protein_names_refseq": "MATE-1; hMATE-1; multidrug and toxin extrusion 1; multidrug and toxin extrusion protein 1; solute carrier family 47 (multidrug and toxin extrusion), member 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55244); (R-HSA-549127)",
"pathway_count": 2,
"publication_count": 56,
"publication_id_list": "10072434;10196521;10966924;11237011;12089149;12372408;12384147;14608356;14674884;15107849;15184985;15795384;16330770;16641166;16788146;16807400;16914559;17047166;17495125;17509534;17582384;18305230;19158817;21128598;24961373;25645385;26522469;26979622;27846572;29242379;29393594;29786170;30429286;31154438;31848261;32157095;32161166;32387766;32708212;33592498;33968037;35051231;35163393;35307651;35580925;36010968;36215666;36575162;36786075;7989337;8647271;9260930;9520460;9655880;9685390;9744804",
"class_list": "",
"function": "An oppositely directed H(+) gradient serves as a driving force of tetraethylammonium transport via rMATE1, [RefSeq, PubMed]; MATE1 appears to be the long searched for polyspecific organic cation exporter that directly transports toxic organic cations into urine and bile., [RefSeq, PubMed]; Multidrug efflux pump that functions as a H(+)/organic cation antiporter (PubMed:16330770, PubMed:17509534). Plays a physiological role in the excretion of cationic compounds including endogenous metabolites, drugs, toxins through the kidney and liver, into urine and bile respectively (PubMed:16330770, PubMed:17495125, PubMed:17509534, PubMed:17582384, PubMed:18305230, PubMed:19158817, PubMed:21128598, PubMed:24961373). Mediates the efflux of endogenous compounds such as creatinine, vitamin B1/thiamine, agmatine and estrone-3-sulfate (PubMed:16330770, PubMed:17495125, PubMed:17509534, PubMed:17582384, PubMed:18305230, PubMed:19158817, PubMed:21128598, PubMed:24961373). May also contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Rapid Regulation of Human Multidrug and Extrusion Transporters hMATE1 and hMATE2K. Publication Status: Online-Only, [RefSeq, PubMed]; The association study between changes in HbA1C with rs2250486 and rs67238751 genetic variants for SLC47A1 in newly diagnosed Iranian patients with type 2 diabetes mellitus: 6 months follow-up study., [RefSeq, PubMed]; The lipid flippase SLC47A1 blocks metabolic vulnerability to ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]., [RefSeq]; Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
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"reported_s_glycosites": 0,
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"total_reported_c_glycosites": 0,
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"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 0,
"reported_mutagensis": 10,
"reported_glycation": 0,
"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q53HF5;Q6PD77;Q86VL4;Q9NVA3",
"ec_number_list": [],
"go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0015234 thiamine transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0015695 organic cation transport;GO:1902475 L-alpha-amino acid transmembrane transport;GO:0006855 xenobiotic transmembrane transport;GO:0015837 amine transport;GO:0097638 L-arginine import across plasma membrane",
"synthesized_glycan_count": 0,
"hit_score": 5.7,
"record_id": "Q96FL8-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P78383-1",
"uniprot_id": [
{
"id": "S35B1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P78383",
"type": "external"
}
],
"mass": 35760.0,
"length": 322,
"protein_name": "Solute carrier family 35 member B1",
"gene_name": "SLC35B1",
"organism": "Human",
"refseq_name": "solute carrier family 35 member B1 isoform 1",
"refseq_ac": [
{
"id": "NP_005818",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005818",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC35B1; UGTREL1",
"gene_names_refseq": "AXER; SLC35B1; UGTREL1",
"protein_names_uniprotkb": "Solute carrier family 35 member B1; ATP/ADP exchanger ER; AXER; Endoplasmic reticulum ATP/ADP translocase; UDP-galactose transporter-related protein 1; UGTrel1",
"protein_names_refseq": "ATP/ADP exchanger ER; ATP/ADP exchanger in the ER membrane; UDP-galactose transporter related; UDP-galactose transporter-related protein 1; endoplasmic reticulum ATP/ADP translocase; solute carrier family 35 member B1 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10237)",
"pathway_count": 1,
"publication_count": 35,
"publication_id_list": "11237011;24715725;25576301;25645385;26992070;28228285;28514659;28832583;28834231;28904123;29242379;29331515;30154480;30484775;31844290;32157095;32179043;32357974;32488085;32938616;33298915;33392160;33537174;33592498;33691108;33968037;33981976;34932366;35041824;35051231;35580925;36010968;37938771;40399679;9010752",
"class_list": "glycogene",
"function": "ATP:ADP antiporter that catalyzes the exchange of ATP and ADP across the endoplasmic reticulum (ER) membrane (PubMed:30154480, PubMed:35041824, PubMed:40399679). Imports ATP from the cytosol to the ER lumen and exports ADP in the opposite direction (PubMed:30154480, PubMed:35041824, PubMed:40399679). Regulates ER energy metabolism and protein biogenesis (PubMed:30154480). Appears to be part of a calcium-dependent ER to cytosol low energy response axis, where calcium efflux from ER to the cytosol triggers ATP import into the ER lumen to maintain sufficient ATP supply (PubMed:30154480). Provides ATP to ER chaperone HSPA5 that drives protein folding and trafficking in the ER (PubMed:30154480, PubMed:35041824). Can transport dATP, UTP or UDP in exchange for ATP, but the physiological relevance of this process remains to be established (PubMed:30154480, PubMed:35041824)., [UniProtKB, PubMed, PubMed, PubMed]; ATP:ADP antiporter., [UniProtKB, PubMed, PubMed, PubMed]; SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases., [RefSeq, PubMed]; The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane., [RefSeq, PubMed]; This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
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"mined_n_glycosites": 0,
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"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
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"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_reported_c_glycosites": 0,
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"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
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"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 0,
"reported_mutagensis": 11,
"reported_glycation": 0,
"reported_snv": 379,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B4DEC4;J3KQV4;Q96EW7",
"ec_number_list": [],
"go_molecular_function": "GO:0005471 ATP:ADP antiporter activity;GO:0005459 UDP-galactose transmembrane transporter activity;GO:0005460 UDP-glucose transmembrane transporter activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0072334 UDP-galactose transmembrane transport;GO:0055085 transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 3.6,
"record_id": "P78383-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P52948-1",
"uniprot_id": [
{
"id": "NUP98_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52948",
"type": "external"
}
],
"mass": 197579.0,
"length": 1817,
"protein_name": "Nuclear pore complex protein Nup98-Nup96",
"gene_name": "NUP98",
"organism": "Human",
"refseq_name": "nuclear pore complex protein Nup98 isoform 3 precursor",
"refseq_ac": [
{
"id": "NP_005378",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005378",
"type": "external"
}
],
"gene_names_uniprotkb": "NUP98; ADAR2",
"gene_names_refseq": "ADIR2; NUP196; NUP96; NUP98; Nup98-96",
"protein_names_uniprotkb": "Nuclear pore complex protein Nup98-Nup96; 3.4.21.-; 96 kDa nucleoporin; 98 kDa nucleoporin; Nucleoporin Nup96; Nucleoporin Nup98; Nup96; Nup98",
"protein_names_refseq": "GLFG-repeat containing nucleoporin; NUP98/PHF23 fusion 2 protein; Nup98-Nup96; nuclear pore complex protein Nup98 isoform 3 precursor; nuclear pore complex protein Nup98-Nup96; nucleoporin 96; nucleoporin 98kDa; nucleoporin 98kD",
"tax_id": 9606,
"disease": "T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); acute myeloid leukemia (Disease Ontology:DOID:9119)",
"pathway": " (hsa:4928)",
"pathway_count": 1,
"publication_count": 168,
"publication_id_list": "10.1101/2023.09.13.557529;10087256;10209021;10477737;10556215;10929031;11106761;11237011;11493482;11684705;11839768;11950939;11986249;12191480;12802065;15229283;15725483;16028218;16419055;16467868;16959974;16964243;17081983;17287853;18220336;18287282;18318008;18669648;18691976;19608861;19690332;20068230;20068231;20305658;20407419;20498086;21136679;21335236;21406692;21740066;21948299;22058212;22121020;23186163;23301498;23481700;23523133;23531517;23783831;24275569;24714562;24715725;25418920;25576301;25645385;25810538;25892735;26154972;26375851;26728094;26992070;27114449;27452731;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28855257;28904123;29237092;29242379;29249144;29331515;29351928;29393594;29493099;29557506;29632046;29632711;29741879;29786170;30059200;30315122;30397120;30429286;30524438;30543681;30620550;31020640;31217245;31373491;31492838;31844290;31848261;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32870666;32897882;32938616;32938750;32983136;33097660;33141586;33214551;33298915;33360543;33392160;33465208;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34163069;34171305;34185709;34509645;34561969;34725712;34846842;34931806;34932366;35051231;35132862;35254053;35289036;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37340703;37938771;38665916;38780165;38940430;39302247;39531497;39534244;40136647;40596516;40914422;8563753;8563754",
"class_list": "",
"function": "(Microbial infection) Interacts with HIV-1 capsid protein P24 and nucleocapsid protein P7 and may thereby promote the integration of the virus in the host nucleus (in vitro) (PubMed:23523133). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change Asn-74-Asp is reduced (in vitro) (PubMed:23523133)., [UniProtKB, PubMed]; NUP98-BPTF promotes oncogenic transformation through PIM1 upregulation., [RefSeq, PubMed]; Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]., [RefSeq]; Nucleoporin Nup98 is an essential factor for ipo4 dependent protein import., [RefSeq, PubMed]; Nup98 aids in direction of RNAs to the nuclear pore and provide the first potential mechanism for the role of a mobile nucleoporin., [RefSeq, PubMed]; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC (PubMed:33097660). May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural chromosomal rearrangements of NUP98, primarily balanced translocations and inversions, are associated with wide array of hematopoietic malignancies; NUP98 is known to be fused to at least 28 different partner genes in patients. [REVIEW] Review article, [RefSeq, PubMed]; The three-dimensional structure of the autoproteolytic, nuclear pore-targeting domain of the human nucleoporin Nup98., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"reported_o_glycosites_with_glycan": 131,
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"total_reported_n_glycosites": 2,
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"total_o_glycosites": 131,
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"reported_phosphosites": 29,
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"reported_snv": 182,
"reported_interactions": 0,
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"biomarker_type": "",
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"disease_count": 2,
"glyco_site_count": 133,
"binding_glycan_count": 0,
"secondary_ac_list": "Q8IUT2;Q8WYB0;Q96E54;Q9H3Q4;Q9NT02;Q9UF57;Q9UHX0;Q9Y6J4;Q9Y6J5",
"ec_number_list": [],
"go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding",
"go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0044615 nuclear pore nuclear basket;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm",
"go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0006999 nuclear pore organization;GO:0006508 proteolysis;GO:0006913 nucleocytoplasmic transport;GO:0051292 nuclear pore complex assembly",
"synthesized_glycan_count": 0,
"hit_score": 34.3,
"record_id": "P52948-1",
"record_type": "protein",
"filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9ULJ8-1",
"uniprot_id": [
{
"id": "NEB1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9ULJ8",
"type": "external"
}
],
"mass": 123342.0,
"length": 1098,
"protein_name": "Neurabin-1",
"gene_name": "PPP1R9A",
"organism": "Human",
"refseq_name": "neurabin-1 isoform 1",
"refseq_ac": [
{
"id": "NP_001159632",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159632",
"type": "external"
}
],
"gene_names_uniprotkb": "PPP1R9A; KIAA1222",
"gene_names_refseq": "NRB1; NRBI; Neurabin-I; PPP1R9A",
"protein_names_uniprotkb": "Neurabin-1; Neurabin-I; Neural tissue-specific F-actin-binding protein I; Protein phosphatase 1 regulatory subunit 9A",
"protein_names_refseq": "neurabin-1 isoform 1; neurabin-1; neural tissue-specific F-actin-binding protein I; protein phosphatase 1, regulatory (inhibitor) subunit 9A",
"tax_id": 9606,
"disease": "Huntington's disease (Disease Ontology:DOID:12858); transient cerebral ischemia (Disease Ontology:DOID:224); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:55607)",
"pathway_count": 1,
"publication_count": 35,
"publication_id_list": "10504266;11237011;15286155;18669648;19562805;19691289;19913121;20068231;20423481;21406692;22284538;23186163;24397554;25057852;25576301;25757715;28904123;29557506;30249786;30315122;30379171;30779550;31154438;31844290;31848261;32157095;32357974;32938616;33298915;33912179;33968037;33981976;35051231;35580925;37217939",
"class_list": "",
"function": "Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity)., [UniProtKB]; CHN2, ABCB1 and PPP1R9A expression on chromosome 7 is implicated in the pathogenesis of hepatosplenic T-cell lymphoma distinguishing it from other malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma., [RefSeq, PubMed]; MARCKS and PPP1R9A might contribute to spine loss in schizophrenia and bipolar disorder through their interactions., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PPP1R9A gene is imprinted, with preferential expression from the maternal allele in embryonic skeletal muscle and extra-embryonic tissues, but biallelic expression in other embryonic tissues., [RefSeq, PubMed]; Studies suggest that any change in substrate specificity of the spinophilin : PP1 holoenzyme complex was probably due to direct modification of a PP1 substrate binding surface. Review article, [RefSeq, PubMed]; This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]",
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"secondary_ac_list": "A1L494;B2RWQ1;E9PCA0;E9PCK6;E9PDX1;F8W7J9;O76059;Q9NXT2",
"ec_number_list": [],
"go_molecular_function": "GO:0051015 actin filament binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0030425 dendrite",
"go_biological_process": "GO:0007015 actin filament organization;GO:0019722 calcium-mediated signaling;GO:0031175 neuron projection development",
"synthesized_glycan_count": 0,
"hit_score": 3.8,
"record_id": "Q9ULJ8-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P35712-1",
"uniprot_id": [
{
"id": "SOX6_HUMAN",
"url": "https://www.uniprot.org/uniprot/P35712",
"type": "external"
}
],
"mass": 91921.0,
"length": 828,
"protein_name": "Transcription factor SOX-6",
"gene_name": "SOX6",
"organism": "Human",
"refseq_name": "transcription factor SOX-6 isoform b",
"refseq_ac": [
{
"id": "NP_001139283",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139283",
"type": "external"
}
],
"gene_names_uniprotkb": "SOX6",
"gene_names_refseq": "HSSOX6; SOX6; SOXD; TOLCAS",
"protein_names_uniprotkb": "Transcription factor SOX-6",
"protein_names_refseq": "SRY (sex determining region Y)-box 6; SRY-box 6; SRY-box containing gene 6; transcription factor SOX-6 isoform b; transcription factor SOX-6",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652); heart disease (Disease Ontology:DOID:114); high grade glioma (Disease Ontology:DOID:3070); Tolchin-Le Caignec syndrome (MONDO:MONDO:0033544)",
"pathway": " (hsa:55553); (R-HSA-3769402)",
"pathway_count": 2,
"publication_count": 51,
"publication_id_list": "10549281;10898789;10921920;10944533;11230166;11237011;11255018;11691915;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;1614875;16442531;16510874;17218525;17412698;17698607;17875931;18378692;18456656;18573912;18598779;18819930;19047045;19364920;19590513;19928349;19940019;22304967;23186163;24291232;24715725;25645385;27600516;31844290;32157095;32442410;32488085;32938616;35051231;36240223;38383842;38704454;38848163;39093065;39379100",
"class_list": "",
"function": "LncRNA MIR181A2HG inhibits keratinocytes proliferation through miR-223-3p/SOX6 axis., [RefSeq, PubMed]; MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFbeta2-Smad2/3 signaling pathway in cervical cancer., [RefSeq, PubMed]; MIAT promotes myofibroblastic activities and transformation in oral submucous fibrosis through sponging the miR-342-3p/SOX6 axis., [RefSeq, PubMed]; Regulatory mechanism of DDX5 in ox-LDL-induced endothelial cell injury through the miR-640/SOX6 axis., [RefSeq, PubMed]; This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]., [RefSeq]; Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity)., [UniProtKB, UniProtKB, PubMed]; Transcriptional repression of the oncofetal LIN28B gene by the transcription factor SOX6. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q86VX7;Q9BXQ3;Q9BXQ4;Q9BXQ5;Q9H0I8",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0007417 central nervous system development;GO:0007420 brain development",
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"hit_score": 5.5,
"record_id": "P35712-1",
"record_type": "protein",
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},
{
"uniprot_canonical_ac": "O95155-1",
"uniprot_id": [
{
"id": "UBE4B_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95155",
"type": "external"
}
],
"mass": 146185.0,
"length": 1302,
"protein_name": "Ubiquitin conjugation factor E4 B",
"gene_name": "UBE4B",
"organism": "Human",
"refseq_name": "ubiquitin conjugation factor E4 B isoform 1",
"refseq_ac": [
{
"id": "NP_001099032",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099032",
"type": "external"
}
],
"gene_names_uniprotkb": "UBE4B; HDNB1; KIAA0684; UFD2",
"gene_names_refseq": "E4; HDNB1; UBE4B; UBOX3; UFD2A; UFD2",
"protein_names_uniprotkb": "Ubiquitin conjugation factor E4 B; 2.3.2.27; Homozygously deleted in neuroblastoma 1; RING-type E3 ubiquitin transferase E4 B; Ubiquitin fusion degradation protein 2",
"protein_names_refseq": "RING-type E3 ubiquitin transferase E4 B; homologous to yeast UFD2; homozygously deleted in neuroblastoma-1; ubiquitin conjugation factor E4 B isoform 1; ubiquitin conjugation factor E4 B; ubiquitin-fusion degradation protein 2; ubiquitination factor E4B (UFD2 homolog, yeast)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10277)",
"pathway_count": 1,
"publication_count": 102,
"publication_id_list": "10980605;11237011;11802788;12700669;15466860;16870146;16964243;17081983;17369820;18220336;18669648;18691976;19690332;20068231;21406692;22174917;22223895;23186163;23301498;23481700;24275569;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26758079;26811146;26929215;26992070;27600516;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30410026;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;33123756;33141586;33298915;33537174;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35008409;35051231;35251023;35254053;35580925;36010968;36215666;36241641;36284347;36470669;37217939;37264022;37957138;38211530;38253038;9653645",
"class_list": "",
"function": "A novel protein encoded by circUBE4B promotes progression of esophageal squamous cell carcinoma by augmenting MAPK/ERK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; A splice site mutation was found in UBE4b. UBE4B expression was diminished in the high-stage/poor-outcome tumors.UBE4B stands out as the strongest candidate NBL tumor suppressor gene in the region at this stage., [RefSeq, PubMed]; E4B serves as a ubiquitin ligase for FEZ1 and thereby regulates its function but not its degradation, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE4B interacts with the ITCH E3 ubiquitin ligase to induce Ku70 and c-FLIPL polyubiquitination and enhanced neuroblastoma apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR., [RefSeq, PubMed]; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. Also functions as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Upregulated UBE4B expression correlates with poor prognosis and tumor immune infiltration in hepatocellular carcinoma., [RefSeq, PubMed]; We have identified a novel domain (the MPAC domain: Mitotically Phosphorylated, Apoptotically Cleaved) present at the N-terminus of Ufd2a, which is regulated both by cleavage during cell death, and by phosphorylation during mitosis., [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "A8K8S9;G0ZJH6;O75169;O95338;Q5SZ12;Q5SZ16;Q96QD4;Q9BYI7",
"ec_number_list": [],
"go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0034450 ubiquitin-ubiquitin ligase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000151 ubiquitin ligase complex",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0009411 response to UV;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway",
"synthesized_glycan_count": 0,
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"record_id": "O95155-1",
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"filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6P1L6-1",
"uniprot_id": [
{
"id": "ZN343_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6P1L6",
"type": "external"
}
],
"mass": 69220.0,
"length": 599,
"protein_name": "Zinc finger protein 343",
"gene_name": "ZNF343",
"organism": "Human",
"refseq_name": "zinc finger protein 343 isoform 1",
"refseq_ac": [
{
"id": "NP_001269424",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269424",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF343",
"gene_names_refseq": "ZNF343; dJ734P14.5",
"protein_names_uniprotkb": "Zinc finger protein 343",
"protein_names_refseq": "zinc finger protein 343 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79175); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 25,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26375851;26992070;27600516;27920218;30410026;31844290;31848261;32157095;32938616;33592498;33968037;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]",
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"secondary_ac_list": "Q5JXU8;Q5JXU9;Q8N8F2;Q96EX8;Q96NA5;Q9BQB0",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0000976 transcription cis-regulatory region binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II",
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"record_id": "Q6P1L6-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q14679-1",
"uniprot_id": [
{
"id": "TTLL4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14679",
"type": "external"
}
],
"mass": 133378.0,
"length": 1199,
"protein_name": "Tubulin monoglutamylase TTLL4",
"gene_name": "TTLL4",
"organism": "Human",
"refseq_name": "tubulin monoglutamylase TTLL4",
"refseq_ac": [
{
"id": "NP_055455",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055455",
"type": "external"
}
],
"gene_names_uniprotkb": "TTLL4; KIAA0173",
"gene_names_refseq": "TTLL4",
"protein_names_uniprotkb": "Tubulin monoglutamylase TTLL4; 6.3.2.-; Protein monoglutamylase TTLL4; Tubulin--tyrosine ligase-like protein 4",
"protein_names_refseq": "protein monoglutamylase TTLL4; tubulin monoglutamylase TTLL4; tubulin polyglutamylase TTLL4; tubulin tyrosine ligase-like family, member 4; tubulin--tyrosine ligase-like protein 4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9654); (R-HSA-8955332)",
"pathway_count": 2,
"publication_count": 66,
"publication_id_list": "11054573;11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;19690332;20519502;21074048;23358242;23481700;24397554;25103237;25418920;25468068;25576301;25645385;25957412;25959773;26024233;26811146;26992070;27846572;28904123;29146868;29437277;29557506;30410026;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32897882;32938616;32998758;33298915;33537174;33592498;33633747;33691108;33717175;33912179;34171305;34185709;34357683;34561969;34932366;35051231;35254053;35318648;35580925;36010968;36241641;37938771;39531497;39894887;7452228",
"class_list": "",
"function": "Characterization of another human tubulin tyrosine ligase-like gene family member, [RefSeq, PubMed]; 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., [UniProtKB, UniProtKB]; Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A8K6V5;Q8WW29",
"ec_number_list": [
{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "6.3.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-",
"type": "external"
},
{
"id": "6.-.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-",
"type": "external"
}
],
"go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0070739 protein-glutamic acid ligase activity",
"go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0036064 ciliary basal body;GO:0097731 9+0 non-motile cilium",
"go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0018095 protein polyglutamylation;GO:0018200 peptidyl-glutamic acid modification",
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"record_id": "Q14679-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q15393-1",
"uniprot_id": [
{
"id": "SF3B3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15393",
"type": "external"
}
],
"mass": 135577.0,
"length": 1217,
"protein_name": "Splicing factor 3B subunit 3",
"gene_name": "SF3B3",
"organism": "Human",
"refseq_name": "splicing factor 3B subunit 3",
"refseq_ac": [
{
"id": "NP_036558",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036558",
"type": "external"
}
],
"gene_names_uniprotkb": "SF3B3; KIAA0017; SAP130",
"gene_names_refseq": "RSE1; SAP130; SF3B3; SF3b130; STAF130",
"protein_names_uniprotkb": "Splicing factor 3B subunit 3; Pre-mRNA-splicing factor SF3b 130 kDa subunit; SAP 130; SF3b130; STAF130; Spliceosome-associated protein 130",
"protein_names_refseq": "SAP 130; pre-mRNA splicing factor SF3b, 130 kDa subunit; spliceosome-associated protein 130; splicing factor 3B subunit 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23450); (R-HSA-72163); (R-HSA-72165); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)",
"pathway_count": 6,
"publication_count": 278,
"publication_id_list": "10.1101/2023.09.13.557529;10199952;10207048;10490618;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11333026;11438666;11564863;11607023;11747608;11991638;12176931;12234937;12411573;12414731;12477934;12682017;12738865;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15146077;15275975;15565158;15647753;16263726;16314458;16372014;16408927;16809785;17074750;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;18288197;18322460;18452278;18593880;19052544;19103666;19165350;19217410;19536130;20068231;20112406;20211137;20423332;20695905;20980672;21136679;21295486;21536652;2176635;21911577;22046413;22110043;22121020;22223895;22365833;22544926;22569126;22645359;22813749;22898188;22922743;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23783831;23874216;24029068;24076191;24149845;24196718;24304693;24366607;24397554;24448447;24714562;24715725;24737827;24914973;2524422;25301780;25301781;25418920;25502872;25555158;25576301;2558966;25645385;25802875;25810538;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26768311;26811146;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27510544;27600516;27661449;27683217;27720643;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28541300;28781166;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30429286;30484775;30524438;30599162;30620550;30705154;30728453;30765414;30779550;30833945;30975767;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33509932;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35154160;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36797247;37217939;3757028;37938771;38665916;38671459;40596516;40914422;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529",
"class_list": "",
"function": "Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:10490618, PubMed:10882114, PubMed:12234937, PubMed:27720643, PubMed:28781166, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B3 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SF3B3-regulated mTOR alternative splicing promotes colorectal cancer progression and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "Q6NTI8;Q96GC0;Q9BPY2;Q9UFX7;Q9UJ29",
"ec_number_list": [],
"go_molecular_function": "GO:0030620 U2 snRNA binding;GO:0044877 protein-containing complex binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0071013 catalytic step 2 spliceosome;GO:0005686 U2 snRNP",
"go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0045893 positive regulation of DNA-templated transcription;GO:0008380 RNA splicing;GO:0042177 negative regulation of protein catabolic process;GO:0043484 regulation of RNA splicing",
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"hit_score": 28.6,
"record_id": "Q15393-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P80188-1",
"uniprot_id": [
{
"id": "NGAL_HUMAN",
"url": "https://www.uniprot.org/uniprot/P80188",
"type": "external"
}
],
"mass": 22588.0,
"length": 198,
"protein_name": "Neutrophil gelatinase-associated lipocalin",
"gene_name": "LCN2",
"organism": "Human",
"refseq_name": "neutrophil gelatinase-associated lipocalin precursor",
"refseq_ac": [
{
"id": "NP_005555",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005555",
"type": "external"
}
],
"gene_names_uniprotkb": "LCN2; HNL; NGAL",
"gene_names_refseq": "24p3; LCN2; MSFI; NGAL; p25",
"protein_names_uniprotkb": "Neutrophil gelatinase-associated lipocalin; 25 kDa alpha-2-microglobulin-related subunit of MMP-9; Lipocalin-2; NGAL; Oncogene 24p3; Siderocalin; p25",
"protein_names_refseq": "25 kDa alpha-2-microglobulin-related subunit of MMP-9; migration-stimulating factor inhibitor; neutrophil gelatinase-associated lipocalin precursor; neutrophil gelatinase-associated lipocalin; oncogene 24p3; siderocalin LCN2",
"tax_id": 9606,
"disease": "stroke (Disease Ontology:DOID:0051061); COVID-19 (Disease Ontology:DOID:0080600); urinary tract infection (Disease Ontology:DOID:0080784); traumatic brain injury (Disease Ontology:DOID:0081292); pre-eclampsia (Disease Ontology:DOID:10591); essential hypertension (Disease Ontology:DOID:10825); hydronephrosis (Disease Ontology:DOID:11111); uveitis (Disease Ontology:DOID:13141); acute cystitis (Disease Ontology:DOID:13148); renovascular hypertension (Disease Ontology:DOID:1591); hyperuricemia (Disease Ontology:DOID:1920); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); hidradenitis suppurativa (Disease Ontology:DOID:2280); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); kidney disease (Disease Ontology:DOID:557); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); retinal degeneration (Disease Ontology:DOID:8466); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:3934); (R-HSA-6785807); (R-HSA-6798695); (R-HSA-6799990); (R-HSA-917937)",
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"class_list": "",
"function": "Emerging insights into Lipocalin-2: Unraveling its role in Parkinson's Disease. Review article, [RefSeq, PubMed]; Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development (PubMed:12453413, PubMed:20581821, PubMed:27780864). Binds iron through association with 2,3-dihydroxybenzoic acid (2,3-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of the iron-free form (apo-24p3) with the SLC22A17 (24p3R) receptor is followed by association with an intracellular siderophore, iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration. Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis (By similarity). Involved in innate immunity; limits bacterial proliferation by sequestering iron bound to microbial siderophores, such as enterobactin (PubMed:27780864). Can also bind siderophores from M.tuberculosis (PubMed:15642259, PubMed:21978368)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Lipocalin-2-mediated intestinal epithelial cells pyroptosis via NF-kappaB/NLRP3/GSDMD signaling axis adversely affects inflammation in colitis., [RefSeq, PubMed]; Neutrophil Gelatinase-Associated Lipocalin for the Differentiation of Mucinous Pancreatic Cystic Lesions. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter Syndrome Patients: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]., [RefSeq]; Tumor-secreted LCN2 impairs gastric cancer progression via autocrine inhibition of the 24p3R/JNK/c-Jun/SPARC axis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0002020 protease binding;GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:1903981 enterobactin binding;GO:0140315 iron ion sequestering activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0070062 extracellular exosome;GO:0035580 specific granule lumen",
"go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0045087 innate immune response;GO:1904646 cellular response to amyloid-beta;GO:1990090 cellular response to nerve growth factor stimulus;GO:0006915 apoptotic process",
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},
{
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{
"id": "RRP5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14690",
"type": "external"
}
],
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"protein_name": "Protein RRP5 homolog",
"gene_name": "PDCD11",
"organism": "Human",
"refseq_name": "protein RRP5 homolog isoform 2",
"refseq_ac": [
{
"id": "NP_055791",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055791",
"type": "external"
}
],
"gene_names_uniprotkb": "PDCD11; KIAA0185",
"gene_names_refseq": "ALG-4; ALG4; NFBP; PDCD11; RRP5",
"protein_names_uniprotkb": "Protein RRP5 homolog; NF-kappa-B-binding protein; NFBP; Programmed cell death protein 11",
"protein_names_refseq": "NF-kappa-B-binding protein; apoptosis-linked gene 4; programmed cell death protein 11; protein RRP5 homolog isoform 2; protein RRP5 homolog",
"tax_id": 9606,
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"class_list": "",
"function": "Data provide no evidence for the contribution of rare PDCD11 variations to the risk of schizophrenia in the Japanese population., [RefSeq, PubMed]; Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Evidence is presented for involvement of PDCD11 in processing of ribosomal RNA., [RefSeq, PubMed]; Involved in the biogenesis of rRNA., [UniProtKB]; PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]., [RefSeq]; The 50S U3 snoRNP is an small subunit assembly intermediate that is likely recruited to the pre-rRNA through the RNA-binding proteins nucleolin and RRP5.[RRP5, DBP4], [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0051059 NF-kappaB binding;GO:0003676 nucleic acid binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0032040 small-subunit processome",
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},
{
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"uniprot_id": [
{
"id": "NBPF1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q3BBV0",
"type": "external"
}
],
"mass": 139258.0,
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"protein_name": "NBPF family member NBPF1",
"gene_name": "NBPF1",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
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"protein_names_uniprotkb": "NBPF family member NBPF1; Neuroblastoma breakpoint family member 1",
"protein_names_refseq": "",
"tax_id": 9606,
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},
{
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"uniprot_id": [
{
"id": "SH319_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5HYK7",
"type": "external"
}
],
"mass": 86525.0,
"length": 790,
"protein_name": "SH3 domain-containing protein 19",
"gene_name": "SH3D19",
"organism": "Human",
"refseq_name": "SH3 domain-containing protein 19 isoform 1",
"refseq_ac": [
{
"id": "NP_001009555",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009555",
"type": "external"
}
],
"gene_names_uniprotkb": "SH3D19",
"gene_names_refseq": "EBP; EVE1; Eve-1; Kryn; SH3D19; SH3P19",
"protein_names_uniprotkb": "SH3 domain-containing protein 19; ADAM-binding protein Eve-1; EBP; EEN-binding protein",
"protein_names_refseq": "ADAM-binding protein Eve-1; EEN-binding protein; SH3 domain protein D19; SH3 domain-containing protein 19 isoform 1; SH3 domain-containing protein 19",
"tax_id": 9606,
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"pathway": " (hsa:152503); (R-HSA-432722)",
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"class_list": "",
"function": "Identified and characterized EBP, a novel EEN binding protein that interacts with the SH3 domain of EEN; normally expressed in cytoplasm but recruited to the nucleus by MLL-EEN [EBP], [RefSeq, PubMed]; May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Occurrence of an unusual TG 3' splice site in intron 6, [RefSeq, PubMed]; This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]",
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"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane",
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},
{
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{
"id": "SHSA5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N114",
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}
],
"mass": 25582.0,
"length": 240,
"protein_name": "Protein shisa-5",
"gene_name": "SHISA5",
"organism": "Human",
"refseq_name": "protein shisa-5 isoform b precursor",
"refseq_ac": [
{
"id": "NP_001258994",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258994",
"type": "external"
}
],
"gene_names_uniprotkb": "SHISA5; PSEC0133; SCOTIN",
"gene_names_refseq": "SCOTIN; SHISA5",
"protein_names_uniprotkb": "Protein shisa-5; Putative NF-kappa-B-activating protein 120; Scotin",
"protein_names_refseq": "protein shisa-5 isoform b precursor; putative NF-kappa-B-activating protein 120; shisa homolog 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51246); (R-HSA-381426); (R-HSA-8957275)",
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"function": "ALG-2 binding to Scotin is strictly calcium dependent, indicating a role of this interaction in calcium signaling pathways, [RefSeq, PubMed]; Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; IFN-beta-induced SCOTIN recruits the HCV NS5A protein to autophagosomes for degradation, thereby restricting HCV replication. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Scotin plays a role in p53-dependent apoptosis, [RefSeq, PubMed]; This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]., [RefSeq]",
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"secondary_ac_list": "B3KW99;F8W9N8;Q69YY9;Q7Z433;Q8NHL9;Q96MW8;Q9BV58",
"ec_number_list": [],
"go_molecular_function": "GO:0050699 WW domain binding;GO:0140693 molecular condensate scaffold activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:1905898 positive regulation of response to endoplasmic reticulum stress;GO:0006915 apoptotic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:1900103 positive regulation of endoplasmic reticulum unfolded protein response",
"synthesized_glycan_count": 0,
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"record_id": "Q8N114-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5VWK0-1",
"uniprot_id": [
{
"id": "NBPF6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5VWK0",
"type": "external"
}
],
"mass": 72239.0,
"length": 638,
"protein_name": "NBPF family member NBPF6",
"gene_name": "NBPF6",
"organism": "Human",
"refseq_name": "NBPF family member NBPF6 isoform 1",
"refseq_ac": [
{
"id": "NP_001137459",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137459",
"type": "external"
}
],
"gene_names_uniprotkb": "NBPF6",
"gene_names_refseq": "NBPF6",
"protein_names_uniprotkb": "NBPF family member NBPF6; Neuroblastoma breakpoint family member 6",
"protein_names_refseq": "NBPF family member NBPF6 isoform 1; NBPF family member NBPF6; neuroblastoma breakpoint family member 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:653149)",
"pathway_count": 1,
"publication_count": 4,
"publication_id_list": "11237011;27543614;27600516;35051231",
"class_list": "",
"function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]., [RefSeq]",
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"secondary_ac_list": "A4QN25",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005737 cytoplasm",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 0.5,
"record_id": "Q5VWK0-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y466-1",
"uniprot_id": [
{
"id": "NR2E1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y466",
"type": "external"
}
],
"mass": 42589.0,
"length": 385,
"protein_name": "Nuclear receptor subfamily 2 group E member 1",
"gene_name": "NR2E1",
"organism": "Human",
"refseq_name": "nuclear receptor subfamily 2 group E member 1 isoform a",
"refseq_ac": [
{
"id": "NP_001273031",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273031",
"type": "external"
}
],
"gene_names_uniprotkb": "NR2E1; TLX",
"gene_names_refseq": "NR2E1; TLL; TLX; XTLL",
"protein_names_uniprotkb": "Nuclear receptor subfamily 2 group E member 1; Nuclear receptor TLX; Protein tailless homolog; Tll; hTll",
"protein_names_refseq": "nuclear receptor TLX; nuclear receptor subfamily 2 group E member 1 isoform a; protein tailless homolog; tailes-related receptor",
"tax_id": 9606,
"disease": "brain cancer (Disease Ontology:DOID:1319)",
"pathway": " (hsa:7101); (R-HSA-383280); (R-HSA-8943724)",
"pathway_count": 3,
"publication_count": 41,
"publication_id_list": "10235266;10542397;11073974;11237011;11378386;11545734;11781575;11865025;11959846;12079282;15175151;15896744;16418168;16676006;16702404;16751179;17873065;17974977;18172008;18391013;18487508;19440552;19884659;20233713;20516213;21289308;22128185;23287862;24718924;25728608;26910647;29557506;31844290;32805587;33858847;34171305;34463725;35932893;36321378;9628820;9653119",
"class_list": "",
"function": "A NR2E1-interacting peptide of LSD1 inhibits the proliferation of brain tumour initiating cells., [RefSeq, PubMed]; Compared sequence from human, mouse, and the puffer fish Fugu rubripes, [RefSeq, PubMed]; Genetic analysis of the NR2E1 gene as a candidate gene of schizophrenia., [RefSeq, PubMed]; Orphan nuclear receptor TLX promotes immunosuppression via its transcriptional activation of PD-L1 in glioma., [RefSeq, PubMed]; Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells., [UniProtKB]; TLX, an Orphan Nuclear Receptor With Emerging Roles in Physiology and Disease. Review article, [RefSeq, PubMed]; The nuclear receptor TLX (NR2E1) inhibits growth and progression of triple- negative breast cancer., [RefSeq, PubMed]; The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]",
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"missing_score": 10000,
"biomarker_type": "",
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q6ZMP8",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0003707 nuclear steroid receptor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:2000648 positive regulation of stem cell proliferation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation",
"synthesized_glycan_count": 0,
"hit_score": 4.2,
"record_id": "Q9Y466-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6ZMH5-1",
"uniprot_id": [
{
"id": "S39A5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ZMH5",
"type": "external"
}
],
"mass": 56461.0,
"length": 540,
"protein_name": "Zinc transporter ZIP5",
"gene_name": "SLC39A5",
"organism": "Human",
"refseq_name": "zinc transporter ZIP5 precursor",
"refseq_ac": [
{
"id": "NP_001128667",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128667",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC39A5; ZIP5",
"gene_names_refseq": "LZT-Hs7; MYP24; SLC39A5; ZIP5",
"protein_names_uniprotkb": "Zinc transporter ZIP5; Solute carrier family 39 member 5; ZIP-5; Zrt- and Irt-like protein 5",
"protein_names_refseq": "ZRT/IRT-like protein 5; solute carrier family 39 (metal ion transporter), member 5; solute carrier family 39 (zinc transporter), member 5; zinc transporter 5; zinc transporter ZIP5 precursor; zinc transporter ZIP5; zrt- and Irt-like protein 5",
"tax_id": 9606,
"disease": "myopia (Disease Ontology:DOID:11830)",
"pathway": " (hsa:283375); (R-HSA-442380)",
"pathway_count": 2,
"publication_count": 38,
"publication_id_list": "10.1038/emboj.2013.79;10364181;10610721;10681536;11237011;11301334;12032886;12068297;12839489;14525538;15322118;15642354;16638970;16804107;17359283;17550612;18003899;18390834;19265717;19755388;23584533;24891338;25525168;27458102;29393594;29557506;30459171;32387766;32502341;32938616;33563959;34252710;34270706;34302427;35051231;36454509;37015930;37074911",
"class_list": "",
"function": "Functional characterization of SLC39 family members ZIP5 and ZIP10 in overexpressing HEK293 cells reveals selective copper transport activity. Erratum:[Biometals. 2024 Aug;37(4):1037-1038. doi: 10.1007/s10534-024-00615-z. PMID: 38913288], [RefSeq, PubMed]; Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5., [RefSeq, PubMed]; SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis., [RefSeq, PubMed]; SLC39A5 promotes lung adenocarcinoma cell proliferation by activating PI3K/AKT signaling., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]; Uniporter that transports zinc(2+) into polarized cells of enterocytes, pancreatic acinar and endoderm cells across the basolateral membrane and participates, notably, in zinc excretion from the intestine by the uptake of zinc from the blood into the intestine (By similarity). The transport mechanism is temperature- and concentration-dependent and saturable (By similarity). In addition, is also a high affinity copper transporter in vitro (PubMed:36454509). Also may regulate glucose-stimulated insulin secretion (GSIS) in islets primarily through the zinc-activated SIRT1-PPARGC1A axis (By similarity). Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Plays a role in eye development (PubMed:24891338)., [UniProtKB, UniProtKB, PubMed, PubMed]; We found that downregulation of ZIP5 by RNA interference inhibited esophageal cancer growth in vivo, reduced the expression of COX2, and promoted the expression of E-cadherin., [RefSeq, PubMed]; Zip5 protein is a zinc transporter that localizes to the basolateral surface of polarized cells, [RefSeq, PubMed]",
"predicted_glycosites": 2,
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"secondary_ac_list": "B2R808;Q8N6Y3",
"ec_number_list": [
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0140410 monoatomic cation:bicarbonate symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0030509 BMP signaling pathway;GO:0030003 intracellular monoatomic cation homeostasis;GO:0061351 neural precursor cell proliferation",
"synthesized_glycan_count": 0,
"hit_score": 4.8,
"record_id": "Q6ZMH5-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P58743-1",
"uniprot_id": [
{
"id": "S26A5_HUMAN",
"url": "https://www.uniprot.org/uniprot/P58743",
"type": "external"
}
],
"mass": 81264.0,
"length": 744,
"protein_name": "Prestin",
"gene_name": "SLC26A5",
"organism": "Human",
"refseq_name": "prestin isoform e",
"refseq_ac": [
{
"id": "NP_001161434",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161434",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC26A5; PRES",
"gene_names_refseq": "DFNB61; PRES; SLC26A5",
"protein_names_uniprotkb": "Prestin; Solute carrier family 26 member 5",
"protein_names_refseq": "prestin (motor protein); prestin isoform e; solute carrier family 26 (anion exchanger), member 5",
"tax_id": 9606,
"disease": "autosomal recessive nonsyndromic deafness 61 (Disease Ontology:DOID:0110513); hypothyroidism (Disease Ontology:DOID:1459)",
"pathway": " (hsa:375611); (R-HSA-9662361)",
"pathway_count": 2,
"publication_count": 16,
"publication_id_list": "10821263;11237011;12719379;15140192;18452278;19898896;24164807;30779550;34390643;35051231;35494241;35580925;38237483;38431907;38474007;39482536",
"class_list": "glycogene",
"function": "An essential function of prestin in human auditory processing, [RefSeq, PubMed]; Evaluation of inner ear damage by mastoid drilling with measurement of serum prestin (SLC26A5) levels., [RefSeq, PubMed]; Functional Studies of Deafness-Associated Pendrin and Prestin Variants. Publication Status: Online-Only, [RefSeq, PubMed]; The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss., [RefSeq, PubMed]; This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]., [RefSeq]; Voltage-sensitive motor protein that drives outer hair cell (OHC) electromotility (eM) and participates in sound amplification in the hearing organ (By similarity). Converts changes in the transmembrane electric potential into mechanical displacements resulting in the coupling of its expansion to movement of a charged voltage sensor across the lipid membrane (By similarity). The nature of the voltage sensor is not completely clear, and two models compete. In the first model, acts as an incomplete transporter where intracellular chloride anion acts as extrinsic voltage sensor that drives conformational change in the protein which is sufficient to produce a length change in the plane of the membrane and hence in the length of the OHC (By similarity). The second model in which multiple charged amino acid residues are distributed at the intracellular and extracellular membrane interfaces that form an intrinsic voltage sensor, whose movement produces the non-linear capacitance (NLC) (PubMed:34390643). However, the effective voltage sensor may be the result of a hybrid voltage sensor, assembled from intrinsic charge (charged residues) and extrinsic charge (bound anion) (By similarity). Notably, binding of anions to the anion-binding pocket partially neutralizes the intrinsic positive charge rather than to form an electrically negative sensor, therefore remaining charge may serve as voltage sensor that, after depolarization, moves from down (expanded state) to up (contracted) conformation, which is accompanied by an eccentric contraction of the intermembrane cross-sectional area of the protein as well as a major increase in the hydrophobic thickness of the protein having as consequences the plasma membrane thickening and the cell contraction after membrane depolarization (PubMed:34390643). The anion-binding pocket transits from the inward-open (Down) state, where it is exposed toward the intracellular solvent in the absence of anion, to the occluded (Up) state upon anion binding (PubMed:34390643). Salicylate competes for the anion-binding site and inhibits the voltage-sensor movement, and therefore inhibits the charge transfer and electromotility by displacing Cl(-) from the anion-binding site and by preventing the structural transitions to the contracted state (PubMed:34390643). In addition, can act as a weak Cl(-)/HCO3(-) antiporter across the cell membrane and so regulate the intracellular pH of the outer hair cells (OHCs), while firstly found as being unable to mediate electrogenic anion transport (By similarity). Moreover, supports a role in cardiac mechanical amplification serving as an elastic element to enhance the actomyosin- based sarcomere contraction system (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]",
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"reported_snv": 912,
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"secondary_ac_list": "Q496J2;Q7Z7F3;Q86UF8;Q86UF9;Q86UG0",
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"go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0030507 spectrin binding;GO:0019531 oxalate transmembrane transporter activity;GO:0008271 secondary active sulfate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016328 lateral plasma membrane;GO:0120249 lateral wall of outer hair cell;GO:0016020 membrane",
"go_biological_process": "GO:0019532 oxalate transport;GO:0002931 response to ischemia;GO:0010996 response to auditory stimulus;GO:0007605 sensory perception of sound;GO:0008360 regulation of cell shape",
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},
{
"uniprot_canonical_ac": "P62253-1",
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{
"id": "UB2G1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P62253",
"type": "external"
}
],
"mass": 19509.0,
"length": 170,
"protein_name": "Ubiquitin-conjugating enzyme E2 G1",
"gene_name": "UBE2G1",
"organism": "Human",
"refseq_name": "ubiquitin-conjugating enzyme E2 G1",
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{
"id": "NP_003333",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003333",
"type": "external"
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],
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"gene_names_refseq": "E217K; UBC7; UBE2G1; UBE2G",
"protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 G1; 2.3.2.23; E2 ubiquitin-conjugating enzyme G1; E217K; UBC7; Ubiquitin carrier protein G1; Ubiquitin-protein ligase G1",
"protein_names_refseq": "E2 ubiquitin-conjugating enzyme G1; ubiquitin carrier protein G1; ubiquitin conjugating enzyme E2G 1; ubiquitin-conjugating enzyme E2 G1; ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans); ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast); ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7); ubiquitin-protein ligase G1",
"tax_id": 9606,
"disease": "azoospermia (Disease Ontology:DOID:14227); congenital heart disease (Disease Ontology:DOID:1682)",
"pathway": " (hsa:7326); (R-HSA-8866652); (R-HSA-983168)",
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"function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4., [UniProtKB, PubMed, PubMed]; Study reports that UBCH8 and UBE2G1 and UBE2G2 cooperate with CRL4Cdt2 in promoting the polyubiquitylation and subsequent degradation of p21 and Cdt1, respectively, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; The ubiquitin-conjugating enzymes UBE2G1 and UBE2D3 cooperatively promote the K48-linked polyubiquitination of CRL4(CRBN) neomorphic substrates Publication Status: Online-Only, [RefSeq, PubMed]; UBE2R2 alone had negligible ubiquitylation activity at physiological concentrations and the ablation of UBE2R1/2 had no effect on the stability of SCF substrates in cells. A genome-wide CRISPR screen revealed that an additional E2 enzyme, UBE2G1, buffers against the loss of UBE2R1/2. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin binding by the acidic loops of Ube2g1 and Ube2r1 enzymes distinguishes their Lys-48-ubiquitylation activities, [RefSeq, PubMed]",
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"secondary_ac_list": "B2R7P2;D3DTK0;Q99462",
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{
"id": "6.2.1.45",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45",
"type": "external"
},
{
"id": "2.3.2.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24",
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{
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{
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{
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{
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{
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{
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{
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{
"id": "3.6.4.-",
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{
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{
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{
"id": "2.7.11.1",
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],
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"go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0070534 protein K63-linked ubiquitination",
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},
{
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{
"id": "NAR4_HUMAN",
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],
"mass": 35879.0,
"length": 314,
"protein_name": "Ecto-ADP-ribosyltransferase 4",
"gene_name": "ART4",
"organism": "Human",
"refseq_name": "ecto-ADP-ribosyltransferase 4 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_066549",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_066549",
"type": "external"
}
],
"gene_names_uniprotkb": "ART4; DOK1; DO",
"gene_names_refseq": "ART4; ARTC4; CD297; DO/ART4; DOK1; DO",
"protein_names_uniprotkb": "Ecto-ADP-ribosyltransferase 4; 2.4.2.31; ADP-ribosyltransferase C2 and C3 toxin-like 4; ARTC4; Dombrock blood group carrier molecule; Mono(ADP-ribosyl)transferase 4; NAD(P)(+)--arginine ADP-ribosyltransferase 4",
"protein_names_refseq": "ADP-ribosyltransferase 4 (DO blood group); ADP-ribosyltransferase 4 (Dombrock blood group); ADP-ribosyltransferase C2 and C3 toxin-like 4; Do glycoprotein; Dombrock blood group carrier molecule; Dombrock glycoprotein; NAD(+)--protein-arginine ADP-ribosyltransferase 4; NAD(P)(+)--arginine ADP-ribosyltransferase 4; ecto-ADP-ribosyltransferase 4 isoform 1 precursor; ecto-ADP-ribosyltransferase 4; mono-ADP-ribosyltransferase 4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:420); (R-HSA-163125)",
"pathway_count": 2,
"publication_count": 15,
"publication_id_list": "11001920;11072085;11237011;11520417;11896313;20106667;2443973;25988428;26374642;29391424;33206405;3422494;34655192;37074911;9119374",
"class_list": "",
"function": "A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family., [RefSeq, PubMed]; Characterization of two novel DO*B alleles highlights the value of testing selected ethnic groups in understanding DO allele diversity., [RefSeq, PubMed]; Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations., [RefSeq, PubMed]; This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
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{
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{
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{
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0106274 NAD+-protein-arginine ADP-ribosyltransferase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane",
"go_biological_process": "GO:0006525 arginine metabolic process",
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},
{
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{
"id": "TXD11_HUMAN",
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],
"mass": 110529.0,
"length": 985,
"protein_name": "Thioredoxin domain-containing protein 11",
"gene_name": "TXNDC11",
"organism": "Human",
"refseq_name": "thioredoxin domain-containing protein 11 isoform 1",
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{
"id": "NP_001290376",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290376",
"type": "external"
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],
"gene_names_uniprotkb": "TXNDC11; EFP1",
"gene_names_refseq": "EFP1; TXNDC11",
"protein_names_uniprotkb": "Thioredoxin domain-containing protein 11; EF-hand-binding protein 1",
"protein_names_refseq": "EF-hand binding protein 1; thioredoxin domain-containing protein 11 isoform 1; thioredoxin domain-containing protein 11",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51061); (R-HSA-209968)",
"pathway_count": 2,
"publication_count": 76,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;11514595;15561711;15972824;16651268;16910871;1722671;17693683;19144650;23481700;24190977;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27058226;27846572;27869121;27920218;28063628;28228285;28314751;28514659;28832583;28834231;28904123;29242379;29275860;29508533;29557506;29632711;29741879;29769354;29786170;29789417;30315122;30429286;30459171;31092671;31217245;31844290;32065582;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34561969;35051231;35251023;36010968;36152228;36284347;37074911;37686174;38253038;67547;8806637",
"class_list": "",
"function": "EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD. Publication Status: Online-Only, [RefSeq, PubMed]; EFP1 is a thioredoxin-related protein and partner of duox, [RefSeq, PubMed]; Expression analysis and functional characterization of thioredoxin domain-containing protein 11., [RefSeq, PubMed]; High Thioredoxin Domain-Containing Protein 11 Expression Is Associated with Tumour Progression in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation., [UniProtKB]",
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"secondary_ac_list": "O95887;Q6PJA6;Q8N2Q4;Q96K45;Q96K53",
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"go_molecular_function": "",
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"record_id": "Q6PKC3-1",
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},
{
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{
"id": "S4A10_HUMAN",
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],
"mass": 125946.0,
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"protein_name": "Sodium-driven chloride bicarbonate exchanger",
"gene_name": "SLC4A10",
"organism": "Human",
"refseq_name": "sodium-driven chloride bicarbonate exchanger isoform 1",
"refseq_ac": [
{
"id": "NP_001171486",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171486",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC4A10; NBCN2; NCBE",
"gene_names_refseq": "NBCn2; NCBE; SLC4A10",
"protein_names_uniprotkb": "Sodium-driven chloride bicarbonate exchanger; Solute carrier family 4 member 10",
"protein_names_refseq": "sodium-driven chloride bicarbonate exchanger isoform 1; sodium-driven chloride bicarbonate exchanger; solute carrier family 4, sodium bicarbonate cotransporter-like, member 10; solute carrier family 4, sodium bicarbonate transporter, member 10",
"tax_id": 9606,
"disease": "anemia (Disease Ontology:DOID:2355); neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (MONDO:MONDO:0958278)",
"pathway": " (hsa:57282); (R-HSA-425381)",
"pathway_count": 2,
"publication_count": 39,
"publication_id_list": "10.1101/2023.09.13.557529;10347222;10362779;10545938;10978526;10993873;11237011;11305939;11788353;18061361;18319254;18413482;20331378;23481700;24472682;24715725;25418920;2594752;28360221;29557506;3015590;31844290;32938616;33592498;34087483;34171305;34211107;35051231;36010968;37217939;37459438;38054405;7506871;7530501;7923606;8206915;9235899;9312167;9651366",
"class_list": "",
"function": "Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder., [RefSeq, PubMed]; Genetic variation in SLC4A10 expression and function in the central nervous system may affect the regulation of systemic water balance, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Propose to rename NCBE as the second electroneutral Na/HCO(3) cotransporter, NBCn2, [RefSeq, PubMed]; SLC4A10 (OMIM 605556), a sodium bicarbonate transporter gene with high expression in the cerebral cortex and hippocampus, was disrupted by the translocation breakpoint on chromosome 2q24., [RefSeq, PubMed]; SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission., [RefSeq, PubMed]; Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Acting on presynaptic intracellular pH, it promotes GABA release, reduces the excitability of CA1 pyramidal neurons, and modulates short-term synaptic plasticity (By similarity). Required in retinal cells to maintain normal pH which is necessary for normal vision (By similarity). In the kidney, likely to mediate bicarbonate reclamation in the apical membrane of the proximal tubules (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]., [RefSeq]",
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"total_reported_n_glycosites": 3,
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"reported_snv": 32,
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"biomarker_type": "",
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"disease_count": 2,
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"secondary_ac_list": "B7Z1R0;B7Z2J0;B7ZLC5;B9EG69;F8W675;Q4ZFX6;Q8TCP2;Q9HCQ6",
"ec_number_list": [],
"go_molecular_function": "GO:0005452 solute:inorganic anion antiporter activity;GO:0008510 sodium:bicarbonate symporter activity;GO:0140892 sodium,bicarbonate:chloride antiporter activity;GO:0008509 monoatomic anion transmembrane transporter activity;GO:0015106 bicarbonate transmembrane transporter activity",
"go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030425 dendrite",
"go_biological_process": "GO:0048172 regulation of short-term neuronal synaptic plasticity;GO:0055085 transmembrane transport;GO:0007601 visual perception;GO:0006821 chloride transport;GO:0015701 bicarbonate transport",
"synthesized_glycan_count": 0,
"hit_score": 4.7,
"record_id": "Q6U841-1",
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"filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8WWY7-1",
"uniprot_id": [
{
"id": "WFD12_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WWY7",
"type": "external"
}
],
"mass": 12050.0,
"length": 111,
"protein_name": "WAP four-disulfide core domain protein 12",
"gene_name": "WFDC12",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 12 precursor",
"refseq_ac": [
{
"id": "NP_543145",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_543145",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC12; C20orf122; PRO844; WAP2",
"gene_names_refseq": "C20orf122; SWAM2; WAP2; WFDC12; dJ211D12.4",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 12; Putative protease inhibitor WAP12; Whey acidic protein 2",
"protein_names_refseq": "WAP four-disulfide core domain protein 12 precursor; WAP four-disulfide core domain protein 12; protease inhibitor WAP2; putative protease inhibitor WAP12; single WAP motif protein 2; whey acidic protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:128488)",
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"publication_count": 7,
"publication_id_list": "11779191;12975309;28832583;29632711;33157095;36882395;37225895",
"class_list": "",
"function": "Antibacterial protein. Putative acid-stable proteinase inhibitor., [UniProtKB]; Construction of a novel pyrotosis-related prognostic model of esophageal square cell carcinoma and determination of the anti-tumor effect of WFDC12. Publication Status: Online-Only, [RefSeq, PubMed]; The Whey Acidic Protein WFDC12 Is Specifically Expressed in Terminally Differentiated Keratinocytes and Regulates Epidermal Serine Protease Activity., [RefSeq, PubMed]; The size is 774 bp and it gives rise to a polypeptide of 111 amino acid residues that is homologous to elafin and similar WAP-type protease inhibitors., [RefSeq, PubMed]; This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]., [RefSeq]; WFDC12-overexpressing contributes to the development of atopic dermatitis via accelerating ALOX12/15 metabolism and PAF accumulation. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q5H980;Q9BR31",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0042742 defense response to bacterium",
"synthesized_glycan_count": 0,
"hit_score": 0.8,
"record_id": "Q8WWY7-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5JS37-1",
"uniprot_id": [
{
"id": "NHLC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JS37",
"type": "external"
}
],
"mass": 38283.0,
"length": 347,
"protein_name": "NHL repeat-containing protein 3",
"gene_name": "NHLRC3",
"organism": "Human",
"refseq_name": "NHL repeat-containing protein 3 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001012772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012772",
"type": "external"
}
],
"gene_names_uniprotkb": "NHLRC3",
"gene_names_refseq": "NHLRC3",
"protein_names_uniprotkb": "NHL repeat-containing protein 3",
"protein_names_refseq": "NHL repeat-containing protein 3 isoform a precursor; NHL repeat-containing protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:387921); (R-HSA-6798695)",
"pathway_count": 2,
"publication_count": 38,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;23650620;24190977;24714562;26992070;27920218;28467828;28649982;28657654;28904123;29242379;29314611;29371260;29557506;29786170;29789417;30315122;30573663;31092671;31844290;32157095;32350084;32387766;32938616;33043033;33298915;33717175;33912179;33968037;34357683;34433824;34509645;35051231;35251023;37074911;8692836",
"class_list": "",
"function": "This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]",
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"binding_glycan_count": 0,
"secondary_ac_list": "B2RTZ2;B4DTL0;Q69YI9",
"ec_number_list": [],
"go_molecular_function": "GO:0061630 ubiquitin protein ligase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0035578 azurophil granule lumen",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 4.8,
"record_id": "Q5JS37-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P34925-1",
"uniprot_id": [
{
"id": "RYK_HUMAN",
"url": "https://www.uniprot.org/uniprot/P34925",
"type": "external"
}
],
"mass": 67815.0,
"length": 607,
"protein_name": "Inactive tyrosine-protein kinase RYK",
"gene_name": "RYK",
"organism": "Human",
"refseq_name": "tyrosine-protein kinase RYK isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001005861",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005861",
"type": "external"
}
],
"gene_names_uniprotkb": "RYK; JTK5A",
"gene_names_refseq": "D3S3195; JTK5A; JTK5; RYK1; RYK",
"protein_names_uniprotkb": "Inactive tyrosine-protein kinase RYK; H-Ryk",
"protein_names_refseq": "JTK5A protein tyrosine kinase; hydroxyaryl-protein kinase; tyrosine-protein kinase RYK isoform 1 precursor",
"tax_id": 9606,
"disease": "intellectual disability (Disease Ontology:DOID:1059)",
"pathway": " (hsa:6259); (R-HSA-201681); (R-HSA-4086400)",
"pathway_count": 3,
"publication_count": 106,
"publication_id_list": "10.1101/2023.09.13.557529;10198061;10454588;10698942;10862746;11029007;11101902;11135307;11237011;11357136;11358862;11448771;11493532;11751577;11779461;12015986;12134165;12205098;12223464;12533515;12839624;14636582;14981260;15084453;15143170;15169958;15208637;15454084;15459103;15501440;15608632;15936275;16116452;16280981;16495441;16554443;16602827;16723543;16971168;17021034;17130287;17234765;17344846;17373907;17433286;17627283;18077588;18162551;18215320;18256687;18423204;18719708;18798527;19000841;19365405;19523939;19530173;19589360;19619488;20004982;20006983;20803696;20940229;21316585;21383061;21875946;22000856;22014570;22411803;22653731;22773843;23109420;23140633;23144463;23256519;23396967;23791946;23821037;24107129;28228285;28467828;29242379;29632711;31844290;32387766;32619402;33936100;33981976;34087483;34171305;34357683;34684112;35051231;35154160;35671428;35715770;36210461;36215666;8386829;8390040;8726462;9135132;9391096;9501980;9674432;9716412",
"class_list": "",
"function": "Comprehensive analysis reveals COPB2 and RYK associated with tumor stages of larynx squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of exosomal miR-7-5p promotes breast cancer migration and invasion by targeting RYK and participating in the atypical WNT signalling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development., [UniProtKB, PubMed]; PAX7, PAX9 and RYK Expression in Cleft Affected Tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Insights into Pseudokinase Domains of Receptor Tyrosine Kinases., [RefSeq, PubMed]; The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]., [RefSeq]; WNT/RYK signaling functions as an antiinflammatory modulator in the lung mesenchyme., [RefSeq, PubMed]",
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"missing_score": 9803,
"biomarker_type": "",
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"secondary_ac_list": "A0A087WUK1;A0A096LNL3;Q04696",
"ec_number_list": [],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004888 transmembrane signaling receptor activity;GO:0005109 frizzled binding;GO:0005524 ATP binding;GO:0015026 coreceptor activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane",
"go_biological_process": "GO:1904935 positive regulation of cell proliferation in midbrain;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007409 axonogenesis;GO:0010976 positive regulation of neuron projection development",
"synthesized_glycan_count": 0,
"hit_score": 11.1,
"record_id": "P34925-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96KK4-1",
"uniprot_id": [
{
"id": "O10C1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96KK4",
"type": "external"
}
],
"mass": 34384.0,
"length": 312,
"protein_name": "Olfactory receptor 10C1",
"gene_name": "OR10C1",
"organism": "Human",
"refseq_name": "olfactory receptor 10C1",
"refseq_ac": [
{
"id": "NP_039229",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_039229",
"type": "external"
}
],
"gene_names_uniprotkb": "OR10C1; OR10C2",
"gene_names_refseq": "OR10C1P; OR10C1; OR10C2; OR6-31; hs6M1-17",
"protein_names_uniprotkb": "Olfactory receptor 10C1; Hs6M1-17; Olfactory receptor 10C2",
"protein_names_refseq": "olfactory receptor 10C1; olfactory receptor 10C2; olfactory receptor OR6-31; olfactory receptor, family 10, subfamily C, member 2; seven transmembrane helix receptor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:442194); (R-HSA-9752946)",
"pathway_count": 2,
"publication_count": 9,
"publication_id_list": "11237011;12730696;19833159;24800820;27515280;31974307;32066986;33141586;35051231",
"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]",
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"reported_snv": 23,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "Q5SUN7;Q96R18",
"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell",
"synthesized_glycan_count": 0,
"hit_score": 1.0,
"record_id": "Q96KK4-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000",
"kg_view_protein": true
},
{
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{
"id": "TTC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P53804",
"type": "external"
}
],
"mass": 229869.0,
"length": 2025,
"protein_name": "E3 ubiquitin-protein ligase TTC3",
"gene_name": "TTC3",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase TTC3 isoform 1",
"refseq_ac": [
{
"id": "NP_001001894",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894",
"type": "external"
}
],
"gene_names_uniprotkb": "TTC3; DCRR1; RNF105; TPRD",
"gene_names_refseq": "DCRR1; RNF105; TPRDIII; TTC3",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase TTC3; 2.3.2.27; Protein DCRR1; RING finger protein 105; RING-type E3 ubiquitin transferase TTC3; TPR repeat protein 3; TPR repeat protein D; Tetratricopeptide repeat protein 3",
"protein_names_refseq": "E3 ubiquitin-protein ligase TTC3 isoform 1; E3 ubiquitin-protein ligase TTC3; RING finger protein 105; RING-type E3 ubiquitin transferase TTC3; TPR repeat protein 3; TPR repeat protein D; tetratricopeptide repeat protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7267)",
"pathway_count": 1,
"publication_count": 64,
"publication_id_list": "11237011;16959974;17081983;17488780;20059950;23481700;24695496;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26728094;26992070;27066578;27846572;28904123;29290964;29557506;30203323;30315122;30429286;30696809;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33592498;33626494;33638766;33691108;33912179;33936100;33968037;33981976;34171305;34509645;35051231;35251023;35494241;35561310;35580925;36010968;36241641;36284347;37677864;37938771;8724848;8947847;9254009;9503011",
"class_list": "",
"function": "An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons., [RefSeq, PubMed]; Data suggest that TTC3 may contribute to TGF-beta1-induced EMT and myofibroblast differentiation, potentially through SMURF2 ubiquitylation/proteasomal degradation and subsequent inhibition of SMURF2-mediated suppression of SMAD2 and SMAD3, which in turn induces TTC3 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene., [RefSeq, PubMed]; 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains. Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. 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. Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2. Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK. Inhibits cell proliferation., [UniProtKB, UniProtKB, UniProtKB]; Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus., [RefSeq, PubMed]; TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment. Review article, [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "A8K7H7;B2RPA7;D3DSG9;D3DSH2;D3DSH3;O60767;P78476;P78477;Q569I2;Q6P578;Q9UEK4",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus",
"go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0016567 protein ubiquitination",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TDX7-1",
"uniprot_id": [
{
"id": "NEK7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TDX7",
"type": "external"
}
],
"mass": 34551.0,
"length": 302,
"protein_name": "Serine/threonine-protein kinase Nek7",
"gene_name": "NEK7",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase Nek7",
"refseq_ac": [
{
"id": "NP_598001",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_598001",
"type": "external"
}
],
"gene_names_uniprotkb": "NEK7",
"gene_names_refseq": "NEK7",
"protein_names_uniprotkb": "Serine/threonine-protein kinase Nek7; 2.7.11.34; Never in mitosis A-related kinase 7; NimA-related protein kinase 7",
"protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 7; never in mitosis A-related kinase 7; nimA-related protein kinase 7; serine/threonine-protein kinase Nek7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:140609); (R-HSA-2980767); (R-HSA-3301854); (R-HSA-9648025)",
"pathway_count": 4,
"publication_count": 84,
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"class_list": "",
"function": "Activated by Nercc1/NEK9; part of the mitotic casscade., [RefSeq, PubMed]; NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]., [RefSeq]; P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate Experimental Autoimmune Prostatitis via GSDMD-mediated Prostate Epithelial Cell Pyroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:17101132, PubMed:19941817, PubMed:31409757). Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis (PubMed:17586473, PubMed:19414596, PubMed:19941817, PubMed:26522158, PubMed:31409757). Phosphorylates EML4 at 'Ser-146', promoting its dissociation from microtubules during mitosis which is required for efficient chromosome congression (PubMed:31409757). Phosphorylates RPS6KB1 (By similarity). Acts as an essential activator of the NLRP3 inflammasome assembly independently of its kinase activity (PubMed:26642356, PubMed:36442502, PubMed:39173637). Acts by unlocking NLRP3 following NLRP3 tranlocation into the microtubule organizing center (MTOC), relieving NLRP3 autoinhibition and promoting formation of the NLRP3:PYCARD complex, and activation of CASP1 (PubMed:26642356, PubMed:31189953, PubMed:36442502, PubMed:39173637, PubMed:40450990). Serves as a cellular switch that enforces mutual exclusivity of the inflammasome response and cell division: interaction with NEK9 prevents interaction with NLRP3 and activation of the inflammasome during mitosis (PubMed:26642356, PubMed:31189953)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation., [RefSeq, PubMed]",
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{
"id": "3.6.5.-",
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{
"id": "2.7.11.1",
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{
"id": "2.7.11.21",
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{
"id": "2.7.12.2",
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{
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity;GO:0140677 molecular function activator activity",
"go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome",
"go_biological_process": "GO:0006468 protein phosphorylation;GO:0007346 regulation of mitotic cell cycle;GO:0051225 spindle assembly;GO:1900227 positive regulation of NLRP3 inflammasome complex assembly;GO:0035865 cellular response to potassium ion",
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},
{
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{
"id": "UTP4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q969X6",
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],
"mass": 76890.0,
"length": 686,
"protein_name": "U3 small nucleolar RNA-associated protein 4 homolog",
"gene_name": "UTP4",
"organism": "Human",
"refseq_name": "U3 small nucleolar RNA-associated protein 4 homolog isoform 1",
"refseq_ac": [
{
"id": "NP_116219",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116219",
"type": "external"
}
],
"gene_names_uniprotkb": "UTP4; CIRH1A; KIAA1988; cPERP-E",
"gene_names_refseq": "CIRH1A; CIRHIN; NAIC; TEX292; UTP4",
"protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 4 homolog; Cirhin; UTP4 small subunit processome component",
"protein_names_refseq": "U3 small nucleolar RNA-associated protein 4 homolog isoform 1; U3 small nucleolar RNA-associated protein 4 homolog; UTP4 small subunit (SSU) processome component; UTP4, small subunit (SSU) processome component, homolog; cirrhosis, autosomal recessive 1A (cirhin); testis expressed gene 292",
"tax_id": 9606,
"disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); cholestasis (Disease Ontology:DOID:13580); liver cirrhosis (Disease Ontology:DOID:5082)",
"pathway": " (hsa:84916); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
"publication_count": 170,
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"class_list": "",
"function": "(Microbial infection) Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV., [UniProtKB, PubMed]; A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis, [RefSeq, PubMed]; Cirhin is a nucleolar protein and the R565W mutation, for which all North American Indian childhood cirrhosis patients are homozygous, has no effect on subcellular localization., [RefSeq, PubMed]; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted d Involved in SSU pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766, PubMed:34516797). May be a transcriptional regulator (PubMed:22916032)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]",
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"secondary_ac_list": "Q8NCD9;Q8TF14;Q96SP0;Q96SR9;Q96SZ9;Q96T13;Q9BWK6",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0005694 chromosome;GO:0034455 t-UTP complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA",
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},
{
"uniprot_canonical_ac": "P78406-1",
"uniprot_id": [
{
"id": "RAE1L_HUMAN",
"url": "https://www.uniprot.org/uniprot/P78406",
"type": "external"
}
],
"mass": 40968.0,
"length": 368,
"protein_name": "mRNA export factor RAE1",
"gene_name": "RAE1",
"organism": "Human",
"refseq_name": "mRNA export factor RAE1",
"refseq_ac": [
{
"id": "NP_001015885",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015885",
"type": "external"
}
],
"gene_names_uniprotkb": "RAE1; MRNP41",
"gene_names_refseq": "Gle2; MIG14; MRNP41; Mnrp41; RAE1; dJ481F12.3; dJ800J21.1",
"protein_names_uniprotkb": "mRNA export factor RAE1; Rae1 protein homolog; mRNA-associated protein mrnp 41",
"protein_names_refseq": "RAE1 RNA export 1 homolog; homolog of yeast Rae1 (Bharathi) mRNA-associated protein of 41 kDa (Kraemer); mRNA export factor RAE1; mRNA export factor; mRNA export protein; mRNA-associated protein MRNP 41; mRNA-binding protein, 41-kD; migration-inducing gene 14; rae1 protein homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8480); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)",
"pathway_count": 31,
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"class_list": "",
"function": "Acts as a mRNA export factor involved in nucleocytoplasmic transport (PubMed:20498086, PubMed:33849972). Plays a role in mitotic bipolar spindle formation (PubMed:17172455). May function in attaching cytoplasmic mRNPs to the cytoskeleton both directly or indirectly (PubMed:17172455)., [UniProtKB, PubMed, PubMed, PubMed]; Insights into the SARS-CoV-2 ORF6 Mechanism of Action. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; SARS-CoV-2 Orf6 is positioned in the nuclear pore complex by Rae1 to inhibit nucleocytoplasmic transport., [RefSeq, PubMed]; Super-Enhancer-Driven RAE1 Shows Higher Protein Levels in Tumor Compared to Adjacent Nonmalignant Stroma in High-Grade Serous Ovarian Cancer Patients., [RefSeq, PubMed]",
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"secondary_ac_list": "A8K882;O15306;Q3SYL7;Q5TCH8;Q6V708;Q9H100;Q9NQM6",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0043130 ubiquitin binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm",
"go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0051301 cell division;GO:0060236 regulation of mitotic spindle organization;GO:0006405 RNA export from nucleus",
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},
{
"uniprot_canonical_ac": "Q16825-1",
"uniprot_id": [
{
"id": "PTN21_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16825",
"type": "external"
}
],
"mass": 133281.0,
"length": 1174,
"protein_name": "Tyrosine-protein phosphatase non-receptor type 21",
"gene_name": "PTPN21",
"organism": "Human",
"refseq_name": "tyrosine-protein phosphatase non-receptor type 21",
"refseq_ac": [
{
"id": "NP_008970",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008970",
"type": "external"
}
],
"gene_names_uniprotkb": "PTPN21; PTPD1",
"gene_names_refseq": "PTPD1; PTPN21; PTPRL10",
"protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 21; 3.1.3.48; Protein-tyrosine phosphatase D1",
"protein_names_refseq": "dJ1175B15.2 (protein tyrosine phosphatase, non-receptor type 21); protein-tyrosine phosphatase D1; tyrosine-protein phosphatase non-receptor type 21",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11099)",
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"publication_count": 25,
"publication_id_list": "10228016;11237011;18077418;21406692;25505266;25645385;29393594;29557506;30429286;30833945;31217419;31848261;31898344;32157095;32387766;32502341;32938616;33141586;33392160;33431714;33968037;35051231;36010968;38785187;7519780",
"class_list": "",
"function": "Molecular Analysis of the Interaction between Human PTPN21 and the Oncoprotein E7 from Human Papillomavirus Genotype 18., [RefSeq, PubMed]; Overexpression of PTPN21 promotes proliferation of EGF-stimulated acute lymphoblastic leukemia cells via the MAPK signaling pathways., [RefSeq, PubMed]; PTPN21-CDSlong isoform inhibits the response of acute lymphoblastic leukemia cells to NK-mediated lysis via the KIR/HLA-I axis., [RefSeq, PubMed]; Study demonstrates that PTPN21 activates KIF1C by binding to the stalk region. This function does not require catalytic activity of the phosphatase, and its N-terminal FERM domain alone is sufficient to stimulate the transport of KIF1C cargoes in cells as well as increasing the landing rate of KIF1C on microtubules in vitro. The cargo adapter Hook3 binds KIF1C in the same region and activates KIF1C in a similar way. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
"id": "3.1.3.16",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16",
"type": "external"
},
{
"id": "3.1.3.48",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48",
"type": "external"
},
{
"id": "3.1.3.21",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18",
"type": "external"
},
{
"id": "3.1.3.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5",
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},
{
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},
{
"id": "2.7.10.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27",
"type": "external"
}
],
"go_molecular_function": "GO:0004725 protein tyrosine phosphatase activity;GO:0016787 hydrolase activity",
"go_cellular_component": "GO:0005856 cytoskeleton",
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{
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{
"id": "NSUN5_HUMAN",
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],
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"gene_name": "NSUN5",
"organism": "Human",
"refseq_name": "28S rRNA (cytosine-C(5))-methyltransferase isoform 3",
"refseq_ac": [
{
"id": "NP_001161819",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161819",
"type": "external"
}
],
"gene_names_uniprotkb": "NSUN5; NSUN5A; WBSCR20A; WBSCR20",
"gene_names_refseq": "NOL1R; NOL1; NSUN5A; NSUN5; WBSCR20A; WBSCR20; p120(NOL1); p120",
"protein_names_uniprotkb": "28S rRNA (cytosine-C(5))-methyltransferase; 2.1.1.-; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOL1R; Williams-Beuren syndrome chromosomal region 20A protein",
"protein_names_refseq": "28S rRNA (cytosine-C(5))-methyltransferase isoform 3; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOP2/Sun RNA methyltransferase family member 5; NOP2/Sun domain family, member 5A; Williams Beuren syndrome chromosome region 20A; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome critical region protein 20 copy A; probable 28S rRNA (cytosine-C(5))-methyltransferase; putative methyltransferase NSUN5",
"tax_id": 9606,
"disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)",
"pathway": " (hsa:55695)",
"pathway_count": 1,
"publication_count": 79,
"publication_id_list": "11237011;11978965;12073013;15302935;18669648;18767875;19664995;20068231;21406692;23186163;23481700;23913415;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26992070;27846572;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;30315122;30410026;30429286;31092671;31154438;31217245;31428936;31530632;31722427;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;33981976;34019948;34171305;34211107;34357683;35051231;35580925;36241641;36284347;37528314;37845385;37938771;38182896;38924712;39428025",
"class_list": "",
"function": "CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA., [RefSeq, PubMed]; Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome, [RefSeq, PubMed]; NSUN5 promotes tumorigenic phenotypes through the WNT signaling pathway and immunosuppression of CD8+ T cells in gastric cancer., [RefSeq, PubMed]; NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells., [RefSeq, PubMed]; RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma cell proliferation via a ZBED3-dependent mechanism., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:23913415, PubMed:31428936, PubMed:31722427). m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity (PubMed:31428936, PubMed:31722427). Required for corpus callosum and cerebral cortex development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The downregulation of NSUN5 may contribute to preeclampsiadagger., [RefSeq, PubMed]; This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 1,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 1,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 1,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 4,
"reported_mutagensis": 2,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 1,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "B3KX04;B4DP79;G3V0G9;Q6ZUI8;Q96HT9;Q9NW70",
"ec_number_list": [
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0009383 rRNA (cytosine-C5-)-methyltransferase activity;GO:0003723 RNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus",
"go_biological_process": "GO:0050890 cognition;GO:0021987 cerebral cortex development;GO:0045727 positive regulation of translation;GO:0031641 regulation of myelination;GO:0014003 oligodendrocyte development",
"synthesized_glycan_count": 0,
"hit_score": 8.2,
"record_id": "Q96P11-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UN30-3",
"uniprot_id": [
{
"id": "SCML1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UN30",
"type": "external"
}
],
"mass": 37447.0,
"length": 329,
"protein_name": "Sex comb on midleg-like protein 1",
"gene_name": "SCML1",
"organism": "Human",
"refseq_name": "sex comb on midleg-like protein 1 isoform c",
"refseq_ac": [
{
"id": "NP_001032624",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032624",
"type": "external"
}
],
"gene_names_uniprotkb": "SCML1",
"gene_names_refseq": "SCML1",
"protein_names_uniprotkb": "Sex comb on midleg-like protein 1",
"protein_names_refseq": "sex comb on midleg like 1; sex comb on midleg-like protein 1 isoform c; sex comb on midleg-like protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6322)",
"pathway_count": 1,
"publication_count": 20,
"publication_id_list": "18452278;18601738;18669648;18691976;26992070;27920218;28464487;28832583;28834231;29393594;29557506;30429286;31530632;32157095;32938616;32983136;33592498;33968037;33981976;9570953",
"class_list": "",
"function": "Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay, [RefSeq, PubMed]; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity)., [UniProtKB]; The molecular evolutionary pattern of SCML1 in diverse primate species showed a strong signature of adaptive evolution which is caused by Darwinian positive selection Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 4,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B0FZN6;B2RA08;Q5H968;Q5H969",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 2.1,
"record_id": "Q9UN30-3",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P15692-13",
"uniprot_id": [
{
"id": "VEGFA_HUMAN",
"url": "https://www.uniprot.org/uniprot/P15692",
"type": "external"
}
],
"mass": 43597.0,
"length": 395,
"protein_name": "Vascular endothelial growth factor A, long form",
"gene_name": "VEGFA",
"organism": "Human",
"refseq_name": "vascular endothelial growth factor A, long form isoform c",
"refseq_ac": [
{
"id": "NP_001020538",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020538",
"type": "external"
}
],
"gene_names_uniprotkb": "VEGFA; VEGF",
"gene_names_refseq": "L-VEGF; MVCD1; VEGFA; VEGF; VPF",
"protein_names_uniprotkb": "Vascular endothelial growth factor A, long form; L-VEGF; VPF; Vascular permeability factor",
"protein_names_refseq": "vascular endothelial growth factor A, long form isoform c; vascular endothelial growth factor A, long form; vascular endothelial growth factor A121; vascular endothelial growth factor A165; vascular permeability factor",
"tax_id": 9606,
"disease": "pterygium (Disease Ontology:DOID:0002116); erythema multiforme (Disease Ontology:DOID:0050185); inflammatory bowel disease (Disease Ontology:DOID:0050589); limb ischemia (Disease Ontology:DOID:0050852); stroke (Disease Ontology:DOID:0051061); ductal carcinoma in situ (Disease Ontology:DOID:0060074); brain glioma (Disease Ontology:DOID:0060108); ischemic colitis (Disease Ontology:DOID:0060181); amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); atrial fibrillation (Disease Ontology:DOID:0060224); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); alcohol-associated liver disease (Disease Ontology:DOID:0070658); COVID-19 (Disease Ontology:DOID:0080600); graft-versus-host disease (Disease Ontology:DOID:0081267); vestibular schwannomatosis (Disease Ontology:DOID:0111252); neurofibromatosis 1 (Disease Ontology:DOID:0111253); prostate cancer (Disease Ontology:DOID:10283); retinitis pigmentosa (Disease Ontology:DOID:10584); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); intracranial aneurysm (Disease Ontology:DOID:10941); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); DiGeorge syndrome (Disease Ontology:DOID:11198); pulmonary edema (Disease Ontology:DOID:11396); polycystic ovary syndrome (Disease Ontology:DOID:11612); diabetic angiopathy (Disease Ontology:DOID:11713); primary biliary cholangitis (Disease Ontology:DOID:12236); Graves' disease (Disease Ontology:DOID:12361); retinal ischemia (Disease Ontology:DOID:12510); acoustic neuroma (Disease Ontology:DOID:12689); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); retinopathy of prematurity (Disease Ontology:DOID:13025); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); adhesions of uterus (Disease Ontology:DOID:13812); interstitial cystitis (Disease Ontology:DOID:13949); adult-onset Still's disease (Disease Ontology:DOID:14256); colon carcinoma (Disease Ontology:DOID:1520); acute chest syndrome (Disease Ontology:DOID:1584); congenital heart disease (Disease Ontology:DOID:1682); glaucoma (Disease Ontology:DOID:1686); neovascular glaucoma (Disease Ontology:DOID:1687); duodenal ulcer (Disease Ontology:DOID:1724); retinal vein occlusion (Disease Ontology:DOID:1727); melanoma (Disease Ontology:DOID:1909); autoimmune hepatitis (Disease Ontology:DOID:2048); colon cancer (Disease Ontology:DOID:219); opiate dependence (Disease Ontology:DOID:2559); larynx cancer (Disease Ontology:DOID:2596); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); glomerulonephritis (Disease Ontology:DOID:2921); granulosa cell tumor (Disease Ontology:DOID:2999); allergic contact dermatitis (Disease Ontology:DOID:3042); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gingivitis (Disease Ontology:DOID:3087); inverted papilloma (Disease Ontology:DOID:3179); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); neurofibrosarcoma (Disease Ontology:DOID:3512); middle cerebral artery infarction (Disease Ontology:DOID:3525); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); seminoma (Disease Ontology:DOID:4440); macular retinal edema (Disease Ontology:DOID:4449); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); brain edema (Disease Ontology:DOID:4724); liver cirrhosis (Disease Ontology:DOID:5082); renal Wilms' tumor (Disease Ontology:DOID:5176); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); uveal melanoma (Disease Ontology:DOID:6039); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); retinal telangiectasia (Disease Ontology:DOID:7736); extrinsic allergic alveolitis (Disease Ontology:DOID:841); dermatitis herpetiformis (Disease Ontology:DOID:8505); bullous pemphigoid (Disease Ontology:DOID:8506); chronic fatigue syndrome (Disease Ontology:DOID:8544); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); cholesteatoma (Disease Ontology:DOID:869); decubitus ulcer (Disease Ontology:DOID:8717); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); hepatopulmonary syndrome (Disease Ontology:DOID:900); sudden infant death syndrome (Disease Ontology:DOID:9007); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); diabetic neuropathy (Disease Ontology:DOID:9743); polyarteritis nodosa (Disease Ontology:DOID:9810); microvascular complications of diabetes, susceptibility to, 1 (MONDO:MONDO:0011386)",
"pathway": " (hsa:7422); (R-HSA-114608); (R-HSA-1234158); (R-HSA-194138); (R-HSA-194313); (R-HSA-195399); (R-HSA-6785807); (R-HSA-8866910)",
"pathway_count": 8,
"publication_count": 209,
"publication_id_list": "10023775;10067980;10202154;10219247;10369418;10464055;10497269;10510379;10586089;10648798;10867011;11004490;11058569;11063749;11084045;11104795;11120780;11156414;11278437;11278729;11352659;11356008;11387210;11404481;11427521;11463377;11532940;11563986;11731620;11959977;11959990;11960372;11978667;12124351;12223527;12242343;12600988;12832402;12871269;12881528;1417831;1435334;14630798;14634100;14668441;14712222;14744778;14764596;15116091;15184875;15261459;15297306;15340161;15520188;15584925;1567395;15805299;15869882;15870067;15896327;15950906;16007214;16048438;16107692;16205632;16236134;16258170;16397018;16451196;16489009;16510571;16540365;16606674;16633338;16835467;1711045;17427945;17446437;17458857;17572495;17804822;1791831;17998543;18187047;18243101;18353781;18447642;18644974;19054851;19124156;19185846;19318566;19397496;19788888;19843847;20112406;20493732;20581866;21102457;21252155;21479871;21689689;21730069;21937440;21994466;22009797;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23481700;23555662;23640497;23684889;23967200;24097101;24613356;24743777;2479986;2479987;24949972;25234944;25576301;25645385;25683712;25772240;25825981;2584205;26160453;26308378;26350504;26503042;26789244;26832794;27622074;27920218;28063628;28832583;29242379;29393594;29508533;29632046;30779550;31154438;31844290;31848261;34530889;35455969;39397482;6457647;7510216;7512451;7529288;7539918;7678805;7795521;7796300;7824266;7836384;7891714;7898939;7907877;8085155;8387214;8467233;8602263;8617204;8621622;8637916;8663118;8663540;8668165;8700872;8756616;8797861;8816495;8895516;8917528;9000051;9013879;9027736;9054410;9079689;9162057;9182571;9207067;9336848;9351807;9435229;9450968;9632793;9634701;9651359;9687504;9722576;9723655;9736340;9822602;9822675;9840812;9850080;9874564;9878851;9922142",
"class_list": "",
"function": "Association of the VEGF 2578C>A Polymorphism With Metabolic Syndrome and Erectile Dysfunction., [RefSeq, PubMed]; Binds to the KDR receptor but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth., [UniProtKB, PubMed]; Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth (PubMed:34530889). Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. Binds to the NRP1/neuropilin-1 receptor. Binding to NRP1 initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity). Also binds the DEAR/FBXW7-AS1 receptor (PubMed:17446437)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Includes data regarding non-AUG translation initiation (CUG) of VEGF, [RefSeq, PubMed, PubMed, PubMed]; Participates in the induction of key genes involved in the response to hypoxia and in the induction of angiogenesis such as HIF1A (PubMed:35455969). Involved in protecting cells from hypoxia-mediated cell death (By similarity)., [UniProtKB, UniProtKB, PubMed]; Study shows that VEGFA mRNA in mammalian endothelial cells undergoes programmed translational readthrough (PTR) generating VEGF-Ax, an isoform containing a unique 22-amino-acid C terminus extension. VEGF-Ax was detected in tissue slices from human brain, colon, small intestine, spleen, and pancreas and from serum from healthy human subjects., [RefSeq, PubMed]; This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]., [RefSeq]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
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"reported_n_glycosites": 1,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
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"reported_n_glycosites_with_glycan": 1,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 1,
"total_reported_o_glycosites": 0,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 1,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 5,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 108,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "B5BU86;H0Y2S8;H0Y407;H0Y414;H0Y462;H0Y8N2;H3BLW7;O60720;O75875;Q074Z4;Q16889;Q5UB46;Q6P0P5;Q96KJ0;Q96L82;Q96NW5;Q9H1W8;Q9H1W9;Q9UH58;Q9UL23",
"ec_number_list": [],
"go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0043183 vascular endothelial growth factor receptor 1 binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum",
"go_biological_process": "GO:1902966 positive regulation of protein localization to early endosome;GO:1903672 positive regulation of sprouting angiogenesis;GO:0097533 cellular stress response to acid chemical;GO:0060319 primitive erythrocyte differentiation;GO:0038033 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 21.2,
"record_id": "P15692-13",
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},
{
"uniprot_canonical_ac": "O14975-1",
"uniprot_id": [
{
"id": "S27A2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14975",
"type": "external"
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],
"mass": 70312.0,
"length": 620,
"protein_name": "Long-chain fatty acid transport protein 2",
"gene_name": "SLC27A2",
"organism": "Human",
"refseq_name": "long-chain fatty acid transport protein 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001153101",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153101",
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}
],
"gene_names_uniprotkb": "SLC27A2; ACSVL1; FACVL1; FATP2; VLACS",
"gene_names_refseq": "ACSVL1; FACVL1; FATP2; HsT17226; SLC27A2; VLACS; VLCS; hFACVL1",
"protein_names_uniprotkb": "Long-chain fatty acid transport protein 2; 6.2.1.-; 6.2.1.15; 6.2.1.24; 6.2.1.3; 6.2.1.7; Arachidonate--CoA ligase; FATP-2; Fatty acid transport protein 2; Fatty-acid-coenzyme A ligase, very long-chain 1; Long-chain-fatty-acid--CoA ligase; Phytanate--CoA ligase; Solute carrier family 27 member 2; THCA-CoA ligase; VLACS; VLCS; Very long-chain acyl-CoA synthetase; Very long-chain-fatty-acid-CoA ligase",
"protein_names_refseq": "FATP-2; THCA-CoA ligase; arachidonate--CoA ligase; fatty acid transport protein 2; fatty-acid-coenzyme A ligase, very long-chain 1; long-chain fatty acid transport protein 2 isoform 2; long-chain fatty acid transport protein 2; long-chain-fatty-acid--CoA ligase; phytanate--CoA ligase; solute carrier family 27 (fatty acid transporter), member 2; very long-chain acyl-CoA synthetase; very long-chain fatty-acid-coenzyme A ligase 1; very long-chain-fatty-acid-CoA ligase",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11001); (R-HSA-193368); (R-HSA-193775); (R-HSA-389599); (R-HSA-390247); (R-HSA-6798695); (R-HSA-75105); (R-HSA-9033241)",
"pathway_count": 8,
"publication_count": 186,
"publication_id_list": "10022913;10051404;10092594;10198260;10229681;10377398;10468558;10479480;10562279;10640429;10655068;10673331;10748047;10749848;10811639;11060344;11067870;11101887;11158055;11237011;11514237;11546814;11555634;11673457;11781871;11931631;11980911;12445829;12456682;12559034;12578380;12679481;12689621;12717447;12885776;13651131;1371749;1400444;14640697;15060085;15545321;15610069;15668256;15858711;15907797;16186124;16385454;1651711;16546181;16756494;1679347;16854592;16854980;16940157;17007944;1708392;17726030;17898086;17978863;18359941;18452278;18455495;18669648;18712838;19197237;19208625;19571038;19584060;19632994;20068231;20166139;20178365;2019602;20470824;20530735;20558530;21145416;21554508;21768100;21976670;21980954;22002062;22022213;22057399;22102020;22371489;22465940;22493507;22534643;22745130;22747494;23186163;23481700;23650620;23700546;2384150;23932781;23963456;24235149;24269233;24286864;24715725;24865970;25016021;25203508;25538232;25854684;26086376;26138649;26220973;26344566;26768311;26992070;27597759;27892461;28510447;28521612;28611990;28765278;28787099;28832583;29242379;29351928;29393594;29557506;30833945;30996346;31154438;31844290;31848261;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33219209;33500543;34087483;34171305;34854499;35051231;35251023;35580925;36169895;36215666;36241641;37172427;37217939;3805044;40596516;486181;5810867;627544;6798973;7508385;7567999;7649182;7719337;7732023;7790377;7901201;7909540;7916016;8034703;8387517;8692836;8824437;8858165;8902629;8943006;8991089;9089413;9090381;9090382;9090383;9166898;9341199;9539740;9653144;9660774;9662422;9668159;9837948;9874197",
"class_list": "",
"function": "Exhibits both long-chain fatty acids (LCFA) transport activity and acyl CoA synthetase towards very long-chain fatty acids (PubMed:10198260, PubMed:21768100). Shows a preference for generating CoA derivatives of n-3 fatty acids, which are preferentially trafficked into phosphatidylinositol (PubMed:21768100)., [UniProtKB, PubMed, PubMed]; Exhibits long-chain fatty acids (LCFA) transport activity but lacks acyl CoA synthetase towards very long-chain fatty acids., [UniProtKB, PubMed]; FATP2 regulates non-small cell lung cancer by mediating lipid metabolism through ACSL1., [RefSeq, PubMed]; Feedback loop between fatty acid transport protein 2 and receptor interacting protein 3 pathways promotes polymorphonuclear neutrophil myeloid-derived suppressor cells-potentiated suppressive immunity in bladder cancer., [RefSeq, PubMed]; Involvement of FATP2-mediated tubular lipid metabolic reprogramming in renal fibrogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport across cell membranes, playing an important role in hepatic fatty acid uptake (PubMed:10198260, PubMed:10749848, PubMed:11980911, PubMed:20530735, PubMed:22022213, PubMed:24269233). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake (PubMed:10198260, PubMed:10749848, PubMed:11980911, PubMed:20530735, PubMed:22022213, PubMed:24269233). Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis (PubMed:20530735). Can also activate branched-chain fatty acids such as phytanic acid and pristanic acid (PubMed:10198260). May contribute to the synthesis of sphingosine-1-phosphate (PubMed:24269233). Does not activate C24 bile acids, cholate and chenodeoxycholate (PubMed:11980911). In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). However, it is not critical for THCA activation and bile synthesis in vivo (PubMed:20530735)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mouse and human polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs) exclusively upregulate fatty acid transport protein 2 (FATP2); FATP2 mediates the acquisition of immunosuppressive activity by PMN-MDSCs and represents a target to inhibit the functions of PMN-MDSCs selectively and to improve the efficiency of cancer therapy, [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]., [RefSeq]; Upregulated SLC27A2/FATP2 in differentiated thyroid carcinoma promotes tumor proliferation and migration., [RefSeq, PubMed]",
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],
"go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity",
"go_cellular_component": "GO:0005778 peroxisomal membrane;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0035579 specific granule membrane",
"go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0006699 bile acid biosynthetic process;GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0046949 fatty-acyl-CoA biosynthetic process",
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},
{
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],
"mass": 134134.0,
"length": 1222,
"protein_name": "BOS complex subunit NOMO3",
"gene_name": "NOMO3",
"organism": "Human",
"refseq_name": "BOS complex subunit NOMO3 precursor",
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{
"id": "NP_001004067",
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],
"gene_names_uniprotkb": "NOMO3",
"gene_names_refseq": "NOMO3; Nomo",
"protein_names_uniprotkb": "BOS complex subunit NOMO3; Nodal modulator 3; pM5 protein 3",
"protein_names_refseq": "BOS complex subunit NOMO3 precursor; BOS complex subunit NOMO3; pM5 protein 3; pM5 protein, middle copy",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:408050)",
"pathway_count": 1,
"publication_count": 56,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;17261586;20112406;20538592;23090970;24190977;24397554;25502872;25880248;26154972;26992070;27846572;27862975;28218747;28467828;28904123;29437277;29741879;29786170;30315122;31217245;31844290;32350084;32357974;32387766;32488085;32502341;32820719;32897882;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33981976;34087483;34171305;34357683;34405274;34433824;34509645;35051231;35318648;35561310;35580925;36010968;36241641;36261522;38665916;39534244;40307207",
"class_list": "",
"function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 1,
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"predicted_s_glycosites": 0,
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"reported_glycation": 0,
"reported_snv": 21,
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"biomarker_type": "",
"glycan_count": 11,
"disease_count": 0,
"glyco_site_count": 11,
"binding_glycan_count": 0,
"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0030246 carbohydrate binding;GO:0043022 ribosome binding",
"go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0160064 multi-pass translocon complex",
"go_biological_process": "GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:1900108 negative regulation of nodal signaling pathway;GO:0160063 multi-pass transmembrane protein insertion into ER membrane",
"synthesized_glycan_count": 0,
"hit_score": 7.8,
"record_id": "P69849-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.1100000001000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NA56-1",
"uniprot_id": [
{
"id": "TTC29_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NA56",
"type": "external"
}
],
"mass": 55082.0,
"length": 475,
"protein_name": "Tetratricopeptide repeat protein 29",
"gene_name": "TTC29",
"organism": "Human",
"refseq_name": "tetratricopeptide repeat protein 29 isoform 1",
"refseq_ac": [
{
"id": "NP_001287690",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287690",
"type": "external"
}
],
"gene_names_uniprotkb": "TTC29",
"gene_names_refseq": "NYD-SP14; SPGF42; TBPP2A; TTC29",
"protein_names_uniprotkb": "Tetratricopeptide repeat protein 29; Protein TBPP2A; TPR repeat protein 29; Testis development protein NYD-SP14",
"protein_names_refseq": "TPR repeat protein 29; testicular secretory protein Li 62; testis development protein NYD-SP14; tetratricopeptide repeat protein 29 isoform 1; tetratricopeptide repeat protein 29",
"tax_id": 9606,
"disease": "spermatogenic failure 42 (Disease Ontology:DOID:0111923)",
"pathway": " (hsa:83894)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "11237011;28005267;29351928;30429286;31735292;31735294;32938616;35580925;37934199",
"class_list": "",
"function": "Axonemal protein which is implicated in axonemal and/or peri-axonemal structure assembly and regulates flagellum assembly and beating and therefore sperm motility., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutations in TTC29 results in Asthenozoospermia and Male Infertility., [RefSeq, PubMed]; Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. Publication Status: Online-Only, [RefSeq, PubMed]; TTC29 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"binding_glycan_count": 0,
"secondary_ac_list": "A4GU95;Q9BXB6",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0036126 sperm flagellum;GO:0097228 sperm principal piece;GO:0005737 cytoplasm",
"go_biological_process": "GO:0003341 cilium movement;GO:0044782 cilium organization",
"synthesized_glycan_count": 0,
"hit_score": 1.2,
"record_id": "Q8NA56-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z4N2-1",
"uniprot_id": [
{
"id": "TRPM1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z4N2",
"type": "external"
}
],
"mass": 182178.0,
"length": 1603,
"protein_name": "Transient receptor potential cation channel subfamily M member 1",
"gene_name": "TRPM1",
"organism": "Human",
"refseq_name": "transient receptor potential cation channel subfamily M member 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001238949",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238949",
"type": "external"
}
],
"gene_names_uniprotkb": "TRPM1; LTRPC1; MLSN1; MLSN",
"gene_names_refseq": "CSNB1C; LTRPC1; MLSN1; TRPM1",
"protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 1; LTrpC1; Long transient receptor potential channel 1; Melastatin-1",
"protein_names_refseq": "TRPM1-203 APA Isoform, Intron 10; TRPM1-203 APA Isoform, Intron 3; long transient receptor potential channel 1; melastatin-1; transient receptor potential cation channel subfamily M member 1 isoform 1; transient receptor potential melastatin family",
"tax_id": 9606,
"disease": "congenital stationary night blindness (Disease Ontology:DOID:0050534); MASA syndrome (Disease Ontology:DOID:0060246); chromosome 15q13.3 microdeletion syndrome (Disease Ontology:DOID:0060394); congenital stationary night blindness 1C (Disease Ontology:DOID:0110867)",
"pathway": " (hsa:4308); (R-HSA-3295583); (R-HSA-9824594)",
"pathway_count": 3,
"publication_count": 45,
"publication_id_list": "11050376;11112417;11226139;11237011;11243859;11301059;11535825;12015988;1422598;14634208;14744763;15507434;17081983;18327259;19436059;19878917;19896109;19896113;20025796;20716668;21278253;21290293;22647378;25142731;25389312;25765567;25855297;27600516;29786170;29789417;30192525;30429286;30804224;31844290;32157095;32387766;33968037;35051231;35494241;35633130;36010968;36585114;36649236;9537257;9806836",
"class_list": "",
"function": "Clinical and genetic findings in TRPM1-related congenital stationary night blindness., [RefSeq, PubMed]; Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization (PubMed:11535825, PubMed:19436059, PubMed:21278253). Impermeable to zinc ions (PubMed:21278253). In addition, forms heteromultimeric ion channels with TRPM3 which are permeable for calcium and zinc ions (PubMed:21278253). Plays an essential role for the depolarizing photoresponse of retinal ON bipolar cells (PubMed:19878917, PubMed:19896109). In the dark, tonic release of glutamate activates the G protein-coupled receptor for glutamate, GRM6, its activation induces the release of G(o) protein and the beta-gamma G protein dimer. Both subunits can interact and inactivate the TRPM1 channel. A light onset, induces decrease in glutamate release and deactivation of GRM6 leading to channel opening and membrane depolarization (By similarity). May play a role in metastasis suppression (PubMed:9537257)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Summarize and discuss our present knowledge of TRPM1: its discovery, expression, regulation, and proposed functions in skin and eye Review article, [RefSeq, PubMed]; TRPM1 promotes tumor progression in acral melanoma by activating the Ca[2+]/CaMKIIdelta/AKT pathway., [RefSeq, PubMed]; The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]., [RefSeq]",
"predicted_glycosites": 2,
"predicted_n_glycosites": 1,
"predicted_o_glycosites": 1,
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"total_reported_n_glycosites": 0,
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"reported_phosphosites": 4,
"reported_mutagensis": 2,
"reported_glycation": 0,
"reported_snv": 26,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
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"glyco_site_count": 2,
"binding_glycan_count": 0,
"secondary_ac_list": "D9IDV2;D9IDV3;F8W865;H0YN37;O75560;Q6PE48;Q7Z4N1;Q7Z4N3;Q7Z4N4;Q7Z4N5",
"ec_number_list": [
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0005262 calcium channel activity;GO:0008324 monoatomic cation transmembrane transporter activity;GO:0046873 metal ion transmembrane transporter activity;GO:0005261 monoatomic cation channel activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0030424 axon;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0051262 protein tetramerization;GO:0006816 calcium ion transport;GO:0007601 visual perception;GO:0098655 monoatomic cation transmembrane transport;GO:0070588 calcium ion transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 4.6,
"record_id": "Q7Z4N2-1",
"record_type": "protein",
"filter_code": "0000000.1100111.010000.000000000001000000.0000000011001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q13183-1",
"uniprot_id": [
{
"id": "S13A2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13183",
"type": "external"
}
],
"mass": 64410.0,
"length": 592,
"protein_name": "Solute carrier family 13 member 2",
"gene_name": "SLC13A2",
"organism": "Human",
"refseq_name": "solute carrier family 13 member 2 isoform a",
"refseq_ac": [
{
"id": "NP_001139447",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139447",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC13A2; NADC1; SDCT1",
"gene_names_refseq": "NADC1; NaCT; NaDC-1; SDCT1; SLC13A2",
"protein_names_uniprotkb": "Solute carrier family 13 member 2; Na(+)/dicarboxylate cotransporter 1; NaDC-1; Renal sodium/dicarboxylate cotransporter",
"protein_names_refseq": "Na(+)-coupled citrate transporter; Na(+)/dicarboxylate cotransporter 1; renal sodium/dicarboxylate cotransporter; solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2; solute carrier family 13 member 2 isoform a",
"tax_id": 9606,
"disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667); Kohlschutter-Tonz syndrome (Disease Ontology:DOID:0111668); epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:9058); (R-HSA-9955298)",
"pathway_count": 2,
"publication_count": 18,
"publication_id_list": "10794676;10894787;11237011;12445824;15620109;17470169;23481700;27927654;30155711;31154438;31844290;32488085;34087483;34458928;35051231;38552027;8967342;9668069",
"class_list": "",
"function": "Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism., [RefSeq, PubMed]; Data show that the sodium-dependent dicarboxylate co-transporter protein 1 is located in renal proximal tubule lumenal membranes, and that the C-terminal sequence is required for delivery and targeting and may contain the signal sequence., [RefSeq, PubMed]; Homozygous GG of rs11567842 SNP in NaDC-1 gene was a protective genotype for hypocitraturia in kidney stone patients, [RefSeq, PubMed]; Low-affinity sodium-dicarboxylate cotransporter, that mediates the entry of citric acid cycle intermediates, such as succinate, citrate, fumarate and alpha-ketoglutarate (2-oxoglutarate) into the small intestine and renal proximal tubule (PubMed:10894787, PubMed:8967342, PubMed:9668069, PubMed:38552027). Transports the dicarboxylate into the cell with a probable stoichiometry of 3 Na(+) for 1 divalent dicarboxylate, rendering the process electrogenic (PubMed:10894787, PubMed:8967342, PubMed:9668069). Citrate is transported in protonated form as a divalent anion, rather than the trivalent form which is normally found in blood (PubMed:10894787). Has a critical role in renal dicarboxylate transport (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; SLC26A6 and NADC1: Future direction of nephrolithiasis and calculusrelated hypertension research (Review). Review article, [RefSeq, PubMed]; The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]., [RefSeq]; This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT)., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 4,
"reported_glycation": 0,
"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 3,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B2RBI9;B4DPL1;E7ETH5;Q4VAR7",
"ec_number_list": [],
"go_molecular_function": "GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0017153 sodium:dicarboxylate symporter activity;GO:0015361 low-affinity sodium:dicarboxylate symporter activity;GO:0015141 succinate transmembrane transporter activity;GO:0015138 fumarate transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0015711 organic anion transport;GO:0071285 cellular response to lithium ion;GO:0015742 alpha-ketoglutarate transport;GO:0071422 succinate transmembrane transport;GO:0015741 fumarate transport",
"synthesized_glycan_count": 0,
"hit_score": 1.9,
"record_id": "Q13183-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NFH4-1",
"uniprot_id": [
{
"id": "NUP37_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NFH4",
"type": "external"
}
],
"mass": 36708.0,
"length": 326,
"protein_name": "Nucleoporin Nup37",
"gene_name": "NUP37",
"organism": "Human",
"refseq_name": "nucleoporin Nup37",
"refseq_ac": [
{
"id": "NP_076962",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_076962",
"type": "external"
}
],
"gene_names_uniprotkb": "NUP37",
"gene_names_refseq": "MCPH24; NUP37; p37",
"protein_names_uniprotkb": "Nucleoporin Nup37; Nup107-160 subcomplex subunit Nup37; p37",
"protein_names_refseq": "nucleoporin 37kDa; nucleoporin Nup37; nup107-160 subcomplex subunit Nup37",
"tax_id": 9606,
"disease": "primary autosomal recessive microcephaly 24 (Disease Ontology:DOID:0051035)",
"pathway": " (hsa:79023); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)",
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"class_list": "",
"function": "Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation., [UniProtKB, PubMed, PubMed]; DEPDC1B is involved in the proliferation, metastasis, cell cycle arrest and apoptosis of colon cancer cells by regulating NUP37., [RefSeq, PubMed]; Demethylation at enhancer upregulates MCM2 and NUP37 expression predicting poor survival in hepatocellular carcinoma patients. Erratum:[J Transl Med. 2022 Dec 13;20(1):594. doi: 10.1186/s12967-022-03766-0. PMID: 36514057] Publication Status: Online-Only, [RefSeq, PubMed]; NUP37 accumulation mediated by TRIM28 enhances lipid synthesis to accelerate HCC progression., [RefSeq, PubMed]; Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]., [RefSeq]; Nucleoporin37 may play a role in early embryo development in human and mice., [RefSeq, PubMed]",
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"secondary_ac_list": "Q9H644",
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"go_molecular_function": "",
"go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0007059 chromosome segregation;GO:0015031 protein transport;GO:0051301 cell division;GO:0051028 mRNA transport",
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},
{
"uniprot_canonical_ac": "Q96AY4-1",
"uniprot_id": [
{
"id": "TTC28_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96AY4",
"type": "external"
}
],
"mass": 270884.0,
"length": 2481,
"protein_name": "Tetratricopeptide repeat protein 28",
"gene_name": "TTC28",
"organism": "Human",
"refseq_name": "tetratricopeptide repeat protein 28 isoform 1",
"refseq_ac": [
{
"id": "NP_001138890",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138890",
"type": "external"
}
],
"gene_names_uniprotkb": "TTC28; KIAA1043; TPRBK",
"gene_names_refseq": "TPRBK; TTC28",
"protein_names_uniprotkb": "Tetratricopeptide repeat protein 28; TPR repeat protein 28; TPR repeat-containing big gene cloned at Keio",
"protein_names_refseq": "TPR repeat protein 28; TPR repeat-containing big gene cloned at Keio; TPR-containing big gene cloned at Keio; tetratricopeptide repeat protein 28 isoform 1; tetratricopeptide repeat protein 28",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23331)",
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"class_list": "",
"function": "During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observations indicated that a novel big protein TPRBK is essential for the formation and integrity of the midbody, hence we postulated that TPRBK plays a critical role in the progress of mitosis and cytokinesis during mammalian cell cycle, [RefSeq, PubMed]",
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"secondary_ac_list": "K7ZRV2;O95928;O95929;Q5W189;Q9NTE4;Q9UG31;Q9UGG5;Q9UPV8;Q9Y3S5",
"ec_number_list": [],
"go_molecular_function": "GO:0019900 kinase binding",
"go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0030496 midbody",
"go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle",
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"hit_score": 7.0,
"record_id": "Q96AY4-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96CB9-1",
"uniprot_id": [
{
"id": "NSUN4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96CB9",
"type": "external"
}
],
"mass": 43089.0,
"length": 384,
"protein_name": "5-cytosine rRNA methyltransferase NSUN4",
"gene_name": "NSUN4",
"organism": "Human",
"refseq_name": "5-cytosine rRNA methyltransferase NSUN4 isoform b",
"refseq_ac": [
{
"id": "NP_001243056",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243056",
"type": "external"
}
],
"gene_names_uniprotkb": "NSUN4",
"gene_names_refseq": "NSUN4; SHTAP",
"protein_names_uniprotkb": "5-cytosine rRNA methyltransferase NSUN4; 2.1.1.-; 5-cytosine tRNA methyltransferase NSUN4; NOL1/NOP2/Sun domain family member 4; mRNA cytosine C(5)-methyltransferase NSUN4",
"protein_names_refseq": "5-cytosine rRNA methyltransferase NSUN4 isoform b; 5-cytosine rRNA methyltransferase NSUN4; 5-cytosine tRNA methyltransferase NSUN4; 5-methylcytosine rRNA methyltransferase NSUN4; 5-methylcytosine tRNA methyltransferase NSUN4; NOL1/NOP2/Sun domain family member 4; NOP2/Sun RNA methyltransferase family member 4; NOP2/Sun domain family, member 4; mRNA cytosine C(5)-methyltransferase NSUN4; putative methyltransferase NSUN4; sperm head and tail associated protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:387338); (R-HSA-6793080)",
"pathway_count": 2,
"publication_count": 47,
"publication_id_list": "11237011;11809803;12496758;15110318;18669648;19086053;19356719;19417006;19664994;20068231;21531335;22341444;22949673;23022348;23186163;23303773;23804760;24036117;25009282;25074936;26464487;26992070;27667664;27974379;28082677;28228285;28514659;28832583;28834231;29242379;29786170;30315122;31154438;31217245;31844290;32157095;33141586;33298915;33392160;34171305;34185709;34357683;34744073;36010968;37938771;38876383;39019044",
"class_list": "",
"function": "Analysis of the 3D crystal structure of the human MTERF4-NSUN4 complex, [RefSeq, PubMed]; M5C RNA methyltransferase-related gene NSUN4 stimulates malignant progression of hepatocellular carcinoma and can be a prognostic marker., [RefSeq, PubMed]; Mitochondrial RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as rRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:21531335, PubMed:23022348, PubMed:39019044). Involved in mitochondrial ribosome small subunit (SSU) maturation by catalyzing methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU) (PubMed:21531335, PubMed:23022348). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled (PubMed:21531335, PubMed:23022348). In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4 (PubMed:23022348). Also acts as a regulator of innate immunity by marking double-stranded mitochondrial RNAs(mt-dsRNAs) generated in response to stress: catalyzes m5C modification on mitochondrial RNAs, such as a mRNAs and lncRNAs, with a preference for the termini of light-strand lncRNAs, promoting their degradation and cytosolic release (PubMed:39019044). Modified light-strand lncRNAs are then recognized by C1QBP reader and recruited to the mitochondrial degradosome complex, which promotes their degradation (PubMed:39019044)., [UniProtKB, PubMed, PubMed, PubMed]; NSUN4 mediated RNA 5-methylcytosine promotes the malignant progression of glioma through improving the CDC42 mRNA stabilization. Erratum:[Cancer Lett. 2025 Feb 1;610:217351. doi: 10.1016/j.canlet.2024.217351. PMID: 39616022], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"missing_score": 10000,
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"secondary_ac_list": "A8K6S6;B3KQ50;B4DHA4;Q5TDF7;Q96AN8;Q9HAJ8",
"ec_number_list": [
{
"id": "2.1.1.203",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.203",
"type": "external"
},
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0009383 rRNA (cytosine-C5-)-methyltransferase activity;GO:0008168 methyltransferase activity;GO:0008649 rRNA methyltransferase activity;GO:0008173 RNA methyltransferase activity;GO:0062152 mRNA (cytidine-5-)-methyltransferase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix",
"go_biological_process": "GO:0031167 rRNA methylation;GO:0006364 rRNA processing;GO:0000957 mitochondrial RNA catabolic process;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:1900864 mitochondrial RNA modification",
"synthesized_glycan_count": 0,
"hit_score": 4.8,
"record_id": "Q96CB9-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NG11-1",
"uniprot_id": [
{
"id": "TSN14_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NG11",
"type": "external"
}
],
"mass": 30691.0,
"length": 270,
"protein_name": "Tetraspanin-14",
"gene_name": "TSPAN14",
"organism": "Human",
"refseq_name": "tetraspanin-14 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001121781",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121781",
"type": "external"
}
],
"gene_names_uniprotkb": "TSPAN14; TM4SF14",
"gene_names_refseq": "DC-TM4F2; TM4SF14; TSPAN14; tspan-14",
"protein_names_uniprotkb": "Tetraspanin-14; DC-TM4F2; Transmembrane 4 superfamily member 14; Tspan-14",
"protein_names_refseq": "tetraspanin similar to TM4SF9; tetraspanin-14 isoform 2 precursor; transmembrane 4 superfamily member 14",
"tax_id": 9606,
"disease": "cancer (Disease Ontology:DOID:162)",
"pathway": " (hsa:81619); (R-HSA-6798695); (R-HSA-977225)",
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"function": "Data suggest that large extracellular loop of Tspan14 mediates interaction with ADAM10, promotes ADAM10 maturation/trafficking to cell surface, and affects ADAM10 substrate specificity; ADAM10/Tspan14 interact in platelets/vascular endothelial cells., [RefSeq, PubMed]; Genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion, [RefSeq, PubMed]; Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates (PubMed:23035126, PubMed:26668317, PubMed:26686862, PubMed:37516108). Negatively regulates ADAM10-mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]",
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"go_molecular_function": "GO:0019899 enzyme binding",
"go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane",
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},
{
"uniprot_canonical_ac": "Q8N1F7-1",
"uniprot_id": [
{
"id": "NUP93_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N1F7",
"type": "external"
}
],
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"protein_name": "Nuclear pore complex protein Nup93",
"gene_name": "NUP93",
"organism": "Human",
"refseq_name": "nuclear pore complex protein Nup93 isoform 2",
"refseq_ac": [
{
"id": "NP_001229724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229724",
"type": "external"
}
],
"gene_names_uniprotkb": "NUP93; KIAA0095",
"gene_names_refseq": "NIC96; NUP93",
"protein_names_uniprotkb": "Nuclear pore complex protein Nup93; 93 kDa nucleoporin; Nucleoporin Nup93",
"protein_names_refseq": "93 kDa nucleoporin; nuclear pore complex protein Nup93 isoform 2; nuclear pore complex protein Nup93; nucleoporin 93kDa; nucleoporin Nup93",
"tax_id": 9606,
"disease": "nephrotic syndrome type 12 (Disease Ontology:DOID:0080387)",
"pathway": " (hsa:9688); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)",
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"class_list": "",
"function": "Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model., [RefSeq, PubMed]; Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Nucleoporin93 limits Yap activity to prevent endothelial cell senescence., [RefSeq, PubMed]; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]; Transcription Factor yin-Yang 1 augments nucleoporin 93 oncogene activity and modulates bladder Cancer malignancy., [RefSeq, PubMed]",
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"secondary_ac_list": "B3KPQ8;Q14705",
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"go_molecular_function": "GO:0017056 structural constituent of nuclear pore",
"go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane",
"go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0006998 nuclear envelope organization;GO:0051292 nuclear pore complex assembly;GO:0060391 positive regulation of SMAD protein signal transduction",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P49116-1",
"uniprot_id": [
{
"id": "NR2C2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49116",
"type": "external"
}
],
"mass": 65414.0,
"length": 596,
"protein_name": "Nuclear receptor subfamily 2 group C member 2",
"gene_name": "NR2C2",
"organism": "Human",
"refseq_name": "nuclear receptor subfamily 2 group C member 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001278623",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278623",
"type": "external"
}
],
"gene_names_uniprotkb": "NR2C2; TAK1; TR4",
"gene_names_refseq": "NR2C2; TAK1; TR4",
"protein_names_uniprotkb": "Nuclear receptor subfamily 2 group C member 2; Orphan nuclear receptor TAK1; Orphan nuclear receptor TR4; Testicular receptor 4",
"protein_names_refseq": "Nuclear hormone receptor TR4; nuclear receptor subfamily 2 group C member 2 isoform 2; orphan nuclear receptor TAK1; orphan nuclear receptor TR4; orphan receptor TR4; testicular nuclear receptor 4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7182); (R-HSA-383280); (R-HSA-9940951)",
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"class_list": "",
"function": "HDAC6-dependent deacetylation of TAK1 enhances sIL-6R release to promote macrophage M2 polarization in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Plays a fundamental role in early embryonic development and embryonic stem cells. Required for normal spermatogenesis and cerebellum development. Appears to be important for neurodevelopmentally regulated behavior (By similarity). Activates transcriptional activity of LHCG. Antagonist of PPARA-mediated transactivation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Structures of human TR4LBD-JAZF1 and TR4DBD-DNA complexes reveal the molecular basis of transcriptional regulation., [RefSeq, PubMed]; TR4 worsen urosepsis by regulating GSDMD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]., [RefSeq]; Thrombospondin-1 Regulates Trophoblast Necroptosis via NEDD4-Mediated Ubiquitination of TAK1 in Preeclampsia., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005737 cytoplasm",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0007399 nervous system development;GO:0030154 cell differentiation",
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},
{
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{
"id": "S19A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BZV2",
"type": "external"
}
],
"mass": 55665.0,
"length": 496,
"protein_name": "Thiamine transporter 2",
"gene_name": "SLC19A3",
"organism": "Human",
"refseq_name": "thiamine transporter 2 isoform 1",
"refseq_ac": [
{
"id": "NP_079519",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_079519",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC19A3",
"gene_names_refseq": "BBGD; SLC19A3; THMD2; THTR2; hTHTR2; thTr-2",
"protein_names_uniprotkb": "Thiamine transporter 2; Solute carrier family 19 member 3; ThTr-2; ThTr2",
"protein_names_refseq": "solute carrier family 19 (thiamine transporter), member 3; thiamine transporter 2 isoform 1; thiamine transporter 2",
"tax_id": 9606,
"disease": "biotin-responsive basal ganglia disease (Disease Ontology:DOID:0050659); chronic kidney disease (Disease Ontology:DOID:784)",
"pathway": " (hsa:80704); (R-HSA-196819)",
"pathway_count": 2,
"publication_count": 25,
"publication_id_list": "10391221;10391222;10391223;11136550;11237011;11342111;11342117;11731220;11827967;14615284;14770311;15871139;16371350;16705148;16790503;18280798;19159218;20583149;29557506;33008889;35051231;35512554;35724964;36456177;39358356",
"class_list": "",
"function": "Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964, PubMed:36456177)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity., [UniProtKB, UniProtKB]; Structural basis of thiamine transport and drug recognition by SLC19A3. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]., [RefSeq]",
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0015234 thiamine transmembrane transporter activity;GO:0090482 vitamin transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0009229 thiamine diphosphate biosynthetic process;GO:0015888 thiamine transport;GO:0042723 thiamine-containing compound metabolic process;GO:0071934 thiamine transmembrane transport;GO:0031923 pyridoxine transport",
"synthesized_glycan_count": 0,
"hit_score": 2.7,
"record_id": "Q9BZV2-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5TFE4-1",
"uniprot_id": [
{
"id": "NT5D1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5TFE4",
"type": "external"
}
],
"mass": 51845.0,
"length": 455,
"protein_name": "5'-nucleotidase domain-containing protein 1",
"gene_name": "NT5DC1",
"organism": "Human",
"refseq_name": "5'-nucleotidase domain-containing protein 1",
"refseq_ac": [
{
"id": "NP_689942",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_689942",
"type": "external"
}
],
"gene_names_uniprotkb": "NT5DC1; LP2642; NT5C2L1",
"gene_names_refseq": "C6orf200; LP2642; NT5C2L1; NT5DC1",
"protein_names_uniprotkb": "5'-nucleotidase domain-containing protein 1; 3.1.3.-",
"protein_names_refseq": "5'-nucleotidase domain-containing protein 1; 5'-nucleotidase, cytosolic II-like 1 protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:221294)",
"pathway_count": 1,
"publication_count": 71,
"publication_id_list": "11237011;15498874;18978678;19608861;19913121;23301498;24366607;24714562;24715725;25576301;25645385;25880248;25892735;26728094;26992070;27600516;27862975;27920218;28063628;28218747;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;30192525;30315122;30429286;30489189;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34357683;34932366;35051231;35132862;35318648;35580925;36010968;36241641;36284347;37938771;38665916;40914422",
"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression., [RefSeq, PubMed]; While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]., [RefSeq]",
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"secondary_ac_list": "B2RND9;B3KR35;Q6XYD5",
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"go_molecular_function": "GO:0046872 metal ion binding;GO:0008253 5'-nucleotidase activity;GO:0016787 hydrolase activity",
"go_cellular_component": "",
"go_biological_process": "",
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"hit_score": 7.4,
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},
{
"uniprot_canonical_ac": "Q8NCW5-1",
"uniprot_id": [
{
"id": "NNRE_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NCW5",
"type": "external"
}
],
"mass": 31675.0,
"length": 288,
"protein_name": "NAD(P)H-hydrate epimerase",
"gene_name": "NAXE",
"organism": "Human",
"refseq_name": "NAD(P)H-hydrate epimerase precursor",
"refseq_ac": [
{
"id": "NP_658985",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_658985",
"type": "external"
}
],
"gene_names_uniprotkb": "NAXE; AIBP; APOA1BP; YJEFN1",
"gene_names_refseq": "AIBP; APOA1BP; NAXE; PEBEL; YJEFN1",
"protein_names_uniprotkb": "NAD(P)H-hydrate epimerase; 5.1.99.6; AI-BP; Apolipoprotein A-I-binding protein; NAD(P)HX epimerase; NAXE; YjeF N-terminal domain-containing protein 1; YjeF_N1",
"protein_names_refseq": "AI-BP; NAD(P)H-hydrate epimerase precursor; NAD(P)H-hydrate epimerase; apoA-I binding protein; apolipoprotein A-I-binding protein; yjeF N-terminal domain-containing protein 1; yjeF_N1",
"tax_id": 9606,
"disease": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 (MONDO:MONDO:0020781)",
"pathway": " (hsa:128240); (R-HSA-196807)",
"pathway_count": 2,
"publication_count": 114,
"publication_id_list": "10.1038/emboj.2013.79;10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17402747;17521614;17604275;17641676;17868694;17914902;18202122;18411268;19531469;20388704;20634891;20855565;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23584533;23719382;24715725;24717514;24847004;25531177;25576301;25892735;26154972;26375851;26811146;26992070;27122014;27616477;27846572;28228285;28510447;28832583;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632711;29786170;30429286;30484775;30573663;31154438;31844290;31848261;31937595;32157095;32161166;32265295;32387766;32502341;32870666;32897882;32906142;32983136;33087354;33091337;33298915;33592498;33717175;33798445;33912179;33968037;34120322;34357683;35051231;35251023;35318648;35561310;35819538;36241641;36284347;36581221;36773198;37832842;4349867;8182091;8289818;8527488;8575745;8809081;9473669",
"class_list": "",
"function": "A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy., [RefSeq, PubMed]; Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1alpha Activation., [RefSeq, PubMed]; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration (By similarity) (PubMed:27616477). This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX (By similarity). Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382)., [UniProtKB, HAMAP, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation., [RefSeq, PubMed]; Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Taken together, the current study demonstrates that APN might protect against atherosclerosis by increasing HDL assembly through enhancing ABCA1 pathway and apoA-1 synthesis in the liver., [RefSeq, PubMed]; The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B4DGY3;Q496C6;Q5T3I2",
"ec_number_list": [
{
"id": "5.1.99.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.6",
"type": "external"
}
],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0052856 NAD(P)HX epimerase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol",
"go_biological_process": "GO:0006869 lipid transport;GO:0016525 negative regulation of angiogenesis;GO:0002040 sprouting angiogenesis;GO:0010874 regulation of cholesterol efflux;GO:0046496 nicotinamide nucleotide metabolic process",
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},
{
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{
"id": "RWDD4_HUMAN",
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"type": "external"
}
],
"mass": 21251.0,
"length": 188,
"protein_name": "RWD domain-containing protein 4",
"gene_name": "RWDD4",
"organism": "Human",
"refseq_name": "RWD domain-containing protein 4 isoform 2",
"refseq_ac": [
{
"id": "NP_001294851",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294851",
"type": "external"
}
],
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"gene_names_refseq": "FAM28A; RWDD4A; RWDD4",
"protein_names_uniprotkb": "RWD domain-containing protein 4; Protein FAM28A",
"protein_names_refseq": "RWD domain containing 4A; RWD domain-containing protein 4 isoform 2; RWD domain-containing protein 4A; family with sequence similarity 28, member A",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:201965)",
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},
{
"uniprot_canonical_ac": "Q96BU1-1",
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{
"id": "S1PBP_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96BU1",
"type": "external"
}
],
"mass": 45582.0,
"length": 408,
"protein_name": "S100P-binding protein",
"gene_name": "S100PBP",
"organism": "Human",
"refseq_name": "S100P-binding protein",
"refseq_ac": [
{
"id": "NP_001243050",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243050",
"type": "external"
}
],
"gene_names_uniprotkb": "S100PBP; S100PBPR",
"gene_names_refseq": "S100PBPR; S100PBP",
"protein_names_uniprotkb": "S100P-binding protein; S100P-binding protein Riken",
"protein_names_refseq": "S100P binding protein 1; S100P-binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:64766)",
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"publication_id_list": "11237011;15632002;18089492;22330678;22424782;22645359;23186163;23481700;24714562;24715725;25156441;25418920;25576301;25645385;25880248;26024233;26154972;26375851;26728094;26992070;27600516;28514659;28832583;28904123;29242379;29493099;29508533;29557506;29786170;30379171;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35318648;35561310;35580925;36010968;36241641;37794133",
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"function": "Can be added to the genetic progression model for pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Low S100PBP expression is associated with cervical cancer., [RefSeq, PubMed]; S100P is a sensitive and specific marker for the detection of pancreatic ductal adenocarcinoma on FNAB specimens on cell-block and smear preparations., [RefSeq, PubMed]; S100P-binding protein mediates adhesion through regulation of cathepsin Z in pancreatic cancer cells., [RefSeq, PubMed]; S100PBP is regulated by mutated KRAS and plays a tumour suppressor role in pancreatic cancer., [RefSeq, PubMed]; This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]., [RefSeq]",
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"secondary_ac_list": "B3KR04;D3DPQ5;Q5HYH3;Q9H997",
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"go_molecular_function": "GO:0048306 calcium-dependent protein binding",
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},
{
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"uniprot_id": [
{
"id": "NOBOX_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60393",
"type": "external"
}
],
"mass": 73906.0,
"length": 691,
"protein_name": "Homeobox protein NOBOX",
"gene_name": "NOBOX",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "NOBOX",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Homeobox protein NOBOX",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "primary ovarian insufficiency 5 (Disease Ontology:DOID:0080862)",
"pathway": " (hsa:135935)",
"pathway_count": 1,
"publication_count": 10,
"publication_id_list": "11237011;16597639;17701902;21837770;25514101;27798098;28411811;29557506;32157095;35051231",
"class_list": "",
"function": "Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'., [UniProtKB, PubMed, PubMed]",
"predicted_glycosites": 2,
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"secondary_ac_list": "A6NCD3;A8MZN5",
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"go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0048477 oogenesis",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H339-1",
"uniprot_id": [
{
"id": "O51B5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H339",
"type": "external"
}
],
"mass": 35241.0,
"length": 312,
"protein_name": "Olfactory receptor 51B5",
"gene_name": "OR51B5",
"organism": "Human",
"refseq_name": "olfactory receptor 51B5",
"refseq_ac": [
{
"id": "NP_001005567",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005567",
"type": "external"
}
],
"gene_names_uniprotkb": "OR51B5",
"gene_names_refseq": "HOR5'Beta5; OR11-37; OR51B5",
"protein_names_uniprotkb": "Olfactory receptor 51B5; Odorant receptor HOR5'beta5; Olfactory receptor OR11-37",
"protein_names_refseq": "odorant receptor HOR5'beta5; olfactory receptor 51B5; olfactory receptor OR11-37",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:282763); (R-HSA-381753); (R-HSA-9752946)",
"pathway_count": 3,
"publication_count": 30,
"publication_id_list": "10460249;11121057;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;20018918;24316890;24800820;25784876;25977809;26373539;27315375;27515280;27916747;27916748;28656349;29235485;29557506;31040214;31974307;32066986;32983136;34502185;35494241;36288877",
"class_list": "",
"function": "Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development of Scirrhous-type Gastric Cancer., [RefSeq, PubMed]; Dermal Olfactory Receptor OR51B5 Is Essential for Survival and Collagen Synthesis in Human Dermal Fibroblast (Hs68 Cells). Publication Status: Online-Only, [RefSeq, PubMed]; OR51B5 and ISO play important roles in HaCaT and keratinocyte migration, thereby influencing wound healing., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B2RN59",
"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid",
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"record_id": "Q9H339-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IX04-1",
"uniprot_id": [
{
"id": "UEVLD_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IX04",
"type": "external"
}
],
"mass": 52264.0,
"length": 471,
"protein_name": "Ubiquitin-conjugating enzyme E2 variant 3",
"gene_name": "UEVLD",
"organism": "Human",
"refseq_name": "ubiquitin-conjugating enzyme E2 variant 3 isoform a",
"refseq_ac": [
{
"id": "NP_001035787",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035787",
"type": "external"
}
],
"gene_names_uniprotkb": "UEVLD; UEV3",
"gene_names_refseq": "ATTP; UEV3; UEVLD",
"protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 variant 3; EV and lactate/malate dehydrogenase domain-containing protein; UEV-3",
"protein_names_refseq": "EV and lactate/malate dehydrogenase domain-containing protein; UEV-3; signaling molecule ATTP; ubiquitin-conjugating enzyme E2 variant 3 isoform a",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55293)",
"pathway_count": 1,
"publication_count": 67,
"publication_id_list": "11237011;12427560;24715725;25645385;25880248;25892735;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771",
"class_list": "",
"function": "Identification, sequencing and analysis of cDNA in various colon carcinoma cell lines as well as normal and tumor samples from colon, [RefSeq, PubMed]; Possible negative regulator of polyubiquitination., [UniProtKB, PubMed]",
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"secondary_ac_list": "B2RB69;B4DL43;F5H6L6;H7BYD6;Q6P2F0;Q96FF5;Q9NUX7",
"ec_number_list": [],
"go_molecular_function": "GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0043130 ubiquitin binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0000813 ESCRT I complex",
"go_biological_process": "GO:0015031 protein transport;GO:0006355 regulation of DNA-templated transcription;GO:0008333 endosome to lysosome transport;GO:0019752 carboxylic acid metabolic process",
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"hit_score": 6.8,
"record_id": "Q8IX04-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y2X3-1",
"uniprot_id": [
{
"id": "NOP58_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y2X3",
"type": "external"
}
],
"mass": 59578.0,
"length": 529,
"protein_name": "Nucleolar protein 58",
"gene_name": "NOP58",
"organism": "Human",
"refseq_name": "nucleolar protein 58",
"refseq_ac": [
{
"id": "NP_057018",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057018",
"type": "external"
}
],
"gene_names_uniprotkb": "NOP58; HSPC120; NOL5; NOP5",
"gene_names_refseq": "HSPC120; NOP5/NOP58; NOP58; NOP5",
"protein_names_uniprotkb": "Nucleolar protein 58; Nucleolar protein 5",
"protein_names_refseq": "NOP58 ribonucleoprotein homolog; nucleolar protein 58; nucleolar protein 5; nucleolar protein NOP5/NOP58",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51602); (R-HSA-4570464); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 4,
"publication_count": 205,
"publication_id_list": "10606270;10925205;11081632;11237011;11922599;11935223;11978965;12032086;12068309;12150911;12196509;12417735;12429849;15082759;15161980;15199136;15574333;16037817;16043514;16381836;16565220;16738141;16782898;17081983;17189298;17353269;17412707;17636026;17709390;18065403;18220336;18438418;18452278;18491316;18669648;18691976;18767875;18991276;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19596686;19620283;19651622;19664994;19664995;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20166139;20531386;20797632;20797634;20798176;20805244;20819938;21036871;21063389;21097556;21406692;21647297;22072790;22190735;22195017;22645359;22825850;22916032;23092970;23186163;23301498;23391857;23439679;23481700;23482395;2388630;24086612;24275569;24366607;24424021;24550520;24714562;24715725;24782567;25114211;25218447;25411247;25418920;25525153;25576301;25645385;25653167;25755297;25772364;25810538;25851604;25880248;25892735;25969445;26024233;26085946;26154972;26196125;26237581;26375851;26728094;26992070;27084949;27397612;27600516;27655845;27846572;27862975;27920218;28228285;28446606;28510447;28514659;28760965;28832583;28834231;28904123;29242379;29371260;29393594;29493099;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30620550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33214551;33298915;33367824;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34014550;34019948;34087483;34171305;34229054;34516797;34561969;34725712;34931806;34932366;35051231;35083852;35132862;35138101;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38665916;39570315;40596516;9211966;9482744;9512526",
"class_list": "",
"function": "Mammalian and yeast U3 snoRNPs are matured in specific and related nuclear compartments., [RefSeq, PubMed]; Overexpression of NOP58 as a Prognostic Marker in Hepatocellular Carcinoma: A TCGA Data-Based Analysis., [RefSeq, PubMed]; Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs (PubMed:15574333, PubMed:17636026, PubMed:19620283, PubMed:34516797). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs) (PubMed:39570315)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "Q53SA4;Q6PK08;Q9P036;Q9UFN3",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0051117 ATPase binding;GO:0030515 snoRNA binding;GO:0001094 TFIID-class transcription factor complex binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0001650 fibrillar center;GO:0015030 Cajal body",
"go_biological_process": "GO:0016556 mRNA modification;GO:0030182 neuron differentiation;GO:0006364 rRNA processing;GO:0048254 snoRNA localization;GO:0042274 ribosomal small subunit biogenesis",
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"record_id": "Q9Y2X3-1",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "NMDZ1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q05586",
"type": "external"
}
],
"mass": 105373.0,
"length": 938,
"protein_name": "Glutamate receptor ionotropic, NMDA 1",
"gene_name": "GRIN1",
"organism": "Human",
"refseq_name": "glutamate receptor ionotropic, NMDA 1 isoform GluN1-4a precursor",
"refseq_ac": [
{
"id": "NP_000823",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000823",
"type": "external"
}
],
"gene_names_uniprotkb": "GRIN1; NMDAR1",
"gene_names_refseq": "DEE101; GRIN1; GluN1; MRD8; NDHMSD; NDHMSR; NMD-R1; NMDA1; NMDAR1; NR1; hNR1",
"protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 1; GluN1; Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NMD-R1; hNR1",
"protein_names_refseq": "N-methyl-D-aspartate receptor channel, subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; glutamate [NMDA] receptor subunit zeta-1; glutamate receptor ionotropic, NMDA 1 isoform GluN1-4a precursor; glutamate receptor ionotropic, NMDA 1; glutamate receptor, ionotropic, N-methyl D-aspartate 1; putative NMDtranscript(altAcc_e2)",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (Disease Ontology:DOID:0070038); developmental and epileptic encephalopathy 101 (Disease Ontology:DOID:0070387); autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures (Disease Ontology:DOID:0070739); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); neurodegenerative disease (Disease Ontology:DOID:1289); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); placental insufficiency (Disease Ontology:DOID:3891); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725)",
"pathway": " (hsa:2902); (R-HSA-3928662); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)",
"pathway_count": 10,
"publication_count": 174,
"publication_id_list": "10.1101/2023.09.13.557529;10049997;10201407;10219243;10373510;10508167;10869344;10995436;11027663;11058585;11090077;11134074;11136978;11237011;11313946;11546808;11580899;11604393;11702783;11747816;11804587;12023960;12032311;12094235;12121613;12546821;12702722;12807427;12815021;12824058;14506247;14622581;14707138;14973229;14988728;15356145;15378065;1545823;15485490;15540461;15546878;15548136;15721239;15936117;16242404;16298995;16363995;16495444;16624946;16627759;16630835;16684964;16846852;1716764;17440041;17548511;17855605;17897391;17997397;17998941;18227064;18452278;18775330;18812509;18829961;18849881;1898771;19279408;19476542;19553453;19681166;19920141;20064387;20064388;20478380;20519524;20600927;20623543;21102635;21282647;21372320;21376300;21779497;21779505;21993244;2201922;22569528;22589270;22750304;22833210;22875940;23103841;23303910;23443682;23481700;23575685;24897931;24937142;25167861;25219551;25378172;25781681;25864721;26038702;26085527;26321637;26377910;26875626;26919761;27164704;27458189;28051072;28095420;28105280;28126851;28228639;28389307;28449373;28657654;28778966;29393594;29557506;30482728;30590034;30900515;31135801;31154438;31492838;31844290;32983136;33592498;34186027;34321660;34611970;35051231;36309015;36959261;37142655;37686003;37734923;38538865;38598639;38836461;6148751;7478585;7569905;7622053;7679115;7681588;7685113;7695896;7736595;7809086;7926821;7935463;7972015;8052307;8316301;8394845;8406025;8493579;8576240;8601796;8665852;8710374;8939933;9030583;9069287;9231706;9604935;9648857;9808458;9927426;9927700",
"class_list": "",
"function": "Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the long-term potentiation (LTP) (PubMed:26875626). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:27164704, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:38538865, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 or GluN3 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:26919761, PubMed:36309015, PubMed:38598639)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Publication Status: Online-Only, [RefSeq, PubMed]; Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology. Review article, [RefSeq, PubMed]; GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms., [RefSeq, PubMed]; Pluripotential GluN1 (NMDA NR1): Functional Significance in Cellular Nuclei in Pain/Nociception. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system., [UniProtKB, UniProtKB]; The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 2,
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"reported_phosphosites": 8,
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"reported_snv": 34,
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"biomarker_type": "",
"glycan_count": 3,
"disease_count": 17,
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"binding_glycan_count": 0,
"secondary_ac_list": "A6NLK7;A6NLR1;C9K0X1;P35437;Q12867;Q12868;Q5VSF3;Q5VSF4;Q5VSF5;Q5VSF6;Q5VSF7;Q5VSF8;Q9UPF8;Q9UPF9",
"ec_number_list": [
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
}
],
"go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0005516 calmodulin binding;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0001540 amyloid-beta binding;GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0017146 NMDA selective glutamate receptor complex;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0014069 postsynaptic density",
"go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:0008542 visual learning;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0042391 regulation of membrane potential;GO:0045471 response to ethanol",
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"filter_code": "0000000.1100111.010000.000000000001000000.1100100010001.111.00000",
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},
{
"uniprot_canonical_ac": "Q7Z6J8-1",
"uniprot_id": [
{
"id": "UBE3D_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z6J8",
"type": "external"
}
],
"mass": 43657.0,
"length": 389,
"protein_name": "E3 ubiquitin-protein ligase E3D",
"gene_name": "UBE3D",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase E3D isoform 2",
"refseq_ac": [
{
"id": "NP_001291366",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291366",
"type": "external"
}
],
"gene_names_uniprotkb": "UBE3D; C6orf157; H10BH; UBE2CBP",
"gene_names_refseq": "C6orf157; H10BH; UBE2CBP; UBE3D; YJR141W",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase E3D; 2.3.2.26; HECT-type E3 ubiquitin transferase E3D; UbcH10-binding protein with a HECT-like domain; Ubiquitin-conjugating enzyme E2C-binding protein",
"protein_names_refseq": "E3 ubiquitin-protein ligase E3D isoform 2; E3 ubiquitin-protein ligase E3D; HECT-type E3 ubiquitin transferase E3D; UBCH10 binding protein with a hect-like domain; ubcH10-binding protein with a HECT-like domain; ubiquitin-conjugating enzyme E2C-binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90025); (R-HSA-983168)",
"pathway_count": 2,
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"publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;15749827;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;24366607;25872646;26962152;26992070;28904123;29437277;29557506;30379171;30410026;31844290;32357974;32938616;33298915;33592498;33691108;33912179;33968037;34185709;34357683;34405274;34509645;35051231;35580925;36010968;39032490;9380723;9668046",
"class_list": "",
"function": "A novel missense SNV, rs7739323, is strongly associated with age-related macular degeneration in an East Asian population. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Independently of its E3 ubiquitin-protein ligase activity, acts as an inhibitor of CPSF3 endonuclease activity by blocking CPSF3 active site., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The carboxyl terminal half of H10BH was able to bind cyclin B and ubiquitinylate cyclin B in vitro., [RefSeq, PubMed]; With the exception of associations of BEGAIN with severe and UBE3D with moderate chronic periodontitis (CP) , no other loci were associated with CP in ARIC or aggressive periodontitis in the German sample., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DP63;Q5T4W2;Q6IPR4;Q75UG0;Q9NT42",
"ec_number_list": [
{
"id": "2.3.2.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24",
"type": "external"
},
{
"id": "2.3.2.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23",
"type": "external"
},
{
"id": "2.3.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "2.3.2.31",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31",
"type": "external"
},
{
"id": "2.3.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-",
"type": "external"
},
{
"id": "6.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
"type": "external"
},
{
"id": "2.3.2.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34",
"type": "external"
},
{
"id": "2.3.2.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32",
"type": "external"
},
{
"id": "3.6.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-",
"type": "external"
},
{
"id": "2.3.2.25",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25",
"type": "external"
},
{
"id": "2.3.2.36",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36",
"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0008428 ribonuclease inhibitor activity;GO:0030332 cyclin binding;GO:0044390 ubiquitin-like protein conjugating enzyme binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0051865 protein autoubiquitination;GO:0006513 protein monoubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 5.1,
"record_id": "Q7Z6J8-1",
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},
{
"uniprot_canonical_ac": "Q13564-1",
"uniprot_id": [
{
"id": "ULA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13564",
"type": "external"
}
],
"mass": 60246.0,
"length": 534,
"protein_name": "NEDD8-activating enzyme E1 regulatory subunit",
"gene_name": "NAE1",
"organism": "Human",
"refseq_name": "NEDD8-activating enzyme E1 regulatory subunit isoform b",
"refseq_ac": [
{
"id": "NP_001018169",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018169",
"type": "external"
}
],
"gene_names_uniprotkb": "NAE1; APPBP1; HPP1",
"gene_names_refseq": "A-116A10.1; APPBP1; HPP1; NAE1; NEDFIH; ula-1",
"protein_names_uniprotkb": "NEDD8-activating enzyme E1 regulatory subunit; APP-BP1; Amyloid beta precursor protein-binding protein 1, 59 kDa; Amyloid protein-binding protein 1; Proto-oncogene protein 1",
"protein_names_refseq": "APP-BP1; NEDD8-activating enzyme E1 regulatory subunit isoform b; NEDD8-activating enzyme E1 regulatory subunit; NEDD8-activating enzyme E1 subunit; amyloid beta precursor protein binding protein 1, 59kDa; amyloid beta precursor protein-binding protein 1, 59 kDa; amyloid beta precursor protein-binding protein 1, 59kD; amyloid protein-binding protein 1; proto-oncogene protein 1; protooncogene protein 1",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652); middle cerebral artery infarction (Disease Ontology:DOID:3525); neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (MONDO:MONDO:0859361)",
"pathway": " (hsa:8883); (R-HSA-8951664)",
"pathway_count": 2,
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"class_list": "",
"function": "Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. The covalent attachment of NEDD8 to target proteins is known as 'neddylation' and the process is involved in the regulation of cell growth, viability and development., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 1,
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"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
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"binding_glycan_count": 0,
"secondary_ac_list": "A6NCK0;A6NFN4;A8MU28;B2R700;B3KUP9",
"ec_number_list": [],
"go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0019781 NEDD8 activating enzyme activity;GO:0008641 ubiquitin-like modifier activating enzyme activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032991 protein-containing complex",
"go_biological_process": "GO:0007165 signal transduction;GO:0051402 neuron apoptotic process;GO:0042981 regulation of apoptotic process;GO:0043523 regulation of neuron apoptotic process;GO:0045116 protein neddylation",
"synthesized_glycan_count": 0,
"hit_score": 20.9,
"record_id": "Q13564-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95157-1",
"uniprot_id": [
{
"id": "NXPH3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95157",
"type": "external"
}
],
"mass": 28127.0,
"length": 252,
"protein_name": "Neurexophilin-3",
"gene_name": "NXPH3",
"organism": "Human",
"refseq_name": "neurexophilin-3 precursor",
"refseq_ac": [
{
"id": "NP_009156",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009156",
"type": "external"
}
],
"gene_names_uniprotkb": "NXPH3; KIAA1159; NPH3; PRO1327",
"gene_names_refseq": "NPH3; NXPH3",
"protein_names_uniprotkb": "Neurexophilin-3",
"protein_names_refseq": "neurexophilin-3 precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11248)",
"pathway_count": 1,
"publication_count": 6,
"publication_id_list": "11237011;12975309;15340161;30429286;35051231;9570794",
"class_list": "",
"function": "May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity)., [UniProtKB]",
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},
{
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{
"id": "S41A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96GZ6",
"type": "external"
}
],
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"length": 507,
"protein_name": "Solute carrier family 41 member 3",
"gene_name": "SLC41A3",
"organism": "Human",
"refseq_name": "solute carrier family 41 member 3 isoform 4",
"refseq_ac": [
{
"id": "NP_001008487",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008487",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC41A3",
"gene_names_refseq": "SLC41A1-L2; SLC41A3",
"protein_names_uniprotkb": "Solute carrier family 41 member 3",
"protein_names_refseq": "SLC41A1-like 2; solute carrier family 41 member 3 isoform 4",
"tax_id": 9606,
"disease": "Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:54946)",
"pathway_count": 1,
"publication_count": 41,
"publication_id_list": "11237011;15302935;23481700;24715725;25418920;26154972;26929215;27302215;28218747;28228285;28254787;28514659;28832583;28834231;28855257;28904123;29242379;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30484775;31154438;31844290;32157095;32161166;32502341;32938616;33592498;33912179;33968037;34211107;34357683;34819993;35051231;36010968;36241641",
"class_list": "",
"function": "Acts as a magnesium transporter., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data identify SLC41A3 as the first mammalian mitochondrial Mg(2+) efflux system, which greatly enhances the understanding of intracellular Mg(2+) homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the mitochondrial inner membrane., [UniProtKB, PubMed]; SLC41A3 Exhibits as a Carcinoma Biomarker and Promoter in Liver Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A6ND60;B3KSD9;B7Z4Y2;C9JE96;E7ENY4;Q8N342;Q8NB27;Q9H9I6;Q9HAB1;Q9NX30",
"ec_number_list": [],
"go_molecular_function": "GO:0061768 magnesium:sodium antiporter activity;GO:0008324 monoatomic cation transmembrane transporter activity",
"go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0045016 mitochondrial magnesium ion transmembrane transport;GO:0015693 magnesium ion transport;GO:0030001 metal ion transport",
"synthesized_glycan_count": 0,
"hit_score": 4.2,
"record_id": "Q96GZ6-1",
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},
{
"uniprot_canonical_ac": "Q96S42-1",
"uniprot_id": [
{
"id": "NODAL_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96S42",
"type": "external"
}
],
"mass": 39561.0,
"length": 347,
"protein_name": "Nodal homolog",
"gene_name": "NODAL",
"organism": "Human",
"refseq_name": "nodal homolog isoform 1 preproprotein",
"refseq_ac": [
{
"id": "NP_060525",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060525",
"type": "external"
}
],
"gene_names_uniprotkb": "NODAL",
"gene_names_refseq": "HTX5; NODAL",
"protein_names_uniprotkb": "Nodal homolog",
"protein_names_refseq": "nodal homolog isoform 1 preproprotein; nodal homolog",
"tax_id": 9606,
"disease": "Marfan syndrome (Disease Ontology:DOID:14323); anxiety disorder (Disease Ontology:DOID:2030); visceral heterotaxy 5 (Disease Ontology:DOID:758); neuroblastoma (Disease Ontology:DOID:769)",
"pathway": " (hsa:4838); (R-HSA-1181150); (R-HSA-1433617)",
"pathway_count": 3,
"publication_count": 42,
"publication_id_list": "10067895;10473623;10822381;10934479;11024047;11237011;11294908;11389842;11485994;11779503;11779505;12063393;12592392;12606401;14978253;15062104;15150278;15350224;15485907;15531507;16260601;16959974;17272273;19064609;19114992;20694664;21356369;21383881;21532621;25603319;31530632;34769150;35079017;35302162;38570875;8429908;8878477;9288972;9311995;9354794;9670020;9702198",
"class_list": "",
"function": "A network of transcription factors governs the dynamics of NODAL/Activin transcriptional responses., [RefSeq, PubMed]; Essential for mesoderm formation and axial patterning during embryonic development., [UniProtKB, UniProtKB, UniProtKB]; Functional analysis of the mouse counterpart., [RefSeq, PubMed]; MRNA expression of Nodal, a ligand for ALK7, was detected in placentae of different gestational age, [RefSeq, PubMed]; NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Publication Status: Online-Only, [RefSeq, PubMed]; Nodal is a short-range morphogen with activity that spreads through a relay mechanism in human gastruloids. Publication Status: Online-Only, [RefSeq, PubMed]; Normal Skin Cells Increase Aggressiveness of Cutaneous Melanoma by Promoting Epithelial-to-Mesenchymal Transition via Nodal and Wnt Activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]., [RefSeq]",
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"secondary_ac_list": "Q2M3A5;Q8N4V3",
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"go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0016015 morphogen activity;GO:0070698 type I activin receptor binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region",
"go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0070374 positive regulation of ERK1 and ERK2 cascade",
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},
{
"uniprot_canonical_ac": "P54845-1",
"uniprot_id": [
{
"id": "NRL_HUMAN",
"url": "https://www.uniprot.org/uniprot/P54845",
"type": "external"
}
],
"mass": 25940.0,
"length": 237,
"protein_name": "Neural retina-specific leucine zipper protein",
"gene_name": "NRL",
"organism": "Human",
"refseq_name": "neural retina-specific leucine zipper protein isoform 1",
"refseq_ac": [
{
"id": "NP_006168",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006168",
"type": "external"
}
],
"gene_names_uniprotkb": "NRL; D14S46E",
"gene_names_refseq": "D14S46E; ESCS2; NRL-MAF; NRL; RP27",
"protein_names_uniprotkb": "Neural retina-specific leucine zipper protein; NRL",
"protein_names_refseq": "Maf-family bZIP transcription factor NRL; neural retina-specific leucine zipper protein isoform 1; neural retinal-specific leucine zipper",
"tax_id": 9606,
"disease": "enhanced S-cone syndrome 2 (Disease Ontology:DOID:0061232); enhanced S-cone syndrome (Disease Ontology:DOID:0090059); retinitis pigmentosa 27 (Disease Ontology:DOID:0110397); retinitis pigmentosa (Disease Ontology:DOID:10584)",
"pathway": " (hsa:4901)",
"pathway_count": 1,
"publication_count": 24,
"publication_id_list": "10192380;10887186;11237011;11385710;11477108;11879142;15328344;15591106;15994872;1729696;17335001;21217109;21697133;21981118;22334370;32081919;33141586;33400844;34171305;35580925;35653045;35693422;36226585;9344665",
"class_list": "",
"function": "Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Also functions as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds to the rhodopsin promoter in a sequence-specific manner (PubMed:17335001)., [UniProtKB, PubMed, PubMed]; Investigating cone photoreceptor development using patient-derived NRL null retinal organoids. Publication Status: Online-Only, [RefSeq, PubMed]; NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors., [RefSeq, PubMed]; Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8MX14;Q53XD0",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0043522 leucine zipper domain binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007601 visual perception;GO:0046548 retinal rod cell development",
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},
{
"uniprot_canonical_ac": "Q14157-2",
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{
"id": "UBP2L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14157",
"type": "external"
}
],
"mass": 114535.0,
"length": 1087,
"protein_name": "Ubiquitin-associated protein 2-like",
"gene_name": "UBAP2L",
"organism": "Human",
"refseq_name": "ubiquitin-associated protein 2-like isoform b",
"refseq_ac": [
{
"id": "NP_001120792",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120792",
"type": "external"
}
],
"gene_names_uniprotkb": "UBAP2L; KIAA0144; NICE4",
"gene_names_refseq": "NEDLBF; NICE-4; NICE4; UBAP2L",
"protein_names_uniprotkb": "Ubiquitin-associated protein 2-like; Protein NICE-4; RNA polymerase II degradation factor UBAP2L",
"protein_names_refseq": "RNA polymerase II degradation factor UBAP2L; protein NICE-4; ubiquitin-associated protein 2-like isoform b",
"tax_id": 9606,
"disease": "neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (MONDO:MONDO:0957588)",
"pathway": " (hsa:9898)",
"pathway_count": 1,
"publication_count": 197,
"publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11230159;15144186;15302935;15570572;15592455;16083285;16094384;16497976;16964243;17081983;17287340;17322306;17525332;17697703;17924679;18212344;18491316;18669648;18691976;18767875;18991276;19007248;19369195;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20230923;20305658;21406692;21740066;21993680;22121020;22544926;22617051;22661428;23186163;23301498;23481700;23783831;24129315;24190977;24275569;24714562;24715725;25185265;25418920;25576301;25645385;25810538;25813380;25892735;26154972;26375851;26728094;26758079;26811146;26992070;27114449;27397612;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28604694;28649982;28657654;28832583;28834231;28860189;28904123;29237092;29242379;29249144;29331515;29351928;29393594;29395067;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30192525;30315122;30379171;30397120;30410026;30524438;30620550;30779550;30833945;31092671;31154438;31217245;31222486;31373491;31492838;31530632;31637018;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32302570;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34105348;34171305;34185709;34211107;34229054;34509645;34532545;34725712;34846842;34932366;35051231;35132862;35138101;35154160;35254053;35289036;35318648;35513511;35561310;35580925;35633597;35705054;35977029;36010968;36215666;36240223;36241641;36284347;36581221;37039032;37074911;37217939;37340703;37541260;37938771;38652117;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704",
"class_list": "",
"function": "Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage (PubMed:35633597). Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs) (By similarity). Is a regulator of stress granule assembly, required for their efficient formation (PubMed:29395067, PubMed:35977029). Required for proper brain development and neocortex lamination (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase II and are the human orthologues of yeast Def1., [RefSeq, PubMed]; UBAP2L ensures homeostasis of nuclear pore complexes at the intact nuclear envelope., [RefSeq, PubMed]; UBAP2L-dependent coupling of PLK1 localization and stability during mitosis., [RefSeq, PubMed]",
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"secondary_ac_list": "B4E0U8;Q5VU75;Q5VU76;Q9BTU3;Q9UGL2;Q9UGL3;Q9UGL4;Q9UGL5",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005694 chromosome;GO:0010494 cytoplasmic stress granule;GO:0031519 PcG protein complex",
"go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0034063 stress granule assembly;GO:0061484 hematopoietic stem cell homeostasis;GO:0062029 positive regulation of stress granule assembly",
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},
{
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{
"id": "NOMO2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JPE7",
"type": "external"
}
],
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"protein_name": "BOS complex subunit NOMO2",
"gene_name": "NOMO2",
"organism": "Human",
"refseq_name": "BOS complex subunit NOMO2 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001004060",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004060",
"type": "external"
}
],
"gene_names_uniprotkb": "NOMO2",
"gene_names_refseq": "NOMO2; Nomo; PM5",
"protein_names_uniprotkb": "BOS complex subunit NOMO2; Nodal modulator 2; pM5 protein 2",
"protein_names_refseq": "BOS complex subunit NOMO2 isoform 1 precursor; BOS complex subunit NOMO2; pM5 protein 2; pM5 protein, centromeric copy",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:283820)",
"pathway_count": 1,
"publication_count": 80,
"publication_id_list": "10.1007/s00018-021-03863-1;10.1074/mcp.M114.046862;11237011;15257293;17261586;18669648;18991276;20068231;20538592;22424782;22544926;22645359;22869377;22898188;23090970;23481700;24190977;24366607;24397554;24714562;24715725;25418920;25502872;25576301;25645385;25813380;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27726376;27893789;27920218;28063628;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29605689;29632046;29632711;29741879;29769354;29786170;29789417;30315122;30410026;30524438;30573663;30779550;30833945;31154438;31222486;31530632;31848261;31937595;31998317;32161166;32387766;32820719;33968037;34089345;34357683;35051231;36261522;37938771;39534244",
"class_list": "",
"function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 2,
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"total_reported_n_glycosites": 4,
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"total_n_glycosites": 4,
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"reported_snv": 28,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 12,
"disease_count": 0,
"glyco_site_count": 9,
"binding_glycan_count": 0,
"secondary_ac_list": "Q4G177",
"ec_number_list": [],
"go_molecular_function": "GO:0030246 carbohydrate binding;GO:0043022 ribosome binding",
"go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex;GO:0160064 multi-pass translocon complex",
"go_biological_process": "GO:0160063 multi-pass transmembrane protein insertion into ER membrane",
"synthesized_glycan_count": 0,
"hit_score": 10.0,
"record_id": "Q5JPE7-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q0ZGT2-1",
"uniprot_id": [
{
"id": "NEXN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q0ZGT2",
"type": "external"
}
],
"mass": 80658.0,
"length": 675,
"protein_name": "Nexilin",
"gene_name": "NEXN",
"organism": "Human",
"refseq_name": "nexilin isoform 2",
"refseq_ac": [
{
"id": "NP_001165780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165780",
"type": "external"
}
],
"gene_names_uniprotkb": "NEXN",
"gene_names_refseq": "CDM2M; CMH20; NELIN; NEXN",
"protein_names_uniprotkb": "Nexilin; F-actin-binding protein; Nelin",
"protein_names_refseq": "nexilin isoform 2",
"tax_id": 9606,
"disease": "hypertrophic cardiomyopathy 20 (Disease Ontology:DOID:0110326); dilated cardiomyopathy 1CC (Disease Ontology:DOID:0110424); cardiomyopathy, dilated, 2M (MONDO:MONDO:0979243)",
"pathway": " (hsa:91624)",
"pathway_count": 1,
"publication_count": 59,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;12053183;15823560;17081983;17924679;18077418;18212344;18318008;18491316;18669648;18767875;19007248;19651622;19664994;19664995;19881492;20058876;20068231;20970104;21406692;23186163;23481700;24275569;26154972;26992070;27846572;27920218;28832583;28904123;29557506;30379171;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32410525;32488085;32938616;33298915;33592498;33912179;33949776;33968037;34561969;34932366;35051231;35166435;35318648;35580925;36284347;37938771;38059363;38665916;39302247;8227983",
"class_list": "",
"function": "Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case. Review article, [RefSeq, PubMed]; Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis., [RefSeq, PubMed]; NELIN product is an F-actin associated protein and mediates cell motility, [RefSeq, PubMed]; NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis., [RefSeq, PubMed]; The findings of thi study on the role of nexilin in maintaining cardiac Z-disk integrity and on the workload dependence to cardiac Z-disk damage in nexilin-linked cardiomyopathy also might have implications for the treatment of NEXN-mutation carriers., [RefSeq, PubMed]; This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 0,
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"reported_snv": 15,
"reported_interactions": 0,
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"biomarker_type": "",
"glycan_count": 3,
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"secondary_ac_list": "A0PJ84;B4DPZ7;Q0D2H2;Q14CC2;Q14CC3;Q16081;Q7Z2X0;Q96DL0;Q9Y2V1",
"ec_number_list": [],
"go_molecular_function": "GO:0051015 actin filament binding;GO:0008307 structural constituent of muscle;GO:0098632 cell-cell adhesion mediator activity;GO:0003779 actin binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0030424 axon",
"go_biological_process": "GO:0030334 regulation of cell migration;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0051493 regulation of cytoskeleton organization;GO:0007411 axon guidance;GO:0070593 dendrite self-avoidance",
"synthesized_glycan_count": 0,
"hit_score": 6.6,
"record_id": "Q0ZGT2-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95201-1",
"uniprot_id": [
{
"id": "RHIT_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95201",
"type": "external"
}
],
"mass": 60630.0,
"length": 554,
"protein_name": "Transcriptional repressor RHIT",
"gene_name": "ZNF205",
"organism": "Human",
"refseq_name": "transcriptional repressor RHIT",
"refseq_ac": [
{
"id": "NP_001035893",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035893",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF205; RHIT; ZNF210",
"gene_names_refseq": "RhitH; ZNF205; ZNF210; Zfp13",
"protein_names_uniprotkb": "Transcriptional repressor RHIT; Repressor of heat-inducible transcription; RhitH; Zinc finger protein 205; Zinc finger protein 210",
"protein_names_refseq": "repressor of heat-inducible transcription; transcriptional repressor RHIT; transcriptional repressor RhitH; zinc finger protein 210",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7755); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 23,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22306510;23186163;25772364;29393594;29557506;32157095;35051231;37580950;8183939;8769649;9637681;9653119;9787081",
"class_list": "",
"function": "That knockdown of RhitH or overexpression of M-LPH reduces the generation of intracellular H(2)O(2) and loss of mitochondrial membrane potential caused by an inhibitor of the respiratory chain, antimycin A, [RefSeq, PubMed]; Transcriptional repressor involved in regulating MPV17L expression (PubMed:22306510). By regulating MPV17L expression, contributes to the regulation of genes involved in H(2)O(2) metabolism and the mitochondrial apoptotic cascade (PubMed:22306510)., [UniProtKB, PubMed]; ZNF205 positively regulates RLR antiviral signaling by targeting RIG-I., [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "A8MZK0;D3DUB4;I0J0A3;Q9BU95",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion",
"go_biological_process": "GO:0010729 positive regulation of hydrogen peroxide biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 2.4,
"record_id": "O95201-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q70CQ4-1",
"uniprot_id": [
{
"id": "UBP31_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q70CQ4",
"type": "external"
}
],
"mass": 146651.0,
"length": 1352,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 31",
"gene_name": "USP31",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 31 isoform 1",
"refseq_ac": [
{
"id": "NP_065769",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065769",
"type": "external"
}
],
"gene_names_uniprotkb": "USP31; KIAA1203",
"gene_names_refseq": "USP31",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 31; 3.4.19.12; Deubiquitinating enzyme 31; Ubiquitin thioesterase 31; Ubiquitin-specific-processing protease 31",
"protein_names_refseq": "deubiquitinating enzyme 31; ubiquitin carboxyl-terminal hydrolase 31 isoform 1; ubiquitin carboxyl-terminal hydrolase 31; ubiquitin specific proteinase 31; ubiquitin thioesterase 31; ubiquitin thiolesterase 31; ubiquitin-specific-processing protease 31",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57478)",
"pathway_count": 1,
"publication_count": 21,
"publication_id_list": "11237011;14715245;17287340;19413330;25418920;26992070;27846572;28411811;28832583;29242379;29393594;29557506;30379171;31848261;32265295;32387766;34184746;35051231;35468926;35580925;37699648",
"class_list": "",
"function": "(Microbial infection) Plays a positive role in foot-and-mouth disease and classical swine fever viral infection. Mechanistically, associates with internal ribosomal entry site (IRES) element within the 5'-untranslated region of viral genomes to promote translation of the virus-encoded polyprotein., [UniProtKB, PubMed]; Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. May play a role in the regulation of NF-kappa-B signaling pathway by deubiquitinating TRAF2., [UniProtKB, PubMed]; USP31 acetylation at Lys1264 is essential for its activity and cervical cancer cell growth., [RefSeq, PubMed]; USP31 serves as a potential biomarker for predicting prognosis and immune responses for clear cell renal cell carcinoma via single-cell and bulk RNA-sequencing., [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "Q6AW97;Q6ZTC0;Q6ZTN2;Q9ULL7",
"ec_number_list": [],
"go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 2.5,
"record_id": "Q70CQ4-1",
"record_type": "protein",
"filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H8H0-1",
"uniprot_id": [
{
"id": "NOL11_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H8H0",
"type": "external"
}
],
"mass": 81124.0,
"length": 719,
"protein_name": "Nucleolar protein 11",
"gene_name": "NOL11",
"organism": "Human",
"refseq_name": "nucleolar protein 11 isoform 2",
"refseq_ac": [
{
"id": "NP_001290201",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290201",
"type": "external"
}
],
"gene_names_uniprotkb": "NOL11; L14",
"gene_names_refseq": "NOL11",
"protein_names_uniprotkb": "Nucleolar protein 11",
"protein_names_refseq": "nucleolar protein 11 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:25926); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
"publication_count": 163,
"publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;15334068;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18991276;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21872626;22072790;22190735;22195017;22916032;23301498;23391857;23439679;23481700;23482395;2388630;24086612;24129315;24366607;24397554;24424021;24550520;24714562;24715725;25411247;25418920;25505266;25525153;25576301;25645385;25653167;25851604;25880248;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26811146;26992070;27084949;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;9211966;9482744;9512526",
"class_list": "",
"function": "NOL11 is a novel protein required for the early stages of ribosome biogenesis in humans and is implicated in the pathogenesis of North American Indian childhood cirrhosis., [RefSeq, PubMed]; Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b., [UniProtKB, PubMed]",
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"secondary_ac_list": "B7Z5V9;Q7L5S1;Q9UG18",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0034455 t-UTP complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I;GO:0030490 maturation of SSU-rRNA",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96L15-1",
"uniprot_id": [
{
"id": "NAR5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96L15",
"type": "external"
}
],
"mass": 32054.0,
"length": 291,
"protein_name": "Ecto-ADP-ribosyltransferase 5",
"gene_name": "ART5",
"organism": "Human",
"refseq_name": "ecto-ADP-ribosyltransferase 5 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001073004",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073004",
"type": "external"
}
],
"gene_names_uniprotkb": "ART5; PRO1137",
"gene_names_refseq": "ART5; ARTC5",
"protein_names_uniprotkb": "Ecto-ADP-ribosyltransferase 5; 2.4.2.31; ADP-ribosyltransferase C2 and C3 toxin-like 5; ARTC5; Mono(ADP-ribosyl)transferase 5; NAD(P)(+)--arginine ADP-ribosyltransferase 5",
"protein_names_refseq": "ADP-ribosyltransferase C2 and C3 toxin-like 5; NAD(P)(+)--arginine ADP-ribosyltransferase 5; ecto-ADP-ribosyltransferase 5 isoform a precursor; ecto-ADP-ribosyltransferase 5; mono(ADP-ribosyl)transferase 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:116969)",
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"publication_id_list": "11237011;12070318;12975309;20106667;32350084;36913068;37217939",
"class_list": "",
"function": "LncFALEC recruits ART5/PARP1 and promotes castration-resistant prostate cancer through enhancing PARP1-meditated self PARylation., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]",
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"ec_number_list": [
{
"id": "2.4.2.31",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31",
"type": "external"
},
{
"id": "2.4.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-",
"type": "external"
},
{
"id": "2.3.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
"type": "external"
},
{
"id": "2.3.1.286",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286",
"type": "external"
}
],
"go_molecular_function": "GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0106274 NAD+-protein-arginine ADP-ribosyltransferase activity",
"go_cellular_component": "GO:0005576 extracellular region",
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},
{
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{
"id": "NRBP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NSY0",
"type": "external"
}
],
"mass": 57803.0,
"length": 501,
"protein_name": "Nuclear receptor-binding protein 2",
"gene_name": "NRBP2",
"organism": "Human",
"refseq_name": "nuclear receptor-binding protein 2",
"refseq_ac": [
{
"id": "NP_848659",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_848659",
"type": "external"
}
],
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"gene_names_refseq": "NRBP2; TRG16; pp9320",
"protein_names_uniprotkb": "Nuclear receptor-binding protein 2; TRG-16; Transformation-related gene 16 protein",
"protein_names_refseq": "nuclear receptor-binding protein 2; transformation-related protein 16",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:340371)",
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"publication_id_list": "15498874;18619852;23186163;25418920;25576301;26154972;27846572;29557506;31009519;31844290;32157095;32387766;32938616;32983136;33968037;34171305;34405274;35051231;35580925;35648115;36241641;36284347",
"class_list": "",
"function": "Data show that NRBP2 protein levels increase as neural progenitor cells differentiate, and its down regulation renders neural progenitor cells more vulnerable to apoptosis, which suggest a role in stem cell survival., [RefSeq, PubMed]; May regulate apoptosis of neural progenitor cells during their differentiation., [UniProtKB]; TRG16, targeted by miR-765, inhibits breast cancer stem cell-like properties via regulating the NF-kappaB pathway., [RefSeq, PubMed]; The altered expression of NRBP2 and CALCOCO2 is associated with left ventricular dysfunction parameters in human dilated cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
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{
"id": "ZA2G_HUMAN",
"url": "https://www.uniprot.org/uniprot/P25311",
"type": "external"
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],
"mass": 34259.0,
"length": 298,
"protein_name": "Zinc-alpha-2-glycoprotein",
"gene_name": "AZGP1",
"organism": "Human",
"refseq_name": "zinc-alpha-2-glycoprotein precursor",
"refseq_ac": [
{
"id": "NP_001176",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001176",
"type": "external"
}
],
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"protein_names_uniprotkb": "Zinc-alpha-2-glycoprotein; Zn-alpha-2-GP; Zn-alpha-2-glycoprotein",
"protein_names_refseq": "Alpha-2-glycoprotein, zinc; Zn-alpha2-glycoprotein; testicular tissue protein Li 227; zinc-alpha-2-glycoprotein precursor; zinc-alpha-2-glycoprotein; zn-alpha-2-GP; zn-alpha-2-glycoprotein",
"tax_id": 9606,
"disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); epilepsy (Disease Ontology:DOID:1826); colon cancer (Disease Ontology:DOID:219); acute kidney failure (Disease Ontology:DOID:3021); temporal lobe epilepsy (Disease Ontology:DOID:3328); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic kidney disease (Disease Ontology:DOID:784); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:563); (R-HSA-5223345)",
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"publication_count": 88,
"publication_id_list": "10.1021/acs.analchem.6b02887;10.1101/2023.09.13.557529;10206894;10571941;11237011;11326272;11326338;11401429;11425849;12297987;12297989;12951058;13130483;14760718;14984739;15084671;15340161;15477100;15804357;16335952;16740002;17166836;18057121;18347014;1840603;18780401;18930737;19139490;1915885;19159218;19262752;1955075;19717468;2049092;22119785;22171320;22649030;23020913;23090970;23169667;24190977;24725410;24790029;26620797;26635246;26791533;26824658;27102039;28035807;28486686;28649982;29242379;29391424;29557506;29632711;29671580;29741879;29786170;30237853;30779550;31428522;31844290;32125861;32157095;32387766;32488085;32507236;32938616;32983136;34171305;3422450;35051231;36284347;37074911;38418147;38491721;38659028;38665916;38950687;39105875;4018271;7615546;7619062;7749638;8241150;8307568;9114041;9537412",
"class_list": "",
"function": "AZGP1 Aggravates Macrophage M1 Polarization and Pyroptosis in Periodontitis., [RefSeq, PubMed]; AZGP1 deficiency promotes angiogenesis in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein AZGP1 inhibits epithelial cell proliferation by regulating the genes of alternative splicing in COPD., [RefSeq, PubMed]; Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids., [UniProtKB]; Zinc Alpha-2 Glycoprotein, Acylated Ghrelin, and Zinc Levels in Prediabetics., [RefSeq, PubMed]; Zinc-Alpha-2-Glycoprotein Peptide Downregulates Type I and III Collagen Expression via Suppression of TGF-beta and p-Smad 2/3 Pathway in Keloid Fibroblasts and Rat Incisional Model., [RefSeq, PubMed]",
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"secondary_ac_list": "D6W5T8;O60386;Q5XKQ4;Q8N4N0",
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"go_molecular_function": "GO:0004540 RNA nuclease activity;GO:0008320 protein transmembrane transporter activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent",
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"hit_score": 29.7,
"record_id": "P25311-1",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "CIAO3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H6Q4",
"type": "external"
}
],
"mass": 53020.0,
"length": 476,
"protein_name": "Cytosolic iron-sulfur assembly component 3",
"gene_name": "CIAO3",
"organism": "Human",
"refseq_name": "cytosolic iron-sulfur assembly component 3 isoform 2",
"refseq_ac": [
{
"id": "NP_001291728",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291728",
"type": "external"
}
],
"gene_names_uniprotkb": "CIAO3; NARFL; PRN",
"gene_names_refseq": "CIAO3; HPRN; IOP1; LET1L; NAR1; NARFL; PRN",
"protein_names_uniprotkb": "Cytosolic iron-sulfur assembly component 3; Cytosolic Fe-S cluster assembly factor NARFL; IOP1; Iron-only hydrogenase-like protein 1; Nuclear prelamin A recognition factor-like protein; Protein related to Narf",
"protein_names_refseq": "LET1 like/JFP15; cytosolic Fe-S cluster assembly factor NARFL; cytosolic iron-sulfur assembly component 3 isoform 2; iron-only hydrogenase-like protein 1; nuclear prelamin A recognition factor like; protein related to Narf",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:64428); (R-HSA-2564830)",
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"publication_id_list": "11237011;15592455;16956324;18270200;18573874;18625724;19864422;20068231;20802492;22678361;22678362;23150669;23481700;23585563;24715725;25418920;25576301;25892735;26154972;26375851;26992070;27835862;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30524438;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32222833;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33912179;33968037;34087483;34171305;34211107;34509645;35051231;35251023;35494241;36241641;36284347;37821486",
"class_list": "",
"function": "CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery., [RefSeq, PubMed]; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect., [UniProtKB, PubMed, PubMed]; Human IscA1 plays an important role in both mitochondrial and cytosolic iron-sulfur cluster biogenesis, and a notable component of the latter is the interaction between IscA1 and IOP1., [RefSeq, PubMed]; IOP1 is involved in mammalian cytosolic Fe-S protein maturation., [RefSeq, PubMed]; MMS19 interacts with target proteins. MIP18 has a role to bridge MMS19 and CIAO1. CIAO1 also binds IOP1., [RefSeq, PubMed]; NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1alpha-DNMT1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; We concluded that the Ser161Ile mutant induced NARFL deficiency and eventually diffuse PAVMs probably through VEGF pathway. In a word, we detected a functional mutation in NARFL, which might be the pathogenic gene in this pedigree., [RefSeq, PubMed]",
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"secondary_ac_list": "A1L385;B3KTJ3;Q53GC6;Q96S10;Q9H6J8",
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"go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding",
"go_cellular_component": "GO:0097361 cytosolic [4Fe-4S] assembly targeting complex;GO:0005737 cytoplasm",
"go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0001666 response to hypoxia;GO:0010468 regulation of gene expression;GO:0032364 intracellular oxygen homeostasis",
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},
{
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{
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"type": "external"
}
],
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"protein_name": "SEC14-like protein 6",
"gene_name": "SEC14L6",
"organism": "Human",
"refseq_name": "SEC14-like protein 6 isoform 1",
"refseq_ac": [
{
"id": "NP_001180265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180265",
"type": "external"
}
],
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"gene_names_refseq": "SEC14L6",
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"protein_names_refseq": "SEC14-like 6; SEC14-like protein 6 isoform 1; putative SEC14-like protein 6",
"tax_id": 9606,
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},
{
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{
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}
],
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"protein_name": "Tetraspanin-19",
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{
"id": "NP_001094387",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094387",
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}
],
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"protein_names_refseq": "putative tetraspanin-19; tetraspanin-19; tspan-19",
"tax_id": 9606,
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},
{
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{
"id": "NEXMI_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5QGS0",
"type": "external"
}
],
"mass": 167551.0,
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"protein_name": "Neurite extension and migration factor",
"gene_name": "NEXMIF",
"organism": "Human",
"refseq_name": "neurite extension and migration factor",
"refseq_ac": [
{
"id": "NP_001008537",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008537",
"type": "external"
}
],
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"gene_names_refseq": "KIAA2022; KIDLIA; MRX98; NEXMIF; XLID98; XPN",
"protein_names_uniprotkb": "Neurite extension and migration factor; XLMR protein related to neurite extension; XPN",
"protein_names_refseq": "XLMR protein related to neurite extension; XLMR-related protein, neurite extension; neurite extension and migration factor",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); non-syndromic X-linked intellectual disability 98 (Disease Ontology:DOID:0112044)",
"pathway": " (hsa:340533)",
"pathway_count": 1,
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"publication_id_list": "11237011;15466006;23615299;24071057;24715725;25900396;26154972;26576034;27358180;27568816;28832583;28904123;29242379;29557506;30429286;30484775;31844290;32938616;33144681;34087483;34326501;35051231;35146903;35545418;36010968;36170093",
"class_list": "",
"function": "An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]., [RefSeq]; Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation., [RefSeq, PubMed]; Disrupted in X-linked mental retardation, [RefSeq, PubMed]; Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1)., [UniProtKB, UniProtKB]; NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns., [RefSeq, PubMed]; NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.', trans 'NEXMIF2., [RefSeq, PubMed]; NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent., [RefSeq, PubMed]; Study describes 3 new families with likely pathogenic mutations of KIAA2022 and further defined clinical and genetic phenotypes; role of KIAA2022 in neuronal development, together with the clinical features of patients observed, provides evidence that KIAA2022 is essential for proper brain development, [RefSeq, PubMed]; Xpn regulates cell-cell and cell-matrix adhesion and cellular migration by regulating the expression of adhesion molecules, [RefSeq, PubMed]; [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].', trans 'Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0001953 negative regulation of cell-matrix adhesion;GO:0033629 negative regulation of cell adhesion mediated by integrin;GO:2001223 negative regulation of neuron migration",
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},
{
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{
"id": "SDK2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q58EX2",
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}
],
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"protein_name": "Protein sidekick-2",
"gene_name": "SDK2",
"organism": "Human",
"refseq_name": "protein sidekick-2 precursor",
"refseq_ac": [
{
"id": "NP_001138424",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138424",
"type": "external"
}
],
"gene_names_uniprotkb": "SDK2; KIAA1514",
"gene_names_refseq": "SDK2",
"protein_names_uniprotkb": "Protein sidekick-2",
"protein_names_refseq": "protein sidekick-2 precursor; protein sidekick-2; sidekick homolog 2",
"tax_id": 9606,
"disease": "obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:54549); (R-HSA-373756)",
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"publication_id_list": "10.1101/2023.09.13.557529;11237011;12230981;17307840;19165232;25892735;28397838;29242379;29393594;29557506;29632711;31530632;31937595;32387766;32897882;33141586;33592498;34211107;35051231;36010968;36284347;37074911;38253038",
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"function": "Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions., [UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_biological_process": "GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0010842 retina layer formation;GO:0060219 camera-type eye photoreceptor cell differentiation",
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},
{
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{
"id": "S15A4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N697",
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}
],
"mass": 62034.0,
"length": 577,
"protein_name": "Solute carrier family 15 member 4",
"gene_name": "SLC15A4",
"organism": "Human",
"refseq_name": "solute carrier family 15 member 4",
"refseq_ac": [
{
"id": "NP_663623",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_663623",
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}
],
"gene_names_uniprotkb": "SLC15A4; FP12591; PHT1; PTR4",
"gene_names_refseq": "FP12591; PHT1; PTR4; SLC15A4",
"protein_names_uniprotkb": "Solute carrier family 15 member 4; Peptide transporter 4; Peptide/histidine transporter 1; hPHT1",
"protein_names_refseq": "hPHT1; peptide transporter 4; peptide-histidine transporter 4; peptide/histidine transporter 1; solute carrier family 15 (oligopeptide transporter), member 4; solute carrier family 15 member 4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:121260); (R-HSA-427975); (R-HSA-6798695); (R-HSA-9860276)",
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"publication_id_list": "10.1101/2023.09.13.557529;11237011;11741232;11741260;15498874;16289537;18259684;18836453;19838193;23186163;23481700;23650620;24190977;24715725;25238095;25326418;25326420;25502872;25880248;25892735;26154972;26375851;26552660;26992070;27090790;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29224352;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30429286;31073693;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32433612;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33912179;33968037;34171305;34357683;34932366;35051231;35154160;35580925;36010968;37074911;37610621;37863876;37863913;39719710;41018975;7896779;8692836;9299407",
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"function": "A conformation-locking inhibitor of SLC15A4 with TASL proteostatic anti-inflammatory activity. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oligopeptide/Histidine Transporter PHT1 and PHT2 - Function, Regulation, and Pathophysiological Implications Specifically in Immunoregulation. Review article, [RefSeq, PubMed]; Proton-coupled amino-acid transporter that mediates the transmembrane transport of L-histidine and some di- and tripeptides from inside the lysosome to the cytosol, and plays a key role in innate immune response (PubMed:16289537, PubMed:25238095, PubMed:29224352, PubMed:39719710). Preferably binds to short peptides with a basic residue at the first position and a hydrophobic residue at the second position (PubMed:39719710). Able to transport a variety of di- and tripeptides, including carnosine and some peptidoglycans (PubMed:29224352, PubMed:31073693). Transporter activity is pH-dependent and maximized in the acidic lysosomal environment (By similarity). Involved in the detection of microbial pathogens by toll-like receptors (TLRs) and NOD-like receptors (NLRs), probably by mediating transport of bacterial peptidoglycans across the endolysosomal membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand, and L-alanyl-gamma-D-glutamyl-meso-2,6-diaminoheptanedioate (tri-DAP), the NOD1 ligand (PubMed:25238095, PubMed:29224352). Required for TLR7, TLR8 and TLR9-mediated type I interferon (IFN-I) productions in plasmacytoid dendritic cells (pDCs) (PubMed:25238095). Independently of its transporter activity, also promotes the recruitment of innate immune adapter TASL to endolysosome downstream of TLR7, TLR8 and TLR9: TASL recruitment leads to the specific recruitment and activation of IRF5 (PubMed:32433612, PubMed:39719710). Required for isotype class switch recombination to IgG2c isotype in response to TLR9 stimulation (By similarity). Required for mast cell secretory-granule homeostasis by limiting mast cell functions and inflammatory responses (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Structural basis for recruitment of TASL by SLC15A4 in human endolysosomal TLR signaling. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005290 L-histidine transmembrane transporter activity;GO:0015333 peptide:proton symporter activity;GO:0071916 dipeptide transmembrane transporter activity;GO:0015647 peptidoglycan transmembrane transporter activity;GO:0015293 symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane",
"go_biological_process": "GO:0048302 regulation of isotype switching to IgG isotypes;GO:0070430 positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway;GO:0015031 protein transport;GO:0045087 innate immune response;GO:0035672 oligopeptide transmembrane transport",
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},
{
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{
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"type": "external"
}
],
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"protein_name": "Zinc finger protein 260",
"gene_name": "ZNF260",
"organism": "Human",
"refseq_name": "zinc finger protein 260",
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{
"id": "NP_001012774",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012774",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF260; ZFP260",
"gene_names_refseq": "OZRF1; ZFP260; ZNF260",
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"protein_names_refseq": "zfp-260; zinc finger protein 260",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:339324)",
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"publication_id_list": "16166646;25576301;27862975;29393594;30484775;31154438;31844290;31848261;32157095;32938616;33968037;36010968",
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"function": "Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity)., [UniProtKB]; Zfp260 is a novel transcriptional regulator in normal and pathological heart development and a nuclear effector of alpha1-adrenergic signaling, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol",
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},
{
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],
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"length": 953,
"protein_name": "Nucleotide-binding oligomerization domain-containing protein 1",
"gene_name": "NOD1",
"organism": "Human",
"refseq_name": "nucleotide-binding oligomerization domain-containing protein 1 isoform 1",
"refseq_ac": [
{
"id": "NP_006083",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006083",
"type": "external"
}
],
"gene_names_uniprotkb": "NOD1; CARD4",
"gene_names_refseq": "CARD4; CLR7.1; NLRC1; NOD1; hNod1",
"protein_names_uniprotkb": "Nucleotide-binding oligomerization domain-containing protein 1; Caspase recruitment domain-containing protein 4; hNod1",
"protein_names_refseq": "NLR family, CARD domain containing 1; caspase recruitment domain family, member 4; caspase recruitment domain-containing protein 4; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1; nucleotide-binding oligomerization domain-containing protein 1 isoform 1; nucleotide-binding oligomerization domain-containing protein 1",
"tax_id": 9606,
"disease": "asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483)",
"pathway": " (hsa:10392); (R-HSA-168638); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-5689896); (R-HSA-9020702); (R-HSA-9705671)",
"pathway_count": 8,
"publication_count": 189,
"publication_id_list": "10075690;10224040;10329646;10385526;10514433;10702308;10723127;10854325;10880512;10882101;10918611;11058605;11087742;11094434;11237011;11460167;11463333;11960013;12019269;12171911;12496252;12514169;12527755;12538665;12692549;12759408;12791687;12791997;12796777;12860405;12871942;12917691;14514672;14625308;14633987;14661020;15044951;15145317;15208624;15258597;15327770;15334086;15620648;15837794;15917247;16056267;16172124;16186825;16211083;17047224;17054981;17135271;17141195;17173864;17303577;17496917;17507369;17562858;17675297;17728323;17890055;17970764;17997719;18070982;18079694;18180283;18186648;1828071;1833184;18438411;18462684;19043560;19264966;19383985;19464428;19535145;19818707;19903815;19996094;20300203;20553488;2139180;2147937;22124327;22672233;22941947;23300079;23827681;24598002;24610782;25012219;25127239;25904330;26280536;27007849;27099311;27466718;27701768;29393594;2946959;29493099;29557506;29671171;30478312;31649195;31844290;31850239;32157095;32169843;32353859;32387766;32428392;32589897;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33942347;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35102342;35580925;35643212;36221902;37051252;37350445;37488967;37996457;39191757;7628694;8327496;8332913;8533096;8599092;8622669;8837778;9346484;9371760;9430229;9430721;9744859;9768359;9859996;9865693;9990852;9990853",
"class_list": "",
"function": "Association between genetic polymorphisms of NOD1, Interleukin-1B, and cagA strain with low-grade duodenal eosinophilia in Helicobacter pylori-related dyspepsia., [RefSeq, PubMed]; In contrast to isoform 1, does not efficiently recognize and bind gamma-D-glutamyl-meso-diaminopimelic acid (iE-DAP) ligand., [UniProtKB, PubMed]; NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2- and NF-kB-independent manner., [RefSeq, PubMed]; Nod1-dependent NF-kB activation initiates hematopoietic stem cell specification in response to small Rho GTPases. Publication Status: Online-Only, [RefSeq, PubMed]; Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and thus participates in both innate and adaptive immune responses (PubMed:11058605, PubMed:12791997, PubMed:12796777, PubMed:15044951, PubMed:16172124, PubMed:19043560, PubMed:22672233, PubMed:27099311). Specifically recognizes and binds gamma-D-glutamyl-meso-diaminopimelic acid (iE-DAP), a dipeptide present in peptidoglycan of Gram-negative bacteria (PubMed:12791997, PubMed:12796777, PubMed:12871942, PubMed:16172124, PubMed:16211083). Preferentially binds iE-DAP in tripeptide-containing muropeptides (MurNAc-TriDAP or TriDAP) (PubMed:16211083). Ligand binding triggers oligomerization that facilitates the binding and subsequent activation of the proximal adapter receptor-interacting RIPK2 (PubMed:12791997, PubMed:12796777, PubMed:17054981). Following recruitment, RIPK2 undergoes 'Met-1'- (linear) and 'Lys-63'-linked polyubiquitination by E3 ubiquitin-protein ligases XIAP, BIRC2, BIRC3 and the LUBAC complex, becoming a scaffolding protein for downstream effectors, triggering activation of the NF-kappa-B and MAP kinases signaling (PubMed:10880512, PubMed:12791997, PubMed:19043560). This in turn leads to the transcriptional activation of hundreds of genes involved in immune response (PubMed:10880512, PubMed:19043560). Also acts as a regulator of antiviral response elicited by dsRNA and the expression of RLR pathway members by targeting IFIH1 and TRAF3 to modulate the formation of IFIH1-MAVS and TRAF3-MAVS complexes leading to increased transcription of type I IFNs (PubMed:32169843). Also acts as a regulator of autophagy via its interaction with ATG16L1, possibly by recruiting ATG16L1 at the site of bacterial entry (By similarity). Besides recognizing pathogens, also involved in the endoplasmic reticulum stress response: acts by sensing and binding to the cytosolic metabolite sphingosine-1-phosphate generated in response to endoplasmic reticulum stress, initiating an inflammation process that leads to activation of the NF-kappa-B and MAP kinases signaling (PubMed:27007849, PubMed:33942347). In addition, plays a role in insulin trafficking in beta cells in a cell-autonomous manner (By similarity). Mechanistically, upon recognizing cognate ligands, NOD1 and RIPK2 localize to insulin vesicles where they recruit RAB1A to direct insulin trafficking through the cytoplasm (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The HOXC10/NOD1/ERK axis drives osteolytic bone metastasis of pan-KRAS-mutant lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]., [RefSeq]",
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"glyco_site_count": 0,
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"secondary_ac_list": "B4DTU3;Q549U4;Q8IWF5",
"ec_number_list": [],
"go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0070427 nucleotide-binding oligomerization domain containing 1 signaling pathway;GO:0002221 pattern recognition receptor signaling pathway;GO:0009595 detection of biotic stimulus;GO:0006952 defense response;GO:0006954 inflammatory response",
"synthesized_glycan_count": 0,
"hit_score": 19.2,
"record_id": "Q9Y239-1",
"record_type": "protein",
"filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y6X1-1",
"uniprot_id": [
{
"id": "SERP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y6X1",
"type": "external"
}
],
"mass": 7374.0,
"length": 66,
"protein_name": "Stress-associated endoplasmic reticulum protein 1",
"gene_name": "SERP1",
"organism": "Human",
"refseq_name": "stress-associated endoplasmic reticulum protein 1",
"refseq_ac": [
{
"id": "NP_055260",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055260",
"type": "external"
}
],
"gene_names_uniprotkb": "SERP1; RAMP4",
"gene_names_refseq": "RAMP4; SERP1",
"protein_names_uniprotkb": "Stress-associated endoplasmic reticulum protein 1; Ribosome-attached membrane protein 4",
"protein_names_refseq": "ribosome associated membrane protein 4; ribosome-attached membrane protein 4; stress-associated endoplasmic reticulum protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27230); (R-HSA-381038); (R-HSA-9609523)",
"pathway_count": 3,
"publication_count": 69,
"publication_id_list": "10601334;10827079;10931946;11230166;11237011;12204115;15466936;15708368;16461360;16539657;16777091;17382883;18477612;18664523;19913121;20375064;20628086;20676083;21282569;21444755;21466504;21636303;21743475;22419128;23041287;23129660;23142665;23246001;23533635;24392163;24715725;25179605;25415308;25535373;25576301;25713138;26675233;26992070;27193484;27226539;27458190;28104892;28904123;29242231;29557506;31154438;31844290;31848261;32157095;32161166;32184288;32265295;32534478;32983136;33592498;33691108;33936100;33968037;34613934;35251023;35580925;36241641;36417821;37938771;7590364;8666242;9037597;9450183;9473480",
"class_list": "",
"function": "CircWDR33 alleviates human pulmonary microvascular endothelial cell injury in sepsis-associated acute lung injury by targeting miR-217-5p/SERP1 axis., [RefSeq, PubMed]; Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Interacts with target proteins during translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation and facilitate correct glycosylation., [UniProtKB, UniProtKB, UniProtKB]; Let-7b-5p is involved in the response of endoplasmic reticulum stress in acute pulmonary embolism through upregulating the expression of stress-associated endoplasmic reticulum protein 1., [RefSeq, PubMed]; Low expression of endoplasmic reticulum stress-related gene SERP1 is associated with poor prognosis and immune infiltration in skin cutaneous melanoma., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SERP1 is an assembly regulator of gamma-secretase in metabolic stress conditions. Publication Status: Online-Only, [RefSeq, PubMed]; SFRP1 DNA methylation, accumulates with age in normal-appearing kidney tissues and is associated with increased renal cancer risk., [RefSeq, PubMed]",
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"secondary_ac_list": "D3DNI6",
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"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0005840 ribosome;GO:0005881 cytoplasmic microtubule",
"go_biological_process": "GO:0036211 protein modification process;GO:0007009 plasma membrane organization;GO:0015031 protein transport;GO:0009101 glycoprotein biosynthetic process;GO:0030968 endoplasmic reticulum unfolded protein response",
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},
{
"uniprot_canonical_ac": "Q16288-1",
"uniprot_id": [
{
"id": "NTRK3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16288",
"type": "external"
}
],
"mass": 94428.0,
"length": 839,
"protein_name": "NT-3 growth factor receptor",
"gene_name": "NTRK3",
"organism": "Human",
"refseq_name": "NT-3 growth factor receptor isoform a precursor",
"refseq_ac": [
{
"id": "NP_001012338",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012338",
"type": "external"
}
],
"gene_names_uniprotkb": "NTRK3; TRKC",
"gene_names_refseq": "GP145-TrkC; NTRK3; TRKC; gp145(trkC)",
"protein_names_uniprotkb": "NT-3 growth factor receptor; 2.7.10.1; GP145-TrkC; Neurotrophic tyrosine kinase receptor type 3; Trk-C; TrkC tyrosine kinase",
"protein_names_refseq": "ETS related protein-neurotrophic receptor tyrosine kinase fusion protein; ETV6-NTRK3 fusion; NT-3 growth factor receptor isoform a precursor; NT-3 growth factor receptor; neurotrophic tyrosine kinase, receptor, type 3; tyrosine kinase receptor C",
"tax_id": 9606,
"disease": "adenoid cystic carcinoma (Disease Ontology:DOID:0080202); stomach cancer (Disease Ontology:DOID:10534); invasive ductal carcinoma (Disease Ontology:DOID:3008); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); borna disease (Disease Ontology:DOID:5154); colorectal cancer (Disease Ontology:DOID:9256)",
"pathway": " (hsa:4916); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-388844); (R-HSA-6811558); (R-HSA-9034013); (R-HSA-9034015); (R-HSA-9034793); (R-HSA-9034864); (R-HSA-9603381); (R-HSA-9603505)",
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"class_list": "",
"function": "Expression and prognostic impact of NTF3 and TrkC in hepatocellular carcinoma., [RefSeq, PubMed]; High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology., [RefSeq, PubMed]; NTRK3 exhibits a pro-oncogenic function in upper tract urothelial carcinomas., [RefSeq, PubMed]; Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation., [UniProtKB, PubMed]; Srsf1 and Elavl1 act antagonistically on neuronal fate choice in the developing neocortex by controlling TrkC receptor isoform expression. Erratum:[Nucleic Acids Res. 2024 Feb 9;52(3):1522. doi: 10.1093/nar/gkad1238. PMID: 38142458], [RefSeq, PubMed]; This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]., [RefSeq]",
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}
],
"go_molecular_function": "GO:0043121 neurotrophin binding;GO:0005524 ATP binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0002039 p53 binding;GO:0005030 neurotrophin receptor activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030424 axon",
"go_biological_process": "GO:0097107 postsynaptic density assembly;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007507 heart development;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression",
"synthesized_glycan_count": 0,
"hit_score": 9.3,
"record_id": "Q16288-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000000011001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NCF5-1",
"uniprot_id": [
{
"id": "NF2IP_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NCF5",
"type": "external"
}
],
"mass": 45817.0,
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"protein_name": "NFATC2-interacting protein",
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"organism": "Human",
"refseq_name": "NFATC2-interacting protein isoform 1",
"refseq_ac": [
{
"id": "NP_116204",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116204",
"type": "external"
}
],
"gene_names_uniprotkb": "NFATC2IP; NIP45",
"gene_names_refseq": "ESC2; NFATC2IP; NIP45; RAD60",
"protein_names_uniprotkb": "NFATC2-interacting protein; 45 kDa NF-AT-interacting protein; 45 kDa NFAT-interacting protein; Nuclear factor of activated T-cells, cytoplasmic 2-interacting protein",
"protein_names_refseq": "45 kDa NF-AT-interacting protein; 45 kDa NFAT-interacting protein; NFATC2-interacting protein isoform 1; NFATC2-interacting protein; nuclear factor of activated T-cells, cytoplasmic 2-interacting protein; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84901)",
"pathway_count": 1,
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"publication_id_list": "11237011;16964243;17081983;17287340;18452278;18669648;18767875;19651622;19664994;19664995;19690332;20058876;20068231;20410506;21406692;23186163;23301498;23481700;24275569;24714562;24715725;25576301;26154972;26728094;26992070;27600516;27846572;28063628;28514659;28832583;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29789417;30315122;30429286;31154438;31530632;31666531;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33968037;34087483;34171305;34265397;34405274;34561969;35051231;35580925;36010968;37938771;38503515;40914422",
"class_list": "",
"function": "Calcium channel TRPV6 promotes breast cancer metastasis by NFATC2IP., [RefSeq, PubMed]; In T-helper 2 (Th2) cells, regulates the magnitude of NFAT-driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 'Arg-3'-methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity)., [UniProtKB]; NFATC2IP is a mediator of SUMO-dependent genome integrity. Publication Status: Online-Only, [RefSeq, PubMed]; Targeted deletion of NFAT-Interacting-Protein-(NIP) 45 resolves experimental asthma by inhibiting Innate Lymphoid Cells group 2 (ILC2). Publication Status: Online-Only, [RefSeq, PubMed]; ZBTB25 functions as a negative regulator of nuclear factor of activated T cells (NF-AT) activation, such that RNA interference mediated knockdown resulted in enhanced activation of target genes., [RefSeq, PubMed]",
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"secondary_ac_list": "B7Z4G5;Q66K34;Q6NVK1;Q8NFR2;Q96ST9",
"ec_number_list": [],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0016925 protein sumoylation;GO:0045944 positive regulation of transcription by RNA polymerase II",
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},
{
"uniprot_canonical_ac": "Q15406-1",
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{
"id": "NR6A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15406",
"type": "external"
}
],
"mass": 54383.0,
"length": 480,
"protein_name": "Nuclear receptor subfamily 6 group A member 1",
"gene_name": "NR6A1",
"organism": "Human",
"refseq_name": "nuclear receptor subfamily 6 group A member 1 isoform 4",
"refseq_ac": [
{
"id": "NP_001265475",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265475",
"type": "external"
}
],
"gene_names_uniprotkb": "NR6A1; GCNF",
"gene_names_refseq": "CT150; GCNF1; GCNF; NR61; NR6A1; RTR; hGCNF; hRTR",
"protein_names_uniprotkb": "Nuclear receptor subfamily 6 group A member 1; GCNF; Germ cell nuclear factor; RTR; Retinoid receptor-related testis-specific receptor; hGCNF; hRTR",
"protein_names_refseq": "nuclear receptor subfamily 6 group A member 1 isoform 4; retinoic acid receptor-related testis-associated receptor; retinoid receptor-related testis-specific receptor",
"tax_id": 9606,
"disease": "oculovertebral syndrome (MONDO:MONDO:0979866)",
"pathway": " (hsa:2649)",
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"publication_count": 27,
"publication_id_list": "11237011;12080054;19664994;26769970;29393594;29557506;30315122;31315616;31530632;31844290;32357974;32387766;32488085;33006200;33912179;33968037;34509645;34689384;34932366;35051231;37903971;40610405;8982251;9134503;9177477;9493564;9537518",
"class_list": "",
"function": "Hsa_circ_001653 up-regulates NR6A1 expression and elicits gastric cancer progression by binding to microRNA-377., [RefSeq, PubMed]; Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Novel LAMC2 fusion protein has tumor-promoting properties in ovarian carcinoma., [RefSeq, PubMed]; Orphan nuclear receptor that binds to a response element containing the sequence 5'-TCAAGGTCA-3' (PubMed:26769970). Acts as a regulator of embryonic stem cell pluripotency by mediating repression of POU5F1/OCT4: binds to the DR0 element within the POU5F1/OCT4 promoter and inhibits POU5F1/OCT4 expression during embryonic stem cell differentiation (PubMed:26769970). Involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed]; The role of NR6A1 in the lipogenesis in HepG2 cells Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]., [RefSeq]",
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"secondary_ac_list": "O00551;O00603;Q5T6F4;Q8NHQ0;Q92898;Q99802",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:2000741 positive regulation of mesenchymal stem cell differentiation;GO:0007276 gamete generation",
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},
{
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{
"id": "SE1L2_HUMAN",
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"type": "external"
}
],
"mass": 77964.0,
"length": 688,
"protein_name": "Protein sel-1 homolog 2",
"gene_name": "SEL1L2",
"organism": "Human",
"refseq_name": "protein sel-1 homolog 2 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001258468",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258468",
"type": "external"
}
],
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"gene_names_refseq": "C20orf50; SEL1L2; sel-1L2",
"protein_names_uniprotkb": "Protein sel-1 homolog 2; Sel-1L2; Suppressor of lin-12-like protein 2",
"protein_names_refseq": "SEL1L2 adaptor subunit of ERAD E3 ligase; SEL1L2 adaptor subunit of ERAD E3 ubiquitin ligase; SEL1L2, ERAD E3 ligase adaptor subunit; protein sel-1 homolog 2 isoform 1 precursor; protein sel-1 homolog 2; sel-1 suppressor of lin-12-like 2; suppressor of lin-12-like protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:80343)",
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},
{
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{
"id": "TS1R1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7RTX1",
"type": "external"
}
],
"mass": 93074.0,
"length": 841,
"protein_name": "Taste receptor type 1 member 1",
"gene_name": "TAS1R1",
"organism": "Human",
"refseq_name": "taste receptor type 1 member 1 isoform b precursor",
"refseq_ac": [
{
"id": "NP_619642",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_619642",
"type": "external"
}
],
"gene_names_uniprotkb": "TAS1R1; GM148; GPR70; T1R1; TR1",
"gene_names_refseq": "GM148; GPR70; T1R1; TAS1R1; TR1",
"protein_names_uniprotkb": "Taste receptor type 1 member 1; G protein-coupled receptor 70",
"protein_names_refseq": "G-protein coupled receptor 70; seven transmembrane helix receptor; taste receptor type 1 member 1 isoform b precursor; taste receptor, type 1, member 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:80835); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)",
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"publication_count": 83,
"publication_id_list": "10761935;11007482;11208605;11237011;11891061;11894099;11917125;12015988;12120503;1325650;1329206;14634208;15194188;15353592;15385606;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23481700;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24715725;2534964;25853419;26377607;26992070;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;31844290;32578798;32938616;33654187;34171305;35051231;36241641;37539767;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316",
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"function": "Association of taste receptor gene polymorphisms with dental caries. Publication Status: Online-Only, [RefSeq, PubMed]; Findings demonstrate the different functional roles of T1R3 and T1R2 and the presence of multiple ligand binding sites on the sweet taste receptor, [RefSeq, PubMed]; Gene expression analyses of TAS1R taste receptors relevant to the treatment of cardiometabolic disease., [RefSeq, PubMed]; Polymorphic variants in Sweet and Umami taste receptor genes and birthweight. Publication Status: Online-Only, [RefSeq, PubMed]; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses., [UniProtKB, PubMed]; Sequence differences in T1R receptors within and between species (human and mouse) can significantly influence the selectivity and specificity of taste responses, [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
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},
{
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{
"id": "O10J3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JRS4",
"type": "external"
}
],
"mass": 36549.0,
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"protein_name": "Olfactory receptor 10J3",
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"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
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"gene_names_refseq": "",
"protein_names_uniprotkb": "Olfactory receptor 10J3",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "",
"pathway": " (R-HSA-9752946)",
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"publication_count": 6,
"publication_id_list": "11237011;24800820;27515280;31974307;32066986;34087483",
"class_list": "",
"function": "Odorant receptor., [UniProtKB]",
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},
{
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}
],
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"protein_name": "E3 ubiquitin-protein ligase ZNRF1",
"gene_name": "ZNRF1",
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],
"gene_names_uniprotkb": "ZNRF1; NIN283",
"gene_names_refseq": "NIN283; ZNRF1",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase ZNRF1; 2.3.2.27; Nerve injury-induced gene 283 protein; RING-type E3 ubiquitin transferase ZNRF1; Zinc/RING finger protein 1",
"protein_names_refseq": "E3 ubiquitin-protein ligase ZNRF1; RING-type E3 ubiquitin transferase ZNRF1; nerve injury gene 283; nerve injury-induced gene 283 protein; zinc and ring finger 1, E3 ubiquitin protein ligase; zinc and ring finger protein 1; zinc/RING finger protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84937); (R-HSA-983168)",
"pathway_count": 2,
"publication_count": 51,
"publication_id_list": "11062501;11230166;11237011;11350924;11427537;12646216;14561866;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19690332;19851334;19874575;19940261;2261476;22797923;23186163;23481700;25576301;26375851;26572622;27600516;27846572;27920218;28593998;28649982;28832583;29242379;29493099;29508533;29626159;30429286;31844290;31998317;32157095;33298915;33981976;33996800;36966254;37158982;9380723;9668046",
"class_list": "",
"function": "Data suggest that ZNRF proteins play a role in the establishment and maintenance of neuronal transmission and plasticity via their ubiquitin ligase activity, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that plays a role in different processes including cell differentiation, receptor recycling or regulation of inflammation (PubMed:28593998, PubMed:33996800, PubMed:37158982). Mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons. Ubiquitinates the Na(+)/K(+) ATPase alpha-1 subunit/ATP1A1 and thereby influences its endocytosis and/or degradation (PubMed:22797923). Controls ligand-induced EGFR signaling via mediating receptor ubiquitination and recruitment of the ESCRT machinery (PubMed:33996800). Acts as a negative feedback mechanism controlling TLR3 trafficking by mediating TLR3 'Lys-63'-linked polyubiquitination to reduce type I IFN production (PubMed:37158982). Modulates inflammation by promoting caveolin-1/CAV1 ubiquitination and degradation to regulate TLR4-activated immune response (PubMed:28593998)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LZTFL1 inhibits kidney tumor cell growth by destabilizing AKT through ZNRF1-mediated ubiquitin proteosome pathway., [RefSeq, PubMed]; This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_phosphosites": 5,
"reported_mutagensis": 7,
"reported_glycation": 0,
"reported_snv": 0,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "D3DUJ9;Q9H083",
"ec_number_list": [
{
"id": "2.3.2.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24",
"type": "external"
},
{
"id": "2.3.2.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23",
"type": "external"
},
{
"id": "2.3.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "2.3.2.31",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31",
"type": "external"
},
{
"id": "2.3.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-",
"type": "external"
},
{
"id": "6.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
"type": "external"
},
{
"id": "2.3.2.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34",
"type": "external"
},
{
"id": "2.3.2.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32",
"type": "external"
},
{
"id": "3.6.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-",
"type": "external"
},
{
"id": "2.3.2.25",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25",
"type": "external"
},
{
"id": "2.3.2.36",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36",
"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0034145 positive regulation of toll-like receptor 4 signaling pathway;GO:0160177 positive regulation of autophagosome-lysosome fusion",
"synthesized_glycan_count": 0,
"hit_score": 5.2,
"record_id": "Q8ND25-1",
"record_type": "protein",
"filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z769-1",
"uniprot_id": [
{
"id": "S35E3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z769",
"type": "external"
}
],
"mass": 35066.0,
"length": 313,
"protein_name": "Solute carrier family 35 member E3",
"gene_name": "SLC35E3",
"organism": "Human",
"refseq_name": "solute carrier family 35 member E3 isoform 1",
"refseq_ac": [
{
"id": "NP_061126",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061126",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC35E3; BLOV1; PRO9859",
"gene_names_refseq": "BLOV1; SLC35E3",
"protein_names_uniprotkb": "Solute carrier family 35 member E3; Bladder cancer-overexpressed gene 1 protein",
"protein_names_refseq": "bladder cancer-overexpressed gene 1 protein; solute carrier family 35 member E3 isoform 1; solute carrier family 35, member E2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55508)",
"pathway_count": 1,
"publication_count": 11,
"publication_id_list": "11237011;12975309;25576301;29557506;31844290;32357974;34171305;34357683;35051231;36010968;37938771",
"class_list": "",
"function": "Putative transporter., [UniProtKB]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
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"predicted_s_glycosites": 0,
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"missing_score": 10000,
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"secondary_ac_list": "A8K0T0;Q0P5Y5;Q9P0V1",
"ec_number_list": [],
"go_molecular_function": "GO:0015297 antiporter activity;GO:0005338 nucleotide-sugar transmembrane transporter activity",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane",
"go_biological_process": "GO:0055085 transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 1.2,
"record_id": "Q7Z769-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7L1T6-1",
"uniprot_id": [
{
"id": "NB5R4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7L1T6",
"type": "external"
}
],
"mass": 59474.0,
"length": 521,
"protein_name": "Cytochrome b5 reductase 4",
"gene_name": "CYB5R4",
"organism": "Human",
"refseq_name": "cytochrome b5 reductase 4",
"refseq_ac": [
{
"id": "NP_057314",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057314",
"type": "external"
}
],
"gene_names_uniprotkb": "CYB5R4; NCB5OR",
"gene_names_refseq": "CYB5R4; NCB5OR; cb5/cb5R; dJ676J13.1",
"protein_names_uniprotkb": "Cytochrome b5 reductase 4; 1.6.2.2; Flavohemoprotein b5/b5R; N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein; b5+b5R; cb5/cb5R",
"protein_names_refseq": "N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein; NADPH cytochrome B5 oxidoreductase; cytochrome b-type NAD(P)H oxidoreductase; cytochrome b5 reductase 4; flavohemoprotein b5+b5R; flavohemoprotein b5/b5R",
"tax_id": 9606,
"disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:51167); (R-HSA-1237044)",
"pathway_count": 2,
"publication_count": 86,
"publication_id_list": "10090333;10529219;10611283;11237011;11606574;12754312;12933803;1311094;1395;14958;15131110;15501038;15504981;1554744;15858218;16563834;16959974;16992238;16994616;17012249;17712059;17990881;19273840;19668749;19913121;20162361;20230836;20628086;20630863;21041929;2111324;22627575;234739;23481700;23523930;24366607;25418920;25937211;26154972;26811146;26878259;26929215;28228285;28649982;28832583;28904123;29242379;29393594;29557506;29632046;3080418;31092671;31154438;3136125;31844290;32387766;32502341;32938616;32983136;33298915;33717175;33912179;33968037;34087483;34357683;35051231;35561310;35580925;36241641;38041394;4514311;4647257;4975618;4994926;5656372;6407977;6433979;6819139;8070313;8300612;8875343;8972395;9054574;9143858;9336012;9486145",
"class_list": "",
"function": "Cytosolic localization of NADH cytochrome b oxidoreductase, [RefSeq, PubMed]; Data provide first evidence for natural mutations in NCB5OR gene resulting in decreased protein levels and hence having potential implications in human pathology., [RefSeq, PubMed]; Mutation in cytochrome b5 reductase is associated with developmental delay and severe neurological problems., [RefSeq, PubMed]; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin., [UniProtKB]; NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]., [RefSeq]; NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain., [RefSeq, PubMed]; The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b5 core to form a helical motif that is of ancient origin., [RefSeq, PubMed]; Variaation in the coding region is not a major contributor in the pathogenesis of nonautoimmune diabetes. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
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"secondary_ac_list": "B1AEM2;Q5TGI9;Q9NUE4;Q9UHI9",
"ec_number_list": [
{
"id": "1.6.2.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2",
"type": "external"
}
],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity;GO:0016653 oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor;GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0042593 glucose homeostasis;GO:0046677 response to antibiotic;GO:0072593 reactive oxygen species metabolic process;GO:0030073 insulin secretion;GO:0015701 bicarbonate transport",
"synthesized_glycan_count": 0,
"hit_score": 8.7,
"record_id": "Q7L1T6-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P52849-1",
"uniprot_id": [
{
"id": "NDST2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52849",
"type": "external"
}
],
"mass": 100875.0,
"length": 883,
"protein_name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2",
"gene_name": "NDST2",
"organism": "Human",
"refseq_name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001317036",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036",
"type": "external"
}
],
"gene_names_uniprotkb": "NDST2; HSST2",
"gene_names_refseq": "HSST2; N-HSST 2; NDST2; NST2",
"protein_names_uniprotkb": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2; 2.8.2.8; Glucosaminyl N-deacetylase/N-sulfotransferase 2; N-HSST 2; N-heparan sulfate sulfotransferase 2; NDST-2",
"protein_names_refseq": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2; N-heparan sulfate sulfotransferase 2; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 2; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2; glucosaminyl N-deacetylase/N-sulfotransferase 2",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); azoospermia (Disease Ontology:DOID:14227); germ cell cancer (Disease Ontology:DOID:2994)",
"pathway": " (hsa:8509); (R-HSA-2022928)",
"pathway_count": 2,
"publication_count": 57,
"publication_id_list": "10318803;10639137;10644753;10677367;10716625;10758005;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12492399;12634318;15082721;15607426;16343444;20554947;21700882;22660413;24190977;25880248;26375851;26992070;27846572;28132690;28148688;28218747;28228285;28832583;29242379;29437277;29632046;30471091;31020640;31844290;32157095;32350084;32897882;32938616;33159882;33298915;33592498;33912179;33968037;34357683;35051231;35154160;35676258;7601448;9346953;9463333;9535912;9601056;9915799;9988767",
"class_list": "glycogene",
"function": "Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]., [RefSeq]",
"predicted_glycosites": 5,
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"reported_snv": 898,
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"missing_score": 10000,
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"secondary_ac_list": "Q2TB32;Q59H89",
"ec_number_list": [
{
"id": "3.-.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.-.-.-",
"type": "external"
},
{
"id": "2.8.2.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.8",
"type": "external"
},
{
"id": "3.5.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-",
"type": "external"
},
{
"id": "2.8.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-",
"type": "external"
}
],
"go_molecular_function": "GO:0019213 deacetylase activity;GO:0015016 heparan sulfate N-sulfotransferase activity;GO:0050119 N-acetylglucosamine deacetylase activity;GO:0102140 heparan sulfate N-deacetylase activity;GO:0008146 sulfotransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane",
"go_biological_process": "GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process",
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"hit_score": 5.9,
"record_id": "P52849-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P56181-1",
"uniprot_id": [
{
"id": "NDUV3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P56181",
"type": "external"
}
],
"mass": 11941.0,
"length": 108,
"protein_name": "NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial",
"gene_name": "NDUFV3",
"organism": "Human",
"refseq_name": "NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform b precursor",
"refseq_ac": [
{
"id": "NP_001001503",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001503",
"type": "external"
}
],
"gene_names_uniprotkb": "NDUFV3",
"gene_names_refseq": "CI-10k; CI-9KD; NDUFV3",
"protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial; CI-9kD; Complex I-9kD; NADH-ubiquinone oxidoreductase 9 kDa subunit; Renal carcinoma antigen NY-REN-4",
"protein_names_refseq": "NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa; NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform b precursor; NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial; NADH-ubiquinone oxidoreductase 9 kD subunit; NADH-ubiquinone oxidoreductase 9 kDa subunit; NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD; complex I 10kDa subunit; complex I, mitochondrial respiratory chain, 10-kD subunit; complex I-9kD; mitochondrial NADH oxidoreductase-like protein; renal carcinoma antigen NY-REN-4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4731); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)",
"pathway_count": 4,
"publication_count": 92,
"publication_id_list": "10327278;10508479;10950923;11220739;11695836;11923310;12198491;12231006;12611891;12837546;1327877;14623864;14741580;15250827;15522782;15870080;16115876;16230336;17033964;17101804;17297443;17579211;17936786;186667;18691976;19752196;19841671;20406883;20552642;20858599;21924235;22262461;22710082;23150584;23186163;23201127;23270816;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;25564869;25678554;26504172;26923599;26992070;27496948;27499296;27626371;27642048;28377575;28396416;28832583;28834231;28904123;29242379;29301859;29932645;30120231;30429286;30779550;31154438;31327635;31611695;31666358;31695197;31844290;31866046;32157095;32320651;32488085;32983136;33257573;33879611;33882309;34704252;34943861;35333655;35580925;35614220;35870450;36629048;38199007;4288886;7623837;9344673;9571201;9878551",
"class_list": "",
"function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I., [UniProtKB, PubMed]; The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8K0M1;J3KNX7;Q6FGD3;Q8WU60;Q9HCR5",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I",
"go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0042775 mitochondrial ATP synthesis coupled electron transport;GO:0009060 aerobic respiration",
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},
{
"uniprot_canonical_ac": "Q13562-1",
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{
"id": "NDF1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13562",
"type": "external"
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],
"mass": 39920.0,
"length": 356,
"protein_name": "Neurogenic differentiation factor 1",
"gene_name": "NEUROD1",
"organism": "Human",
"refseq_name": "neurogenic differentiation factor 1",
"refseq_ac": [
{
"id": "NP_002491",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002491",
"type": "external"
}
],
"gene_names_uniprotkb": "NEUROD1; BHLHA3; NEUROD",
"gene_names_refseq": "BETA2; BHF-1; MODY6; NEUROD1; NEUROD; T2D; bHLHa3",
"protein_names_uniprotkb": "Neurogenic differentiation factor 1; Class A basic helix-loop-helix protein 3; NeuroD1; NeuroD; bHLHa3",
"protein_names_refseq": "basic helix-loop-helix transcription factor; beta-cell E-box transactivator 2; class A basic helix-loop-helix protein 3; neurogenic differentiation factor 1; neurogenic helix-loop-helix protein NEUROD",
"tax_id": 9606,
"disease": "type 1 diabetes mellitus 7 (Disease Ontology:DOID:0110746); maturity-onset diabetes of the young type 6 (Disease Ontology:DOID:0111104); glucose intolerance (Disease Ontology:DOID:10603); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:4760); (R-HSA-210745); (R-HSA-210746)",
"pathway_count": 3,
"publication_count": 21,
"publication_id_list": "10366743;10545951;11719843;12403815;12482979;12810726;14752053;16026366;16511571;21697133;25477324;26773576;30078552;30192525;31844290;37981832;37987107;38386071;8786144;8915591;9144558",
"class_list": "",
"function": "Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)., [UniProtKB, UniProtKB]; Application of Small Cell Lung Cancer Molecular Subtyping Markers to Small Cell Neuroendocrine Carcinoma of the Cervix: NEUROD1 as a Poor Prognostic Factor., [RefSeq, PubMed]; Promoter-Specific Variants in NeuroD1 and H3K4me3 Coincident Regions and Clinical Outcomes of Small Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B2R9I8;F1T0E1;O00343;Q13340;Q5U095;Q96TH0;Q99455;Q9UEC8",
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"go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032024 positive regulation of insulin secretion;GO:0043065 positive regulation of apoptotic process;GO:0045666 positive regulation of neuron differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II",
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},
{
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{
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],
"mass": 41361.0,
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"protein_name": "Neurogenic differentiation factor 2",
"gene_name": "NEUROD2",
"organism": "Human",
"refseq_name": "neurogenic differentiation factor 2",
"refseq_ac": [
{
"id": "NP_006151",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006151",
"type": "external"
}
],
"gene_names_uniprotkb": "NEUROD2; BHLHA1; NDRF",
"gene_names_refseq": "DEE72; EIEE72; NDRF; NEUROD2; bHLHa1",
"protein_names_uniprotkb": "Neurogenic differentiation factor 2; Class A basic helix-loop-helix protein 1; NDRF; NeuroD-related factor; NeuroD2; bHLHa1",
"protein_names_refseq": "class A basic helix-loop-helix protein 1; neuroD-related factor; neurogenic basic-helix-loop-helix protein; neurogenic differentiation 2; neurogenic differentiation factor 2",
"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 72 (Disease Ontology:DOID:0112208)",
"pathway": " (hsa:4761)",
"pathway_count": 1,
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"publication_id_list": "10209266;29226333;30323019;33438828;33592498;34188164;37955006;8816493",
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"function": "Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons. Erratum:[Mol Psychiatry. 2021 Dec;26(12):7852. doi: 10.1038/s41380-021-01234-7. PMID: 34282265], [RefSeq, PubMed]; Expansion of NEUROD2 phenotypes to include developmental delay without seizures., [RefSeq, PubMed]; NEUROD2 function is dispensable for human pancreatic beta cell specification. Publication Status: Online-Only, [RefSeq, PubMed]; NEUROD2 variants as a cause of early infantile epileptic encephalopathy., [RefSeq, PubMed]; Study identifies a novel role of NeuroD2 as a tumor suppressor and prognostic biomarker in GBM the levels of which are tightly regulated by p53 and miR-210., [RefSeq, PubMed]; This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity)., [UniProtKB]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0070888 E-box binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0045666 positive regulation of neuron differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II",
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},
{
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{
"id": "NBPF8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q3BBV2",
"type": "external"
}
],
"mass": 108503.0,
"length": 942,
"protein_name": "NBPF family member NBPF8",
"gene_name": "NBPF8",
"organism": "Human",
"refseq_name": "NBPF family member NBPF8",
"refseq_ac": [
{
"id": "NP_001032590",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032590",
"type": "external"
}
],
"gene_names_uniprotkb": "NBPF8; NBPF8P",
"gene_names_refseq": "NBPF8P; NBPF8",
"protein_names_uniprotkb": "NBPF family member NBPF8; Neuroblastoma breakpoint family member 8",
"protein_names_refseq": "NBPF family member NBPF8; neuroblastoma breakpoint family, member 8, pseudogene; putative neuroblastoma breakpoint family member 8",
"tax_id": 9606,
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"function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]., [RefSeq]",
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},
{
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{
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}
],
"mass": 11082.0,
"length": 102,
"protein_name": "Noncompact myelin-associated protein",
"gene_name": "NCMAP",
"organism": "Human",
"refseq_name": "noncompact myelin-associated protein",
"refseq_ac": [
{
"id": "NP_001010980",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010980",
"type": "external"
}
],
"gene_names_uniprotkb": "NCMAP; C1orf130",
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"protein_names_uniprotkb": "Noncompact myelin-associated protein; MP11; Myelin protein of 11 kDa",
"protein_names_refseq": "myelin protein of 11 kDa; noncompact myelin-associated protein",
"tax_id": 9606,
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"function": "Plays a role in myelin formation., [UniProtKB]; This study identified an evolutionarily conserved novel component of myelin called Mp11. The Mp11 genomic locus contains multiple conserved Egr binding sites, and Mp11 induction is regulated by the expression of Egr2 and expression in peripheral nerve., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0019911 structural constituent of myelin sheath",
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"id": "NDUF5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5TEU4",
"type": "external"
}
],
"mass": 38918.0,
"length": 345,
"protein_name": "Arginine-hydroxylase NDUFAF5, mitochondrial",
"gene_name": "NDUFAF5",
"organism": "Human",
"refseq_name": "arginine-hydroxylase NDUFAF5, mitochondrial isoform 2",
"refseq_ac": [
{
"id": "NP_001034464",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034464",
"type": "external"
}
],
"gene_names_uniprotkb": "NDUFAF5; C20orf7",
"gene_names_refseq": "C20orf7; MC1DN16; NDUFAF5; bA526K24.2; dJ842G6.1",
"protein_names_uniprotkb": "Arginine-hydroxylase NDUFAF5, mitochondrial; 1.-.-.-; 2.1.1.-; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; Putative methyltransferase NDUFAF5",
"protein_names_refseq": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; arginine-hydroxylase NDUFAF5, mitochondrial isoform 2; arginine-hydroxylase NDUFAF5, mitochondrial; probable methyltransferase C20orf7, mitochondrial; putative methyltransferase NDUFAF5",
"tax_id": 9606,
"disease": "nuclear type mitochondrial complex I deficiency 16 (Disease Ontology:DOID:0112096)",
"pathway": " (hsa:79133); (R-HSA-6799198)",
"pathway_count": 2,
"publication_count": 36,
"publication_id_list": "11220739;17936786;18940309;19542079;19752196;20406883;20552642;20858599;21607760;21924235;23553477;24191001;25678554;27226634;27499296;27626371;27846572;31666358;31844290;31866046;32320651;33298915;33592498;33879611;33882309;33912179;34171305;34357683;35333655;35614220;36241641;36421786;37718619;37752895;38199007;9571201",
"class_list": "",
"function": "A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations., [RefSeq, PubMed]; Analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7, [RefSeq, PubMed]; Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). May also have methyltransferase activity (Probable)., [UniProtKB, PubMed, PubMed]; C20orf7 is crucial in the assembly of complex I and mutations in C20orf7 cause mitochondrial disease, [RefSeq, PubMed]; However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 subunit of human complex I, [RefSeq, PubMed]; Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5., [RefSeq, PubMed]; The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype., [RefSeq, PubMed]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2",
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{
"id": "2.1.1.-",
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{
"id": "1.-.-.-",
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{
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{
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{
"id": "1.3.8.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8",
"type": "external"
}
],
"go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0099617 matrix side of mitochondrial inner membrane",
"go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0032259 methylation",
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},
{
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{
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],
"mass": 40521.0,
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"protein_name": "Probable N-acetyltransferase 16",
"gene_name": "NAT16",
"organism": "Human",
"refseq_name": "probable N-acetyltransferase 16",
"refseq_ac": [
{
"id": "NP_940973",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_940973",
"type": "external"
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],
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"protein_names_uniprotkb": "Probable N-acetyltransferase 16; 2.3.1.-",
"protein_names_refseq": "N-acetyltransferase 16 (GCN5-related, putative); probable N-acetyltransferase 16; putative N-acetyltransferase 16; putative N-acetyltransferase C7orf52",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:375607)",
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"publication_count": 5,
"publication_id_list": "11237011;24121108;27600516;28218747;35051231",
"class_list": "",
"function": "Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown., [UniProtKB, PubMed]",
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},
{
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"protein_name": "Putative uncharacterized protein NEXN-AS1",
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},
{
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{
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],
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"length": 270,
"protein_name": "NFAT activation molecule 1",
"gene_name": "NFAM1",
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"refseq_name": "NFAT activation molecule 1 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001305252",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305252",
"type": "external"
}
],
"gene_names_uniprotkb": "NFAM1; CNAIP",
"gene_names_refseq": "CNAIP; NFAM1",
"protein_names_uniprotkb": "NFAT activation molecule 1; Calcineurin/NFAT-activating ITAM-containing protein; NFAT-activating protein with ITAM motif 1",
"protein_names_refseq": "NFAT activation molecule 1 isoform 2 precursor; NFAT activation molecule 1; calcineurin/NFAT-activating ITAM-containing protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:150372); (R-HSA-6798695)",
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"publication_count": 28,
"publication_id_list": "10.1101/2023.09.13.557529;12615919;15143214;17079331;23650620;24715725;26992070;28218747;28832583;28904123;29437277;29557506;29786170;30315122;30410026;31154438;31844290;31848261;32157095;32711213;32983136;33912179;35051231;35095847;35580925;35615580;37938771;8692836",
"class_list": "",
"function": "CNAIP is a ITAM-containing protein that activates the calcineurin/NFAT-signaling pathway and the downstream cytokine gene promoters, [RefSeq, PubMed]; Extracellular Vesicle-Derived circITGB1 Regulates Dendritic Cell Maturation and Cardiac Inflammation via miR-342-3p/NFAM1. Publication Status: Online-Only, [RefSeq, PubMed]; May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking., [UniProtKB, PubMed, PubMed]; NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes. Publication Status: Online-Only, [RefSeq, PubMed]; NFAT activating protein with ITAM motif 1 (NFAM1) is upregulated on circulating monocytes in coronary artery disease and potentially correlated with monocyte chemotaxis., [RefSeq, PubMed]; Our results demonstrate NFAT expression and activation in native human vessels and point out A-285222 as a powerful pharmacological blocker of NFAT signaling in the vasculature., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045121 membrane raft;GO:0035577 azurophil granule membrane",
"go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0001819 positive regulation of cytokine production",
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},
{
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{
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],
"mass": 48379.0,
"length": 434,
"protein_name": "N-acylneuraminate cytidylyltransferase",
"gene_name": "CMAS",
"organism": "Human",
"refseq_name": "N-acylneuraminate cytidylyltransferase",
"refseq_ac": [
{
"id": "NP_061156",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061156",
"type": "external"
}
],
"gene_names_uniprotkb": "CMAS",
"gene_names_refseq": "CMAS; CSS",
"protein_names_uniprotkb": "N-acylneuraminate cytidylyltransferase; 2.7.7.43; CMP-N-acetylneuraminic acid synthase; CMP-NeuNAc synthase",
"protein_names_refseq": "CMP-N-acetylneuraminic acid synthase; CMP-N-acetylneuraminic acid synthetase; CMP-Neu5Ac synthetase; CMP-NeuNAc synthase; CMP-NeuNAc synthetase; CMP-sialic acid synthetase; N-acylneuraminate cytidylyltransferase; cytidine 5'-monophosphate N-acetylneuraminic acid synthetase",
"tax_id": 9606,
"disease": "focal segmental glomerulosclerosis (Disease Ontology:DOID:1312)",
"pathway": " (hsa:55907); (R-HSA-4085001)",
"pathway_count": 2,
"publication_count": 108,
"publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15501818;15576474;16147865;16237198;17123352;1756715;18632803;19797320;21081508;21872626;22692205;23481700;24714562;25576301;25645385;26154972;26375851;26728094;27357083;27543614;27600516;27862975;28228285;28832583;28834231;28855257;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30524438;30833945;31154438;31222486;3136930;31495922;31530632;31844290;31848261;31937595;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34725712;35051231;35580925;36010968;36215666;36284347;37938771;38665916;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427",
"class_list": "glycogene",
"function": "A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family., [RefSeq, PubMed]; Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN)., [UniProtKB]; FXR1P interacts with CMAS, and that FXR1P may enhance the activation of sialic acid via interaction with CMAS, and increase GM1 levels to affect the development of the nervous system, thus providing evidence for further research into the pathogenesis of FXS., [RefSeq, PubMed]; This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.43",
"type": "external"
}
],
"go_molecular_function": "GO:0008781 N-acylneuraminate cytidylyltransferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane",
"go_biological_process": "GO:0006054 N-acetylneuraminate metabolic process;GO:0006055 CMP-N-acetylneuraminate biosynthetic process",
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{
"id": "NEB2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96SB3",
"type": "external"
}
],
"mass": 89334.0,
"length": 817,
"protein_name": "Neurabin-2",
"gene_name": "PPP1R9B",
"organism": "Human",
"refseq_name": "neurabin-2",
"refseq_ac": [
{
"id": "NP_115984",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115984",
"type": "external"
}
],
"gene_names_uniprotkb": "PPP1R9B; PPP1R6",
"gene_names_refseq": "PPP1R6; PPP1R9B; PPP1R9; SPINO; Spn",
"protein_names_uniprotkb": "Neurabin-2; Neurabin-II; Protein phosphatase 1 regulatory subunit 9B; Spinophilin",
"protein_names_refseq": "neurabin-2; neurabin-II; protein phosphatase 1, regulatory (inhibitor) subunit 9B; protein phosphatase 1, regulatory subunit 9B, spinophilin",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:84687)",
"pathway_count": 1,
"publication_count": 54,
"publication_id_list": "11278317;12417592;15728359;16497976;18452278;18669648;19007248;19151759;19413330;19690332;20058876;20068231;21406692;23186163;24114805;24275569;28510447;28954816;29493099;29557506;30429286;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33537097;33537174;33592498;33717175;33912179;33936100;33968037;34185709;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347",
"class_list": "",
"function": "Homo-oligomerization of neurabin is required for stabilizing RGS4 on the plasma membrane to attenuate A1R signaling, [RefSeq, PubMed]; Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Plays a role in regulation of G protein-coupled receptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex for dopaminergic neurotransmission through D2 receptors by linking receptors downstream signaling molecules and the actin cytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation of ADRA1B signaling. May confer to Rac signaling specificity by binding to both, RacGEFs and Rac effector proteins. Probably regulates p70 S6 kinase activity by forming a complex with TIAM1 (By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration., [UniProtKB, PubMed]; This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]., [RefSeq]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_o_glycosites": 1,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 20,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 4,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "D3DTX6;Q8TCR9",
"ec_number_list": [],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0051015 actin filament binding;GO:0044325 transmembrane transporter binding;GO:0019900 kinase binding;GO:0008157 protein phosphatase 1 binding",
"go_cellular_component": "GO:1990780 cytoplasmic side of dendritic spine plasma membrane;GO:0098978 glutamatergic synapse;GO:0000164 protein phosphatase type 1 complex;GO:0098890 extrinsic component of postsynaptic membrane;GO:0005654 nucleoplasm",
"go_biological_process": "GO:0003006 developmental process involved in reproduction;GO:1903119 protein localization to actin cytoskeleton;GO:1904372 positive regulation of protein localization to actin cortical patch;GO:1904386 response to L-phenylalanine derivative;GO:0060179 male mating behavior",
"synthesized_glycan_count": 0,
"hit_score": 5.7,
"record_id": "Q96SB3-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H3R1-1",
"uniprot_id": [
{
"id": "NDST4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H3R1",
"type": "external"
}
],
"mass": 100716.0,
"length": 872,
"protein_name": "N-heparan sulfate sulfotransferase 4",
"gene_name": "NDST4",
"organism": "Human",
"refseq_name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4",
"refseq_ac": [
{
"id": "NP_072091",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_072091",
"type": "external"
}
],
"gene_names_uniprotkb": "NDST4; HSST4",
"gene_names_refseq": "N-HSST 4; N-HSST; NDST-4; NDST4; NHSST4",
"protein_names_uniprotkb": "N-heparan sulfate sulfotransferase 4; 2.8.2.8; NDST-4",
"protein_names_refseq": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4; N-heparan sulfate sulfotransferase 4; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4; glucosaminyl N-deacetylase/N-sulfotransferase 4",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); azoospermia (Disease Ontology:DOID:14227); germ cell cancer (Disease Ontology:DOID:2994)",
"pathway": " (hsa:64579); (R-HSA-2022928)",
"pathway_count": 2,
"publication_count": 37,
"publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11274177;11279150;11390981;12138164;12492399;15082721;15607426;16343444;20332099;20554947;21700882;22843503;23825612;23953852;28132690;28148688;28228285;29158133;29557506;30471091;33159882;35051231;35676258;37217939;7601448;9346953;9463333;9535912;9915799;9988767",
"class_list": "glycogene",
"function": "Essential enzyme that catalyzes the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (PubMed:29158133). Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:29158133). Has no deacetylase activity but high sulfotransferase activity (PubMed:29158133). Plays a crucial role in the differentiation of colonic progenitor cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; Highly-purified recombinant NDST-4 and a selective library of structurally-defined oligosaccharides were employed to determine the substrate specificity of rNDST-4. Full-length rNDST-4 lacks obvious N-deacetylase activity, and displays only N-sulfotransferase activity. NDST-4 did not show directional N-sulfotransferase activity while the N-deacetylase domain was inactive., [RefSeq, PubMed]; NDST4 gene is a novel candidate tumor suppressor gene in human cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; Our results suggest that genetic variants in TYW3/CRYZ and NDST4 loci may be involved in the regulation of circulating resistin levels, [RefSeq, PubMed]; The rs12108602 near NDST4 showed significant associations with MaxDrinks., [RefSeq, PubMed]",
"predicted_glycosites": 6,
"predicted_n_glycosites": 5,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
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"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
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"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_reported_c_glycosites": 0,
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"total_n_glycosites": 0,
"total_o_glycosites": 1,
"total_c_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 1277,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 4,
"glyco_site_count": 6,
"binding_glycan_count": 0,
"secondary_ac_list": "Q2KHM8",
"ec_number_list": [
{
"id": "3.-.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.-.-.-",
"type": "external"
},
{
"id": "2.8.2.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.8",
"type": "external"
},
{
"id": "3.5.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-",
"type": "external"
},
{
"id": "2.8.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-",
"type": "external"
}
],
"go_molecular_function": "GO:0019213 deacetylase activity;GO:0015016 heparan sulfate N-sulfotransferase activity;GO:0050119 N-acetylglucosamine deacetylase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus",
"go_biological_process": "GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 4.0,
"record_id": "Q9H3R1-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.001.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9HC58-1",
"uniprot_id": [
{
"id": "NCKX3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HC58",
"type": "external"
}
],
"mass": 71992.0,
"length": 644,
"protein_name": "Sodium/potassium/calcium exchanger 3",
"gene_name": "SLC24A3",
"organism": "Human",
"refseq_name": "sodium/potassium/calcium exchanger 3 precursor",
"refseq_ac": [
{
"id": "NP_065740",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC24A3; NCKX3",
"gene_names_refseq": "NCKX3; SLC24A3",
"protein_names_uniprotkb": "Sodium/potassium/calcium exchanger 3; Na(+)/K(+)/Ca(2+)-exchange protein 3; Solute carrier family 24 member 3",
"protein_names_refseq": "Na(+)/K(+)/Ca(2+)-exchange protein 3; sodium calcium exchanger; sodium/potassium/calcium exchanger 3 precursor; sodium/potassium/calcium exchanger 3; solute carrier family 24 (sodium/potassium/calcium exchanger), member 3",
"tax_id": 9606,
"disease": "epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:57419); (R-HSA-425561)",
"pathway_count": 2,
"publication_count": 23,
"publication_id_list": "10662833;11294880;12379639;14625281;15060069;16357253;18166528;21321244;25505266;26154972;26631410;27862975;28832583;29557506;29632711;31154438;31848261;32938616;34357683;35051231;37938771;38253038;9856482",
"class_list": "",
"function": "Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)., [UniProtKB, PubMed, PubMed]; NCKX3 is abundantly expressed within the human endometrium at the transcriptional and translational levels, and its level is regulated by steroid hormones (particularly estradiol) during the human menstrual cycle., [RefSeq, PubMed]; Plasma membrane ion transporter.Displayed K(+)-dependent Na(+)/Ca(2+) exchanger activity when assayed in heterologous expression systems, using digital imaging of fura-2 fluorescence, electrophysiology, or radioactive (45)Ca(2+) uptake. Erratum:[J Biol Chem. 2006 Mar 31;281(13):8996], [RefSeq, PubMed]; Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]., [RefSeq]",
"predicted_glycosites": 2,
"predicted_n_glycosites": 2,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 2,
"reported_c_glycosites_with_glycan": 0,
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"total_reported_n_glycosites": 0,
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"total_n_glycosites": 0,
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"reported_phosphosites": 1,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 19,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 1,
"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "B1AKV7;Q9BQJ9;Q9BQL7;Q9BQY3;Q9H519",
"ec_number_list": [],
"go_molecular_function": "GO:0005262 calcium channel activity;GO:0015293 symporter activity;GO:0008273 calcium, potassium:sodium antiporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0071944 cell periphery",
"go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0006874 intracellular calcium ion homeostasis;GO:0035725 sodium ion transmembrane transport;GO:0070588 calcium ion transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 2.7,
"record_id": "Q9HC58-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NPE2-2",
"uniprot_id": [
{
"id": "NGRN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NPE2",
"type": "external"
}
],
"mass": 32408.0,
"length": 291,
"protein_name": "Neugrin",
"gene_name": "NGRN",
"organism": "Human",
"refseq_name": "neugrin precursor",
"refseq_ac": [
{
"id": "NP_001028260",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028260",
"type": "external"
}
],
"gene_names_uniprotkb": "NGRN; FI58G; HT020",
"gene_names_refseq": "DSC92; NGRN",
"protein_names_uniprotkb": "Neugrin; Mesenchymal stem cell protein DSC92; Neurite outgrowth-associated protein; Spinal cord-derived protein FI58G",
"protein_names_refseq": "mesenchymal stem cell protein DSC92; neugrin precursor; neurite outgrowth associated protein; spinal cord-derived protein FI58G",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51335); (R-HSA-6793080); (R-HSA-9937008)",
"pathway_count": 3,
"publication_count": 61,
"publication_id_list": "10931946;11118320;11809803;12496758;15110318;15769737;18083837;18669648;19356719;19417006;20068231;21292163;21531335;22341444;22949673;23022348;23303773;23481700;23804760;24036117;24366607;25008111;25009282;25074936;25418920;25576301;25892735;26154972;26464487;26992070;27667664;27974379;28082677;28228285;28832583;28904123;29107537;29242379;29557506;29769354;30429286;31217245;31364055;31477916;31844290;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34171305;34357683;34509645;34561969;36284347",
"class_list": "",
"function": "Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system., [UniProtKB, PubMed]",
"predicted_glycosites": 3,
"predicted_n_glycosites": 3,
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"reported_n_glycosites_with_glycan": 0,
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"reported_phosphosites": 1,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 11,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "B2R6M8;Q4V9L7;Q9HBL4",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix",
"go_biological_process": "GO:0030182 neuron differentiation;GO:0070131 positive regulation of mitochondrial translation;GO:0061668 mitochondrial ribosome assembly",
"synthesized_glycan_count": 0,
"hit_score": 6.2,
"record_id": "Q9NPE2-2",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UHE5-1",
"uniprot_id": [
{
"id": "NAT8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UHE5",
"type": "external"
}
],
"mass": 25619.0,
"length": 227,
"protein_name": "N-acetyltransferase 8",
"gene_name": "NAT8",
"organism": "Human",
"refseq_name": "N-acetyltransferase 8",
"refseq_ac": [
{
"id": "NP_003951",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003951",
"type": "external"
}
],
"gene_names_uniprotkb": "NAT8; CML1; GLA; TSC501",
"gene_names_refseq": "ATase2; CCNAT; CML1; GLA; Hcml1; NAT8; TSC501; TSC510",
"protein_names_uniprotkb": "N-acetyltransferase 8; 2.3.1.-; 2.3.1.80; ATase2; Acetyltransferase 2; CCNAT; Camello-like protein 1; Cysteinyl-conjugate N-acetyltransferase; Protein-lysine N6-acetyltransferase 8",
"protein_names_refseq": "N-acetyltransferase 8 (GCN5-related, putative); N-acetyltransferase 8 (camello like); N-acetyltransferase 8; acetyltransferase 2; camello-like protein 1; cysteinyl-conjugate N-acetyltransferase; kidney- and liver-specific gene product; probable N-acetyltransferase 8; protein-lysine N6-acetyltransferase 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9027); (R-HSA-977225)",
"pathway_count": 2,
"publication_count": 80,
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"class_list": "",
"function": "ATase1 and ATase2 are endoplasmic reticulum-based acetyltransferases that form homo- and heterodimers and associate with members of the oligosaccharyltransferase complex, [RefSeq, PubMed]; Endoplasmic reticulum (ER)-membrane-bound lysine N-acetyltransferase catalyzing the N6-acetylation of lysine residues in the lumen of the ER in various proteins, including PROM1 and BACE1, using acetyl-CoA as acetyl donor (PubMed:19011241, PubMed:22267734, PubMed:24556617, PubMed:31945187). Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241). N(6)-lysine acetylation in the ER maintains protein homeostasis and regulates reticulophagy (By similarity). Alternatively, acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Findings indicate that the NAA pathway has a prominent role in promoting tumor growth and represents a valuable target for anticancer therapy. Publication Status: Online-Only, [RefSeq, PubMed]; N-Acetyltransferase 8 Promotes Viral Replication by Increasing the Stability of Enterovirus 71 Nonstructural Proteins. Erratum:[J Virol. 2023 Mar 30;97(3):e0025723. doi: 10.1128/jvi.00257-23. PMID: 36916908], [RefSeq, PubMed]; NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD., [RefSeq, PubMed]; This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]., [RefSeq]; We raise the hypothesis that the alternative SNP alleles of the NAT8 upstream region may have differential effect on gene expression GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment",
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{
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{
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{
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],
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{
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],
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"protein_names_refseq": "Na(+)/K(+)/Ca(2+)-exchange protein 2; Na/Ca-K exchanger 2; retinal cone Na-Ca+K exchanger; sodium/potassium/calcium exchanger 2 isoform 2; solute carrier family 24 (sodium/potassium/calcium exchanger), member 2",
"tax_id": 9606,
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"pathway": " (hsa:25769); (R-HSA-425561)",
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"function": "A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations., [RefSeq, PubMed]; A new mutation in SLC24A2 gene was identified to decrease the stability of SLC24A2, [RefSeq, PubMed]; Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:10662833, PubMed:26631410). Required for learming and memory by regulating neuronal Ca(2+), which is essential for the development of synaptic plasticity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Glu(188) and Asp(548) are the central residues of a single cation binding pocket that can accommodate both K(+) and Ca(2+). Furthermore, a single set of residues lines a transport pathway for both K(+) and Ca(2+)., [RefSeq, PubMed]; Multiomics Integrated Analysis Identifies SLC24A2 as a Potential Link between Type 2 Diabetes and Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Residues in the two regions with the highest degree of homology between the different NCKX isoforms (alpha-1 and alpha-2 repeats) were examined to determine which residues are important for Ca(2+) coordination., [RefSeq, PubMed]; Results appear to rule out a critical importance of an intramolecular disulfide linkage in NCKX2 protein synthesis and folding as had been reported before, [RefSeq, PubMed]; The oligomeric state of this protein is studied., [RefSeq, PubMed]; This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; This is the first systematic NCKX mutagenesis study in which 96 residues are mutated in the human cone NCKX2 cDNA, and functional consequences of these mutations are measured., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0001917 photoreceptor inner segment;GO:0098793 presynapse",
"go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:0060292 long-term synaptic depression;GO:0035725 sodium ion transmembrane transport;GO:0070588 calcium ion transmembrane transport",
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},
{
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],
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"protein_name": "Olfactory receptor 10R2",
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{
"id": "NP_001004472",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004472",
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}
],
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"protein_names_refseq": "olfactory receptor 10R2 isoform 1; olfactory receptor 10R2; olfactory receptor OR1-8",
"tax_id": 9606,
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"function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding",
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{
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"protein_name": "Olfactory receptor 11G2",
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"function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity",
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},
{
"uniprot_canonical_ac": "O43847-1",
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{
"id": "NRDC_HUMAN",
"url": "https://www.uniprot.org/uniprot/O43847",
"type": "external"
}
],
"mass": 131701.0,
"length": 1151,
"protein_name": "Nardilysin",
"gene_name": "NRDC",
"organism": "Human",
"refseq_name": "nardilysin isoform b precursor",
"refseq_ac": [
{
"id": "NP_001095132",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132",
"type": "external"
}
],
"gene_names_uniprotkb": "NRDC; NRD1",
"gene_names_refseq": "NRD1; NRDC; hNRD1; hNRD2",
"protein_names_uniprotkb": "Nardilysin; 3.4.24.61; N-arginine dibasic convertase; NRD convertase; NRD-C; Nardilysin convertase",
"protein_names_refseq": "NRD convertase; nardilysin (N-arginine dibasic convertase); nardilysin isoform b precursor",
"tax_id": 9606,
"disease": "neurodegenerative disease (Disease Ontology:DOID:1289)",
"pathway": " (hsa:4898)",
"pathway_count": 1,
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"publication_id_list": "11042131;11237011;11432822;11478915;18669648;18991276;19690332;20068231;21406692;23186163;23481700;25418920;25576301;25645385;25892735;26375851;26728094;26758079;26929215;27600516;27862975;27920218;28017472;28218747;28228285;28514659;28649982;28747015;28832583;28834231;28855257;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;30524438;30536341;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35561310;35580925;35815687;36010968;36241641;36284347;36581221;37938771;38253038;38602237;38665916;40914422;9479496;9581555",
"class_list": "",
"function": "Altered Levels of Negative Costimulatory Molecule V-Set Domain-Containing T-Cell Activation Inhibitor-1 (VTCN1) and Metalloprotease Nardilysin (NRD1) are Associated with Generalized Active Vitiligo., [RefSeq, PubMed]; CircNRD1 elevates THAP domain containing 11 through sequestering microRNA-421 to inhibit gastric cancer growth and tumorigenesis., [RefSeq, PubMed]; Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs. Is a critical activator of BACE1- and ADAM17-mediated pro-neuregulin ectodomain shedding, involved in the positive regulation of axonal maturation and myelination. Required for proper functioning of 2-oxoglutarate dehydrogenase (OGDH) (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Increased serum nardilysin at admission is associated with a higher risk of all-cause mortality for ST-elevation myocardial infarction patients., [RefSeq, PubMed]; N-arginine dibasic convertase is a specific receptor for heparin-binding EGF-like growth factor (HB-EGF) that modulates HB-EGF-induced cell migration., [RefSeq, PubMed]; NRDC expression was reduced in infarcted regions in autopsy samples from acute myocardial ischemia patients., [RefSeq, PubMed]; The acidic stretch of nardilysin, expressed as a fusion protein with glutathione S-transferase and compared to the native enzyme with respect to spermine binding, functions as an autonomous domain., [RefSeq, PubMed]; This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [RefSeq]",
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"secondary_ac_list": "A6NI41;O15241;O15242;Q5VUL0;Q96HB2;Q9NU57",
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"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0061133 endopeptidase activator activity;GO:0048408 epidermal growth factor binding",
"go_cellular_component": "GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0009986 cell surface;GO:0030425 dendrite;GO:0005739 mitochondrion",
"go_biological_process": "GO:0006508 proteolysis;GO:0051044 positive regulation of membrane protein ectodomain proteolysis;GO:0032760 positive regulation of tumor necrosis factor production;GO:0050772 positive regulation of axonogenesis;GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway",
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},
{
"uniprot_canonical_ac": "Q12908-1",
"uniprot_id": [
{
"id": "NTCP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q12908",
"type": "external"
}
],
"mass": 37714.0,
"length": 348,
"protein_name": "Ileal sodium/bile acid cotransporter",
"gene_name": "SLC10A2",
"organism": "Human",
"refseq_name": "ileal sodium/bile acid cotransporter",
"refseq_ac": [
{
"id": "NP_000443",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000443",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC10A2; ASBT; ISBT; NTCP2",
"gene_names_refseq": "ASBT; IBAT; ISBT; NTCP2; PBAM1; PBAM; SLC10A2",
"protein_names_uniprotkb": "Ileal sodium/bile acid cotransporter; ASBT; Apical sodium-dependent bile acid transporter; IBAT; ISBT; Ileal Na(+)/bile acid cotransporter; Ileal sodium-dependent bile acid transporter; Na(+)-dependent ileal bile acid transporter; Sodium/taurocholate cotransporting polypeptide, ileal; Solute carrier family 10 member 2",
"protein_names_refseq": "Na(+)-dependent ileal bile acid transporter; Na+/taurocholate cotransporting polypeptide 2; ileal apical sodium-dependent bile acid transporter; ileal sodium-dependent bile acid transporter; ileal sodium/bile acid cotransporter; sodium/taurocholate cotransporting polypeptide, ileal; solute carrier family 10 (sodium/bile acid cotransporter family), member 2; solute carrier family 10 (sodium/bile acid cotransporter), member 2",
"tax_id": 9606,
"disease": "intestinal disease (Disease Ontology:DOID:5295); bile acid malabsorption, primary, 1 (MONDO:MONDO:0013214)",
"pathway": " (hsa:6555); (R-HSA-159418)",
"pathway_count": 2,
"publication_count": 49,
"publication_id_list": "10334992;10334993;10358072;10601278;10884298;10987286;11159893;11387316;11589382;11742882;11870371;11980911;12220224;12364586;12393883;12404239;12404240;12486725;12663868;12704183;12815072;13416382;14699511;15350125;16317684;16541101;16908160;17650074;2037576;23018617;23337244;25892735;29769354;31530632;33222321;33278408;33392160;34638773;36410025;36581221;7077161;7557095;7588781;7592981;8034703;8132774;9109432;9458785;9856990",
"class_list": "",
"function": "A Novel Fluorescence-Based Method to Evaluate Ileal Apical Sodium-Dependent Bile Acid Transporter ASBT., [RefSeq, PubMed]; Loss of apical sodium bile acid transporter alters bile acid circulation and reduces biliary damage in cholangitis., [RefSeq, PubMed]; Placental Expression of Bile Acid Transporters in Intrahepatic Cholestasis of Pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine (PubMed:7592981, PubMed:9458785, PubMed:9856990). Transports various bile acids, unconjugated or conjugated, such as cholate and taurocholate (PubMed:7592981, PubMed:9458785, PubMed:9856990). Also responsible for bile acid transport in the renal proximal tubules, a salvage mechanism that helps conserve bile acids (Probable). Works collaboratively with the Na(+)-taurocholate cotransporting polypeptide (NTCP), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]., [RefSeq]",
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"secondary_ac_list": "A1L4F4;Q13839",
"ec_number_list": [],
"go_molecular_function": "GO:0008508 bile acid:sodium symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0005902 microvillus",
"go_biological_process": "GO:0015721 bile acid and bile salt transport",
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},
{
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"uniprot_id": [
{
"id": "NRARP_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z6K4",
"type": "external"
}
],
"mass": 12492.0,
"length": 114,
"protein_name": "Notch-regulated ankyrin repeat-containing protein",
"gene_name": "NRARP",
"organism": "Human",
"refseq_name": "notch-regulated ankyrin repeat-containing protein",
"refseq_ac": [
{
"id": "NP_001004354",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004354",
"type": "external"
}
],
"gene_names_uniprotkb": "NRARP",
"gene_names_refseq": "NRARP",
"protein_names_uniprotkb": "Notch-regulated ankyrin repeat-containing protein",
"protein_names_refseq": "notch-regulated ankyrin repeat-containing protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:441478)",
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"publication_count": 21,
"publication_id_list": "19154719;24778018;25985737;26992070;27364790;28207739;28834231;28904123;29242379;29351928;29393594;29557506;30429286;31154438;31586130;31690634;31844290;31848261;32161166;34171305;36284347",
"class_list": "",
"function": "Downregulation of NRARP expression exerts significant antitumor activities against cell growth and invasion of thyroid cancer, that suggests a potential role of NRARP in thyroid cancer targeted therapy., [RefSeq, PubMed]; Downstream effector of Notch signaling. Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737). Involved in angiogenesis acting downstream of Notch at branch points to regulate vascular density. Proposed to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and to stablilize new endothelial connections during angiogenesis (PubMed:19154719). During somitogenesis involved in maintenance of proper somite segmentation and proper numbers of somites and vertebrae. Required for proper anterior-posterior somite patterning. Proposed to function in a negative feedback loop to destabilize Notch 1 intracellular domain (NICD) and down-regulate the Notch signal, preventing expansion of the Notch signal into the anterior somite domain (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Extension of the Notch intracellular domain ankyrin repeat stack by NRARP promotes feedback inhibition of Notch signaling. Publication Status: Online-Only, [RefSeq, PubMed]; High NRARP expression is associated with papillary thyroid carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; NRARP displays either pro- or anti-tumoral roles in T-cell acute lymphoblastic leukemia depending on Notch and Wnt signaling., [RefSeq, PubMed]; NRARP may stimulate cell proliferation in human breast cancer., [RefSeq, PubMed]",
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"secondary_ac_list": "B8A4K5",
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"go_biological_process": "GO:0007219 Notch signaling pathway;GO:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis;GO:0001569 branching involved in blood vessel morphogenesis;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0045746 negative regulation of Notch signaling pathway",
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},
{
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{
"id": "NSUN7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NE18",
"type": "external"
}
],
"mass": 81039.0,
"length": 718,
"protein_name": "Protein NSUN7",
"gene_name": "NSUN7",
"organism": "Human",
"refseq_name": "putative methyltransferase NSUN7 isoform 2",
"refseq_ac": [
{
"id": "NP_001317577",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317577",
"type": "external"
}
],
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"gene_names_refseq": "NSUN7",
"protein_names_uniprotkb": "Protein NSUN7; NOL1/NOP2/Sun domain family member 7",
"protein_names_refseq": "NOL1/NOP2/Sun domain family member 7; NOP2/Sun domain family, member 7; putative methyltransferase NSUN7 isoform 2; putative methyltransferase NSUN7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79730)",
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"publication_id_list": "24384068;25576301;25702163;26345859;28904123;29242379;29557506;29786170;30379171;33592498;33968037;34087483;35051231;36010968;36284347;37173708;39894887",
"class_list": "",
"function": "Epigenetic inactivation of the 5-methylcytosine RNA methyltransferase NSUN7 is associated with clinical outcome and therapeutic vulnerability in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Mutant protein structures of Nsun7 indicated that the amino acid serine was converted to alanine, the structure of the helix, coil and strand was changed, and the protein folding and ligand binding sites were changed in samples from asthenospermic men with a transversion mutation in exon 7, indicating impairment of protein function. Because Nsun7 plays a role in sperm motility, mutation in exon 7 may lead to infertility., [RefSeq, PubMed]; Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men., [RefSeq, PubMed]; Our findings revealed that genetic polymorphisms in exon7 of the NSUN7 gene are not associated with asthenospermia in Chinese Han men. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential for sperm flagellum assembly., [UniProtKB, UniProtKB]",
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"secondary_ac_list": "C9JI19;Q8N9K8;Q9H815",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0008168 methyltransferase activity",
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"go_biological_process": "GO:0032259 methylation",
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},
{
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{
"id": "O10H5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NGA6",
"type": "external"
}
],
"mass": 34900.0,
"length": 315,
"protein_name": "Olfactory receptor 10H5",
"gene_name": "OR10H5",
"organism": "Human",
"refseq_name": "olfactory receptor 10H5",
"refseq_ac": [
{
"id": "NP_001004466",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004466",
"type": "external"
}
],
"gene_names_uniprotkb": "OR10H5",
"gene_names_refseq": "OR10H5; OR19-25; OR19-26",
"protein_names_uniprotkb": "Olfactory receptor 10H5; Olfactory receptor OR19-25; Olfactory receptor OR19-26",
"protein_names_refseq": "olfactory receptor 10H5; olfactory receptor OR19-25; olfactory receptor OR19-26",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:284433); (R-HSA-381753); (R-HSA-9752946)",
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{
"id": "NP_597702",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_597702",
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],
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"disease": "",
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"publication_id_list": "11588171;11735224;11880201;14684485;17855605;17997397;22833210;23271734;29557506;30590034;31202607;31444392;34151525;35051231;35580925;36898314;37248111;38598639",
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{
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"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0017146 NMDA selective glutamate receptor complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body",
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"tax_id": 9606,
"disease": "brain ischemia (Disease Ontology:DOID:2316); congestive heart failure (Disease Ontology:DOID:6000)",
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"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;16115696;18477386;19368810;23584533;25576301;27862975;29557506;29741879;30429286;30459171;31611695;31844290;32157095;32350084;32450185;32938616;32983136;35051231;35251023;35580925;36010968;37074911;9261167",
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"function": "NMBR natural variants were enriched in patients with iron overload, and associated with facilitated iron absorption, possibly related to a defect of iron-induced hepcidin release., [RefSeq, PubMed]; Receptor for neuromedin-B (PubMed:1655761). Contributes to the maintenance of basal sigh rate through signaling in the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during respiratory activity (By similarity). Contributes to the induction of sneezing following exposure to chemical irritants or allergens which causes release of NMB by nasal sensory neurons and activation of NMBR-expressing neurons in the sneeze-evoking region of the brainstem (By similarity). These in turn activate neurons of the caudal ventral respiratory group, giving rise to the sneezing response (By similarity). Contributes to induction of acute itch, possibly through its activation on dorsal root ganglion neurons by the NMB peptide (By similarity). Plays a role in the innate immune response to influenza A virus infection by enhancing interferon alpha expression and reducing expression of IL6 (PubMed:31601264). Plays a role in CSF1-induced proliferation of osteoclast precursors by contributing to the positive regulation of the expression of the CSF1 receptor CSF1R (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The rs2717 and rs6926279 within the NMBR gene were associated with schizophrenia liability., [RefSeq, PubMed]; This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]., [RefSeq]",
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"total_reported_c_glycosites": 0,
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"total_n_glycosites": 0,
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"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 2,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 25,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "E9KL38;Q5VUK8",
"ec_number_list": [],
"go_molecular_function": "GO:0008188 neuropeptide receptor activity;GO:0004946 bombesin receptor activity",
"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0007186 G protein-coupled receptor signaling pathway;GO:0032715 negative regulation of interleukin-6 production;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0090290 positive regulation of osteoclast proliferation",
"synthesized_glycan_count": 0,
"hit_score": 12.7,
"record_id": "P28336-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P29475-1",
"uniprot_id": [
{
"id": "NOS1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P29475",
"type": "external"
}
],
"mass": 160970.0,
"length": 1434,
"protein_name": "Nitric oxide synthase 1",
"gene_name": "NOS1",
"organism": "Human",
"refseq_name": "nitric oxide synthase 1 isoform 1",
"refseq_ac": [
{
"id": "NP_000611",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000611",
"type": "external"
}
],
"gene_names_uniprotkb": "NOS1",
"gene_names_refseq": "IHPS1; N-NOS; NC-NOS; NOS1; NOS; bNOS; nNOS",
"protein_names_uniprotkb": "Nitric oxide synthase 1; 1.14.13.39; Constitutive NOS; N-NOS; NC-NOS; NOS type I; Neuronal NOS; Nitric oxide synthase, brain; Peptidyl-cysteine S-nitrosylase NOS1; bNOS; nNOS",
"protein_names_refseq": "NOS type I; constitutive NOS; neuronal NOS; nitric oxide synthase 1 (neuronal); nitric oxide synthase 1 isoform 1; peptidyl-cysteine S-nitrosylase NOS1",
"tax_id": 9606,
"disease": "lissencephaly (Disease Ontology:DOID:0050453); cardiomyopathy (Disease Ontology:DOID:0050700); stroke (Disease Ontology:DOID:0051061); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); nephrotic syndrome (Disease Ontology:DOID:1184); urethral obstruction (Disease Ontology:DOID:12577); hypertrophic pyloric stenosis (Disease Ontology:DOID:12638); alcoholic cardiomyopathy (Disease Ontology:DOID:12935); retinopathy of prematurity (Disease Ontology:DOID:13025); hepatic encephalopathy (Disease Ontology:DOID:13413); Parkinson's disease (Disease Ontology:DOID:14330); major depressive disorder (Disease Ontology:DOID:1470); cystic fibrosis (Disease Ontology:DOID:1485); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); transient cerebral ischemia (Disease Ontology:DOID:224); motor neuron disease (Disease Ontology:DOID:231); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); temporal lobe epilepsy (Disease Ontology:DOID:3328); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); achalasia (Disease Ontology:DOID:9164); type 2 diabetes mellitus (Disease Ontology:DOID:9352); allergic asthma (Disease Ontology:DOID:9415); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:4842); (R-HSA-1222556); (R-HSA-392154); (R-HSA-5578775)",
"pathway_count": 4,
"publication_count": 87,
"publication_id_list": "10029572;10220561;10400690;10874031;10913253;11052978;11062458;11237855;11904675;11970843;12119109;12630910;12832055;12953268;1375933;15174025;15251453;15260953;15598648;15754088;16754674;1693919;17224452;17357072;17486119;17662945;18452278;18995841;19089323;19278978;19751721;20134026;20388710;20585660;21108950;21124855;22210847;2226863;22427649;22707725;22972900;23362265;23549614;23610579;2430951;2477373;25286850;2559024;25994790;26024233;26171233;26174015;2825632;2838329;2848506;28645727;2953725;29557506;29769354;30418433;30620550;31844290;32938616;32983136;33298915;33912179;33981976;35051231;35772285;36241641;36715280;38158677;39201459;6328127;7515942;7528745;7678401;7702581;7929371;7980580;8537108;8798450;8879752;8918259;9111048;9346285;9791007",
"class_list": "",
"function": "Caveolin and NOS in the Development of Muscular Dystrophy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; 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., [UniProtKB, PubMed]; The Role of Macula Densa Nitric Oxide Synthase 1 Beta Splice Variant in Modulating Tubuloglomerular Feedback. Publication Status: Online-Only, [RefSeq, PubMed]; The neuronal nitric oxide synthase expression increases during satellite cell-derived primary myoblasts differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 0,
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"reported_snv": 47,
"reported_interactions": 0,
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"biomarker_type": "",
"glycan_count": 1,
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"secondary_ac_list": "E9PH30;O75713",
"ec_number_list": [
{
"id": "2.7.11.11",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11",
"type": "external"
},
{
"id": "7.2.2.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10",
"type": "external"
},
{
"id": "1.14.13.39",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39",
"type": "external"
}
],
"go_molecular_function": "GO:0004517 nitric-oxide synthase activity;GO:0034617 tetrahydrobiopterin binding;GO:0046870 cadmium ion binding;GO:0005516 calmodulin binding;GO:0048306 calcium-dependent protein binding",
"go_cellular_component": "GO:0044305 calyx of Held;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol",
"go_biological_process": "GO:0032496 response to lipopolysaccharide;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001666 response to hypoxia;GO:0042311 vasodilation;GO:0045776 negative regulation of blood pressure",
"synthesized_glycan_count": 0,
"hit_score": 9.0,
"record_id": "P29475-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P49146-1",
"uniprot_id": [
{
"id": "NPY2R_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49146",
"type": "external"
}
],
"mass": 42731.0,
"length": 381,
"protein_name": "Neuropeptide Y receptor type 2",
"gene_name": "NPY2R",
"organism": "Human",
"refseq_name": "neuropeptide Y receptor type 2",
"refseq_ac": [
{
"id": "NP_000901",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000901",
"type": "external"
}
],
"gene_names_uniprotkb": "NPY2R",
"gene_names_refseq": "NPY2-R; NPY2R",
"protein_names_uniprotkb": "Neuropeptide Y receptor type 2; NPY-Y2 receptor; NPY2-R; Y2 receptor",
"protein_names_refseq": "NPY-Y2 receptor; neuropeptide Y receptor type 2",
"tax_id": 9606,
"disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); peripheral artery disease (Disease Ontology:DOID:0050830); absence epilepsy (Disease Ontology:DOID:0070309); opioid abuse (Disease Ontology:DOID:11206); morbid obesity (Disease Ontology:DOID:11981); Huntington's disease (Disease Ontology:DOID:12858); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); temporal lobe epilepsy (Disease Ontology:DOID:3328); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)",
"pathway": " (hsa:4887); (R-HSA-375276); (R-HSA-418594)",
"pathway_count": 3,
"publication_count": 116,
"publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;30531682;31852985;3202875;33531491;3366244;35051231;3525564;35507650;36525977;3856870;38882210;6274691;6281660;6373251;6589611;7057924;7524088;7559383;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8632753;8643460;8666380;8702752;873923;8823230;8975716;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594",
"class_list": "",
"function": "Inhibition of epileptiform activity by neuropeptide Y in brain tissue from drug-resistant temporal lobe epilepsy patients. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for neuropeptide Y (NPY) and peptide YY (PYY) (PubMed:7592910, PubMed:7559383, PubMed:35507650, PubMed:36525977, PubMed:38882210). Can also bind with lower affinity pancreatic polypeptide (PP/PPY) and [Leu-31, Pro-34]NPY, an analog of NPY modified at residues 31 and 34 of the mature form. NPY or PYY binding induces adenylate cyclase-inhibiting G protein-coupled receptor signaling, resulting in inhibition of cAMP production (PubMed:7592910, PubMed:7559383, PubMed:35507650, PubMed:38882210). Receptor activation by ligands also leads to an increase of intracellular Ca(2+) levels (PubMed:7559383, PubMed:7592910). Involved in the regulation of colonic antisecretory tone, and colonic contractility (By similarity). As receptor for peptide PYY(3-36) in the arcuate nucleus of the hypothalamus, it is involved in the down-regulation of appetite and food intake (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Structural basis for Y2 receptor-mediated neuropeptide Y and peptide YY signaling., [RefSeq, PubMed]; The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. No significant association was found for the NPY2R SNP rs1902491 genotype. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "Q13281;Q13457;Q4W5G7;Q6AZZ6;Q9UE67",
"ec_number_list": [],
"go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0001965 G-protein alpha-subunit binding;GO:0008188 neuropeptide receptor activity;GO:0038023 signaling receptor activity;GO:0004983 neuropeptide Y receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0097731 9+0 non-motile cilium",
"go_biological_process": "GO:1903999 negative regulation of eating behavior;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007626 locomotory behavior",
"synthesized_glycan_count": 0,
"hit_score": 11.7,
"record_id": "P49146-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000",
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},
{
"uniprot_canonical_ac": "P78316-1",
"uniprot_id": [
{
"id": "NOP14_HUMAN",
"url": "https://www.uniprot.org/uniprot/P78316",
"type": "external"
}
],
"mass": 97668.0,
"length": 857,
"protein_name": "Nucleolar protein 14",
"gene_name": "NOP14",
"organism": "Human",
"refseq_name": "nucleolar protein 14 isoform 1",
"refseq_ac": [
{
"id": "NP_001278907",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278907",
"type": "external"
}
],
"gene_names_uniprotkb": "NOP14; C4orf9; NOL14; RES4-25",
"gene_names_refseq": "C4orf9; NOL14; NOP14; RES4-25; RES425; UTP2",
"protein_names_uniprotkb": "Nucleolar protein 14; Nucleolar complex protein 14",
"protein_names_refseq": "NOP14 nucleolar protein homolog; nucleolar protein 14 isoform 1; probable nucleolar complex protein 14",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8602); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
"publication_count": 152,
"publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16565220;16738141;16782898;17081983;17189298;17353269;17412707;17636026;18065403;18318008;18438418;18452278;18669648;18691976;19007248;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19651622;19664995;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24275569;24424021;24550520;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25880248;25969445;26085946;26154972;26196125;26237581;26375851;26811146;26929215;26992070;27084949;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30779550;31217245;31844290;31971654;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33465208;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34218653;34561969;34932366;35051231;35473611;35580925;36010968;37217939;37938771;38272224;40596516;40914422;9211966;9482744;9512526;9661704;9734812",
"class_list": "",
"function": "CCND1, DNMT3B and NOP14 were identified as direct targets of miR-502-5p., [RefSeq, PubMed]; Increased expression of NOP14 is associated with improved prognosis due to immune regulation in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; NOP14 regulates the growth, migration, and invasion of colorectal cancer cells by modulating the NRIP1/GSK-3beta/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NOP14-mediated ribosome biogenesis is required for mTORC2 activation and predicts rapamycin sensitivity., [RefSeq, PubMed]; This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]",
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"secondary_ac_list": "D3DVR6;Q7LGI5;Q7Z6K0;Q8TBR6",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0030515 snoRNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0030686 90S preribosome;GO:0030692 Noc4p-Nop14p complex",
"go_biological_process": "GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0000472 endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0000480 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0006364 rRNA processing;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)",
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},
{
"uniprot_canonical_ac": "Q6W5P4-1",
"uniprot_id": [
{
"id": "NPSR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6W5P4",
"type": "external"
}
],
"mass": 42687.0,
"length": 371,
"protein_name": "Neuropeptide S receptor",
"gene_name": "NPSR1",
"organism": "Human",
"refseq_name": "neuropeptide S receptor isoform B short",
"refseq_ac": [
{
"id": "NP_001287862",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287862",
"type": "external"
}
],
"gene_names_uniprotkb": "NPSR1; GPR154; GPRA; PGR14",
"gene_names_refseq": "ASRT2; FNSS3; GPR154; GPRA; NPSR1; NPSR; PGR14; VRR1",
"protein_names_uniprotkb": "Neuropeptide S receptor; G protein-coupled receptor 154; G protein-coupled receptor PGR14; G protein-coupled receptor for asthma susceptibility",
"protein_names_refseq": "G-protein coupled receptor 154; G-protein coupled receptor PGR14; G-protein coupled receptor for asthma susceptibility; neuropeptide S receptor isoform B short; vasopressin receptor-related receptor 1",
"tax_id": 9606,
"disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); childhood-onset asthma (Disease Ontology:DOID:0080815); nocturnal asthma (Disease Ontology:DOID:0080826); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); morphine dependence (Disease Ontology:DOID:2560); asthma (Disease Ontology:DOID:2841); sleep disorder (Disease Ontology:DOID:535); rheumatoid arthritis (Disease Ontology:DOID:7148)",
"pathway": " (hsa:387129); (R-HSA-375276); (R-HSA-416476); (R-HSA-418555)",
"pathway_count": 4,
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"class_list": "",
"function": "G protein-coupled receptor for neuropeptide S (NPS) (PubMed:15947423, PubMed:16720571, PubMed:16790440). Receptor activation by NPS initiates a G(q)/GNAQ-dependent phospholipase C-activating signaling pathway, resulting in Ca(2+) mobilization from intracellular stores and increased intracellular Ca(2+) levels (PubMed:15312648, PubMed:15947423, PubMed:16720571, PubMed:16790440, PubMed:25714705, PubMed:26865629). In addition to this pathway, NPS binding to its receptor activates cAMP/PKA signal transduction (PubMed:26865629). Finally, both pathways converge to activate ERK1/ERK2 phosphorylation and signaling cascade (PubMed:26865629). Inhibits cell growth in response to NPS binding (PubMed:15947423)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GPRA might have functional relevance in modulating asthma by increased expression levels in the relevant tissues under diseased state and by potential inhibitory effect of GPRA-A activation on cell growth, [RefSeq, PubMed]; NPSR1 promotes chronic colitis through regulating CD4[+] T cell effector function in inflammatory bowel disease., [RefSeq, PubMed]; Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis., [RefSeq, PubMed]; Properties of GPRA make it a strong candidate for involvement in the pathogenesis of asthma and other IgE-mediated diseases; GPRA encodes isoforms produced in distinct patterns by bronchial epithelial & smooth muscle cells in asthma & healthy individuals, [RefSeq, PubMed]; This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Vasopressin receptor-related receptor 1, also called G protein-coupled receptor 154, has dual signaling properties in coupling to both G(q) and G(S) pathways., [RefSeq, PubMed]",
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"secondary_ac_list": "A2RTZ4;Q2XP58;Q56H76;Q56H77;Q56H78;Q6JSL4;Q6JSL5;Q6JSL6;Q6JSL7;Q6JSL8;Q6W5P3;Q6ZMB8",
"ec_number_list": [],
"go_molecular_function": "GO:0008188 neuropeptide receptor activity;GO:0005000 vasopressin receptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane",
"go_biological_process": "GO:1903999 negative regulation of eating behavior;GO:2000293 negative regulation of defecation;GO:0007218 neuropeptide signaling pathway;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0042755 eating behavior",
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},
{
"uniprot_canonical_ac": "Q9HB89-1",
"uniprot_id": [
{
"id": "NMUR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HB89",
"type": "external"
}
],
"mass": 47351.0,
"length": 426,
"protein_name": "Neuromedin-U receptor 1",
"gene_name": "NMUR1",
"organism": "Human",
"refseq_name": "neuromedin-U receptor 1",
"refseq_ac": [
{
"id": "NP_006047",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006047",
"type": "external"
}
],
"gene_names_uniprotkb": "NMUR1; GPR66; NMU1",
"gene_names_refseq": "(FM-3); FM-3; FM3; GPC-R; GPR66; NMU1R; NMUR1",
"protein_names_uniprotkb": "Neuromedin-U receptor 1; FM-3; G protein-coupled receptor 66; G protein-coupled receptor FM-3; NMU-R1; hFM-3; hNmU-R1",
"protein_names_refseq": "G-protein coupled receptor 66; G-protein coupled receptor FM-3; NMU-R1; neuromedin-U receptor 1",
"tax_id": 9606,
"disease": "obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:10316); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)",
"pathway_count": 4,
"publication_count": 137,
"publication_id_list": "10.1101/2023.09.13.557529;10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11007482;11015615;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15331768;15539556;15635449;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16634148;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;23446738;23690594;24906252;2534964;26154972;2649896;2748346;27496565;2834384;2841328;29493099;3086311;3202875;32350084;3366244;35051231;3525564;35440625;36232539;38071753;38378005;3856870;39894887;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9782091;9792798;9832121;9851594",
"class_list": "",
"function": "Expression of NMU and NMUR1 in tryptase-positive mast cells and PBLs in allergic rhinitis patients' nasal mucosa., [RefSeq, PubMed]; G protein-coupled receptor for the neuropeptides neuromedin-U (NMU) and neuromedin-S (NMS) (PubMed:10899166, PubMed:15635449, PubMed:35440625). Functionally, is involved in pleiotropic roles, including regulation of feeding, energy balance, blood pressure and smooth muscle contraction (By similarity). Additionally modulates hormone release and inflammatory responses in a tissue- and receptor-dependent manner (By similarity). Mechanistically, upon ligand binding, couples to Galpha proteins, namely GNAQ/Gaq or GNA11/Ga11 and GNAI1/Gai subunits (PubMed:15331768). GNAQ/Gaq or GNA11/Ga11 coupling activatse a phospholipase C (PLC), hydrolyzing PIP2 (phosphatidylinositol 4,5-bisphosphate) into DAG (diacylglycerol) and IP3 (inositol trisphosphate) and mobilizing intracellular calcium via IP3 receptors on the endoplasmic reticulum (PubMed:10899166, PubMed:15331768). Also couples to GNAI1/Gai to inhibit forskolin-stimulated cAMP accumulation (PubMed:15331768). In pancreatic beta cells, through neuromedin U-25, regulates insulin secretion where it coupled to GNAI2 and GNAO1, resulting in reduced intracellular Ca2+ influx and cAMP levels (By similarity). Through neuromedin U-25 in Th2-type T cells, enhances type 2 cytokine secretion and modulates inflammatory responses via activation of PLC-calcineurin-MEK and PI3K signaling pathways (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, UniProtKB]; Increased NMUR1 Expression in Mast Cells in the Synovial Membrane of Obese Osteoarthritis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Neuromedin U regulates the anti-tumor activity of CD8[+] T cells and glycolysis of tumor cells in the tumor microenvironment of pancreatic ductal adenocarcinoma in an NMUR1-dependent manner., [RefSeq, PubMed]",
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"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity;GO:0001607 neuromedin U receptor activity;GO:0042924 neuromedin U binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0097731 9+0 non-motile cilium",
"go_biological_process": "GO:0006939 smooth muscle contraction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0019722 calcium-mediated signaling;GO:0050850 positive regulation of calcium-mediated signaling",
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},
{
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"uniprot_id": [
{
"id": "SHSA7_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6NL88",
"type": "external"
}
],
"mass": 56214.0,
"length": 538,
"protein_name": "Protein shisa-7",
"gene_name": "SHISA7",
"organism": "Human",
"refseq_name": "protein shisa-7 precursor",
"refseq_ac": [
{
"id": "NP_001138648",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138648",
"type": "external"
}
],
"gene_names_uniprotkb": "SHISA7",
"gene_names_refseq": "CKAMP59; SHISA7",
"protein_names_uniprotkb": "Protein shisa-7; CKAMP59; Cystine-knot AMPAR modulating protein of 59 kDa; GABA(A) receptor auxiliary subunit Shisa7; Protein shisa-6-like",
"protein_names_refseq": "GABA(A) receptor auxiliary subunit Shisa7; UPF0626 protein A; cystine-knot AMPAR modulating protein of 59 kDa; protein shisa-7 precursor; protein shisa-7; shisa homolog 7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:729956)",
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"publication_id_list": "11237011;24715725;29557506;32387766;32488085;32655015;32938616;35051231;38253038",
"class_list": "",
"function": "Enhancer Function of MicroRNA-3681 Derived from Long Terminal Repeats Represses the Activity of Variable Number Tandem Repeats in the 3' UTR of SHISA7., [RefSeq, PubMed]; Transmembrane protein that regulates gamma-aminobutyric acid type A receptor (GABA(A)R) trafficking, channel deactivation kinetics and pharmacology, necessary for fast inhibitory transmission in the brain. Enhances the action of benzodiazepine, a primary GABA(A)Rs target drug, in the brain. May affect channel kinetics of AMPA-type glutamate receptors (AMPAR), the brain's main excitatory neurotransmitter, necessary for synaptic hippocampal plasticity, and memory recall. May regulate the induction and maintenance of long-term potentiation at Schaffer collaterals/CA3-CA1 excitatory synapses., [UniProtKB, UniProtKB]",
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"go_molecular_function": "GO:0050811 GABA receptor binding",
"go_cellular_component": "GO:0014069 postsynaptic density;GO:0045211 postsynaptic membrane;GO:0032591 dendritic spine membrane;GO:0098839 postsynaptic density membrane;GO:0016020 membrane",
"go_biological_process": "GO:0106040 regulation of GABA-A receptor activity;GO:0097112 gamma-aminobutyric acid receptor clustering;GO:0007613 memory;GO:1900273 positive regulation of long-term synaptic potentiation;GO:0007214 gamma-aminobutyric acid signaling pathway",
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},
{
"uniprot_canonical_ac": "B4DS77-1",
"uniprot_id": [
{
"id": "SHSA9_HUMAN",
"url": "https://www.uniprot.org/uniprot/B4DS77",
"type": "external"
}
],
"mass": 46925.0,
"length": 424,
"protein_name": "Protein shisa-9",
"gene_name": "SHISA9",
"organism": "Human",
"refseq_name": "protein shisa-9 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001138676",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138676",
"type": "external"
}
],
"gene_names_uniprotkb": "SHISA9",
"gene_names_refseq": "CKAMP44; SHISA9",
"protein_names_uniprotkb": "Protein shisa-9",
"protein_names_refseq": "cystine-knot AMPAR modulating protein; protein shisa-9 isoform 1 precursor; protein shisa-9; shisa homolog 9",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:729993)",
"pathway_count": 1,
"publication_count": 5,
"publication_id_list": "20185686;29242379;30459171;37938771;39894887",
"class_list": "",
"function": "Functionally characterizes the homologous mouse gene., [RefSeq, PubMed]; Regulator of short-term neuronal synaptic plasticity in the dentate gyrus. Associates with AMPA receptors (ionotropic glutamate receptors) in synaptic spines and promotes AMPA receptor desensitization at excitatory synapses (By similarity)., [UniProtKB]",
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"secondary_ac_list": "C9J314;C9JCE9",
"ec_number_list": [],
"go_molecular_function": "GO:0030165 PDZ domain binding",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0008328 ionotropic glutamate receptor complex;GO:0014069 postsynaptic density;GO:0045202 synapse;GO:0045211 postsynaptic membrane",
"go_biological_process": "GO:0048172 regulation of short-term neuronal synaptic plasticity",
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"record_id": "B4DS77-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96DW6-1",
"uniprot_id": [
{
"id": "S2538_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96DW6",
"type": "external"
}
],
"mass": 33566.0,
"length": 304,
"protein_name": "Mitochondrial glycine transporter",
"gene_name": "SLC25A38",
"organism": "Human",
"refseq_name": "mitochondrial glycine transporter isoform 1",
"refseq_ac": [
{
"id": "NP_060345",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060345",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC25A38",
"gene_names_refseq": "SIDBA2; SLC25A38",
"protein_names_uniprotkb": "Mitochondrial glycine transporter; Appoptosin; Mitochondrial glycine transporter GlyC; Solute carrier family 25 member 38",
"protein_names_refseq": "appoptosin; mitochondrial glycine transporter GlyC; mitochondrial glycine transporter isoform 1",
"tax_id": 9606,
"disease": "autosomal recessive pyridoxine-refractory sideroblastic anemia 2 (Disease Ontology:DOID:0060065); sideroblastic anemia (Disease Ontology:DOID:8955)",
"pathway": " (hsa:54977)",
"pathway_count": 1,
"publication_count": 33,
"publication_id_list": "11237011;16949250;19412178;19731322;21393332;23115192;23481700;25576301;26375851;26992070;27476175;28218747;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;30315122;31844290;31848261;31998317;32488085;32502341;32605921;32790119;33141586;33592498;33912179;34298585;35411037",
"class_list": "",
"function": "Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38., [RefSeq, PubMed]; Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the miochondrial matrix. Required during erythropoiesis., [UniProtKB, HAMAP, UniProtKB, UniProtKB, PubMed, PubMed]; Mutations in the SLC25A38 gene cause severe, non-syndromic, microcytic/hypochromic sideroblastic anemia in many populations., [RefSeq, PubMed]; Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent., [RefSeq, PubMed]; Our study identifies appoptosin as a crucial player in apoptosis and a novel pro-apoptotic protein involved in neuronal cell death., [RefSeq, PubMed]; Plays a role as pro-apoptotic protein that induces caspase-dependent apoptosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Review article, [RefSeq, PubMed]; This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]., [RefSeq]; Twelve CSA probands had biallelic mutations in SLC25A38, [RefSeq, PubMed]",
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"secondary_ac_list": "A1LP07;Q9NWX2",
"ec_number_list": [],
"go_molecular_function": "GO:0015187 glycine transmembrane transporter activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane",
"go_biological_process": "GO:0030218 erythrocyte differentiation;GO:0006783 heme biosynthetic process;GO:1904983 glycine import into mitochondrion",
"synthesized_glycan_count": 0,
"hit_score": 3.4,
"record_id": "Q96DW6-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TBP6-1",
"uniprot_id": [
{
"id": "S2540_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TBP6",
"type": "external"
}
],
"mass": 38125.0,
"length": 338,
"protein_name": "Mitochondrial glutathione transporter SLC25A40",
"gene_name": "SLC25A40",
"organism": "Human",
"refseq_name": "mitochondrial glutathione transporter SLC25A40",
"refseq_ac": [
{
"id": "NP_061331",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061331",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC25A40; MCFP",
"gene_names_refseq": "MCFP; SLC25A40",
"protein_names_uniprotkb": "Mitochondrial glutathione transporter SLC25A40; Mitochondrial carrier family protein; Solute carrier family 25 member 40",
"protein_names_refseq": "mitochondrial carrier family protein; mitochondrial glutathione transporter SLC25A40; probable mitochondrial glutathione transporter SLC25A40",
"tax_id": 9606,
"disease": "neurodegenerative disease (Disease Ontology:DOID:1289)",
"pathway": " (hsa:55972)",
"pathway_count": 1,
"publication_count": 28,
"publication_id_list": "11237011;16949250;20877624;23266187;24268658;25576301;26024233;26375851;26992070;27893789;28218747;28228285;28294470;28834231;29437277;29493099;30315122;30410026;31844290;32157095;32265295;32502341;32983136;33592498;34707288;35051231;36010968;37407483",
"class_list": "",
"function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable mitochondrial transporter required for glutathione import into mitochondria (PubMed:34707288). Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (PubMed:34707288). Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis (By similarity)., [UniProtKB, PubMed, UniProtKB]; SLC25A40 Facilitates Anticancer Drug Resistance in Human Leukemia K562 Cells., [RefSeq, PubMed]; SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]., [RefSeq]",
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"secondary_ac_list": "A8K483;D6W5P6;Q53GB1;Q9UHR1",
"ec_number_list": [],
"go_molecular_function": "GO:0034634 glutathione transmembrane transporter activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane",
"go_biological_process": "GO:0048821 erythrocyte development;GO:1990542 mitochondrial transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 2.9,
"record_id": "Q8TBP6-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O00337-1",
"uniprot_id": [
{
"id": "S28A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00337",
"type": "external"
}
],
"mass": 71584.0,
"length": 649,
"protein_name": "Sodium/nucleoside cotransporter 1",
"gene_name": "SLC28A1",
"organism": "Human",
"refseq_name": "sodium/nucleoside cotransporter 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001274691",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC28A1; CNT1",
"gene_names_refseq": "CNT1; HCNT1; SLC28A1; URCTU",
"protein_names_uniprotkb": "Sodium/nucleoside cotransporter 1; CNT 1; Concentrative nucleoside transporter 1; Na(+)/nucleoside cotransporter 1; Sodium-coupled nucleoside transporter 1; Solute carrier family 28 member 1; hCNT1",
"protein_names_refseq": "Na(+)/nucleoside cotransporter 1; concentrative nucleoside transporter 1; sodium-coupled nucleoside transporter 1; sodium/nucleoside cotransporter 1 isoform 1; sodium/nucleoside cotransporter 1; solute carrier family 28 (concentrative nucleoside transporter), member 1; solute carrier family 28 (sodium-coupled nucleoside transporter), member 1",
"tax_id": 9606,
"disease": "uridine-cytidineuria (MONDO:MONDO:0032773)",
"pathway": " (hsa:9154); (R-HSA-83936)",
"pathway_count": 2,
"publication_count": 35,
"publication_id_list": "10455109;11032837;11809823;14701834;15194733;15448143;15701636;16873718;18940313;18981177;19368893;21795683;21998139;24911211;2648994;28254787;28385889;29557506;30658162;30847922;32126230;32312148;33910126;33968037;34087483;35580925;37074911;39894887;5840415;5857365;8986748;9124315;9435697;9478986;9587671",
"class_list": "",
"function": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters., [RefSeq, PubMed]; Expression of the nucleoside transporters hENT1 (SLC29) and hCNT1 (SLC28) in pediatric acute myeloid leukemia., [RefSeq, PubMed]; Results that validate the newly developed structural homology model of CNT membrane architecture for human CNTs, revealed extended conformationally mobile regions within transport-domain TMs, identified pore-lining residues of functional importance, and provided evidence of an emerging novel elevator-type mechanism of transporter function., [RefSeq, PubMed]; Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical substrate transported with high apparent affinity, but low maximum velocity. Therefore, exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (PubMed:10455109, PubMed:14701834, PubMed:15194733, PubMed:21795683, PubMed:21998139, PubMed:30658162, PubMed:32126230, PubMed:9124315). Involved in renal nucleoside (re)absorption (PubMed:30658162)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "A0AV42;A8K7I2;O00335;O00336;Q5U5S6;Q5U648;Q9UEZ9",
"ec_number_list": [],
"go_molecular_function": "GO:0015212 cytidine transmembrane transporter activity;GO:0015213 uridine transmembrane transporter activity;GO:0005345 purine nucleobase transmembrane transporter activity;GO:0005415 nucleoside:sodium symporter activity;GO:0015389 pyrimidine- and adenosine-specific:sodium symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane",
"go_biological_process": "GO:0015861 cytidine transport;GO:0015862 uridine transmembrane transport;GO:0015855 pyrimidine nucleobase transport;GO:1901642 nucleoside transmembrane transport;GO:1904823 purine nucleobase transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 4.3,
"record_id": "O00337-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O15266-1",
"uniprot_id": [
{
"id": "SHOX_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15266",
"type": "external"
}
],
"mass": 32236.0,
"length": 292,
"protein_name": "Short stature homeobox protein",
"gene_name": "SHOX",
"organism": "Human",
"refseq_name": "short stature homeobox protein isoform SHOXa",
"refseq_ac": [
{
"id": "NP_000442",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000442",
"type": "external"
}
],
"gene_names_uniprotkb": "SHOX; PHOG",
"gene_names_refseq": "GCFX; PHOG; SHOX1; SHOXY; SHOX; SS",
"protein_names_uniprotkb": "Short stature homeobox protein; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein",
"protein_names_refseq": "growth control factor, X-linked; pseudoautosomal homeobox-containing osteogenic protein; short stature homeobox protein isoform SHOXa; short stature homeobox",
"tax_id": 9606,
"disease": "Leri-Weill dyschondrosteosis (Disease Ontology:DOID:0060847); SHOX-related short stature (Disease Ontology:DOID:0112120); Werner syndrome (Disease Ontology:DOID:5688); Langer mesomelic dysplasia (MONDO:MONDO:0009588)",
"pathway": " (hsa:6473)",
"pathway_count": 1,
"publication_count": 27,
"publication_id_list": "10749976;11030412;11403039;11751690;11889214;11891678;15173249;15173321;15931687;16325853;17881654;25576301;27846572;31848261;32387766;32938616;34509645;35051231;36010968;36672881;37107635;37695807;37750395;38580675;40388606;9140395;9259282",
"class_list": "",
"function": "Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability., [RefSeq, PubMed]; Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. Publication Status: Online-Only, [RefSeq, PubMed]; SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Review article, [RefSeq, PubMed]; This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that controls fundamental aspects of growth. Directly activates NPPB transcription in osteogenic cells (PubMed:11751690, PubMed:17881654). Preferentially binds DNA elements with the sequence 5'-TAATNNNATTA-3', possibly as a homodimer (PubMed:11751690)., [UniProtKB, PubMed, PubMed]",
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"missing_score": 10000,
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"secondary_ac_list": "O00412;O00413;O15267",
"ec_number_list": [],
"go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001501 skeletal system development",
"synthesized_glycan_count": 0,
"hit_score": 2.8,
"record_id": "O15266-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O60779-1",
"uniprot_id": [
{
"id": "S19A2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60779",
"type": "external"
}
],
"mass": 55400.0,
"length": 497,
"protein_name": "Thiamine transporter 1",
"gene_name": "SLC19A2",
"organism": "Human",
"refseq_name": "thiamine transporter 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001306596",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306596",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC19A2; THT1; TRMA",
"gene_names_refseq": "SLC19A2; TC1; THMD1; THT1; THTR1; TRMA",
"protein_names_uniprotkb": "Thiamine transporter 1; Solute carrier family 19 member 2; TC1; ThTr-1; ThTr1; Thiamine carrier 1",
"protein_names_refseq": "high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; thTr-1; thiamine transporter 1 isoform 2; thiamine transporter 1; thiamine-responsive megaloblastic anaemia",
"tax_id": 9606,
"disease": "thiamine-responsive megaloblastic anemia syndrome (Disease Ontology:DOID:0090117); megaloblastic anemia (Disease Ontology:DOID:13382); chronic kidney disease (Disease Ontology:DOID:784); diabetes mellitus (Disease Ontology:DOID:9351)",
"pathway": " (hsa:10560); (R-HSA-196819)",
"pathway_count": 2,
"publication_count": 37,
"publication_id_list": "10391221;10391222;10391223;10542220;10874303;11237011;11342111;11342117;11827967;12065289;14615284;16371350;16705148;16790503;18280798;19413330;20583149;21836059;23186163;23481700;24715725;29557506;29605689;30315122;32157095;32350084;32387766;32502341;33008889;34357683;35051231;35494241;35512554;35686496;35724964;36215666;36241641",
"class_list": "",
"function": "High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High-affinity transporter for the intake of thiamine., [UniProtKB, UniProtKB]; This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_glycation": 0,
"reported_snv": 15,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"disease_count": 4,
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"secondary_ac_list": "B2R9H0;B4E1X4;Q8WV87;Q9UBL7;Q9UKJ2;Q9UN31;Q9UN43",
"ec_number_list": [],
"go_molecular_function": "GO:0008517 folic acid transmembrane transporter activity;GO:0015234 thiamine transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0009229 thiamine diphosphate biosynthetic process;GO:0015888 thiamine transport;GO:0042723 thiamine-containing compound metabolic process;GO:0071934 thiamine transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 4.0,
"record_id": "O60779-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O75368-1",
"uniprot_id": [
{
"id": "SH3L1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75368",
"type": "external"
}
],
"mass": 12774.0,
"length": 114,
"protein_name": "Adapter SH3BGRL",
"gene_name": "SH3BGRL",
"organism": "Human",
"refseq_name": "adapter SH3BGRL",
"refseq_ac": [
{
"id": "NP_003013",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003013",
"type": "external"
}
],
"gene_names_uniprotkb": "SH3BGRL",
"gene_names_refseq": "HEL-S-115; SH3BGRL",
"protein_names_uniprotkb": "Adapter SH3BGRL; SH3 domain-binding glutamic acid-rich-like protein 1",
"protein_names_refseq": "SH3 domain binding glutamic acid-rich protein like; SH3 domain-binding glutamic acid-rich-like protein 1; SH3 domain-binding glutamic acid-rich-like protein; SH3-binding domain glutamic acid-rich protein like; adapter SH3BGRL; epididymis secretory protein Li 115",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6451)",
"pathway_count": 1,
"publication_count": 57,
"publication_id_list": "11230166;16080146;16511048;22645359;24714562;25576301;26024233;26154972;26992070;27846572;27862975;27920218;28218747;28228285;28467828;28832583;28834231;28855257;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30429286;30524438;30573663;31530632;31844290;31848261;31998317;32157095;32381043;32387766;32502341;32983136;33123756;33592498;33633747;33717175;33912179;33936100;33953316;33968037;34331014;34357683;34509645;34870550;34930999;34963436;35051231;35580925;36284347;37938771;9642120",
"class_list": "",
"function": "Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers., [RefSeq, PubMed]; Adaptor SH3BGRL promotes breast cancer metastasis through PFN1 degradation by translational STUB1 upregulation. Erratum:[Oncogene. 2022 Feb;41(8):1227. doi: 10.1038/s41388-021-02129-1. PMID: 34930999], [RefSeq, PubMed]; Appears to function as an adapter protein that bridges proteins together or proteins with mRNAs (PubMed:34331014). May function as a ubiquitin ligase-substrate adapter (PubMed:34331014, PubMed:34870550). Additionally, associates with translating cytoplasmic ribosomes and may promote the expression of specific mRNAs (PubMed:34331014, PubMed:34870550)., [UniProtKB, PubMed, PubMed]; Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation., [RefSeq, PubMed]; Distinct functions of CAR-T cells possessing a dectin-1 intracellular signaling domain., [RefSeq, PubMed]; H-SH3BGRL should present a novel class of the thioredoxin fold proteins, [RefSeq, PubMed]",
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"missing_score": 10000,
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"secondary_ac_list": "Q3SYL1;Q5JT50;Q6FIE8;Q9H0N8",
"ec_number_list": [],
"go_molecular_function": "GO:0017124 SH3 domain binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0140517 protein-RNA adaptor activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:1904690 positive regulation of cytoplasmic translational initiation",
"synthesized_glycan_count": 0,
"hit_score": 5.8,
"record_id": "O75368-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95977-1",
"uniprot_id": [
{
"id": "S1PR4_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95977",
"type": "external"
}
],
"mass": 41623.0,
"length": 384,
"protein_name": "Sphingosine 1-phosphate receptor 4",
"gene_name": "S1PR4",
"organism": "Human",
"refseq_name": "sphingosine 1-phosphate receptor 4 precursor",
"refseq_ac": [
{
"id": "NP_003766",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766",
"type": "external"
}
],
"gene_names_uniprotkb": "S1PR4; EDG6",
"gene_names_refseq": "EDG6; LPC1; S1P4; S1PR4; SLP4",
"protein_names_uniprotkb": "Sphingosine 1-phosphate receptor 4; Endothelial differentiation G protein-coupled receptor 6; S1P receptor 4; S1P receptor Edg-6; S1P4; Sphingosine 1-phosphate receptor Edg-6",
"protein_names_refseq": "S1P receptor 4; S1P receptor Edg-6; endothelial differentiation G-protein coupled receptor 6; endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6; sphingosine 1-phosphate receptor 4 precursor; sphingosine 1-phosphate receptor Edg-6",
"tax_id": 9606,
"disease": "NFIA-related disorder (Disease Ontology:DOID:0060409)",
"pathway": " (hsa:8698); (R-HSA-418594); (R-HSA-419408)",
"pathway_count": 3,
"publication_count": 74,
"publication_id_list": "10488065;10488122;10617617;10679247;10727522;10753843;10799507;11007482;12120503;12427546;12730698;15951850;16634148;16923326;17443712;18434541;18577758;19366702;20061941;2160972;22424782;23388400;23481700;24190977;24900670;2534964;25418920;26154972;26990079;27090790;2748346;27846572;2834384;28467828;28832583;28904123;29242379;29314611;29493099;29557506;29735753;30573663;31092671;31154438;31217245;31245869;31844290;31937595;31998317;32350084;32502341;32897882;32983136;33141586;33717175;33912179;33936100;34211107;34357683;35013382;35154160;35580925;36010968;36068391;37938771;7937899;8015379;8406495;8626678;8878560;9070858;9525886;9790765;9804623",
"class_list": "",
"function": "G protein-coupled receptor highly expressed in immune cells, where it regulates immune response and cytokine production. Functions as a receptor for the lysosphingolipid sphingosine-1-phosphate (S1P). Upon S1P binding, promotes regulatory T-cell differentiation and enhances fatty acid oxidation, through activation of the NRF2/PPARA signaling pathway (By similarity). Modulates also M1 macrophage activation through interaction with FPR2 and the JNK signaling, contributing to the inflammatory response (By similarity). In addition, facilitates early neutrophil mobilization and vascular activation during inflammation, promoting lymphocyte recruitment to draining lymph nodes and supporting the development of germinal centers for an effective adaptive immune response (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; NCF2, MYO1F, S1PR4, and FCN1 as potential noninvasive diagnostic biomarkers in patients with obstructive coronary artery: A weighted gene co-expression network analysis., [RefSeq, PubMed]; Silence of S1PR4 Represses the Activation of Fibroblast-like Synoviocytes by Regulating IL-17/STAT3 Signaling Pathway., [RefSeq, PubMed]; The sphingosine 1-phosphate receptor 2/4 antagonist JTE-013 elicits off-target effects on sphingolipid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"glyco_site_count": 2,
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"secondary_ac_list": "D6W612",
"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008289 lipid binding;GO:0038036 sphingosine-1-phosphate receptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0098793 presynapse",
"go_biological_process": "GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway",
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"hit_score": 7.6,
"record_id": "O95977-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P0DKV0-1",
"uniprot_id": [
{
"id": "S31C1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P0DKV0",
"type": "external"
}
],
"mass": 130522.0,
"length": 1188,
"protein_name": "Spermatogenesis-associated protein 31C1",
"gene_name": "SPATA31C1",
"organism": "Human",
"refseq_name": "spermatogenesis-associated protein 31C1",
"refseq_ac": [
{
"id": "NP_001138596",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138596",
"type": "external"
}
],
"gene_names_uniprotkb": "SPATA31C1; FAM75C1",
"gene_names_refseq": "FAM75C1; SPATA31C1",
"protein_names_uniprotkb": "Spermatogenesis-associated protein 31C1; Protein FAM75C1",
"protein_names_refseq": "family with sequence similarity 75, member C1; putative spermatogenesis-associated protein 31C1; spermatogenesis-associated protein 31C1; spermatogenesis-associated protein 31C2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:441452)",
"pathway_count": 1,
"publication_count": 5,
"publication_id_list": "29769354;30620550;31154438;31848261;35580925",
"class_list": "",
"function": "May play a role in spermatogenesis., [UniProtKB]",
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"go_cellular_component": "GO:0016020 membrane",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation",
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"hit_score": 0.8,
"record_id": "P0DKV0-1",
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},
{
"uniprot_canonical_ac": "P31213-1",
"uniprot_id": [
{
"id": "S5A2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P31213",
"type": "external"
}
],
"mass": 28407.0,
"length": 254,
"protein_name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2",
"gene_name": "SRD5A2",
"organism": "Human",
"refseq_name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2",
"refseq_ac": [
{
"id": "NP_000339",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000339",
"type": "external"
}
],
"gene_names_uniprotkb": "SRD5A2",
"gene_names_refseq": "SRD5A2",
"protein_names_uniprotkb": "3-oxo-5-alpha-steroid 4-dehydrogenase 2; 1.3.1.22; 5 alpha-SR2; S5AR 2; SR type 2; Steroid 5-alpha-reductase 2; Type II 5-alpha reductase",
"protein_names_refseq": "3-oxo-5-alpha-steroid 4-dehydrogenase 2; 5 alpha-SR2; S5AR 2; SR type 2; steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2); type II 5-alpha reductase",
"tax_id": 9606,
"disease": "prostate cancer (Disease Ontology:DOID:10283); hypospadias (Disease Ontology:DOID:10892); hyperprolactinemia (Disease Ontology:DOID:12700); breast carcinoma (Disease Ontology:DOID:3459); diabetes mellitus (Disease Ontology:DOID:9351); 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (MONDO:MONDO:0009923)",
"pathway": " (hsa:6716); (R-HSA-193048)",
"pathway_count": 2,
"publication_count": 59,
"publication_id_list": "10406467;10501358;10718838;10749132;10898110;10999800;11355945;12042668;12210487;12712437;1279965;12843198;12869400;14560315;1505484;15064320;1522235;15528927;15733480;15770495;16029630;16098368;16181229;1712709;17136762;17986282;18318566;18469342;19443907;1944596;19879888;19914946;19936164;2197970;2243100;23277398;2339109;23685396;24052700;24365257;2534550;25961201;3207614;37784175;3783591;37918676;38582131;38606616;38836672;7554313;8075637;8547185;8626825;8768837;9208814;9536209;9745434;9843052;9871428",
"class_list": "",
"function": "5alpha-reduction of epitestosterone is catalysed by human SRD5A1 and SRD5A2 and increases androgen receptor transactivation., [RefSeq, PubMed]; Catalyzes the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms (PubMed:10898110, PubMed:23685396). Converts testosterone into 5-alpha-dihydrotestosterone (DHT), the most active androgen in the prostate, as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development (PubMed:10898110, PubMed:23685396). Besides testosterone, it can also act on other steroids, including progesterone, producing metabolites with diverse roles (PubMed:10898110). Hence, it plays a central role in sexual differentiation and androgen physiology (PubMed:10898110)., [UniProtKB, PubMed, PubMed]; Enhanced prostatic Esr1[+] luminal epithelial cells in the absence of SRD5A2., [RefSeq, PubMed]; In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes., [RefSeq, PubMed]; MicroR-1199-5p targeting SRD5A2 promotes the biological behavior and EMT of hypospadias cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]., [RefSeq]; Two genetic variants in the SRD5A2 gene are found to be associated with sex differences in the disease characteristics of patients with chronic hepatitis B virus infection. Publication Status: Online-Only, [RefSeq, PubMed]",
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"missing_score": 10000,
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"secondary_ac_list": "B2RE87;Q2M1R4;Q9BYE6",
"ec_number_list": [
{
"id": "1.3.1.22",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.22",
"type": "external"
},
{
"id": "1.3.1.94",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.94",
"type": "external"
}
],
"go_molecular_function": "GO:0033218 amide binding;GO:0047045 testosterone dehydrogenase (NADP+) activity;GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity;GO:0047751 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity",
"go_cellular_component": "GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane;GO:0070852 cell body fiber",
"go_biological_process": "GO:0030540 female genitalia development;GO:0007267 cell-cell signaling;GO:0030154 cell differentiation;GO:0021766 hippocampus development;GO:0031667 response to nutrient levels",
"synthesized_glycan_count": 0,
"hit_score": 6.0,
"record_id": "P31213-1",
"record_type": "protein",
"filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P33764-1",
"uniprot_id": [
{
"id": "S10A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P33764",
"type": "external"
}
],
"mass": 11713.0,
"length": 101,
"protein_name": "Protein S100-A3",
"gene_name": "S100A3",
"organism": "Human",
"refseq_name": "protein S100-A3",
"refseq_ac": [
{
"id": "NP_002951",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002951",
"type": "external"
}
],
"gene_names_uniprotkb": "S100A3; S100E",
"gene_names_refseq": "S100A3; S100E",
"protein_names_uniprotkb": "Protein S100-A3; Protein S-100E; S100 calcium-binding protein A3",
"protein_names_refseq": "protein S100-A3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6274)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "12136135;12470658;18083705;21377473;30532072;30833945;31059116;31073086;31530632;33592498;33968037;34171305;35051231;8341667;9920417",
"class_list": "",
"function": "An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13. Publication Status: Online-Only, [RefSeq, PubMed]; Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation., [UniProtKB, PubMed]; Opposite effects on RARalpha/PML-RARalpha levels and ATRA-induced differentiation are observed upon S100A3 overexpression. Erratum:[Oncogene. 2023 Jan;42(3):254-258. doi: 10.1038/s41388-022-02564-8. PMID: 36476834], [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; This review discusses the role and potential use as biomarkers of semaphorin 3A (SEMA3A), protocadherin 9 (PCDH9), and S100 calcium binding protein A3 (S100A3) in carcinogenesis and chemoresistance of various tumors, including ovarian cancer., [RefSeq, PubMed]",
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"secondary_ac_list": "D3DV51;Q6FGE4",
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"go_molecular_function": "GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "",
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"filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P78324-1",
"uniprot_id": [
{
"id": "SHPS1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P78324",
"type": "external"
}
],
"mass": 54967.0,
"length": 504,
"protein_name": "Tyrosine-protein phosphatase non-receptor type substrate 1",
"gene_name": "SIRPA",
"organism": "Human",
"refseq_name": "tyrosine-protein phosphatase non-receptor type substrate 1 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001035111",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035111",
"type": "external"
}
],
"gene_names_uniprotkb": "SIRPA; BIT; MFR; MYD1; PTPNS1; SHPS1; SIRP",
"gene_names_refseq": "BIT; CD172A; MFR; MYD-1; MYD1; P84; PTPNS1; SHPS1; SIRPA; SIRP",
"protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type substrate 1; Bit; Brain Ig-like molecule with tyrosine-based activation motifs; CD172 antigen-like family member A; Inhibitory receptor SHPS-1; Macrophage fusion receptor; MyD-1 antigen; SHP substrate 1; SHPS-1; Signal-regulatory protein alpha-1; Signal-regulatory protein alpha-2; Signal-regulatory protein alpha-3; Sirp-alpha-1; Sirp-alpha-2; Sirp-alpha-3; p84",
"protein_names_refseq": "CD172 antigen-like family member A; brain-immunoglobulin-like molecule with tyrosine-based activation motifs; inhibitory receptor SHPS-1; macrophage fusion receptor; myd-1 antigen; tyrosine phosphatase SHP substrate 1; tyrosine-protein phosphatase non-receptor type substrate 1 isoform 1 precursor; tyrosine-protein phosphatase non-receptor type substrate 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:140885); (R-HSA-202733); (R-HSA-391160); (R-HSA-6798695)",
"pathway_count": 4,
"publication_count": 131,
"publication_id_list": "10.1101/2023.09.13.557529;10469599;10572074;10585853;10606205;10764623;10842184;11207550;11256994;11509594;11564780;11779189;11812992;12023008;12070135;12208882;12469115;12782713;14529530;14531999;14615387;15000751;15294972;15383453;15528364;15681301;15721307;1591491;16213021;16258728;16297198;16335952;16585556;16691243;16737840;16783819;17016520;17064312;17070842;17099249;17116209;17167768;17172599;17322099;17369261;17379836;17389395;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17999719;18657508;19159218;19279206;19628875;21193412;21659548;23090970;23345538;23650620;23945545;24043627;24190977;24275569;24511121;24764293;2538457;25645385;26154972;27452731;27726376;28657654;28832583;28871256;29242379;29393594;29557506;29741879;29786170;30429286;31154438;31530632;31844290;31848261;32157095;32162841;32357974;32488085;32938616;32983136;33043033;33298915;33592498;34357683;34561969;35051231;35154160;35251023;35494241;35580925;36010968;37074911;37844448;38245585;38279488;38665916;38758648;39258954;468991;7509040;7521878;8163559;8166770;8314844;8692836;9052782;9062191;9070220;9169774;9242610;9295288;9382878;9485180;9693095;9763524",
"class_list": "",
"function": "Anti-tumor effect of PTEN and its effect on inhibition of the bone tumor through the CD47-SIRPalpha signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signaling during synaptogenesis and in synaptic function (By similarity). Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. CD47 binding prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Plays a role in antiviral immunity and limits new world arenavirus infection by decreasing virus internalization (By similarity). Receptor for THBS1 (PubMed:24511121). Interaction with THBS1 stimulates phosphorylation of SIRPA (By similarity). In response to THBS1, involved in ROS signaling in non-phagocytic cells, stimulating NADPH oxidase-derived ROS production (PubMed:24511121)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Podocyte SIRPalpha reduction aggravates lupus nephritis via promoting T cell inflammatory responses., [RefSeq, PubMed]; SIRP-alpha-IL-6 axis induces immunosuppressive macrophages in non-small-cell lung cancer., [RefSeq, PubMed]; Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPalpha. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of signal regulatory protein alpha (SIRPalpha) in periodontal cells and tissue. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A2A2E1;A8K411;B2R6C3;O00683;O43799;Q8N517;Q8TAL8;Q9H0Z2;Q9UDX2;Q9UIJ6;Q9Y4U9",
"ec_number_list": [],
"go_molecular_function": "GO:0017124 SH3 domain binding;GO:1990405 protein antigen binding;GO:0019903 protein phosphatase binding;GO:0030695 GTPase regulator activity;GO:0004864 protein phosphatase inhibitor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane",
"go_biological_process": "GO:0032651 regulation of interleukin-1 beta production;GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0032715 negative regulation of interleukin-6 production;GO:0032720 negative regulation of tumor necrosis factor production",
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"hit_score": 19.0,
"record_id": "P78324-1",
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"filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q2Y0W8-1",
"uniprot_id": [
{
"id": "S4A8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q2Y0W8",
"type": "external"
}
],
"mass": 122938.0,
"length": 1093,
"protein_name": "Electroneutral sodium bicarbonate exchanger 1",
"gene_name": "SLC4A8",
"organism": "Human",
"refseq_name": "electroneutral sodium bicarbonate exchanger 1 isoform a",
"refseq_ac": [
{
"id": "NP_001035049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035049",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC4A8; KIAA0739; NBC3; NBC; NDCBE1",
"gene_names_refseq": "NBC3; NDCBE; SLC4A8",
"protein_names_uniprotkb": "Electroneutral sodium bicarbonate exchanger 1; Electroneutral Na(+)-driven Cl-HCO3 exchanger; Solute carrier family 4 member 8; k-NBC3",
"protein_names_refseq": "electroneutral Na(+)-driven Cl-HCO3 exchanger; electroneutral sodium bicarbonate exchanger 1 isoform a; electroneutral sodium bicarbonate exchanger 1; k-NBC3; solute carrier family 4, sodium bicarbonate cotransporter, member 8",
"tax_id": 9606,
"disease": "prediabetes syndrome (Disease Ontology:DOID:11716); anemia (Disease Ontology:DOID:2355)",
"pathway": " (hsa:9498); (R-HSA-425381)",
"pathway_count": 2,
"publication_count": 49,
"publication_id_list": "10347222;10362779;10545938;10978526;11133997;11305939;11788353;17715183;18319254;18577713;18669648;20068231;24472682;25880248;2594752;27846572;27920218;28228285;28832583;28935959;29242379;29557506;29789417;3015590;30315122;30429286;30524438;30779550;31154438;31844290;32350084;32357974;32502341;32983136;33592498;34087483;34171305;34357683;34584093;34932366;35051231;38253038;7506871;7530501;7923606;8206915;9235899;9312167;9651366",
"class_list": "",
"function": "Cryo-EM structure of the sodium-driven chloride/bicarbonate exchanger NDCBE. Erratum:[Nat Commun. 2021 Oct 13;12(1):6083. doi: 10.1038/s41467-021-26412-7. PMID: 34645810] Publication Status: Online-Only, [RefSeq, PubMed]; Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1 (PubMed:18577713). Plays a major role in pH regulation in neurons (By similarity). Mediates sodium reabsorption in the renal cortical collecting ducts (By similarity)., [UniProtKB, UniProtKB, PubMed]; The crystal structure at 2.8 A resolution of the regulatory N-terminal domain of human NDCBE represents the first crystal structure of an electroneutral sodium-bicarbonate cotransporter. The crystal structure forms an equivalent dimeric interface as observed for the cytoplasmic domain of Band 3, and thus establishes that the consensus motif VTVLP is the key minimal dimerization motif. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; This study confirmed the presence in human cDNA of mouse NDCBE-like transcripts (human NDCBE-A) and three novel transcripts NDCBE-C, NDCBE-D, and NDCBE-D'., [RefSeq, PubMed]",
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"secondary_ac_list": "A0MMZ1;B4DHY0;E7EML0;F5GZ31;F5H7F5;O94843;O95233;Q004B4;Q8N3U2;Q8TC60;Q9UKX8",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0015081 sodium ion transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0008510 sodium:bicarbonate symporter activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097457 hippocampal mossy fiber;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane",
"go_biological_process": "GO:2000302 positive regulation of synaptic vesicle exocytosis;GO:0042391 regulation of membrane potential;GO:0055085 transmembrane transport;GO:0050804 modulation of chemical synaptic transmission;GO:1902476 chloride transmembrane transport",
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"record_id": "Q2Y0W8-1",
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},
{
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"uniprot_id": [
{
"id": "SHSA2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6UWI4",
"type": "external"
}
],
"mass": 31375.0,
"length": 295,
"protein_name": "Protein shisa-2 homolog",
"gene_name": "SHISA2",
"organism": "Human",
"refseq_name": "protein shisa-2 homolog precursor",
"refseq_ac": [
{
"id": "NP_001007539",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007539",
"type": "external"
}
],
"gene_names_uniprotkb": "SHISA2; C13orf13; PRO28631; TMEM46",
"gene_names_refseq": "C13orf13; PRO28631; SHISA2; TMEM46; WGAR9166; bA398O19.2; hShisa",
"protein_names_uniprotkb": "Protein shisa-2 homolog; Transmembrane protein 46",
"protein_names_refseq": "protein shisa-2 homolog precursor; protein shisa-2 homolog; shisa homolog 2; transmembrane protein 46",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:387914)",
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"publication_id_list": "12975309;15340161;29393594;40307207",
"class_list": "",
"function": "Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling., [UniProtKB]",
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"secondary_ac_list": "B9EH70;Q5W0G8",
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"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0030178 negative regulation of Wnt signaling pathway;GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathway",
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"kg_view_protein": true
},
{
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{
"id": "SEP14_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ZU15",
"type": "external"
}
],
"mass": 50025.0,
"length": 432,
"protein_name": "Septin-14",
"gene_name": "SEPTIN14",
"organism": "Human",
"refseq_name": "septin-14",
"refseq_ac": [
{
"id": "NP_997249",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_997249",
"type": "external"
}
],
"gene_names_uniprotkb": "SEPTIN14; SEPT14",
"gene_names_refseq": "SEPT14; SEPTIN14; Septin-14",
"protein_names_uniprotkb": "Septin-14",
"protein_names_refseq": "septin-14",
"tax_id": 9606,
"disease": "Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:346288)",
"pathway_count": 1,
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"publication_id_list": "17922164;25576301;26992070;27115672;27600516;27846572;27862975;28832583;28834231;29242379;29508533;29557506;29632711;29786170;31222486;31450874;31530632;31844290;32249155;32357974;32938616;32983136;33228246;33968037;34932366;35051231;35580925;36241641;36284347;37712436",
"class_list": "",
"function": "Expression and localization of Septin 14 gene and protein in infertile men testis., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role in sperm head formation during spermiogenesis, potentially via facilitating localization of ACTN4 to cell filaments (PubMed:33228246)., [UniProtKB, UniProtKB, PubMed]; SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]., [RefSeq]; SEPT14 maps to 7p11.2 and includes a conserved GTPase domain and a predicted carboxy-terminus coiled-coil domain characteristic of other septins., [RefSeq, PubMed]; The three SEPT14 SNPs defined a protective haplotype which significantly reduced the risk for Parkinson disease was found to be expressed in the brain., [RefSeq, PubMed]; X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
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"reported_snv": 9,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 1,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A6NCC2;B4DXD6",
"ec_number_list": [],
"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding",
"go_cellular_component": "GO:0005940 septin ring;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0030424 axon;GO:0030425 dendrite",
"go_biological_process": "GO:0001764 neuron migration;GO:0007286 spermatid development;GO:0008104 intracellular protein localization;GO:1905719 protein localization to perinuclear region of cytoplasm;GO:0061640 cytoskeleton-dependent cytokinesis",
"synthesized_glycan_count": 0,
"hit_score": 3.1,
"record_id": "Q6ZU15-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IVM8-1",
"uniprot_id": [
{
"id": "S22A9_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IVM8",
"type": "external"
}
],
"mass": 62169.0,
"length": 553,
"protein_name": "Organic anion transporter 7",
"gene_name": "SLC22A9",
"organism": "Human",
"refseq_name": "organic anion transporter 7",
"refseq_ac": [
{
"id": "NP_543142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_543142",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC22A9; OAT7; UST3; hOAT4",
"gene_names_refseq": "HOAT4; OAT4; OAT7; SLC22A9; UST3H; ust3",
"protein_names_uniprotkb": "Organic anion transporter 7; OAT7; Organic anion/short-chain fatty acid exchanger; Solute carrier family 22 member 9",
"protein_names_refseq": "organic anion transporter 4; organic anion transporter 7; organic anion/short-chain fatty acid exchanger; solute carrier family 22 (organic anion transporter), member 9; solute carrier family 22 (organic anion/cation transporter), member 9",
"tax_id": 9606,
"disease": "mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); Lynch syndrome (Disease Ontology:DOID:3883)",
"pathway": " (hsa:114571)",
"pathway_count": 1,
"publication_count": 16,
"publication_id_list": "11327718;12409283;16959974;17341544;17393504;24715725;26239079;28218747;28945155;29437277;29769354;29906129;33013684;35051231;36284347;37340703",
"class_list": "",
"function": "Both progesterone and activation of PKC inhibited hOAT4 activity through redistribution of the transporter from cell surface to the intracellular compartments., [RefSeq, PubMed]; Large interindividual variability was noted in the hepatic expression of OAT2 (16-fold in human liver tissue and 23-fold in hepatocytes). OAT7, on the other hand, showed less interindividual variability (4-fold) in the livers, but high variability for the hepatocyte lots (27-fold). A significant positive correlation in OAT2 and OAT7 expression was observed, but expression levels were neither associated with age nor sex., [RefSeq, PubMed]; Pravastatin is the first identified OAT7 drug substrate. Substantial inter-individual variability in hepatic OAT7 expression, majorly driven by HNF4alpha, may contribute to pravastatin drug disposition and might affect response., [RefSeq, PubMed]; Sodium-independent organic anion transporter, exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones such as estrone 3-sulfate (E1S) and dehydroepiandrosterone sulfate (DHEAS) (PubMed:17393504, PubMed:26239079, PubMed:28945155). Can transport the statin pravastatin and may contribute to its disposition into the hepatocytes when the function of OATPs is compromised (PubMed:26239079). It is specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate (propanoate), butyrate (butanoate) and valerate (pentanoate) (PubMed:17393504). May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs, in particular butanoate, at the sinusoidal membrane of hepatocytes (PubMed:17393504)., [UniProtKB, PubMed, PubMed, PubMed]; The Membrane Transporter OAT7 (SLC22A9) Is Not a Susceptibility Factor for Osteoporosis in Europeans. Publication Status: Online-Only, [RefSeq, PubMed]; Two human organic anion transporters OAT2 and OAT7 activities were assessed., [RefSeq, PubMed]; Uptake of steroid sulfates by isolated trophoblasts is mediated by OATP-B and OAT-4 suggesting a physiological role of both carrier proteins in placental uptake of fetal-derived steroid sulfates., [RefSeq, PubMed]",
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"reported_snv": 20,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 2,
"glyco_site_count": 5,
"binding_glycan_count": 0,
"secondary_ac_list": "A0AVB7;A4PB24;Q8TCC8;Q8TEC0;Q8WYN7",
"ec_number_list": [],
"go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015636 short-chain fatty acid transmembrane transporter activity",
"go_cellular_component": "GO:0016323 basolateral plasma membrane",
"go_biological_process": "GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport;GO:0015913 short-chain fatty acid transmembrane transport;GO:0009914 hormone transport",
"synthesized_glycan_count": 0,
"hit_score": 2.0,
"record_id": "Q8IVM8-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IY50-1",
"uniprot_id": [
{
"id": "S35F3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IY50",
"type": "external"
}
],
"mass": 46817.0,
"length": 421,
"protein_name": "Solute carrier family 35 member F3",
"gene_name": "SLC35F3",
"organism": "Human",
"refseq_name": "solute carrier family 35 member F3 isoform 2",
"refseq_ac": [
{
"id": "NP_001287774",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287774",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC35F3",
"gene_names_refseq": "SLC35F3",
"protein_names_uniprotkb": "Solute carrier family 35 member F3; Thiamine transporter SLC35F3",
"protein_names_refseq": "putative thiamine transporter SLC35F3; solute carrier family 35 member F3 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:148641)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "19252338;23481700;24509276;25892735;29242379;32161166;35051231;36241641;40972734",
"class_list": "",
"function": "Mediates thiamine transport. Also mediates choline transport, although the underlying transport mechanism remains to be elucidated (PubMed:40972734)., [UniProtKB, PubMed, PubMed]",
"predicted_glycosites": 0,
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q5TDD6;Q8N9C9",
"ec_number_list": [
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
}
],
"go_molecular_function": "GO:0015220 choline transmembrane transporter activity",
"go_cellular_component": "GO:0016020 membrane",
"go_biological_process": "GO:0015871 choline transport;GO:0015888 thiamine transport",
"synthesized_glycan_count": 0,
"hit_score": 1.0,
"record_id": "Q8IY50-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IZD6-1",
"uniprot_id": [
{
"id": "S22AF_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IZD6",
"type": "external"
}
],
"mass": 60540.0,
"length": 547,
"protein_name": "Solute carrier family 22 member 15",
"gene_name": "SLC22A15",
"organism": "Human",
"refseq_name": "solute carrier family 22 member 15",
"refseq_ac": [
{
"id": "NP_060890",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060890",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC22A15; FLIPT1; PRO34686",
"gene_names_refseq": "FLIPT1; PRO34686; SLC22A15",
"protein_names_uniprotkb": "Solute carrier family 22 member 15; Flipt 1; Fly-like putative transporter 1",
"protein_names_refseq": "flipt 1; fly-like putative organic ion transporter 1; fly-like putative transporter 1; solute carrier family 22 (organic cation transporter), member 15; solute carrier family 22 member 15; trans-like protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55356); (R-HSA-549127)",
"pathway_count": 2,
"publication_count": 35,
"publication_id_list": "10072434;10196521;10966924;12089149;12372408;12384147;12975309;14608356;14674884;15028572;15107849;15184985;15795384;16330770;16788146;16807400;17509534;23481700;26522469;32387766;32502341;32938616;33124720;33392160;33968037;34509645;35051231;35580925;7989337;8647271;9260930;9520460;9655880;9685390;9744804",
"class_list": "",
"function": "Deorphaning a solute carrier 22 family member, SLC22A15, through functional genomic studies., [RefSeq, PubMed]; Flipts might have a role in carnitine transport, particularly in brain, [RefSeq, PubMed]; Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]., [RefSeq]; Organic zwitterion/cation transporter with apparent specificity for amino acids and their derivatives. Has low affinity for its substrates and may regulate their flux across the plasma membrane at high substrate concentrations (PubMed:33124720). Bidirectionally transports carnitine and acetylcarnitine, possibly regulating their cytosolic abundance and further fatty acid catabolism via beta oxidation (PubMed:33124720). Displays high transport activity toward zwitterionic substrates such as glycine betaine and diet-derived ergothioneine and carnosine. Can transport cations having an indole skeleton such as thiamine with lower efficiency. Does not transport agmatine (PubMed:15028572, PubMed:33124720). The transport mechanism, symport with sodium or facilitated diffusion allosterically regulated by sodium, remains to be elucidated (Probable)., [UniProtKB, PubMed, PubMed]",
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"reported_snv": 23,
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"secondary_ac_list": "A8MUR3;Q6UXP5;Q8TAL9;Q9NSH5",
"ec_number_list": [],
"go_molecular_function": "GO:0015199 amino-acid betaine transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0006811 monoatomic ion transport;GO:0006865 amino acid transport",
"synthesized_glycan_count": 0,
"hit_score": 3.6,
"record_id": "Q8IZD6-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NBS3-3",
"uniprot_id": [
{
"id": "S4A11_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NBS3",
"type": "external"
}
],
"mass": 98181.0,
"length": 875,
"protein_name": "Solute carrier family 4 member 11",
"gene_name": "SLC4A11",
"organism": "Human",
"refseq_name": "solute carrier family 4 member 11 isoform 3",
"refseq_ac": [
{
"id": "NP_001167560",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167560",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC4A11; BTR1",
"gene_names_refseq": "BTR1; CDPD1; CHED2; CHED; NABC1; SLC4A11; dJ794I6.2",
"protein_names_uniprotkb": "Solute carrier family 4 member 11; NaBC1; Sodium borate cotransporter 1",
"protein_names_refseq": "bicarbonate transporter related protein 1; sodium-coupled borate cotransporter 1; solute carrier family 4 member 11 isoform 3; solute carrier family 4, sodium bicarbonate transporter-like, member 11; solute carrier family 4, sodium borate transporter, member 11",
"tax_id": 9606,
"disease": "congenital hereditary endothelial dystrophy of cornea (Disease Ontology:DOID:0060649); corneal dystrophy-perceptive deafness syndrome (Disease Ontology:DOID:0111620); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); anemia (Disease Ontology:DOID:2355)",
"pathway": " (hsa:83959)",
"pathway_count": 1,
"publication_count": 35,
"publication_id_list": "11302728;11836359;12654361;15525507;16767101;16825429;17220209;17397048;17679935;18024964;18474783;19369245;20108384;20185830;20848555;21203343;21288032;22072594;23481700;23813972;25007886;25576301;25892735;26286922;26992070;27581649;28642546;31273259;32161166;34185709;36037197;36115991;37787991;37788993;38252645",
"class_list": "",
"function": "Congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses., [RefSeq, PubMed]; Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy. Erratum:[Orphanet J Rare Dis. 2023 Jun 29;18(1):170. doi: 10.1186/s13023-023-02791-6. PMID: 37386499] Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesis (By similarity). In the absence of B(OH)4(-), acts as a Na(+)-coupled OH(-) or H(+) permeable channel with implications in cellular redox balance (PubMed:15525507, PubMed:28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PubMed:28642546). In response to hypo-osmotic challenge, also acts as a water permeable channel at the basolateral cell membrane of corneal endothelial cells and facilitates transendothelial fluid reabsorption in the aqueous humor (PubMed:23813972, PubMed:25007886, PubMed:31273259). In the presence of ammonia, acts as an electrogenic NH3/H(+) cotransporter and may play a role in ammonia transport and reabsorption in renal Henle's loop epithelium (PubMed:27581649)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan. Erratum:[PLoS One. 2023 Oct 26;18(10):e0293769. doi: 10.1371/journal.pone.0293769. PMID: 37883379] Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy., [RefSeq, PubMed]; Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2. Publication Status: Online-Only, [RefSeq, PubMed]; The corneal dystrophy and perceptive deafness (Harboyan syndrome) gene (CDPD1) maps to chromosome 20p13., [RefSeq, PubMed]; This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]., [RefSeq]",
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"reported_snv": 16,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "B4DKC8;B4DKX9;G3V1M3;Q2TB62;Q2TB63;Q9BXF4;Q9NTW9",
"ec_number_list": [],
"go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0046983 protein dimerization activity;GO:0015293 symporter activity;GO:0005372 water transmembrane transporter activity;GO:0005272 sodium channel activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0012506 vesicle membrane",
"go_biological_process": "GO:0071476 cellular hypotonic response;GO:0055085 transmembrane transport;GO:0051881 regulation of mitochondrial membrane potential;GO:0034599 cellular response to oxidative stress;GO:0006814 sodium ion transport",
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"record_id": "Q8NBS3-3",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TBB6-1",
"uniprot_id": [
{
"id": "S7A14_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TBB6",
"type": "external"
}
],
"mass": 84052.0,
"length": 771,
"protein_name": "Solute carrier family 7 member 14",
"gene_name": "SLC7A14",
"organism": "Human",
"refseq_name": "solute carrier family 7 member 14",
"refseq_ac": [
{
"id": "NP_066000",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_066000",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC7A14; KIAA1613",
"gene_names_refseq": "PPP1R142; SLC7A14",
"protein_names_uniprotkb": "Solute carrier family 7 member 14; Gamma-aminobutyric acid transporter SLC7A14",
"protein_names_refseq": "gamma-aminobutyric acid transporter SLC7A14; probable cationic amino acid transporter; protein phosphatase 1, regulatory subunit 142; solute carrier family 7 (cationic amino acid transporter, y+ system), member 14; solute carrier family 7 (orphan transporter), member 14; solute carrier family 7 member 14",
"tax_id": 9606,
"disease": "retinitis pigmentosa 68 (Disease Ontology:DOID:0110374); sensorineural hearing loss (Disease Ontology:DOID:10003); blindness (Disease Ontology:DOID:1432)",
"pathway": " (hsa:57709)",
"pathway_count": 1,
"publication_count": 11,
"publication_id_list": "22787143;24670872;27028480;29242379;29557506;30924391;32350084;32502341;32938616;35051231;35394837",
"class_list": "",
"function": "A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport., [RefSeq, PubMed]; Data suggests that cationic transporter SLC7A14 has an important role in retinal development and visual function. Publication Status: Online-Only, [RefSeq, PubMed]; Imports 4-aminobutanoate (GABA) into lysosomes. May act as a GABA sensor that regulates mTORC2-dependent INS signaling and gluconeogenesis. The transport mechanism and substrate selectivity remain to be elucidated., [UniProtKB, UniProtKB]; Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction., [RefSeq, PubMed]; The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients., [RefSeq, PubMed]; This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]., [RefSeq]; We applied Targeted exome sequencing to the molecular diagnosis of patients with inherited retinal dystrophy and for the first time identified SLC7A14 mutations in two unrelated families with retinitis pigmentosa and Leber congenital amaurosis separately., [RefSeq, PubMed]",
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"secondary_ac_list": "B3KV33;Q9HCF9",
"ec_number_list": [],
"go_molecular_function": "GO:0015171 amino acid transmembrane transporter activity;GO:0015185 gamma-aminobutyric acid transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane",
"go_biological_process": "GO:0006865 amino acid transport;GO:0051939 gamma-aminobutyric acid import",
"synthesized_glycan_count": 0,
"hit_score": 1.2,
"record_id": "Q8TBB6-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TBE7-1",
"uniprot_id": [
{
"id": "S35G2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TBE7",
"type": "external"
}
],
"mass": 46422.0,
"length": 412,
"protein_name": "Solute carrier family 35 member G2",
"gene_name": "SLC35G2",
"organism": "Human",
"refseq_name": "solute carrier family 35 member G2",
"refseq_ac": [
{
"id": "NP_001091068",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091068",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC35G2; TMEM22",
"gene_names_refseq": "SLC35G2; TMEM22",
"protein_names_uniprotkb": "Solute carrier family 35 member G2; Transmembrane protein 22",
"protein_names_refseq": "solute carrier family 35 member G2; transmembrane protein 22",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:80723)",
"pathway_count": 1,
"publication_count": 26,
"publication_id_list": "11230166;17081983;18691976;18767875;19148500;20237496;21209280;23186163;24715725;28218747;28904123;30833945;31222486;31844290;31848261;32350084;32387766;32488085;32502341;32938616;33298915;33968037;34171305;34357683;35051231;36010968",
"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The TMEM22/RAB37 complex is likely to play a crucial role in growth of renal cell carcinoma, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "B2RA80;D3DNE1;Q9BWN4;Q9H0S6",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030672 synaptic vesicle membrane",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 2.7,
"record_id": "Q8TBE7-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TCC7-1",
"uniprot_id": [
{
"id": "S22A8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TCC7",
"type": "external"
}
],
"mass": 59856.0,
"length": 542,
"protein_name": "Organic anion transporter 3",
"gene_name": "SLC22A8",
"organism": "Human",
"refseq_name": "organic anion transporter 3 isoform 1",
"refseq_ac": [
{
"id": "NP_001171661",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171661",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC22A8; OAT3",
"gene_names_refseq": "OAT3; SLC22A8",
"protein_names_uniprotkb": "Organic anion transporter 3; Organic anion/dicarboxylate exchanger; Solute carrier family 22 member 8; hOAT3",
"protein_names_refseq": "hOAT3; organic anion transporter 3 isoform 1; organic anion transporter 3; organic anion/dicarboxylate exchanger; solute carrier family 22 (organic anion transporter), member 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9376); (R-HSA-561048); (R-HSA-9793528)",
"pathway_count": 3,
"publication_count": 63,
"publication_id_list": "10049739;10660625;11237011;11306713;11327718;11669456;11855680;11877335;11907186;11912245;12024214;12811365;14586168;14675047;15037815;15634722;15644426;15716365;15832500;15846473;15864504;15901346;15901800;16291576;16455804;16602760;17274666;17639028;18200507;18381565;1864287;21824501;21930826;22108572;22354288;22841915;23481700;23545524;23832370;24913236;26377792;26992070;28505497;28534121;29557506;31004787;31154438;31323489;31553721;3158274;31691080;32387766;33392160;33836300;35051231;35406626;36316339;37074911;8383921;9283689;9762842;9887087;9950961",
"class_list": "",
"function": "Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3., [RefSeq, PubMed]; Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions. Publication Status: Online-Only, [RefSeq, PubMed]; Elucidation of the molecular mechanism for renal tetracycline transport by human organic anion transporters (hOATs) using proximal tubular cells stably expressing hOATs, [RefSeq, PubMed]; Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an organic anion/dicarboxylate exchanger that couples organic anion uptake indirectly to the sodium gradient (PubMed:14586168, PubMed:15644426, PubMed:15846473, PubMed:16455804, PubMed:31553721). Transports organic anions such as estrone 3-sulfate (E1S) and urate in exchange for dicarboxylates such as glutarate or ketoglutarate (2-oxoglutarate) (PubMed:14586168, PubMed:15846473, PubMed:15864504, PubMed:22108572, PubMed:23832370). Plays an important role in the excretion of endogenous and exogenous organic anions, especially from the kidney and the brain (PubMed:11306713, PubMed:14586168, PubMed:15846473). E1S transport is pH- and chloride-dependent and may also involve E1S/cGMP exchange (PubMed:26377792). Responsible for the transport of prostaglandin E2 (PGE2) and prostaglandin F2(alpha) (PGF2(alpha)) in the basolateral side of the renal tubule (PubMed:11907186). Involved in the transport of neuroactive tryptophan metabolites kynurenate and xanthurenate (PubMed:22108572, PubMed:23832370). Functions as a biopterin transporters involved in the uptake and the secretion of coenzymes tetrahydrobiopterin (BH4), dihydrobiopterin (BH2) and sepiapterin to urine, thereby determining baseline levels of blood biopterins (PubMed:28534121). May be involved in the basolateral transport of steviol, a metabolite of the popular sugar substitute stevioside (PubMed:15644426). May participate in the detoxification/ renal excretion of drugs and xenobiotics, such as the histamine H(2)-receptor antagonists fexofenadine and cimetidine, the antibiotic benzylpenicillin (PCG), the anionic herbicide 2,4-dichloro-phenoxyacetate (2,4-D), the diagnostic agent p-aminohippurate (PAH), the antiviral acyclovir (ACV), and the mycotoxin ochratoxin (OTA), by transporting these exogenous organic anions across the cell membrane in exchange for dicarboxylates such as 2-oxoglutarate (PubMed:11669456, PubMed:15846473, PubMed:16455804). Contributes to the renal uptake of potent uremic toxins (indoxyl sulfate (IS), indole acetate (IA), hippurate/N-benzoylglycine (HA) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF)), pravastatin, PCG, E1S and dehydroepiandrosterone sulfate (DHEAS), and is partly involved in the renal uptake of temocaprilat (an angiotensin-converting enzyme (ACE) inhibitor) (PubMed:14675047). May contribute to the release of cortisol in the adrenals (PubMed:15864504). Involved in one of the detoxification systems on the choroid plexus (CP), removes substrates such as E1S or taurocholate (TC), PCG, 2,4-D and PAH, from the cerebrospinal fluid (CSF) to the blood for eventual excretion in urine and bile (By similarity). Also contributes to the uptake of several other organic compounds such as the prostanoids prostaglandin E(2) and prostaglandin F(2-alpha), L-carnitine, and the therapeutic drugs allopurinol, 6-mercaptopurine (6-MP) and 5-fluorouracil (5-FU) (By similarity). Mediates the transport of PAH, PCG, and the statins pravastatin and pitavastatin, from the cerebrum into the blood circulation across the blood-brain barrier (BBB). In summary, plays a role in the efflux of drugs and xenobiotics, helping reduce their undesired toxicological effects on the body (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Investigation of the arcane inhibition of human organic anion transporter 3 by benzofuran antiarrhythmic agents., [RefSeq, PubMed]; This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]., [RefSeq]",
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"secondary_ac_list": "B4DPH7;F5GWA8;F5H5J1;O95820;Q59EW9;Q96TC1",
"ec_number_list": [],
"go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0015132 prostaglandin transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane",
"go_biological_process": "GO:0006811 monoatomic ion transport;GO:0009636 response to toxic substance;GO:0015711 organic anion transport;GO:0015732 prostaglandin transport;GO:0150104 transport across blood-brain barrier",
"synthesized_glycan_count": 0,
"hit_score": 9.1,
"record_id": "Q8TCC7-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000",
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},
{
"uniprot_canonical_ac": "Q8TCU3-1",
"uniprot_id": [
{
"id": "S7A13_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TCU3",
"type": "external"
}
],
"mass": 52114.0,
"length": 470,
"protein_name": "Solute carrier family 7 member 13",
"gene_name": "SLC7A13",
"organism": "Human",
"refseq_name": "solute carrier family 7 member 13",
"refseq_ac": [
{
"id": "NP_620172",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_620172",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC7A13; AGT1; XAT2",
"gene_names_refseq": "AGT-1; AGT1; SLC7A13; XAT2",
"protein_names_uniprotkb": "Solute carrier family 7 member 13; Sodium-independent aspartate/glutamate transporter 1; X-amino acid transporter 2",
"protein_names_refseq": "X-amino acid transporter 2; amino acid transporter XAT2; sodium-independent aspartate/glutamate transporter 1; solute carrier family 7 (anionic amino acid transporter), member 13; solute carrier family 7 member 13; solute carrier family 7, (cationic amino acid transporter, y+ system) member 13",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:157724)",
"pathway_count": 1,
"publication_count": 5,
"publication_id_list": "11943479;24715725;28235644;29557506;35051231",
"class_list": "",
"function": "Associates with SLC3A1/rBAT to form a functional heterodimeric complex that transports anionic and neutral amino acids across the apical plasma membrane of renal epithelium. Preferentially mediates exchange transport, but can also operate via facilitated diffusion. May act as a major transporter for L-cystine in late proximal tubules, ensuring its reabsorption from the luminal fluid in exchange for cytosolic L-glutamate or L-aspartate., [UniProtKB, UniProtKB]; Data suggest that the cellular energetic deficit due to AGC1 impairment is associated with inappropriate aspartate levels to support neuronal proliferation when glutamine is not used as metabolic substrate, [RefSeq, PubMed]",
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"missing_score": 10000,
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"secondary_ac_list": "Q05C37;Q08AH9;Q96N84",
"ec_number_list": [],
"go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0046982 protein heterodimerization activity;GO:0015297 antiporter activity",
"go_cellular_component": "GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0015811 L-cystine transport;GO:0003333 amino acid transmembrane transport;GO:0015810 aspartate transmembrane transport;GO:0015813 L-glutamate transmembrane transport",
"synthesized_glycan_count": 0,
"hit_score": 0.6,
"record_id": "Q8TCU3-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96DD7-1",
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{
"id": "SHSA4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96DD7",
"type": "external"
}
],
"mass": 21522.0,
"length": 197,
"protein_name": "Protein shisa-4",
"gene_name": "SHISA4",
"organism": "Human",
"refseq_name": "protein shisa-4 precursor",
"refseq_ac": [
{
"id": "NP_937792",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_937792",
"type": "external"
}
],
"gene_names_uniprotkb": "SHISA4; C1orf40; PRO1153; TMEM58",
"gene_names_refseq": "C1orf40; SHISA4; TMEM58",
"protein_names_uniprotkb": "Protein shisa-4; Transmembrane protein 58",
"protein_names_refseq": "protein shisa-4 precursor; protein shisa-4; shisa homolog 4; transmembrane protein 58",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:149345)",
"pathway_count": 1,
"publication_count": 7,
"publication_id_list": "12975309;25645385;29557506;29786170;32161166;34932366;36675023",
"class_list": "",
"function": "New Transcriptomic Biomarkers of 5-Fluorouracil Resistance. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B4DFI0;B7ZAJ7;Q5VUU1;Q6P711;Q6UWY7",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0016020 membrane",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 0.8,
"record_id": "Q96DD7-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96JT2-1",
"uniprot_id": [
{
"id": "S45A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96JT2",
"type": "external"
}
],
"mass": 59323.0,
"length": 553,
"protein_name": "Solute carrier family 45 member 3",
"gene_name": "SLC45A3",
"organism": "Human",
"refseq_name": "solute carrier family 45 member 3",
"refseq_ac": [
{
"id": "NP_149093",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_149093",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC45A3; PCANAP6; PRST",
"gene_names_refseq": "IPCA-2; IPCA-6; IPCA-8; IPCA6; PCANAP2; PCANAP6; PCANAP8; PRST; SLC45A3",
"protein_names_uniprotkb": "Solute carrier family 45 member 3; Prostate cancer-associated protein 6; Prostein",
"protein_names_refseq": "prostate cancer associated protein 2; prostate cancer associated protein 6; prostate cancer associated protein 8; prostate cancer-associated gene 2; prostate cancer-associated gene 6; prostate cancer-associated gene 8; prostein; solute carrier family 45 member 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:85414); (R-HSA-189200)",
"pathway_count": 2,
"publication_count": 66,
"publication_id_list": "10821868;10860667;10970791;10987651;11133510;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;1415574;14614622;14739288;14997204;15033637;15048720;15176054;15607332;15902306;16154905;16482569;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;21107422;21940664;22212718;22521588;25892735;2656669;26650681;26938874;27700103;28218747;28228285;28832583;29769354;31844290;33045005;33298915;33392160;33717175;33912179;33968037;33981976;34099864;34357683;35051231;36215666;36581221;38218896;8457197;9354798;9751501",
"class_list": "",
"function": "CTCF has a role in regulating SLC45A3-ELK4 Chimeric RNA Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel autoimmune peptide epitope of prostein in prostate cancer has been reported., [RefSeq, PubMed]; Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancer., [RefSeq, PubMed]; Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. Publication Status: Online-Only, [RefSeq, PubMed]; Prostein expression in human tumors: a tissue microarray study on 19,202 tumors from 152 different Tumor entities. Publication Status: Online-Only, [RefSeq, PubMed]; Prostein is expressed in the vast majority of prostatic tissues, regardless of grade and metastatic status. No expression was detected in 4,700 normal and malignant tissue samples representing the great majority of essential tissues and tumors., [RefSeq, PubMed]; Proton-associated sucrose transporter. May be able to transport also glucose and fructose., [UniProtKB, UniProtKB]; T cells that recognize naturally processed epitopes from prostein were expanded from healthy donors and characterized. T cells isolated from males were of low avidity and recognized subdominant epitopes while those from females were of higher avidity, [RefSeq, PubMed]",
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"secondary_ac_list": "A8K2U9",
"ec_number_list": [],
"go_molecular_function": "GO:0051119 sugar transmembrane transporter activity;GO:0008506 sucrose:proton symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0010907 positive regulation of glucose metabolic process;GO:0045723 positive regulation of fatty acid biosynthetic process;GO:0015770 sucrose transport;GO:0048713 regulation of oligodendrocyte differentiation;GO:0008645 hexose transmembrane transport",
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"filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96KT7-1",
"uniprot_id": [
{
"id": "S35G5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96KT7",
"type": "external"
}
],
"mass": 35161.0,
"length": 338,
"protein_name": "Solute carrier family 35 member G5",
"gene_name": "SLC35G5",
"organism": "Human",
"refseq_name": "solute carrier family 35 member G5",
"refseq_ac": [
{
"id": "NP_473369",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_473369",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC35G5; AMAC1L2; AMAC",
"gene_names_refseq": "AMAC1L2; AMAC; SLC35G5",
"protein_names_uniprotkb": "Solute carrier family 35 member G5; Acyl-malonyl-condensing enzyme 1-like protein 2",
"protein_names_refseq": "acyl-malonyl condensing enzyme 1-like 2; acyl-malonyl-condensing enzyme 1-like protein 2; protein AMAC1L2; solute carrier family 35 member G5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:83650)",
"pathway_count": 1,
"publication_count": 6,
"publication_id_list": "11896452;17101974;19060906;20160193;20972250;33298915",
"class_list": "",
"function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011]., [RefSeq]",
"predicted_glycosites": 0,
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"secondary_ac_list": "A2RRL6",
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"record_id": "Q96KT7-1",
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"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9C0K1-1",
"uniprot_id": [
{
"id": "S39A8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9C0K1",
"type": "external"
}
],
"mass": 49631.0,
"length": 460,
"protein_name": "Metal cation symporter ZIP8",
"gene_name": "SLC39A8",
"organism": "Human",
"refseq_name": "metal cation symporter ZIP8 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001128618",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128618",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC39A8; BIGM103; PP3105; ZIP8",
"gene_names_refseq": "BIGM103; CDG2N; LZT-Hs6; PP3105; SLC39A8; ZIP8",
"protein_names_uniprotkb": "Metal cation symporter ZIP8; BCG-induced integral membrane protein in monocyte clone 103 protein; LIV-1 subfamily of ZIP zinc transporter 6; LZT-Hs6; Solute carrier family 39 member 8; ZIP-8; Zrt- and Irt-like protein 8",
"protein_names_refseq": "BCG induced integral membrane protein BIGM103; BCG-induced integral membrane protein in monocyte clone 103 protein; LIV-1 subfamily of ZIP zinc transporter 6; ZIP-8; ZRT/IRT-like protein 8; Zinc transporter 8; Zrt- and Irt-like protein 8; metal cation symporter ZIP8 isoform a precursor; metal cation symporter ZIP8; solute carrier family 39 (metal ion transporter), member 8; zinc transporter ZIP8",
"tax_id": 9606,
"disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); left ventricular noncompaction (Disease Ontology:DOID:0060480); congenital disorder of glycosylation type IIn (Disease Ontology:DOID:0070266)",
"pathway": " (hsa:64116); (R-HSA-442380)",
"pathway_count": 2,
"publication_count": 93,
"publication_id_list": "10.1101/2023.09.13.557529;10364181;10610721;10681536;11237011;11301334;12032886;12068297;12504855;12839489;14525538;15322118;15498874;15642354;16083285;16638970;16804107;17359283;17550612;18003899;18390834;19265717;19401385;19413330;19755388;22898811;23403290;24366607;26637978;26637979;26992070;27166256;27466201;27492617;27995398;28056086;28218747;28228285;28467828;28481222;28510447;28832583;28834231;28904123;29242379;29337306;29393594;29437277;29453449;29508533;29557506;29769354;29786170;29927450;30315122;30429286;30573663;30779550;30833945;31020640;31217245;31699897;31844290;32157095;32161166;32350084;32357974;32502341;32897876;32897882;32938616;32983136;33043033;33139556;33298915;33392160;33936100;33968037;34171305;34357683;34433824;34932366;35051231;35154160;35580925;35642632;35787370;36010968;36284347;37938771;38103342;38309537;38687342",
"class_list": "",
"function": "Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells., [RefSeq, PubMed]; Deficiency in the zinc transporter ZIP8 impairs epithelia renewal and enhances lung fibrosis., [RefSeq, PubMed]; Does SLC39A8 Ala391Thr Confer Risk of Chronic Liver Disease?, [RefSeq, PubMed]; Electroneutral divalent metal cation:bicarbonate symporter of the plasma membrane mediating the cellular uptake of zinc and manganese, two divalent metal cations important for development, tissue homeostasis and immunity (PubMed:12504855, PubMed:22898811, PubMed:23403290, PubMed:26637978, PubMed:29337306, PubMed:29453449). Transports an electroneutral complex composed of a divalent metal cation and two bicarbonate anions or alternatively a bicarbonate and a selenite anion (PubMed:27166256, PubMed:31699897). Thereby, it also contributes to the cellular uptake of selenium, an essential trace metal and micronutrient (PubMed:27166256). Also imports cadmium a non-essential metal which is cytotoxic and carcinogenic (PubMed:27466201). May also transport iron and cobalt through membranes (PubMed:22898811). Through zinc import, indirectly regulates the metal-dependent transcription factor MTF1 and the expression of some metalloproteases involved in cartilage catabolism and also probably heart development (PubMed:29337306). Also indirectly regulates the expression of proteins involved in cell morphology and cytoskeleton organization (PubMed:29927450). Indirectly controls innate immune function and inflammatory response by regulating zinc cellular uptake which in turn modulates the expression of genes specific of these processes (PubMed:23403290, PubMed:28056086). Protects, for instance, cells from injury and death at the onset of inflammation (PubMed:18390834). By regulating zinc influx into monocytes also directly modulates their adhesion to endothelial cells and arteries (By similarity). Reclaims manganese from the bile at the apical membrane of hepatocytes, thereby regulating the activity of the manganese-dependent enzymes through the systemic levels of the nutrient (PubMed:28481222). Also participates in manganese reabsorption in the proximal tubule of the kidney (PubMed:26637978). By mediating the extracellular uptake of manganese by cells of the blood-brain barrier, may also play a role in the transport of the micronutrient to the brain (PubMed:26637978, PubMed:31699897). With manganese cellular uptake also participates in mitochondrial proper function (PubMed:29453449). Finally, also probably functions intracellularly, translocating zinc from lysosome to cytosol to indirectly enhance the expression of specific genes during TCR-mediated T cell activation (PubMed:19401385)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of ZIP8-induced ferroptosis as a major type of cell death in monocytes under sepsis conditions., [RefSeq, PubMed]; Targeting ZIP8 mediated ferroptosis as a novel strategy to protect against the retinal pigment epithelial degeneration., [RefSeq, PubMed]; This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]., [RefSeq]",
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"secondary_ac_list": "B4E2H3;Q96SM9;Q9BVC0;Q9NSA4",
"ec_number_list": [],
"go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0140412 zinc:bicarbonate symporter activity;GO:0140410 monoatomic cation:bicarbonate symporter activity;GO:0046873 metal ion transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane;GO:0031090 organelle membrane",
"go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0030198 extracellular matrix organization;GO:0042391 regulation of membrane potential;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 9.8,
"record_id": "Q9C0K1-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H1V8-1",
"uniprot_id": [
{
"id": "S6A17_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H1V8",
"type": "external"
}
],
"mass": 81001.0,
"length": 727,
"protein_name": "Sodium-dependent neutral amino acid transporter SLC6A17",
"gene_name": "SLC6A17",
"organism": "Human",
"refseq_name": "sodium-dependent neutral amino acid transporter SLC6A17",
"refseq_ac": [
{
"id": "NP_001010898",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010898",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC6A17; NTT4",
"gene_names_refseq": "MRT48; NTT4; SLC6A17",
"protein_names_uniprotkb": "Sodium-dependent neutral amino acid transporter SLC6A17; Sodium-dependent neurotransmitter transporter NTT4; Solute carrier family 6 member 17",
"protein_names_refseq": "neurotransmitter transporter 4; orphan sodium- and chloride-dependent neurotransmitter transporter NTT4; sodium-dependent neutral amino acid transporter SLC6A17",
"tax_id": 9606,
"disease": "autosomal recessive intellectual developmental disorder 48 (Disease Ontology:DOID:0081212)",
"pathway": " (hsa:388662)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "10.1101/2023.09.13.557529;16125675;19147495;25704603;31154438;32938616;35051231;37217939;38253038",
"class_list": "",
"function": "Our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability., [RefSeq, PubMed]; Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]., [RefSeq]; The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine., [RefSeq, PubMed]",
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"secondary_ac_list": "A6NEA8;A8K1R7;B9EIR5;Q5T5Q9",
"ec_number_list": [],
"go_molecular_function": "GO:0015293 symporter activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098794 postsynapse",
"go_biological_process": "GO:0015816 glycine transport;GO:0015820 L-leucine transport;GO:0015824 proline transport;GO:0032328 alanine transport;GO:0007420 brain development",
"synthesized_glycan_count": 0,
"hit_score": 1.7,
"record_id": "Q9H1V8-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9HAS3-1",
"uniprot_id": [
{
"id": "S28A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HAS3",
"type": "external"
}
],
"mass": 76930.0,
"length": 691,
"protein_name": "Solute carrier family 28 member 3",
"gene_name": "SLC28A3",
"organism": "Human",
"refseq_name": "solute carrier family 28 member 3",
"refseq_ac": [
{
"id": "NP_001186562",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186562",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC28A3; CNT3",
"gene_names_refseq": "CNT3; SLC28A3",
"protein_names_uniprotkb": "Solute carrier family 28 member 3; CNT 3; Concentrative Na(+)-nucleoside cotransporter 3; hCNT3",
"protein_names_refseq": "concentrative Na(+)-nucleoside cotransporter 3; concentrative Na+-nucleoside cotransporter; solute carrier family 28 (concentrative nucleoside transporter), member 3; solute carrier family 28 (sodium-coupled nucleoside transporter), member 3; solute carrier family 28 member 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:64078); (R-HSA-83936); (R-HSA-9748787); (R-HSA-9755088)",
"pathway_count": 4,
"publication_count": 97,
"publication_id_list": "10.1101/2023.09.13.557529;10455109;10840050;11032837;11809823;12435799;12499231;12606760;12697733;14504928;15448143;15701636;15738947;15747503;15850391;15861032;15861042;15870078;15917509;16265592;16446384;16530731;16717136;16873718;17140564;17301077;17412768;17993510;17996297;18635603;18827020;18940313;18981177;19164483;19368893;197968;20096989;20173735;20216118;20486858;20504255;211390;21396942;2159925;21723252;21795683;21998139;22444596;23096567;23816837;24107682;24824603;24911211;24957263;24974183;25576301;26238318;2648994;2737800;280136;29393594;29482072;29557506;29580856;29632711;30045981;30716294;30987408;31520644;32357974;32776918;32938616;33910126;33974709;34751688;35051231;37828659;38253038;39894887;5767308;5840415;5857365;657528;6989049;8226881;8626464;8670112;8986748;9099726;9124315;9132023;942489;9435697;9478986;9587671;9605565;9647364",
"class_list": "",
"function": "Allosteric and transport modulation of human concentrative nucleoside transporter 3 at the atomic scale. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters., [RefSeq, PubMed]; Cryo-EM structure of the human concentrative nucleoside transporter CNT3. Publication Status: Online-Only, [RefSeq, PubMed]; Examination of single nucleotide polymorphisms in the coding regions of the hCNT3 gene, [RefSeq, PubMed]; Gene-Gene Interactions of Gemcitabine Metabolizing-Enzyme Genes hCNT3 and WEE1 for Preventing Severe Gemcitabine-Induced Hematological Toxicity., [RefSeq, PubMed]; Genetic analysis and functional characterization of CNT3 variants suggest that this transporter does not tolerate nonsynonymous changes and is important for human fitness, [RefSeq, PubMed]; HCNT3 gene is evolutionarily conserved with hCNT1 and hCNT2. Physiologically, hCNT3 is a glycoprotein, which transports purine and pyrimidine nucleosides in a Na-dependent manner with high affinities., [RefSeq, PubMed]; HCNT3 possesses two Na+-binding sites, only one of which is shared by H+, [RefSeq, PubMed]; Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]., [RefSeq]; Sodium-dependent, pyrimidine- and purine-selective (PubMed:11032837, PubMed:15861042, PubMed:16446384, PubMed:17140564, PubMed:21998139). Involved in the homeostasis of endogenous nucleosides (PubMed:11032837, PubMed:15861042). Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine) (PubMed:11032837). Employs a 2:1 sodium/nucleoside ratio (PubMed:11032837). Transports uridine (PubMed:21795683). Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine (PubMed:11032837, PubMed:17140564)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors., [RefSeq, PubMed]",
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"reported_mutagensis": 1,
"reported_glycation": 0,
"reported_snv": 22,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 2,
"disease_count": 0,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K9Y4;B1AML0;B2RA51;B4E2S8;F5GYE3",
"ec_number_list": [],
"go_molecular_function": "GO:0015213 uridine transmembrane transporter activity;GO:0005345 purine nucleobase transmembrane transporter activity;GO:0005415 nucleoside:sodium symporter activity;GO:0015389 pyrimidine- and adenosine-specific:sodium symporter activity;GO:0015390 purine-specific nucleoside:sodium symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031526 brush border membrane",
"go_biological_process": "GO:0015860 purine nucleoside transmembrane transport;GO:0015862 uridine transmembrane transport;GO:0006805 xenobiotic metabolic process;GO:0006855 xenobiotic transmembrane transport;GO:0015864 pyrimidine nucleoside transport",
"synthesized_glycan_count": 0,
"hit_score": 10.3,
"record_id": "Q9HAS3-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NQ40-1",
"uniprot_id": [
{
"id": "S52A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NQ40",
"type": "external"
}
],
"mass": 50805.0,
"length": 469,
"protein_name": "Solute carrier family 52, riboflavin transporter, member 3",
"gene_name": "SLC52A3",
"organism": "Human",
"refseq_name": "solute carrier family 52, riboflavin transporter, member 3",
"refseq_ac": [
{
"id": "NP_212134",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_212134",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC52A3; C20orf54; RFT2; RFVT3",
"gene_names_refseq": "BVVLS1; BVVLS; C20orf54; RFT2; RFVT3; SLC52A3; bA371L19.1; hRFT2",
"protein_names_uniprotkb": "Solute carrier family 52, riboflavin transporter, member 3; Riboflavin transporter 2; hRFT2",
"protein_names_refseq": "SLC52A3a; SLC52A3b; riboflavin transporter 2; solute carrier family 52 (riboflavin transporter), member 3; solute carrier family 52, riboflavin transporter, member 3",
"tax_id": 9606,
"disease": "Brown-Vialetto-Van Laere syndrome (Disease Ontology:DOID:0050694); Fazio-Londe disease (Disease Ontology:DOID:0080632); Brown-Vialetto-Van Laere syndrome 1 (Disease Ontology:DOID:0080785)",
"pathway": " (hsa:113278); (R-HSA-196843)",
"pathway_count": 2,
"publication_count": 39,
"publication_id_list": "10.1074/mcp.M114.046862;11237011;12623014;16643857;18632736;19122205;20206331;20463145;20724488;20729853;20920669;21110228;21512156;22273710;22633641;22718020;22824638;24264046;25576301;25813380;27702554;2775236;28637675;29242379;29428966;29557506;30459171;30779550;31154438;33189404;33968037;34171305;34185709;34223992;34384672;35051231;35580925;36284347;8001561",
"class_list": "",
"function": "BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes., [RefSeq, PubMed]; Discusses cloning of rat riboflavin transporter 2 and identification of a comparable protein in human., [RefSeq, PubMed]; Identified a candidate gene, C20orf54, in a consanguineous family with Brown-Vialetto-Van Laere syndrome with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families, [RefSeq, PubMed]; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Promotion of rs3746804 (p. L267P) polymorphism to intracellular SLC52A3a trafficking and riboflavin transportation in esophageal cancer cells., [RefSeq, PubMed]; Results indicate that riboflavin transporter 2(RFT2) is a transporter involved in the epithelial uptake of riboflavin in the small intestine for its nutritional utilization, [RefSeq, PubMed]; Susceptibility loci at C20orf54 for esophageal squamous cell carcinoma. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2014 Sep;46(9):1041], [RefSeq, PubMed]; This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]., [RefSeq]; Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"total_reported_n_glycosites": 2,
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"total_n_glycosites": 2,
"total_o_glycosites": 2,
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"reported_mutagensis": 5,
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"reported_snv": 19,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 2,
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"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "A0A2I6BQ49;A8K6P1;K0A6P4;Q5W1A0;Q5W1A1;Q8NCL7;Q96GD5",
"ec_number_list": [],
"go_molecular_function": "GO:0032217 riboflavin transmembrane transporter activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0007605 sensory perception of sound;GO:0032218 riboflavin transport;GO:0006771 riboflavin metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 4.6,
"record_id": "Q9NQ40-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9ULL8-1",
"uniprot_id": [
{
"id": "SHRM4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9ULL8",
"type": "external"
}
],
"mass": 164857.0,
"length": 1493,
"protein_name": "Protein Shroom4",
"gene_name": "SHROOM4",
"organism": "Human",
"refseq_name": "protein Shroom4",
"refseq_ac": [
{
"id": "NP_065768",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065768",
"type": "external"
}
],
"gene_names_uniprotkb": "SHROOM4; KIAA1202; SHAP",
"gene_names_refseq": "MRXSSDS; SHAP; SHROOM4; shrm4",
"protein_names_uniprotkb": "Protein Shroom4; Second homolog of apical protein",
"protein_names_refseq": "protein Shroom4; second homolog of apical protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57477)",
"pathway_count": 1,
"publication_count": 23,
"publication_id_list": "16249884;16615870;16684770;18077418;24700572;25576301;26522270;26740508;27600516;27862975;28262662;29393594;29557506;29786170;30379171;30429286;32157095;32387766;32938616;35051231;35580925;36379543;37217939",
"class_list": "",
"function": "Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity)., [UniProtKB, PubMed]; Shrm4 interaction with GABA-B receptors shapes inhibitory neurotransmission. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]., [RefSeq]; X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems., [RefSeq, PubMed]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
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"reported_snv": 37,
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"biomarker_type": "",
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"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "A7E2X9;D6RFW0;Q96LA0",
"ec_number_list": [],
"go_molecular_function": "GO:0045159 myosin II binding;GO:0051015 actin filament binding",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0005912 adherens junction",
"go_biological_process": "GO:0007015 actin filament organization;GO:0050890 cognition;GO:0030036 actin cytoskeleton organization;GO:0007420 brain development;GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels",
"synthesized_glycan_count": 0,
"hit_score": 2.6,
"record_id": "Q9ULL8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UN76-1",
"uniprot_id": [
{
"id": "S6A14_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UN76",
"type": "external"
}
],
"mass": 72153.0,
"length": 642,
"protein_name": "Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)",
"gene_name": "SLC6A14",
"organism": "Human",
"refseq_name": "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)",
"refseq_ac": [
{
"id": "NP_009162",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009162",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC6A14",
"gene_names_refseq": "BMIQ11; SLC6A14",
"protein_names_uniprotkb": "Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+); Amino acid transporter ATB0+; Solute carrier family 6 member 14",
"protein_names_refseq": "amino acid transporter ATB0+; amino acid transporter B0+; sodium- and chloride-dependent neutral and basic amino acid transporter B(0+); solute carrier family 6 (amino acid transporter), member 14; solute carrier family 6 (neurotransmitter transporter), member 14",
"tax_id": 9606,
"disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); osteoporosis (Disease Ontology:DOID:11476); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); male infertility (Disease Ontology:DOID:12336); exocrine pancreatic insufficiency (Disease Ontology:DOID:13316); cystic fibrosis (Disease Ontology:DOID:1485); gastrointestinal system disease (Disease Ontology:DOID:77); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:11254); (R-HSA-352230); (R-HSA-442660); (R-HSA-5619094)",
"pathway_count": 4,
"publication_count": 77,
"publication_id_list": "10358010;10391915;10446133;10485994;10684912;10698697;10823827;10863037;10889531;10891391;10903140;10930503;10973981;11243884;11278508;11318953;11342143;11417227;11591158;11698620;11827462;11897791;12115694;12151341;12202949;12527723;12809675;12930836;14660737;14660752;15151999;15286787;15286788;15331564;15592994;15632147;15659399;15905073;15918515;16226721;16751771;17502375;17726476;17855766;18195088;18599538;2008212;21097500;23481700;2387399;24652292;24715725;26992070;29557506;29741879;31844290;34087483;35065708;35580925;35865664;36272033;38267509;38314135;7589472;7651355;7874447;8010975;8101838;8125921;8183239;8340364;8632143;8702519;8910405;9174363;9845349;9878049",
"class_list": "",
"function": "A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus., [RefSeq, PubMed]; Amino acid transporter that plays an important role in the absorption of amino acids in the intestinal tract. Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner (PubMed:10446133). Transports non-alpha-amino acids such as beta-alanine with low affinity, and has a higher affinity for dipolar and cationic amino acids such as leucine and lysine (PubMed:18599538). Can also transport carnitine, butirylcarnitine and propionylcarnitine coupled to the transmembrane gradients of Na(+) and Cl(-) (PubMed:17855766)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Association of the SLC6A14 gene locus with obesity. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Diabetes. 2005 Feb;54(2):587], [RefSeq, PubMed]; Machine learning identifies SLC6A14 as a novel biomarker promoting the proliferation and metastasis of pancreatic cancer via Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; SLC6A14 Depletion Contributes to Amino Acid Starvation to Suppress EMT-Induced Metastasis in Gastric Cancer by Perturbing the PI3K/AKT/mTORC1 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SLC6A14 facilitates epithelial cell ferroptosis via the C/EBPbeta-PAK6 axis in ulcerative colitis. Publication Status: Online-Only, [RefSeq, PubMed]; SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis., [RefSeq, PubMed]; The up-regulation of SLC6A14 may have a pathogenic role in colorectal neoplasms., [RefSeq, PubMed]; This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]., [RefSeq]",
"predicted_glycosites": 5,
"predicted_n_glycosites": 5,
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"reported_snv": 25,
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"missing_score": 8836,
"biomarker_type": "",
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"secondary_ac_list": "Q5H942",
"ec_number_list": [],
"go_molecular_function": "GO:0015171 amino acid transmembrane transporter activity;GO:0015173 aromatic amino acid transmembrane transporter activity;GO:0022858 alanine transmembrane transporter activity;GO:1901235 (R)-carnitine transmembrane transporter activity;GO:0001761 beta-alanine transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031982 vesicle",
"go_biological_process": "GO:0032328 alanine transport;GO:0009636 response to toxic substance;GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0003333 amino acid transmembrane transport",
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"hit_score": 8.4,
"record_id": "Q9UN76-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "TX13C_HUMAN",
"url": "https://www.uniprot.org/uniprot/A0A0J9YWL9",
"type": "external"
}
],
"mass": 109806.0,
"length": 993,
"protein_name": "Testis-expressed protein 13C",
"gene_name": "TEX13C",
"organism": "Human",
"refseq_name": "testis-expressed protein 13C",
"refseq_ac": [
{
"id": "NP_001182201",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182201",
"type": "external"
}
],
"gene_names_uniprotkb": "TEX13C",
"gene_names_refseq": "TEX13C",
"protein_names_uniprotkb": "Testis-expressed protein 13C",
"protein_names_refseq": "putative testis-expressed protein 13C; testis expressed sequence 13-like; testis-expressed protein 13C; testis-expressed sequence 13C protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:100129520)",
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},
{
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{
"id": "UBP27_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6NNY8",
"type": "external"
}
],
"mass": 49630.0,
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"protein_name": "Ubiquitin carboxyl-terminal hydrolase 27",
"gene_name": "USP27X",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 27",
"refseq_ac": [
{
"id": "NP_001138545",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138545",
"type": "external"
}
],
"gene_names_uniprotkb": "USP27X; USP22L; USP27",
"gene_names_refseq": "MRX105; USP22L; USP27X; USP27; XLID105",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 27; 3.4.19.12; Deubiquitinating enzyme 27; Ubiquitin carboxyl-terminal hydrolase 22-like; Ubiquitin thioesterase 27; Ubiquitin-specific-processing protease 27; X-linked ubiquitin carboxyl-terminal hydrolase 27",
"protein_names_refseq": "X-linked ubiquitin carboxyl-terminal hydrolase 27; deubiquitinating enzyme 27; ubiquitin carboxyl-terminal hydrolase 27; ubiquitin specific protease 27, X chromosome; ubiquitin thioesterase 27; ubiquitin-specific-processing protease 27",
"tax_id": 9606,
"disease": "non-syndromic X-linked intellectual disability 105 (Disease Ontology:DOID:0112036); glioblastoma (Disease Ontology:DOID:3068)",
"pathway": " (hsa:389856)",
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"publication_id_list": "12838346;22544926;25469497;25576301;25644381;27013495;27132940;27846572;29497124;30341066;30429286;31154438;31534008;31844290;32027733;32161166;32357974;32387766;32488085;33141586;33968037;35018513;35044632;38030604;38182161",
"class_list": "",
"function": "ATXN7L3 and ENY2 orchestrate activities of multiple deubiquitinating enzymes, including USP27x and USP51, and that imbalances in these activities likely potentiate human diseases including cancer., [RefSeq, PubMed]; Data found that USP27 promotes Cyclin E stability by negatively regulating its ubiquitination and regulates its abundance to accelerate cell cycle progression, cell proliferation, and hepatocellular carcinoma cell growth as well., [RefSeq, PubMed]; Deubiquitinase involved in innate antiviral immunity by mediating deubiquitination of CGAS and RIGI (PubMed:31534008, PubMed:32027733). Negatively regulates RIGI by mediating 'Lys-63'-linked deubiquitination of RIGI, inhibiting type I interferon signaling (PubMed:32027733). Also regulates 'Lys-63'-linked ubiquitination level of MDA5/IFIH1 (PubMed:32027733). Acts as a positive regulator of the cGAS-STING pathway by catalyzing 'Lys-48'-linked deubiquitination of CGAS, thereby promoting its stabilization (PubMed:31534008). Can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal (By similarity). By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; High USP27X expression is associated with Chemoresistance in breast cancer by Stabilization of Snail1., [RefSeq, PubMed]; Phosphorylation of USP27X by GSK3beta maintains the stability and oncogenic functions of CBX2. Publication Status: Online-Only, [RefSeq, PubMed]; Stabilization of SETD3 by deubiquitinase USP27 enhances cell proliferation and hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The deubiquitinase Usp27x as a novel regulator of cFLIPL protein expression and sensitizer to death-receptor-induced apoptosis., [RefSeq, PubMed]; This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]., [RefSeq]; USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; Usp27x can trigger via its proteolytic activity the deubiquitination of Bim and enhance its levels, counteracting the anti-apoptotic effects of ERK activity, and therefore acts as a tumour suppressor., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol",
"go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0051607 defense response to virus",
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},
{
"uniprot_canonical_ac": "Q8WUA8-1",
"uniprot_id": [
{
"id": "TSK_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WUA8",
"type": "external"
}
],
"mass": 37807.0,
"length": 353,
"protein_name": "Tsukushi",
"gene_name": "TSKU",
"organism": "Human",
"refseq_name": "tsukushi isoform b precursor",
"refseq_ac": [
{
"id": "NP_001245139",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245139",
"type": "external"
}
],
"gene_names_uniprotkb": "TSKU; E2IG4; LRRC54; PRO1788; TSK",
"gene_names_refseq": "E2IG4; LRRC54; TSKU; TSK",
"protein_names_uniprotkb": "Tsukushi; E2-induced gene 4 protein; Leucine-rich repeat-containing protein 54",
"protein_names_refseq": "E2-induced gene 4 protein; leucine rich repeat containing 54; leucine-rich repeat-containing protein 54; tsukushi homolog; tsukushi isoform b precursor; tsukushi small leucine rich proteoglycan homolog; tsukushin",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:25987)",
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"publication_count": 28,
"publication_id_list": "10.1038/emboj.2013.79;11085516;11237011;12975309;16303743;22880013;23584533;29393594;29557506;30232710;30833945;31391339;31844290;32350084;32387766;32442908;32983136;33117292;33592498;33759220;33860453;33968037;34087483;34171305;35051231;35251023;36215666;36241641",
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"function": "Contributes to various developmental events and other processes such as wound healing and cholesterol homeostasis through its interactions with multiple signaling pathways. Wnt signaling inhibitor which competes with WNT2B for binding to Wnt receptor FZD4 and represses WNT2B-dependent development of the peripheral eye. Plays a role in regulating the hair cycle by controlling TGFB1 signaling. Required for the development of the anterior commissure in the brain by inhibiting neurite outgrowth. Essential for terminal differentiation of hippocampal neural stem cells. Plays a role in regulating bone elongation and bone mass by modulating growth plate chondrocyte function and overall body size. Required for development of the inner ear through its involvement in stereocilia formation in inner hair cells. Facilitates wound healing by inhibiting secretion of TGFB1 from macrophages which prevents myofibroblast differentiation, maintaining inflammatory cell quiescence. Plays a role in cholesterol homeostasis by reducing circulating high-density lipoprotein cholesterol, lowering cholesterol efflux capacity and decreasing cholesterol-to-bile acid conversion in the liver. In one study, shown to negatively regulate sympathetic innervation in brown fat, leading to reduced energy expenditure. In another study, shown not to affect brown fat thermogenic capacity, body weight gain or glucose homeostasis., [UniProtKB, UniProtKB]; Elevated Serum Tsukushi Levels in Patients With Hyperthyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; Gastric banding-associated weight loss diminishes hepatic Tsukushi expression., [RefSeq, PubMed]; Novel roles of Tsukushi in signaling pathways and multiple disease processes. Review article, [RefSeq, PubMed]; The hepatokine Tsukushi is released in response to NAFLD and impacts cholesterol homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; The spatio-temporal expression of Decorin, Semaphorin6D, SPARC, Spry-1 and Tsukushi in developing prostate is described and observed similar mesenchymal expression patterns in rat and human., [RefSeq, PubMed]; Tsukushi and TSKU genotype in obesity and related metabolic disorders., [RefSeq, PubMed]",
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"secondary_ac_list": "B3KQT7;Q6UXK1;Q9UG10;Q9UJX9",
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"go_molecular_function": "GO:0050431 transforming growth factor beta binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0140150 gel phase of interstitial matrix;GO:0005576 extracellular region",
"go_biological_process": "GO:1904761 negative regulation of myofibroblast differentiation;GO:0008203 cholesterol metabolic process;GO:0021766 hippocampus development;GO:0097009 energy homeostasis;GO:0010977 negative regulation of neuron projection development",
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},
{
"uniprot_canonical_ac": "O43818-1",
"uniprot_id": [
{
"id": "U3IP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O43818",
"type": "external"
}
],
"mass": 51841.0,
"length": 475,
"protein_name": "U3 small nucleolar RNA-interacting protein 2",
"gene_name": "RRP9",
"organism": "Human",
"refseq_name": "U3 small nucleolar RNA-interacting protein 2",
"refseq_ac": [
{
"id": "NP_004695",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004695",
"type": "external"
}
],
"gene_names_uniprotkb": "RRP9; RNU3IP2; U355K",
"gene_names_refseq": "RNU3IP2; RRP9; U3-55K",
"protein_names_uniprotkb": "U3 small nucleolar RNA-interacting protein 2; RRP9 homolog; U3 small nucleolar ribonucleoprotein-associated 55 kDa protein; U3 snoRNP-associated 55 kDa protein; U3-55K",
"protein_names_refseq": "RNA, U3 small nucleolar interacting protein 2; RRP9 homolog; RRP9, small subunit (SSU) processome component, homolog; U3 small nucleolar RNA-interacting protein 2; U3 small nucleolar ribonucleoprotein-associated 55 kDa protein; U3 snoRNP-associated 55-kDa protein; ribosomal RNA processing 9, small subunit (SSU) processome component, homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9136); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
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"publication_id_list": "10606270;10982864;11081632;11922599;11935223;11978965;12032086;12068309;12150911;12381732;12417735;12429849;15199136;16037817;16043514;16381836;16738141;16782898;16959974;17081983;17189298;17353269;17412707;17636026;18065403;18438418;18452278;18669648;19007248;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19651622;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24129315;24424021;24550520;25411247;25418920;25525153;25653167;25851604;25969445;26085946;26196125;26237581;26867678;27084949;28063628;28228285;28832583;29242379;29393594;29508533;29632046;30429286;30833945;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32938616;33214551;33298915;33592498;33717175;33968037;33981976;34087483;34509645;34516797;34561969;34662580;35580925;36010968;37904456;37988222;38665916;40914422;9211966;9418896;9482744;9512526",
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"function": "Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA (pre-rRNA) (PubMed:26867678). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed]; Joint effect of RRP9 and DDX21 on development of colorectal cancer and keloid., [RefSeq, PubMed]; Mammalian and yeast U3 snoRNPs are matured in specific and related nuclear compartments., [RefSeq, PubMed]; Neddylation modification of the U3 snoRNA-binding protein RRP9 by Smurf1 promotes tumorigenesis. Erratum:[J Biol Chem. 2022 Nov;298(11):102567. doi: 10.1016/j.jbc.2022.102567. PMID: 36270201], [RefSeq, PubMed]; RRP9 and DDX21 as new biomarkers of colorectal cancer., [RefSeq, PubMed]; This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]., [RefSeq]",
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"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0031428 box C/D methylation guide snoRNP complex;GO:0032040 small-subunit processome",
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},
{
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],
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"protein_name": "Hsp70/Hsp90 co-chaperone CNS1 homolog",
"gene_name": "TTC4",
"organism": "Human",
"refseq_name": "hsp70/Hsp90 co-chaperone CNS1 homolog isoform 1",
"refseq_ac": [
{
"id": "NP_004614",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004614",
"type": "external"
}
],
"gene_names_uniprotkb": "TTC4; My044",
"gene_names_refseq": "CNS1; TTC4",
"protein_names_uniprotkb": "Hsp70/Hsp90 co-chaperone CNS1 homolog; TPR repeat protein 4; Tetratricopeptide repeat protein 4",
"protein_names_refseq": "TPR repeat protein 4; hsp70/Hsp90 co-chaperone CNS1 homolog isoform 1; hsp70/Hsp90 co-chaperone CNS1 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7268)",
"pathway_count": 1,
"publication_count": 59,
"publication_id_list": "18320024;18669648;20068231;23186163;24715725;25418920;25576301;25645385;25892735;26154972;27600516;27862975;27920218;28218747;28510447;28514659;28832583;28834231;28904123;29242379;29251827;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30876805;31844290;32157095;32357974;32488085;32502341;32938616;32983136;33000523;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34211107;34229054;34357683;34932366;35051231;35580925;36241641;37938771;40914422;9933562",
"class_list": "",
"function": "Co-chaperone that recruits molecular chaperones Hsp90 (HSC82 and HSP82) and Hsp70 (SSA1) to nascent polypeptides, facilitating their proper folding into functional proteins (PubMed:18320024). Client proteins include eukaryotic elongation factor eEF2, a key player in cellular translation. Stimulates SSA1 ATPase activity, but not Hsp90 ATPase activity (By similarity). Promotes Sendai virus (SeV)-induced host cell innate immune responses (PubMed:29251827)., [UniProtKB, PubMed, PubMed, UniProtKB]; Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells., [RefSeq, PubMed]; Study identified TTC4 as a TBK1 interactor and positive regulator of Sendai virus-induced innate immunity., [RefSeq, PubMed]; TTC4 is highly expressed in malignant melanoma Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]., [RefSeq]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0045111 intermediate filament cytoskeleton",
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},
{
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{
"id": "UD2B4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P06133",
"type": "external"
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],
"mass": 60513.0,
"length": 528,
"protein_name": "UDP-glucuronosyltransferase 2B4",
"gene_name": "UGT2B4",
"organism": "Human",
"refseq_name": "UDP-glucuronosyltransferase 2B4 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001284544",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284544",
"type": "external"
}
],
"gene_names_uniprotkb": "UGT2B4; UGT2B11",
"gene_names_refseq": "HLUG25; UDPGT2B4; UDPGTH1; UDPGTh-1; UGT2B11; UGT2B4",
"protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B4; 2.4.1.17; HLUG25; Hyodeoxycholic acid-specific UDPGT; UDPGT 2B4; UDPGTh-1; UGT2B4",
"protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide B4; UDP-glucuronosyltransferase 2B4 isoform 2 precursor; UDP-glucuronosyltransferase 2B4; UDP-glucuronyltransferase, family 2, beta-4; UDPGT 2B4; hyodeoxycholic acid-specific UDPGT; hyodeoxycholic acid",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7363); (R-HSA-156588); (R-HSA-9749641)",
"pathway_count": 3,
"publication_count": 62,
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"class_list": "glycogene;glycosyltransferase",
"function": "Absence of significant association between UGT2B4 genetic variants and the susceptibility to anti-tuberculosis drug-induced liver injury in a Western Chinese population., [RefSeq, PubMed]; Clopidogrel carboxylic acid is metabolized mainly by UGT2B7 and UGT2B4 in the liver and by UGT2B17 in the small intestinal wall., [RefSeq, PubMed]; Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan. Publication Status: Online-Only, [RefSeq, PubMed]; These data indicate that knocking down PAPSS increases UGT2B4 transcription and mRNA stability as a compensatory response to the loss of SULT2A1 activity, [RefSeq, PubMed]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18719240, PubMed:23288867). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18719240, PubMed:23288867). Catalyzes the glucuronidation of the endogenous estrogen hormones such as estradiol and estriol (PubMed:18719240, PubMed:23288867)., [UniProtKB, PubMed, PubMed]; UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females., [RefSeq, PubMed]",
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{
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{
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{
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],
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{
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"length": 247,
"protein_name": "Trypsin-2",
"gene_name": "PRSS2",
"organism": "Human",
"refseq_name": "trypsin-2 isoform 2 preproprotein",
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{
"id": "NP_002761",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761",
"type": "external"
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],
"gene_names_uniprotkb": "PRSS2; TRY2; TRYP2",
"gene_names_refseq": "PRSS2; TRY2; TRY8; TRYP2",
"protein_names_uniprotkb": "Trypsin-2; 3.4.21.4; Anionic trypsinogen; Serine protease 2; Trypsin II",
"protein_names_refseq": "anionic trypsinogen; protease serine 2 preproprotein; protease, serine 2; protease, serine, 2 (trypsin 2); trypsin II; trypsin-2 isoform 2 preproprotein; trypsin-2; trypsinogen 2",
"tax_id": 9606,
"disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)",
"pathway": " (hsa:5645); (R-HSA-1442490); (R-HSA-1462054); (R-HSA-1592389); (R-HSA-6798695); (R-HSA-6803157)",
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"class_list": "",
"function": "High expression of serine protease 2 (PRSS2) associated with invasion, metastasis, and proliferation in gastric cancer., [RefSeq, PubMed]; In the ileum, may be involved in defensin processing, including DEFA5., [UniProtKB, PubMed]; PRSS2 regulates EMT and metastasis via MMP-9 in gastric cancer., [RefSeq, PubMed]; PRSS2 remodels the tumor microenvironment via repression of Tsp1 to stimulate tumor growth and progression. Publication Status: Online-Only, [RefSeq, PubMed]; Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression., [RefSeq, PubMed]; This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015]., [RefSeq]",
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],
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"go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030307 positive regulation of cell growth;GO:0045785 positive regulation of cell adhesion;GO:0007586 digestion",
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{
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{
"id": "UBFL6_HUMAN",
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}
],
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"gene_name": "UBTFL6",
"organism": "Human",
"refseq_name": "",
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"protein_names_uniprotkb": "Putative upstream-binding factor 1-like protein 6",
"protein_names_refseq": "",
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"go_molecular_function": "GO:0001164 RNA polymerase I core promoter sequence-specific DNA binding;GO:0001181 RNA polymerase I general transcription initiation factor activity",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0045943 positive regulation of transcription by RNA polymerase I",
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},
{
"uniprot_canonical_ac": "P22310-1",
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{
"id": "UD14_HUMAN",
"url": "https://www.uniprot.org/uniprot/P22310",
"type": "external"
}
],
"mass": 60025.0,
"length": 534,
"protein_name": "UDP-glucuronosyltransferase 1A4",
"gene_name": "UGT1A4",
"organism": "Human",
"refseq_name": "UDP-glucuronosyltransferase 1A4 precursor",
"refseq_ac": [
{
"id": "NP_009051",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009051",
"type": "external"
}
],
"gene_names_uniprotkb": "UGT1A4; GNT1; UGT1",
"gene_names_refseq": "HUG-BR2; UDPGT 1-4; UGT-1D; UGT1-04; UGT1.4; UGT1A4S; UGT1A4; UGT1D",
"protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A4; 2.4.1.17; Bilirubin-specific UDPGT isozyme 2; UDP-glucuronosyltransferase 1-4; UDP-glucuronosyltransferase 1-D; UDPGT 1-4; UGT-1D; UGT1*4; UGT1-04; UGT1.4; UGT1A4; UGT1D; hUG-BR2",
"protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A4; UDP glycosyltransferase 1 family, polypeptide A4; UDP-glucuronosyltransferase 1 family polypeptide A4s; UDP-glucuronosyltransferase 1-4; UDP-glucuronosyltransferase 1-D; UDP-glucuronosyltransferase 1A4 precursor; UDP-glucuronosyltransferase 1A4; bilirubin-specific UDPGT isozyme 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:54657); (R-HSA-156588); (R-HSA-189483); (R-HSA-5579016); (R-HSA-9749641)",
"pathway_count": 5,
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"publication_id_list": "10220572;10421658;10434065;10620517;10644574;11023036;11134001;11397817;11434514;1157293;11581266;12433823;12616642;1339448;13741103;14570768;14616765;14672974;15001581;15135306;15231852;15245331;16258079;1634050;1634606;16837570;16858120;1692835;16943252;17179145;17482904;17576790;1783992;17909004;18004212;18052085;18177842;18238858;18719240;1898728;19159218;19204906;19545173;19836360;20133892;20610558;22232210;22294686;22674043;22823425;23288867;24641623;24715725;25840124;27556486;28677105;28803208;29741879;3082969;31154438;32456253;3342084;34046917;35580925;36178169;3705620;37340142;39171428;4639028;4980931;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7372607;7802672;7906695;8027054;8276413;8687483;9144407;931988;975718",
"class_list": "glycogene;glycosyltransferase",
"function": "A validation study of the UGT1A4 rs2011404 variant and the risk of anti-tuberculosis drug-induced hepatotoxicity in an Eastern Chinese Han population., [RefSeq, PubMed]; Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy., [RefSeq, PubMed]; Hepatotoxicity with High-Dose Green Tea Extract: Effect of Catechol-O-Methyltransferase and Uridine 5'-Diphospho-glucuronosyltransferase 1A4 Genotypes., [RefSeq, PubMed]; Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder., [RefSeq, PubMed]; Lacks UDP-glucuronosyltransferase (UGT) activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed]; Representation of CYP3A4, CYP3A5 and UGT1A4 Polymorphisms within Croatian Breast Cancer Patients' Population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18177842, PubMed:24641623, PubMed:15231852). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18177842, PubMed:20133892). Involved in the glucuronidation of calcidiol, which is the major circulating form of vitamin D3 essential for the regulation of calcium and phosphate homeostasis (PubMed:24641623). Also glucuronidates the biologically active form of vitamin D3, calcitriol, probably leading to its biliary transport and intestinal reabsorption (PubMed:18177842). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE and PGB1 (PubMed:15231852). Catalyzes N-glucuronidation of tobacco alkaloids, tobacco-specific nitrosamines and tricyclic antidepressants (PubMed:17576790, PubMed:18238858, PubMed:20133892, PubMed:28803208)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "B2R937;B8K288;Q5DT00",
"ec_number_list": [
{
"id": "2.4.1.17",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17",
"type": "external"
},
{
"id": "2.4.1.170",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.170",
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{
"id": "2.4.1.185",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.185",
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}
],
"go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0016125 sterol metabolic process;GO:0042167 heme catabolic process",
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},
{
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{
"id": "UD13_HUMAN",
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],
"mass": 60338.0,
"length": 534,
"protein_name": "UDP-glucuronosyltransferase 1A3",
"gene_name": "UGT1A3",
"organism": "Human",
"refseq_name": "UDP-glucuronosyltransferase 1A3 precursor",
"refseq_ac": [
{
"id": "NP_061966",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061966",
"type": "external"
}
],
"gene_names_uniprotkb": "UGT1A3; GNT1; UGT1",
"gene_names_refseq": "UDPGT 1-3; UDPGT; UGT-1C; UGT1-03; UGT1.3; UGT1A3S; UGT1A3; UGT1C",
"protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A3; 2.4.1.17; UDP-glucuronosyltransferase 1-3; UDP-glucuronosyltransferase 1-C; UDP-glucuronosyltransferase 1A isoform 3; UDPGT 1-3; UGT-1C; UGT1*3; UGT1-03; UGT1.3; UGT1A3; UGT1C",
"protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A3; UDP glycosyltransferase 1 family, polypeptide A3; UDP-glucuronosyltransferase 1 family polypeptide A3s; UDP-glucuronosyltransferase 1-3; UDP-glucuronosyltransferase 1-C; UDP-glucuronosyltransferase 1A3 precursor; UDP-glucuronosyltransferase 1A3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:54659); (R-HSA-156588); (R-HSA-9623433); (R-HSA-9749641); (R-HSA-9754706); (R-HSA-9757110)",
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"class_list": "glycogene;glycosyltransferase",
"function": "Evaluation of pharmacogenomics and hepatic nuclear imaging-related covariates by population pharmacokinetic models of irinotecan and its metabolites., [RefSeq, PubMed]; Icaritin was subjected to significant glucuronidation, wherein UGT1A3, 1A7, 1A8, 1A9 and 2B7 were main contributing enzymes., [RefSeq, PubMed]; Identification of low-frequency variants of UGT1A3 associated with bladder cancer risk by next-generation sequencing., [RefSeq, PubMed]; Lacks UDP-glucuronosyltransferase (UGT) activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed]; Our study demonstrated that UGT1A3 functioned as an oncogenic factor in lung adenocarcinoma progression, [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:15472229, PubMed:18674515, PubMed:18719240, PubMed:23288867, PubMed:23756265, PubMed:24641623, PubMed:21422672). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:23756265). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol and estrone (PubMed:15472229, PubMed:18719240, PubMed:23288867). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Involved in the glucuronidation of calcidiol, which is the major circulating form of vitamin D3, essential for the regulation of calcium and phosphate homeostasis (PubMed:24641623). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonists losartan, candesartan and zolarsartan, which can inhibit the effect of angiotensin II (PubMed:18674515)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT1A3 and Sex Are Major Determinants of Telmisartan Pharmacokinetics-A Comprehensive Pharmacogenomic Study., [RefSeq, PubMed]",
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{
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"type": "external"
},
{
"id": "2.3.1.48",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48",
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.170",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.185",
"type": "external"
}
],
"go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 18.8,
"record_id": "P35503-1",
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"kg_view_protein": true
},
{
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{
"id": "U17L6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6QN14",
"type": "external"
}
],
"mass": 44690.0,
"length": 398,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 6",
"gene_name": "USP17L6P",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "USP17L6P; USP17C; USP17D; USP17N",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 6; 3.4.19.12; Deubiquitinating enzyme 17-like protein 6; Ubiquitin thioesterase 17-like protein 6; Ubiquitin-specific-processing protease 17-like protein 6",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)",
"pathway": "",
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"publication_id_list": "15780755;17109758;33968037;35051231",
"class_list": "",
"function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, cell migration, and the cellular response to viral infection. Seems to be non-functional in the regulation of apoptosis., [UniProtKB, PubMed]",
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"go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process;GO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q6R6M4",
"type": "external"
}
],
"mass": 59619.0,
"length": 530,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 17",
"gene_name": "USP17L2",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 17",
"refseq_ac": [
{
"id": "NP_958804",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_958804",
"type": "external"
}
],
"gene_names_uniprotkb": "USP17L2; DUB3; USP17H; USP17I; USP17J; USP17K; USP17L; USP17M; USP17",
"gene_names_refseq": "DUB-3; DUB3; USP17L2; USP17",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17; 3.4.19.12; DUB-3; Deubiquitinating enzyme 17-like protein 2; Deubiquitinating protein 3; USP17; Ubiquitin carboxyl-terminal hydrolase 17-like protein 2; Ubiquitin thioesterase 17-like protein 2; Ubiquitin-specific-processing protease 17-like protein 2",
"protein_names_refseq": "deubiquitinating enzyme 17-like protein 2; deubiquitinating enzyme 3; deubiquitinating protein 3; ubiquitin carboxyl-terminal hydrolase 17-like protein 2; ubiquitin carboxyl-terminal hydrolase 17; ubiquitin specific peptidase 17-like 2; ubiquitin thioesterase 17-like protein 2; ubiquitin thiolesterase 17-like protein 2; ubiquitin-specific-processing protease 17-like protein 2",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)",
"pathway": " (hsa:377630); (R-HSA-5689880); (R-HSA-9648002)",
"pathway_count": 3,
"publication_count": 140,
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"class_list": "",
"function": "Clinicopathological Significance of DUB3 Expression in Non-small Cell Lung Cancer and Relationship Between DUB3 Expression and LATS1 Expression., [RefSeq, PubMed]; DUB3 deubiquitinates and stabilizes NRF2 in chemotherapy resistance of colorectal cancer., [RefSeq, PubMed]; DUB3 functions as a novel cyclin A regulator through maintaining cyclin A stability. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetylation. Through activation of the Rho family GTPases RAC1A, CDC42 and RHOA, regulates cell migration. Through the cleavage of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains of the cytoplasmic innate immune receptors RIGI and IFIH1 stimulates the cellular response to viral infection., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human DUB-3, like the murine DUB family members, is transiently induced in response to cytokines and can, when constitutively expressed, block growth factor-dependent proliferation., [RefSeq, PubMed]; NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3. Publication Status: Online-Only, [RefSeq, PubMed]; USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells., [RefSeq, PubMed]",
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{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "3.6.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48",
"type": "external"
},
{
"id": "3.4.26.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.26.1",
"type": "external"
}
],
"go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane",
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},
{
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{
"id": "U17L1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7RTZ2",
"type": "external"
}
],
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"length": 530,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 1",
"gene_name": "USP17L1",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 1",
"refseq_ac": [
{
"id": "NP_001243802",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243802",
"type": "external"
}
],
"gene_names_uniprotkb": "USP17L1; USP17L1P; USP17L",
"gene_names_refseq": "USP17L1P; USP17L1",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 1; 3.4.19.12; Deubiquitinating enzyme 17-like protein 1; Ubiquitin thioesterase 17-like protein 1; Ubiquitin-specific-processing protease 17-like protein 1",
"protein_names_refseq": "deubiquitinating enzyme 17-like protein 1; putative ubiquitin carboxyl-terminal hydrolase 17-like protein 1; ubiquitin carboxyl-terminal hydrolase 17-like protein 1; ubiquitin thioesterase 17-like protein 1; ubiquitin-specific-processing protease 17-like protein 1",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)",
"pathway": " (hsa:401447); (R-HSA-5689880)",
"pathway_count": 2,
"publication_count": 64,
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"class_list": "",
"function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]",
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{
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{
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{
"id": "3.4.26.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.26.1",
"type": "external"
}
],
"go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol",
"go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006915 apoptotic process;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IWV8-1",
"uniprot_id": [
{
"id": "UBR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IWV8",
"type": "external"
}
],
"mass": 200538.0,
"length": 1755,
"protein_name": "E3 ubiquitin-protein ligase UBR2",
"gene_name": "UBR2",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase UBR2 isoform 2",
"refseq_ac": [
{
"id": "NP_001171730",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171730",
"type": "external"
}
],
"gene_names_uniprotkb": "UBR2; C6orf133; KIAA0349",
"gene_names_refseq": "C6orf133; UBR2; bA49A4.1; dJ242G1.1; dJ392M17.3",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase UBR2; 2.3.2.27; N-recognin-2; Ubiquitin-protein ligase E3-alpha-2; Ubiquitin-protein ligase E3-alpha-II",
"protein_names_refseq": "E3 ubiquitin-protein ligase UBR2 isoform 2; RING-type E3 ubiquitin transferase UBR2; ubiquitin-protein ligase E3-alpha-2; ubiquitin-protein ligase E3-alpha-II",
"tax_id": 9606,
"disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); neurodegenerative disease (Disease Ontology:DOID:1289)",
"pathway": " (hsa:23304); (R-HSA-983168)",
"pathway_count": 2,
"publication_count": 131,
"publication_id_list": "11062501;11350924;12646216;14585983;14734113;15224091;15224092;15317757;15548684;15571818;16311597;16595681;16849449;16954532;17081983;18662542;18669648;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20298436;20835242;22223895;2261476;22898188;23481700;24397554;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28392261;28514659;28602583;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30455355;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33288741;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34922125;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38225265;9380723;9668046",
"class_list": "",
"function": "Burden of rare coding variants in an Italian cohort of familial multiple sclerosis., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:20835242, PubMed:28392261). Recognizes and binds to proteins bearing specific N-terminal residues (N-degrons) that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (PubMed:20835242, PubMed:28392261). Recognizes both type-1 and type-2 N-degrons, containing positively charged amino acids (Arg, Lys and His) and bulky and hydrophobic amino acids, respectively (PubMed:20835242, PubMed:28392261). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:20835242). In contrast, it strongly binds methylated N-degrons (PubMed:28392261). Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A (By similarity). Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth (PubMed:20298436). Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retrotransposon mobilization (By similarity). Catalyzes ubiquitination and degradation of the N-terminal part of NLRP1 following NLRP1 activation by pathogens and other damage-associated signals: ubiquitination promotes degradation of the N-terminal part and subsequent release of the cleaved C-terminal part of NLRP1, which polymerizes and forms the NLRP1 inflammasome followed by host cell pyroptosis (By similarity). Plays a role in T-cell receptor signaling by inducing 'Lys-63'-linked ubiquitination of lymphocyte cell-specific kinase LCK (PubMed:38225265). This activity is regulated by DUSP22, which induces 'Lys-48'-linked ubiquitination of UBR2, leading to its proteasomal degradation by SCF E3 ubiquitin-protein ligase complex (PubMed:38225265)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Study provides functional data for the mouse ubiquitin protein ligase E3 component n-recognin 2 protein., [RefSeq, PubMed]; The E3 ligase UBR2 regulates cell death under caspase deficiency via Erk/MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The phosphatase DUSP22 inhibits UBR2-mediated K63-ubiquitination and activation of Lck downstream of TCR signalling. Publication Status: Online-Only, [RefSeq, PubMed]",
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"ec_number_list": [
{
"id": "2.3.2.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24",
"type": "external"
},
{
"id": "2.3.2.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23",
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "2.3.2.31",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31",
"type": "external"
},
{
"id": "2.3.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-",
"type": "external"
},
{
"id": "6.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
"type": "external"
},
{
"id": "2.3.2.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34",
"type": "external"
},
{
"id": "2.3.2.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32",
"type": "external"
},
{
"id": "3.6.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-",
"type": "external"
},
{
"id": "2.3.2.25",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25",
"type": "external"
},
{
"id": "2.3.2.36",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36",
"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0070728 L-leucine binding;GO:0141053 histone H2A ubiquitin ligase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0000151 ubiquitin ligase complex",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0050862 positive regulation of T cell receptor signaling pathway;GO:0016567 protein ubiquitination;GO:0032007 negative regulation of TOR signaling",
"synthesized_glycan_count": 0,
"hit_score": 13.4,
"record_id": "Q8IWV8-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IXB3-1",
"uniprot_id": [
{
"id": "TARG1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IXB3",
"type": "external"
}
],
"mass": 19254.0,
"length": 177,
"protein_name": "Trafficking regulator of GLUT4 1",
"gene_name": "TRARG1",
"organism": "Human",
"refseq_name": "trafficking regulator of GLUT4 1",
"refseq_ac": [
{
"id": "NP_758955",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_758955",
"type": "external"
}
],
"gene_names_uniprotkb": "TRARG1; IFITMD3; LOST1; TUSC5",
"gene_names_refseq": "BEC-1; DSPB1; IFITMD3; LOST1; TRARG1; TUSC5",
"protein_names_uniprotkb": "Trafficking regulator of GLUT4 1; DSPB1; Dispanin subfamily B member 1; Interferon-induced transmembrane domain-containing protein D3; Protein located at seventeen-p-thirteen point three 1; Tumor suppressor candidate 5",
"protein_names_refseq": "brain endothelial cell derived gene-1; dispanin subfamily B member 1; interferon induced transmembrane protein domain containing 3; interferon-induced transmembrane domain-containing protein D3; located at seventeen p thirteen point three 1; protein located at seventeen-p-thirteen point three 1; trafficking regulator of GLUT4 1; tumor suppressor candidate 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:286753)",
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"function": "Aberrant DNA hypermethylation of TUSC5 in breast cancer suggests epigenetic mechanism of cancer associated down-regulation, [RefSeq, PubMed]; Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation., [UniProtKB, UniProtKB]; These findings may point to participation of Tusc5 in shared adipose-nervous system functions., [RefSeq, PubMed]; Trafficking regulator of GLUT4-1 (TRARG1) is a GSK3 substrate., [RefSeq, PubMed]",
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{
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{
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"function": "May regulate cell migration., [UniProtKB, PubMed]",
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},
{
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{
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],
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"protein_name": "Thrombospondin-type laminin G domain and EAR repeat-containing protein",
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"refseq_name": "thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2",
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{
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],
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"protein_names_uniprotkb": "Thrombospondin-type laminin G domain and EAR repeat-containing protein; TSP-EAR",
"protein_names_refseq": "thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2; thrombospondin-type laminin G domain and EAR repeats-containing protein",
"tax_id": 9606,
"disease": "tooth agenesis (Disease Ontology:DOID:0050591); autosomal recessive nonsyndromic deafness 98 (Disease Ontology:DOID:0110540); ectodermal dysplasia 14 (Disease Ontology:DOID:0111662); tooth agenesis, selective, 10 (MONDO:MONDO:0859339)",
"pathway": " (hsa:54084)",
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"function": "Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. Publication Status: Online-Only, [RefSeq, PubMed]; Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. Publication Status: Online-Only, [RefSeq, PubMed]; Novel TSPEAR mutations in non-syndromic oligodontia., [RefSeq, PubMed]; Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063)., [UniProtKB, PubMed, PubMed]; TSPEAR expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; TSPEAR mutation is associated with tooth agenesis., [RefSeq, PubMed]; TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study., [RefSeq, PubMed]; TSPEAR, cause disorders with auditory features: epilepsy, which can include auditory features in humans; audiogenic seizures in animals; and/or hearing impairments in humans and mice., [RefSeq, PubMed]; This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; Using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter Publication Status: Online-Only, [RefSeq, PubMed]",
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{
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{
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],
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"protein_name": "Trimethylguanosine synthase",
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"refseq_name": "trimethylguanosine synthase isoform 2",
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{
"id": "NP_001304831",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304831",
"type": "external"
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],
"gene_names_uniprotkb": "TGS1; HCA137; NCOA6IP; PIMT",
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"protein_names_uniprotkb": "Trimethylguanosine synthase; 2.1.1.-; CLL-associated antigen KW-2; Cap-specific guanine-N(2) methyltransferase; Hepatocellular carcinoma-associated antigen 137; Nuclear receptor coactivator 6-interacting protein; PIMT; PIPMT; PRIP-interacting protein with methyltransferase motif",
"protein_names_refseq": "CLL-associated antigen KW-2; PRIP-interacting protein with methyltransferase motif; cap-specific guanine-N(2) methyltransferase; cap-specific guanine-N2 methyltransferase; hepatocellular carcinoma-associated antigen 137; nuclear receptor coactivator 6-interacting protein; trimethylguanosine synthase isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:96764); (R-HSA-1368108); (R-HSA-191859); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-400206); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9933387)",
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"id": "2.1.1.319",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319",
"type": "external"
},
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
},
{
"id": "3.1.13.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1",
"type": "external"
},
{
"id": "5.6.2.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6",
"type": "external"
},
{
"id": "3.6.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13",
"type": "external"
},
{
"id": "3.6.1.15",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15",
"type": "external"
}
],
"go_molecular_function": "GO:0071164 RNA cap trimethylguanosine synthase activity;GO:0008173 RNA methyltransferase activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0022613 ribonucleoprotein complex biogenesis;GO:0036261 7-methylguanosine cap hypermethylation;GO:0006351 DNA-templated transcription;GO:0000387 spliceosomal snRNP assembly",
"synthesized_glycan_count": 0,
"hit_score": 28.3,
"record_id": "Q96RS0-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8N9F0-1",
"uniprot_id": [
{
"id": "NAT8L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N9F0",
"type": "external"
}
],
"mass": 32837.0,
"length": 302,
"protein_name": "N-acetylaspartate synthetase",
"gene_name": "NAT8L",
"organism": "Human",
"refseq_name": "N-acetylaspartate synthetase",
"refseq_ac": [
{
"id": "NP_848652",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_848652",
"type": "external"
}
],
"gene_names_uniprotkb": "NAT8L; CML3",
"gene_names_refseq": "ASPNAT; CML3; NACED; NAT8-LIKE; NAT8L",
"protein_names_uniprotkb": "N-acetylaspartate synthetase; 2.3.1.17; Camello-like protein 3; N-acetyltransferase 8-like protein; NAA synthetase",
"protein_names_refseq": "N-acetylaspartate synthetase; N-acetyltransferase 8 like; N-acetyltransferase 8-like (GCN5-related, putative); NAA synthetase; Shati; camello-like protein 3",
"tax_id": 9606,
"disease": "N-acetylaspartate deficiency (MONDO:MONDO:0013549)",
"pathway": " (hsa:339983); (R-HSA-8963693)",
"pathway_count": 2,
"publication_count": 52,
"publication_id_list": "10085079;10369257;10642534;11397015;11566871;12602510;14716746;15146197;16467855;16669630;17027983;17194761;19524112;19641205;19678840;19807691;20385109;22304711;2241899;22718265;23038267;24155240;24657844;24715725;2564390;26992070;27045997;28904123;29242379;29372909;29393594;29557506;30429286;30779550;31154438;31222486;31844290;32157095;32387766;32612069;32897882;32938616;33981976;34087483;34171305;34509645;35051231;35580925;36241641;36580805;36882060;4052435",
"class_list": "",
"function": "Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA (PubMed:19524112, PubMed:19807691, PubMed:20385109). Promotes dopamine uptake by regulating TNF expression (By similarity). Attenuates methamphetamine-induced inhibition of dopamine uptake (PubMed:20385109)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Hindering NAT8L expression in hepatocellular carcinoma increases cytosolic aspartate delivery that fosters pentose phosphate pathway and purine biosynthesis promoting cell proliferation., [RefSeq, PubMed]; Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder., [RefSeq, PubMed]; NAT8L mRNA oxidation is linked to neurodegeneration in multiple sclerosis., [RefSeq, PubMed]; Results indicated that NAT8L, but not NAT14, catalysed the synthesis of NAA from L-aspartate and acetyl-CoA. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane-associated N-acetyltransferase that catalyzes the synthesis of N-acetylaspartate (NAA) from aspartate and acetyl-CoA. NAA is abundant in the nervous system where it functions as a key metabolite, playing a role in metabolism and myelination. Outside of the nervous system, this gene is also highly expressed in adipocytes where it has been implicated in lipid synthesis and turnover. Mutations in this gene may be associated with N-acetylaspartate deficiency. [provided by RefSeq, Apr 2026]., [RefSeq]",
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "",
"ec_number_list": [
{
"id": "2.3.1.17",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.17",
"type": "external"
}
],
"go_molecular_function": "GO:0017188 L-aspartate N-acetyltransferase activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0170033 L-amino acid metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 5.3,
"record_id": "Q8N9F0-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y2P4-1",
"uniprot_id": [
{
"id": "S27A6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y2P4",
"type": "external"
}
],
"mass": 70112.0,
"length": 619,
"protein_name": "Long-chain fatty acid transport protein 6",
"gene_name": "SLC27A6",
"organism": "Human",
"refseq_name": "long-chain fatty acid transport protein 6",
"refseq_ac": [
{
"id": "NP_001017372",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017372",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC27A6; ACSVL2; FACVL2; FATP6",
"gene_names_refseq": "ACSVL2; FACVL2; FATP6; SLC27A6; VLCS-H1",
"protein_names_uniprotkb": "Long-chain fatty acid transport protein 6; 6.2.1.-; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; FATP-6; Fatty acid transport protein 6; Fatty-acid-coenzyme A ligase, very long-chain 2; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 6; VLCSH1; Very long-chain acyl-CoA synthetase homolog 1; hVLCS-H1",
"protein_names_refseq": "acyl-CoA synthetase very long chain family, member 2; arachidonate--CoA ligase; fatty-acid-Coenzyme A ligase, very long-chain 2; long-chain fatty acid transport protein 6; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 6; very long-chain acyl-CoA synthetase homolog 1",
"tax_id": 9606,
"disease": "myocardial infarction (Disease Ontology:DOID:5844)",
"pathway": " (hsa:28965); (R-HSA-804914)",
"pathway_count": 2,
"publication_count": 19,
"publication_id_list": "10518211;11237011;12235169;12556534;16504339;19946382;20124557;21920065;29557506;30911270;32387766;3453108;35051231;35348939;35580925;37217939;7684291;7918467;9878842",
"class_list": "",
"function": "FATP6 is involved in heart LCFA uptake, in which it may play a role in the pathogenesis of lipid-related cardiac disorders., [RefSeq, PubMed]; Inverse correlation between SLC27A6 expression and breast tumoral tissues.SLC27A6role in the cell growth and cell cycle regulation in non-tumorigenic breast cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport at the plasma membrane (PubMed:12556534). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates (By similarity). Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation such as the heart (PubMed:12556534)., [UniProtKB, UniProtKB, PubMed]; Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the Proliferation of Papillary Thyroid Cancer by Regulating c-MYC., [RefSeq, PubMed]; The FATP6-7T>A polymorphism may protect from traits of the metabolic syndrome and CVD., [RefSeq, PubMed]; This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 8,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 1,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q6IAM5;Q7Z6E6;Q86YF6",
"ec_number_list": [
{
"id": "6.2.1.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3",
"type": "external"
},
{
"id": "6.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
"type": "external"
},
{
"id": "6.2.1.7",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7",
"type": "external"
},
{
"id": "6.2.1.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24",
"type": "external"
},
{
"id": "6.2.1.15",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15",
"type": "external"
},
{
"id": "6.2.1.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2",
"type": "external"
},
{
"id": "6.2.1.76",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.76",
"type": "external"
}
],
"go_molecular_function": "GO:0015245 fatty acid transmembrane transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0000166 nucleotide binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0042383 sarcolemma",
"go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0044539 long-chain fatty acid import into cell;GO:0015909 long-chain fatty acid transport;GO:0015908 fatty acid transport",
"synthesized_glycan_count": 0,
"hit_score": 2.2,
"record_id": "Q9Y2P4-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H299-1",
"uniprot_id": [
{
"id": "SH3L3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H299",
"type": "external"
}
],
"mass": 10438.0,
"length": 93,
"protein_name": "SH3 domain-binding glutamic acid-rich-like protein 3",
"gene_name": "SH3BGRL3",
"organism": "Human",
"refseq_name": "SH3 domain-binding glutamic acid-rich-like protein 3",
"refseq_ac": [
{
"id": "NP_112576",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_112576",
"type": "external"
}
],
"gene_names_uniprotkb": "SH3BGRL3; P1725",
"gene_names_refseq": "HEL-S-297; SH3BGRL3; SH3BP-1; TIP-B1",
"protein_names_uniprotkb": "SH3 domain-binding glutamic acid-rich-like protein 3; SH3 domain-binding protein 1; SH3BP-1; TIP-B1; TNF inhibitory protein B1",
"protein_names_refseq": "SH3 domain binding glutamic acid-rich protein like 3; SH3 domain-binding glutamic acid-rich-like protein 3; SH3 domain-binding protein 1; SH3BGRL3-like protein; TNF inhibitory protein B1; TNF inhibitory protein; epididymis secretory protein Li 297; epididymis secretory sperm binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:83442)",
"pathway_count": 1,
"publication_count": 65,
"publication_id_list": "10554026;11137621;11237011;11344125;11404387;11444877;15004565;15907482;23481700;23783831;24366607;25576301;25645385;26286913;26375851;27452731;27600516;27726376;28467828;28832583;28871256;28904123;29242379;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30315122;30429286;31154438;31530632;31844290;31848261;32157095;32162841;32350084;32357974;32381043;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33298915;33392160;33592498;33839406;33968037;34019948;34357683;34380438;34509645;35051231;35154160;35251023;35561310;35580925;36241641;37938771;38665916",
"class_list": "",
"function": "Could act as a modulator of glutaredoxin biological activity (Probable). May play a role in cytoskeleton organization (PubMed:34380438)., [UniProtKB, PubMed, PubMed]; Could act as a modulator of glutaredoxin biological activity. May play a role in cytoskeleton organization., [UniProtKB, UniProtKB]; SH3BGRL confers innate drug resistance in breast cancer by stabilizing HER2 activation on cell membrane. Publication Status: Online-Only, [RefSeq, PubMed]; SH3BGRL3 binds to myosin 1c in a calcium dependent manner and modulates migration in the MDA-MB-231 cell line. Publication Status: Online-Only, [RefSeq, PubMed]; SH3BGRL3 is a novel urinary biomarker for urothelial carcinoma. Evaluation of SH3BGRL3 expression status may identify a subset of patients with urothelial carcinoma for cotargeting candidates in the design of EGFR-based cancer therapies., [RefSeq, PubMed]; SH3BGRL3, transcribed by STAT3, facilitates glioblastoma tumorigenesis by activating STAT3 signaling., [RefSeq, PubMed]",
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"secondary_ac_list": "Q5T122",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0032587 ruffle membrane",
"go_biological_process": "GO:0007010 cytoskeleton organization",
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},
{
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{
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"type": "external"
}
],
"mass": 27622.0,
"length": 251,
"protein_name": "Transcription initiation factor TFIID subunit 9B",
"gene_name": "TAF9B",
"organism": "Human",
"refseq_name": "transcription initiation factor TFIID subunit 9B",
"refseq_ac": [
{
"id": "NP_057059",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057059",
"type": "external"
}
],
"gene_names_uniprotkb": "TAF9B; TAF9L",
"gene_names_refseq": "DN-7; DN7; TAF9B; TAF9L; TAFII31L; TFIID-31",
"protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 9B; DN-7; Neuronal cell death-related protein 7; Transcription initiation factor TFIID subunit 9-like; Transcription-associated factor TAFII31L",
"protein_names_refseq": "TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa; TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa; TBP-associated factor 9L; neuronal cell death-related protein 7; transcription initiation factor IID, 31kD subunit; transcription initiation factor TFIID subunit 9B; transcription-associated factor TAFII31L",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51616); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-5689880); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)",
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"publication_count": 192,
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"function": "Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription., [UniProtKB, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA interference experiments suggest that TAF9L is essential for HeLa cell growth and this protein is involved in transcriptional repression., [RefSeq, PubMed]; TAF9b (TAF9L) was identified as a subunit of TFIID., [RefSeq, PubMed]",
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"binding_glycan_count": 0,
"secondary_ac_list": "B2RUZ9;Q9Y2S3",
"ec_number_list": [],
"go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0003714 transcription corepressor activity;GO:0016251 RNA polymerase II general transcription initiation factor activity",
"go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030307 positive regulation of cell growth;GO:0043066 negative regulation of apoptotic process;GO:0050821 protein stabilization;GO:0006352 DNA-templated transcription initiation",
"synthesized_glycan_count": 0,
"hit_score": 20.6,
"record_id": "Q9HBM6-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P32241-1",
"uniprot_id": [
{
"id": "VIPR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P32241",
"type": "external"
}
],
"mass": 51547.0,
"length": 457,
"protein_name": "Vasoactive intestinal polypeptide receptor 1",
"gene_name": "VIPR1",
"organism": "Human",
"refseq_name": "vasoactive intestinal polypeptide receptor 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001238811",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238811",
"type": "external"
}
],
"gene_names_uniprotkb": "VIPR1",
"gene_names_refseq": "HVR1; II; PACAP-R-2; PACAP-R2; RDC1; V1RG; VAPC1; VIP-R-1; VIPR1; VIPR; VIRG; VPAC1R; VPAC1; VPCAP1R",
"protein_names_uniprotkb": "Vasoactive intestinal polypeptide receptor 1; PACAP type II receptor; PACAP-R-2; PACAP-R2; Pituitary adenylate cyclase-activating polypeptide type II receptor; VIP-R-1; VPAC1 receptor; VPAC1R",
"protein_names_refseq": "PACAP type II receptor; VIP and PACAP receptor 1; VIP receptor, type I; VPAC1 receptor; pituitary adenylate cyclase activating polypeptide receptor, type II; type 1 vasoactive intestinal peptide receptor; vasoactive intestinal polypeptide receptor 1 isoform 2",
"tax_id": 9606,
"disease": "ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); achalasia (Disease Ontology:DOID:9164)",
"pathway": " (hsa:7433); (R-HSA-418555); (R-HSA-420092)",
"pathway_count": 3,
"publication_count": 101,
"publication_id_list": "10.1101/2023.09.13.557529;10322410;10698200;10880047;11007482;11060443;11237011;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;14734527;1517224;15464082;15471943;15537660;15765929;15769620;15951850;16221670;16313925;16554109;16687412;16923326;17168849;1739432;18044684;18577758;18650441;19105585;19876791;19929708;20167541;20381629;21036126;2163110;22403718;2417744;24687066;2491850;2553411;2553705;26417854;2826231;2871555;29443750;29557506;29602314;30008714;30833991;31154438;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;32807782;33049737;33392160;33968037;34509645;35051231;35477937;35580925;35864952;35869757;36385145;36430275;37074911;3899557;6085243;6192430;6745415;7589426;7680413;7700244;7811244;7818527;7902709;7917790;8144028;8179610;8340388;8390245;8514797;8672451;8926282;9263355;9417641;9651336;9928020;9990065",
"class_list": "",
"function": "Activation of VIPR1 suppresses hepatocellular carcinoma progression by regulating arginine and pyrimidine metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Cryo-EM structure of an activated VIP1 receptor-G protein complex revealed by a NanoBiT tethering strategy. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor activated by the neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase-activating polypeptide (ADCYAP1/PACAP) (PubMed:35477937, PubMed:36385145, PubMed:8179610). Binds VIP and both PACAP27 and PACAP38 bioactive peptides with the following order of ligand affinity VIP = PACAP27 > PACAP38 (PubMed:35477937, PubMed:8179610). 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:35477937, PubMed:36385145, PubMed:8179610)., [UniProtKB, PubMed, PubMed, PubMed]; PAC1, VPAC1, and VPAC2 Receptor Expression in Rat and Human Trigeminal Ganglia: Characterization of PACAP-Responsive Receptor Antibodies. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; [VIPR1 promoter methylation promotes transcription factor AP-2alpha binding to inhibit VIPR1 expression and promote hepatocellular carcinoma cell growth in vitro]., [RefSeq, PubMed]",
"predicted_glycosites": 2,
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"missing_score": 9562,
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"secondary_ac_list": "A5JUT9;B3KPV1;B4DEB5;B4DGI4;F5H1F5;G3V0I1;Q15871;Q6P2M6",
"ec_number_list": [],
"go_molecular_function": "GO:0001634 pituitary adenylate cyclase-activating polypeptide receptor activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0004999 vasoactive intestinal polypeptide receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016020 membrane",
"go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger",
"synthesized_glycan_count": 0,
"hit_score": 10.6,
"record_id": "P32241-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "B4DU55-1",
"uniprot_id": [
{
"id": "ZN879_HUMAN",
"url": "https://www.uniprot.org/uniprot/B4DU55",
"type": "external"
}
],
"mass": 64577.0,
"length": 563,
"protein_name": "Zinc finger protein 879",
"gene_name": "ZNF879",
"organism": "Human",
"refseq_name": "zinc finger protein 879",
"refseq_ac": [
{
"id": "NP_001129588",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129588",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF879",
"gene_names_refseq": "DKFZp686E2433; ZNF879",
"protein_names_uniprotkb": "Zinc finger protein 879",
"protein_names_refseq": "zinc finger protein 879",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:345462)",
"pathway_count": 1,
"publication_count": 13,
"publication_id_list": "11237011;25645385;27846572;28832583;28904123;29557506;30379171;30429286;31844290;31848261;32157095;32387766;35051231",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and thirteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]., [RefSeq]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_s_glycosites": 0,
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"reported_snv": 3,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 1.6,
"record_id": "B4DU55-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IWG1-1",
"uniprot_id": [
{
"id": "DNAI3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IWG1",
"type": "external"
}
],
"mass": 102935.0,
"length": 891,
"protein_name": "Dynein axonemal intermediate chain 3",
"gene_name": "DNAI3",
"organism": "Human",
"refseq_name": "dynein axonemal intermediate chain 3 isoform 2",
"refseq_ac": [
{
"id": "NP_001275492",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275492",
"type": "external"
}
],
"gene_names_uniprotkb": "DNAI3; WDR63",
"gene_names_refseq": "DIC3; DNAI3; NYD-SP29; WDR63",
"protein_names_uniprotkb": "Dynein axonemal intermediate chain 3; Testis development protein NYD-SP29; WD repeat-containing protein 63",
"protein_names_refseq": "WD repeat domain 63; WD repeat-containing protein 63; dynein axonemal intermediate chain 3 isoform 2; dynein intermediate chain 3, axonemal; testicular tissue protein Li 225; testis development protein NYD-SP29 (NYD-SP29)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:126820)",
"pathway_count": 1,
"publication_count": 40,
"publication_id_list": "10.1021/acs.analchem.6b02887;11237011;19664994;21953912;24714562;24715725;25498833;25645385;25880248;26992070;27600516;27920218;28035807;28228285;28649982;28832583;28834231;28904123;29242379;29285825;29557506;30379171;30429286;30779550;31092671;31844290;31848261;32128961;32157095;32357974;32387766;32502341;32938616;33717175;33912179;33968037;34171305;34932366;35051231;36010968",
"class_list": "",
"function": "A rare deletion in WDR63 in a case of encephalocele has been characterized. Functional study on zebrafish supports role of WDR63 deletion in abnormal neural development., [RefSeq, PubMed]; Acts as a negative regulator of cell migration, invasion, and metastasis downstream of p53/TP53, through inhibition of Arp2/3 complex-mediated actin polymerization (PubMed:32128961). Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function (By similarity). May play a role in osteogenesis of dental tissue-derived mesenchymal stem cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; These results indicate that WDR63 is a positive enhancer for stem cells from apical papilla osteogenic differentiation and suggest that activation of WDR63 signaling might improve tissue regeneration mediated by MSCs of dental origin., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "A8K988;Q96L72;Q96NU4",
"ec_number_list": [],
"go_molecular_function": "GO:0045503 dynein light chain binding;GO:0045504 dynein heavy chain binding;GO:0071933 Arp2/3 complex binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005858 axonemal dynein complex;GO:0036156 inner dynein arm",
"go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0030336 negative regulation of cell migration;GO:0045669 positive regulation of osteoblast differentiation;GO:0036159 inner dynein arm assembly;GO:0034316 negative regulation of Arp2/3 complex-mediated actin nucleation",
"synthesized_glycan_count": 0,
"hit_score": 4.5,
"record_id": "Q8IWG1-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P52746-1",
"uniprot_id": [
{
"id": "ZN142_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52746",
"type": "external"
}
],
"mass": 187880.0,
"length": 1687,
"protein_name": "Zinc finger protein 142",
"gene_name": "ZNF142",
"organism": "Human",
"refseq_name": "zinc finger protein 142 isoform 1",
"refseq_ac": [
{
"id": "NP_001099007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099007",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF142; KIAA0236",
"gene_names_refseq": "HA4654; NEDISHM; ZNF142; pHZ-49",
"protein_names_uniprotkb": "Zinc finger protein 142",
"protein_names_refseq": "zinc finger protein 142 (clone pHZ-49); zinc finger protein 142 isoform 1",
"tax_id": 9606,
"disease": "neurodevelopmental disorder with impaired speech and hyperkinetic movements (MONDO:MONDO:0032741)",
"pathway": " (hsa:7701)",
"pathway_count": 1,
"publication_count": 30,
"publication_id_list": "11237011;23186163;24715725;25218447;26992070;28228285;28855257;29557506;29786170;30315122;30379171;31036918;31844290;32157095;32387766;32488085;32938616;33298915;33912179;33968037;34087483;34531528;35051231;35580925;35616059;35618198;36241641;37496384;38253038;7557990",
"class_list": "",
"function": "A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review. Review article, [RefSeq, PubMed]; Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features., [RefSeq, PubMed]; Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]; ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. Review article, [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010468 regulation of gene expression",
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},
{
"uniprot_canonical_ac": "O60701-1",
"uniprot_id": [
{
"id": "UGDH_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60701",
"type": "external"
}
],
"mass": 55024.0,
"length": 494,
"protein_name": "UDP-glucose 6-dehydrogenase",
"gene_name": "UGDH",
"organism": "Human",
"refseq_name": "UDP-glucose 6-dehydrogenase isoform 2",
"refseq_ac": [
{
"id": "NP_001171629",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171629",
"type": "external"
}
],
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"gene_names_refseq": "DEE84; EIEE84; GDH; UDP-GlcDH; UDPGDH; UGDH; UGD",
"protein_names_uniprotkb": "UDP-glucose 6-dehydrogenase; 1.1.1.22; UDP-Glc dehydrogenase; UDP-GlcDH; UDPGDH",
"protein_names_refseq": "UDP-Glc dehydrogenase; UDP-glucose 6-dehydrogenase isoform 2; UDP-glucose dehydrogenase; uridine diphospho-glucose dehydrogenase",
"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 84 (Disease Ontology:DOID:0112219)",
"pathway": " (hsa:7358); (R-HSA-173599)",
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"publication_count": 96,
"publication_id_list": "11237011;11322953;15044486;15607426;17599910;19562805;19608861;20068231;20166139;21502315;21595445;21961565;21984906;22123821;23106432;24275569;25367160;25478983;25576301;25645385;25802875;25880248;26154972;26853435;26992070;27600516;27846572;27966912;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29786170;30192525;30315122;30397120;30410026;30420606;30429286;30457329;30833945;31243371;31844290;31848261;31998317;32001716;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32768525;32893977;32938616;32983136;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34509645;34932366;35051231;35561310;35580925;35617808;36010968;36215666;36241641;36284347;37593999;37858159;37938771;38665916;40596516;9737970;9850599",
"class_list": "glycogene",
"function": "Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21502315, PubMed:21961565, PubMed:22123821, PubMed:23106432, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity). Required for proper brain and neuronal development (PubMed:32001716)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Erratum:[Mol Genet Genomic Med. 2025 Sep;13(9):e70145. doi: 10.1002/mgg3.70145. PMID: 40990137], [RefSeq, PubMed]; Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis., [RefSeq, PubMed]; The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells., [RefSeq, PubMed]; UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response., [RefSeq, PubMed]; UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]",
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{
"id": "1.1.1.22",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.22",
"type": "external"
}
],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0001702 gastrulation with mouth forming second;GO:0006024 glycosaminoglycan biosynthetic process;GO:0048666 neuron development;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/P15622",
"type": "external"
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],
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"length": 560,
"protein_name": "Zinc finger protein 250",
"gene_name": "ZNF250",
"organism": "Human",
"refseq_name": "zinc finger protein 250 isoform b",
"refseq_ac": [
{
"id": "NP_001103159",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103159",
"type": "external"
}
],
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"gene_names_refseq": "ZFP647; ZNF250; ZNF647",
"protein_names_uniprotkb": "Zinc finger protein 250; Zinc finger protein 647",
"protein_names_refseq": "zinc finger protein (clone 647); zinc finger protein 250 isoform b; zinc finger protein 647",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:58500); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus",
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},
{
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{
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],
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"protein_name": "Pantetheine hydrolase VNN2",
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"organism": "Human",
"refseq_name": "pantetheine hydrolase VNN2 isoform 3 precursor",
"refseq_ac": [
{
"id": "NP_001229279",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229279",
"type": "external"
}
],
"gene_names_uniprotkb": "VNN2",
"gene_names_refseq": "FOAP-4; GPI-80; VNN2",
"protein_names_uniprotkb": "Pantetheine hydrolase VNN2; 3.5.1.92; Glycosylphosphatidyl inositol-anchored protein GPI-80; Protein FOAP-4; Vanin-2; Vascular non-inflammatory molecule 2",
"protein_names_refseq": "Vannin 2; glycosylphosphatidyl inositol-anchored protein GPI-80; pantetheinase; pantetheine hydrolase VNN2 isoform 3 precursor; pantetheine hydrolase VNN2; vascular non-inflammatory molecule 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8875); (R-HSA-163125); (R-HSA-199220)",
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"publication_id_list": "10201959;10329687;10334869;10567687;11072085;11158296;11237011;11491533;12757929;12815048;16335952;17242360;18805469;19322213;19429682;21183659;24190977;2443973;27322068;28832583;28904123;29242379;29393594;29557506;29671580;30066949;31004344;31776298;31844290;32234503;32350084;32502341;32853382;33936100;34171305;3422494;34769456;35051231;35580925;36983025;8934567;9516450;9790769",
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"function": "Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine (PubMed:11491533). Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil., [UniProtKB, PubMed]; GPI-80 Augments NF-kappaB Activation in Tumor Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Low VNN2 expression is associated with invasion of osteosarcoma., [RefSeq, PubMed]; The expression of GPI-80 on myeloid cells, a useful index for the heterogeneity of Myeloid-derived suppressor cells, serves as a potential prognostic biomarker for Metastatic Renal Cell Carcinoma., [RefSeq, PubMed]; The hematopoietic stem cell marker VNN2 is associated with chemoresistance in pediatric B-cell precursor ALL. Erratum:[Blood Adv. 2022 Apr 26;6(8):2700. doi: 10.1182/bloodadvances.2021005366. PMID: 35467707], [RefSeq, PubMed]; This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]., [RefSeq]",
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{
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"type": "external"
},
{
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},
{
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1",
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},
{
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50",
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},
{
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{
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-",
"type": "external"
}
],
"go_molecular_function": "GO:0017159 pantetheine hydrolase activity;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane",
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"protein_name": "Tubulin monoglycylase TTLL3",
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"refseq_name": "tubulin monoglycylase TTLL3 isoform 1",
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{
"id": "NP_001021100",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001021100",
"type": "external"
}
],
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"gene_names_refseq": "HOTTL; TTLL3",
"protein_names_uniprotkb": "Tubulin monoglycylase TTLL3; 6.3.2.-; HOTTL; Tubulin--tyrosine ligase-like protein 3",
"protein_names_refseq": "tubulin monoglycylase TTLL3 isoform 1; tubulin monoglycylase TTLL3; tubulin tyrosine ligase-like family, member 3; tubulin--tyrosine ligase-like protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26140); (R-HSA-8955332)",
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"publication_id_list": "11054573;11237011;1520276;15890843;16901895;16959974;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;24715725;25103237;25180231;25468068;25957412;29146868;29393594;30620550;34087483;35051231;35494241;7452228",
"class_list": "",
"function": "Characterization of another human tubulin tyrosine ligase-like gene family member, [RefSeq, PubMed]; Monoglycylase which modifies alpha- and beta-tubulin, adding a single glycine on the gamma-carboxyl groups of specific glutamate residues to generate monoglycine side chains within the C-terminal tail of tubulin. Not involved in elongation step of the polyglycylation reaction (By similarity). Preferentially glycylates a beta-tail peptide over the alpha-tail, although shifts its preference toward alpha-tail as beta-tail glutamylation increases (By similarity). Competes with polyglutamylases for modification site on beta-tubulin substrate, thereby creating an anticorrelation between glycylation and glutamylation reactions (By similarity). Together with TTLL8, mediates microtubule glycylation of primary and motile cilia, which is essential for their stability and maintenance (By similarity). Involved in microtubule glycylation of primary cilia in colon which controls cell proliferation of epithelial cells and plays an essential role in colon cancer development (PubMed:25180231). Together with TTLL8, glycylates sperm flagella which regulates axonemal dynein motor activity, thereby controlling flagellar beat, directional sperm swimming and male fertility (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]",
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{
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{
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}
],
"go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0070735 protein-glycine ligase activity;GO:0070736 protein-glycine ligase activity, initiating;GO:0016874 ligase activity",
"go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0036126 sperm flagellum",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0035082 axoneme assembly;GO:0018094 protein polyglycylation",
"synthesized_glycan_count": 0,
"hit_score": 3.1,
"record_id": "Q9Y4R7-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17097-1",
"uniprot_id": [
{
"id": "ZNF7_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17097",
"type": "external"
}
],
"mass": 77887.0,
"length": 686,
"protein_name": "Zinc finger protein 7",
"gene_name": "ZNF7",
"organism": "Human",
"refseq_name": "zinc finger protein 7 isoform 1",
"refseq_ac": [
{
"id": "NP_001269724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269724",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF7; KOX4",
"gene_names_refseq": "HF.16; KOX4; ZNF7; zf30",
"protein_names_uniprotkb": "Zinc finger protein 7; Zinc finger protein HF.16; Zinc finger protein KOX4",
"protein_names_refseq": "C2-H2 type zinc finger protein; Zinc finger protein-7 (KOX4); zinc finger protein 7 (KOX 4, clone HF.16); zinc finger protein 7 isoform 1; zinc finger protein HF.16; zinc finger protein KOX4; zinc finger protein zfp30",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7553)",
"pathway_count": 1,
"publication_count": 50,
"publication_id_list": "11237011;18669648;19690332;19795399;2106481;2288909;23481700;25218447;25418920;25576301;26992070;27846572;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30484775;30524438;31086261;31217245;31844290;31848261;32157095;32387766;32502341;32897882;32938616;32983136;33106291;33141586;33298915;33392160;33537174;33691108;33912179;34171305;34561969;35051231;35580925;36010968;36241641",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA sequencing and Immunohistochemistry Reveal ZFN7 as a Stronger Marker of Survival than Molecular Subtypes in G-CIMP-negative Glioblastoma., [RefSeq, PubMed]; Single-cell imaging revealed that RIPK3-dependent death caused inflammasome-dependent IL-1beta release from lipopolysaccharide-stimulated A20-deficient macrophages. Importantly, mutation of the A20 ZnF7 ubiquitin binding domain caused arthritis in mice, arguing that ZnF7-dependent inhibition of necroptosis is critical for A20 anti-inflammatory function in vivo., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "B4DT08;D3DWN6;P17015;Q8N8Y4",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 5.3,
"record_id": "P17097-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UID3-1",
"uniprot_id": [
{
"id": "VPS51_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UID3",
"type": "external"
}
],
"mass": 86042.0,
"length": 782,
"protein_name": "Vacuolar protein sorting-associated protein 51 homolog",
"gene_name": "VPS51",
"organism": "Human",
"refseq_name": "vacuolar protein sorting-associated protein 51 homolog",
"refseq_ac": [
{
"id": "NP_037397",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_037397",
"type": "external"
}
],
"gene_names_uniprotkb": "VPS51; ANG2; C11orf2; C11orf3; FFR; PP5382",
"gene_names_refseq": "ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13; VPS51",
"protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 51 homolog; Another new gene 2 protein; Protein fat-free homolog",
"protein_names_refseq": "VPS51, GARP complex subunit; another new gene 2 protein; protein fat-free homolog; vacuolar protein sorting 51 homolog; vacuolar protein sorting-associated protein 51 homolog",
"tax_id": 9606,
"disease": "pontocerebellar hypoplasia type 13 (Disease Ontology:DOID:0112332)",
"pathway": " (hsa:738); (R-HSA-6811440)",
"pathway_count": 2,
"publication_count": 187,
"publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15498874;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18691976;18946081;18991276;19164740;19413330;19490898;19620288;19651622;19664995;20685960;21183348;21421921;21436057;21689688;21807881;22223895;22299025;22335553;22354037;22424782;22581368;22717455;23091056;23186163;23437303;23481700;23932592;24366607;24714562;24715725;24794632;25343031;25418920;25505266;25576301;25645385;25799061;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27440922;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30624672;30779550;30833945;31154438;31207318;31217245;31222486;31530632;31721635;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33624744;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40914422;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177;9615229",
"class_list": "",
"function": "A dityrosine motif of Ang2 interacts with a highly conserved groove in Syntaxin 6., [RefSeq, PubMed]; Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061)., [UniProtKB, PubMed, PubMed]; Ang2 is the missing component of the Golgi-associated retrograde protein complex in most eukaryotes., [RefSeq, PubMed]; Involved in retrograde transport from early and late endosomes to the late Golgi. The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. Acts as component of the EARP complex that is involved in endocytic recycling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Soluble fms-like tyrosine kinase-1 and angiotensin2 target calcitonin gene-related peptide family peptides in maternal vascular smooth muscle cells in pregnancydagger., [RefSeq, PubMed]; This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; This observation supports a pathogenic effect of VPS51 variants, which has only been reported previously once, in a single child with microcephaly. It confirms the key role of membrane trafficking in normal brain development and homeostasis., [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "Q6PJV5;Q7L8A6;Q8WZ35;Q96DF4;Q96GR3",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0000938 GARP complex;GO:1990745 EARP complex;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane",
"go_biological_process": "GO:0015031 protein transport;GO:0006605 protein targeting;GO:0006914 autophagy;GO:0042147 retrograde transport, endosome to Golgi;GO:0048854 brain morphogenesis",
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"hit_score": 19.0,
"record_id": "Q9UID3-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17038-1",
"uniprot_id": [
{
"id": "ZNF43_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17038",
"type": "external"
}
],
"mass": 94124.0,
"length": 809,
"protein_name": "Zinc finger protein 43",
"gene_name": "ZNF43",
"organism": "Human",
"refseq_name": "zinc finger protein 43 isoform 1",
"refseq_ac": [
{
"id": "NP_001243577",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243577",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF43; KOX27; ZNF39L1; ZNF39",
"gene_names_refseq": "HTF6; KOX27; ZNF39L1; ZNF43",
"protein_names_uniprotkb": "Zinc finger protein 43; Zinc finger protein 39; Zinc finger protein HTF6; Zinc finger protein KOX27",
"protein_names_refseq": "zinc finger protein 39-like 1 (KOX 27); zinc finger protein 43 isoform 1; zinc finger protein HTF6; zinc finger protein KOX27",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7594); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 25,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;1711675;17178891;2023909;2163759;2288909;27600516;28832583;31217245;31530632;31844290;37217939;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "Human embryo kidney cells that overexpressed AAK1 are adriamycin resistant, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8K5N8;P28160;Q53XQ2;Q5H9T3;Q96DG1",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010526 transposable element silencing;GO:0006355 regulation of DNA-templated transcription",
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"hit_score": 2.8,
"record_id": "P17038-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H1B5-1",
"uniprot_id": [
{
"id": "XYLT2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H1B5",
"type": "external"
}
],
"mass": 96767.0,
"length": 865,
"protein_name": "Xylosyltransferase 2",
"gene_name": "XYLT2",
"organism": "Human",
"refseq_name": "xylosyltransferase 2 isoform 1",
"refseq_ac": [
{
"id": "NP_071450",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450",
"type": "external"
}
],
"gene_names_uniprotkb": "XYLT2; PRO9878; XT2",
"gene_names_refseq": "PXYLT2; SOS; XT-II; XT2; XYLT2; xylT-II",
"protein_names_uniprotkb": "Xylosyltransferase 2; 2.4.2.26; Peptide O-xylosyltransferase 1; XT-II; XylT-II; Xylosyltransferase II",
"protein_names_refseq": "UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase; peptide O-xylosyltransferase 1; protein xylosyltransferase 2; xylosyltransferase 2 isoform 1; xylosyltransferase II",
"tax_id": 9606,
"disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); spondylo-ocular syndrome (MONDO:MONDO:0011604)",
"pathway": " (hsa:64132); (R-HSA-1971475)",
"pathway_count": 2,
"publication_count": 80,
"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10473568;10506123;10842173;11099377;11237011;11551958;11877387;12522689;12975309;14993226;15294915;15461586;16571645;17189265;17194707;18023272;19473117;22424782;22810237;23481700;23584533;23656592;24425863;25418920;25521717;25576301;25748573;25813380;26027496;26154972;26375851;26992070;27862975;28467828;28832583;28904123;29136277;29242379;29393594;29493099;29557506;29632711;30429286;30459171;30496831;30779550;31154438;31530632;31677793;31844290;31848261;31973761;32157095;32265295;32350084;32357974;32387766;32488085;32938616;33298915;33392160;33592498;33609631;33912179;33968037;33981976;34357683;34405274;34509645;35051231;35251023;35318648;35561310;35580925;36010968;40307207;9506957;9892646",
"class_list": "glycogene;glycosyltransferase",
"function": "Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide., [RefSeq, PubMed]; Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; HEK293 cells lacking both XT-isoforms are not viable, [RefSeq, PubMed]; The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]., [RefSeq]; Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene, [RefSeq, PubMed]; We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species, [RefSeq, PubMed]",
"predicted_glycosites": 5,
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"reported_snv": 915,
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"biomarker_type": "",
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"secondary_ac_list": "Q6UY41;Q86V00",
"ec_number_list": [
{
"id": "2.4.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.26",
"type": "external"
}
],
"go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0030158 protein xylosyltransferase activity;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005576 extracellular region",
"go_biological_process": "GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0120532 glycosaminoglycan-protein linkage region biosynthetic process;GO:0030166 proteoglycan biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 10.0,
"record_id": "Q9H1B5-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.001.11000",
"kg_view_protein": true
},
{
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{
"id": "WIZ_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95785",
"type": "external"
}
],
"mass": 178674.0,
"length": 1651,
"protein_name": "Protein Wiz",
"gene_name": "WIZ",
"organism": "Human",
"refseq_name": "protein Wiz isoform 1",
"refseq_ac": [
{
"id": "NP_067064",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_067064",
"type": "external"
}
],
"gene_names_uniprotkb": "WIZ; ZNF803",
"gene_names_refseq": "WIZ; ZNF803",
"protein_names_uniprotkb": "Protein Wiz; Widely-interspaced zinc finger-containing protein; Zinc finger protein 803",
"protein_names_refseq": "protein Wiz isoform 1; protein Wiz; widely interspaced zinc finger motifs; widely-interspaced zinc finger-containing protein; zinc finger protein 803",
"tax_id": 9606,
"disease": "atherosclerosis (Disease Ontology:DOID:1936)",
"pathway": " (hsa:58525)",
"pathway_count": 1,
"publication_count": 62,
"publication_id_list": "11237011;16964243;17081983;18438403;18669648;18691976;19061646;19690332;20068231;21406692;22028470;23186163;23301498;24715725;25114211;25218447;25755297;25772364;25789554;26154972;26338712;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30524438;31844290;32157095;32387766;32502341;32897882;32938616;33141586;33298915;33465208;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35318648;35561310;36010968;36241641;36284347;37217939;37938771;38665916;40596516",
"class_list": "",
"function": "Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP. Erratum:[Elife. 2015 Apr 22;4. doi: 10.7554/eLife.08168. PMID: 25900010] Publication Status: Online-Only, [RefSeq, PubMed]; Disrupting the association of G9a-GLP with chromatin by depleting WIZ resulted in altered gene expression and protein-protein interactions that were distinguishable from that of small molecule-based inhibition of G9a/GLP, [RefSeq, PubMed]; May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]",
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"secondary_ac_list": "B3KVH1;B7ZM82;M0QY21;Q4G0E0;Q6P6B0;Q6ZN24;Q7LDY6;Q7LDZ1;Q96IG5;Q96SQ6;Q9BUR8;Q9NPT1",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0044877 protein-containing complex binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990226 histone methyltransferase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0050821 protein stabilization;GO:0010571 positive regulation of nuclear cell cycle DNA replication",
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"record_id": "O95785-1",
"record_type": "protein",
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},
{
"uniprot_canonical_ac": "Q9UI12-1",
"uniprot_id": [
{
"id": "VATH_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UI12",
"type": "external"
}
],
"mass": 55883.0,
"length": 483,
"protein_name": "V-type proton ATPase subunit H",
"gene_name": "ATP6V1H",
"organism": "Human",
"refseq_name": "V-type proton ATPase subunit H isoform 1",
"refseq_ac": [
{
"id": "NP_057025",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057025",
"type": "external"
}
],
"gene_names_uniprotkb": "ATP6V1H; CGI-11",
"gene_names_refseq": "ATP6V1H; CGI-11; MSTP042; NBP1; SFDalpha; SFDbeta; SFD; VMA13",
"protein_names_uniprotkb": "V-type proton ATPase subunit H; NBP1; Nef-binding protein 1; Protein VMA13 homolog; V-ATPase 50/57 kDa subunits; V-ATPase subunit H; Vacuolar proton pump subunit H; Vacuolar proton pump subunit SFD",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; V-ATPase 50/57 kDa subunits; V-ATPase subunit H; V-type proton ATPase subunit H isoform 1; V-type proton ATPase subunit H; nef-binding protein 1; protein VMA13 homolog; vacuolar ATP synthase subunit H; vacuolar ATPase subunit H; vacuolar proton pump subunit H; vacuolar proton pump subunit SFD",
"tax_id": 9606,
"disease": "osteoporosis (Disease Ontology:DOID:11476)",
"pathway": " (hsa:51606); (R-HSA-1222556); (R-HSA-167590); (R-HSA-182218); (R-HSA-77387); (R-HSA-917977); (R-HSA-9636467); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)",
"pathway_count": 10,
"publication_count": 189,
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"class_list": "",
"function": "ATP6V1H may represent a critical molecular mechanism involved in the development of type 2 diabetes and its compilations through its important regulatory effect on vacuolar-ATPase activity., [RefSeq, PubMed]; Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by Regulating ATP6V1H., [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. Subunit H is essential for V-ATPase activity, but not for the assembly of the complex. Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]",
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"secondary_ac_list": "B3KMR0;Q6PK44;Q9H3E3;Q9Y300",
"ec_number_list": [],
"go_molecular_function": "GO:0030234 enzyme regulator activity;GO:0046961 proton-transporting ATPase activity, rotational mechanism",
"go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006897 endocytosis;GO:0016241 regulation of macroautophagy;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0007035 vacuolar acidification",
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"hit_score": 19.2,
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"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9P2D8-1",
"uniprot_id": [
{
"id": "UNC79_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2D8",
"type": "external"
}
],
"mass": 295326.0,
"length": 2635,
"protein_name": "Protein unc-79 homolog",
"gene_name": "UNC79",
"organism": "Human",
"refseq_name": "protein unc-79 homolog isoform 2",
"refseq_ac": [
{
"id": "NP_065869",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065869",
"type": "external"
}
],
"gene_names_uniprotkb": "UNC79; KIAA1409",
"gene_names_refseq": "KIAA1409; UNC79",
"protein_names_uniprotkb": "Protein unc-79 homolog",
"protein_names_refseq": "protein unc-79 homolog isoform 2; protein unc-79 homolog; unc-79 homolog, NALCN channel complex subunit",
"tax_id": 9606,
"disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); alcohol use disorder (Disease Ontology:DOID:1574)",
"pathway": " (hsa:57578); (R-HSA-2672351)",
"pathway_count": 2,
"publication_count": 111,
"publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20158304;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23481700;23616951;24715725;2536303;25880248;26359375;26562072;26708753;27862975;28071645;28154142;28790369;29557506;29786170;30167850;31844290;32357974;32494638;32502341;32938616;32983136;33392160;34211107;34509645;34929720;35051231;35387979;35494241;37183800;38253038;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806",
"class_list": "",
"function": "A new neurodevelopmental disorder linked to heterozygous variants in UNC79., [RefSeq, PubMed]; Auxilary subunit of the NALCN channelosome complex, which regulates the resting membrane potential by depolarizing sodium leak currents (PubMed:32494638, PubMed:35387979, PubMed:34929720). The NALCN channelosome complex is a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:35387979, PubMed:34929720). The NALCN channelosome is constitutively active and conducts monovalent cations but is blocked by physiological concentrations of extracellular divalent cations (PubMed:32494638). Activated by neuropeptides substance P, neurotensin, and extracellular Ca(2+) that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; In the Australian GWAS, one SNP achieved genomewide significance for comorbid AD/ND, rs12882384 in KIAA1409 on chromosome 14 (p = 4.86 x 10(-8)))., [RefSeq, PubMed]; The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]., [RefSeq]; UNC79 variant is associated with neurodevelopmental diseases., [RefSeq, PubMed]; UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex, [RefSeq, PubMed]",
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"secondary_ac_list": "B5MDL6;Q6ZUT7",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0035725 sodium ion transmembrane transport;GO:0098908 regulation of neuronal action potential",
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"hit_score": 11.5,
"record_id": "Q9P2D8-1",
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},
{
"uniprot_canonical_ac": "Q06730-1",
"uniprot_id": [
{
"id": "ZN33A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q06730",
"type": "external"
}
],
"mass": 94384.0,
"length": 810,
"protein_name": "Zinc finger protein 33A",
"gene_name": "ZNF33A",
"organism": "Human",
"refseq_name": "zinc finger protein 33A isoform c",
"refseq_ac": [
{
"id": "NP_001265099",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265099",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF33A; KIAA0065; KOX31; ZNF11A; ZNF11; ZNF33",
"gene_names_refseq": "KOX2; KOX31; KOX5; NF11A; ZNF11A; ZNF11; ZNF33A; ZNF33; ZZAPK",
"protein_names_uniprotkb": "Zinc finger protein 33A; ZZaPK; Zinc finger and ZAK-associated protein with KRAB domain; Zinc finger protein 11A; Zinc finger protein KOX31",
"protein_names_refseq": "brain my041 protein; zinc finger and ZAK-associated protein with KRAB domain; zinc finger protein 11A; zinc finger protein 33A isoform c; zinc finger protein 33a (KOX 31); zinc finger protein KOX31",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7581); (R-HSA-212436); (R-HSA-9843940)",
"pathway_count": 3,
"publication_count": 45,
"publication_id_list": "10235266;10330177;11237011;11395415;11959841;12535642;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25218447;25274305;25576301;25755297;25892735;26813693;28273063;28904123;29493099;30315122;31217245;31289231;31427381;31844290;31848261;32157095;32554045;33912179;35132177;37217939;8183939;8464732;8769649;9016654;9637681;9653119",
"class_list": "",
"function": "Genome-wide copy number variation-, validation- and screening study implicates a new copy number polymorphism associated with suicide attempts in major depressive disorder., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results suggest that ZAK might play a role as an upstream signal to suppress the ZZaPK function and decrease E2F expression., [RefSeq, PubMed]; ZNF711 puts a spell on DNA. Review article, [RefSeq, PubMed]",
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"secondary_ac_list": "A8K9X9;B4E0M8;F6TH33;F8WAJ5;P17013;Q5VZ86",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription",
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},
{
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{
"id": "UNC5C_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95185",
"type": "external"
}
],
"mass": 103146.0,
"length": 931,
"protein_name": "Netrin receptor UNC5C",
"gene_name": "UNC5C",
"organism": "Human",
"refseq_name": "netrin receptor UNC5C precursor",
"refseq_ac": [
{
"id": "NP_003719",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003719",
"type": "external"
}
],
"gene_names_uniprotkb": "UNC5C; UNC5H3",
"gene_names_refseq": "UNC5C; UNC5H3",
"protein_names_uniprotkb": "Netrin receptor UNC5C; Protein unc-5 homolog 3; Protein unc-5 homolog C",
"protein_names_refseq": "netrin receptor UNC5C precursor; protein unc-5 homolog 3; protein unc-5 homolog C; unc-5 homolog 3; unc5 (C.elegans homolog) c",
"tax_id": 9606,
"disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348)",
"pathway": " (hsa:8633); (R-HSA-418886)",
"pathway_count": 2,
"publication_count": 28,
"publication_id_list": "11237011;12655055;12810718;15574733;22685302;23481700;24415873;25123307;25419706;26992070;27068745;28228285;28483977;29242379;29557506;30429286;30883345;31492838;31789389;31844290;32938616;33141586;33392160;33706130;35051231;35709926;38540364;9782087",
"class_list": "",
"function": "A global integrated analysis of UNC5C down-regulation in cancers: insights from mechanism and combined treatment strategy., [RefSeq, PubMed]; An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults., [RefSeq, PubMed]; Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis., [RefSeq, PubMed]; May represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis, [RefSeq, PubMed]; Receptor for netrin required for axon guidance (By similarity). Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). NTN1/Netrin-1 binding might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Might also collaborate with DSCAM in NTN1-mediated axon repulsion independently of DCC (By similarity). Also involved in corticospinal tract axon guidance independently of DCC (By similarity). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding., [UniProtKB, UniProtKB]; This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]., [RefSeq]; UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; UNC5Cknockdown enhances the growth and metastasis of breast cancer cells by potentiating the integrin alpha6/beta4 signaling pathway., [RefSeq, PubMed]",
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"biomarker_type": "",
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"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "Q8IUT0",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding;GO:0015631 tubulin binding;GO:0005042 netrin receptor activity;GO:0005043 netrin receptor activity involved in chemorepulsion",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030027 lamellipodium;GO:0030425 dendrite;GO:0030426 growth cone",
"go_biological_process": "GO:0006915 apoptotic process;GO:0007420 brain development;GO:0007411 axon guidance;GO:0061643 chemorepulsion of axon;GO:1990791 dorsal root ganglion development",
"synthesized_glycan_count": 0,
"hit_score": 3.1,
"record_id": "O95185-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5HYK9-1",
"uniprot_id": [
{
"id": "ZN667_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5HYK9",
"type": "external"
}
],
"mass": 70161.0,
"length": 610,
"protein_name": "Zinc finger protein 667",
"gene_name": "ZNF667",
"organism": "Human",
"refseq_name": "zinc finger protein 667 isoform 1",
"refseq_ac": [
{
"id": "NP_001308285",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308285",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF667",
"gene_names_refseq": "MIPU1; ZNF667",
"protein_names_uniprotkb": "Zinc finger protein 667",
"protein_names_refseq": "myocardial ischemic preconditioning upregulated 1 ortholog; zinc finger protein 667 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:63934); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 24,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28472789;30684967;31804468;32157095;32386033;32730776;32983136;35051231;36010968;36043524;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "Aberrant hypermethylation-mediated downregulation of antisense lncRNA ZNF667-AS1 and its sense gene ZNF667 correlate with progression and prognosis of esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulation of MIPU1 can promote apoptosis while inhibit the proliferation, invasion, and migration of U251 cells, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; MicroRNA-23b-3p participates in steroid-induced osteonecrosis of the femoral head by suppressing ZNF667 expression., [RefSeq, PubMed]; ZNF667 facilitates angiogenesis after myocardial ischemia through transcriptional regulation of VASH1 and Wnt signaling pathway., [RefSeq, PubMed]; ZNF667 promote the cell proliferation, invasion and migration mainly via interference expression of Bcl-2 and BAX., [RefSeq, PubMed]; ZNF667-AS1 and ZNF667 are both down-regulated by hypermethylation, and they serve as tumor suppressor genes in LSCC. ZNF667-AS1 regulates the expression of ZNF667 in cis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B2RMS6;B9EK36;Q6B093;Q9H807",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009891 positive regulation of biosynthetic process;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
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"record_id": "Q5HYK9-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IZH2-1",
"uniprot_id": [
{
"id": "XRN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IZH2",
"type": "external"
}
],
"mass": 194107.0,
"length": 1706,
"protein_name": "5'-3' exoribonuclease 1",
"gene_name": "XRN1",
"organism": "Human",
"refseq_name": "5'-3' exoribonuclease 1 isoform c",
"refseq_ac": [
{
"id": "NP_001269786",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269786",
"type": "external"
}
],
"gene_names_uniprotkb": "XRN1; SEP1",
"gene_names_refseq": "SEP1; XRN1",
"protein_names_uniprotkb": "5'-3' exoribonuclease 1; 3.1.13.-; Strand-exchange protein 1 homolog",
"protein_names_refseq": "5'-3' exoribonuclease 1 isoform c; strand-exchange protein 1 homolog",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652)",
"pathway": " (hsa:54464); (R-HSA-430039); (R-HSA-450385); (R-HSA-450513); (R-HSA-9918487)",
"pathway_count": 5,
"publication_count": 167,
"publication_id_list": "10330172;11237011;11283721;11719186;12198173;12218187;12324455;12417715;12426100;12486012;12515382;12639954;12646273;12705825;12748283;12923261;14527413;14580940;14688255;14749774;14976220;15014438;15085179;15117938;15231747;15475613;15538381;15687258;15711010;15944294;16051491;16141059;16246173;16262601;16299471;17030608;17133347;17245413;17369404;18039849;18172165;18326031;18367721;18481987;19061636;19239894;19279404;19664994;19729507;20068231;21876179;23125361;23186163;23481700;23756462;24715725;25220460;25418920;25469497;25576301;25645385;25892735;26154972;26375851;26735137;26758079;26768311;26811146;26929215;26992070;27397612;27543614;27600516;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29033321;29117567;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30410026;30429286;30620550;30779550;30833945;31154438;31217245;31222486;31492838;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32890404;32897882;32938616;32938750;32983136;33123756;33141586;33392160;33472058;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34266995;34311580;34357683;34405274;34561969;34611223;34696522;34932366;35051231;35132862;35154160;35254053;35318648;35561310;35580925;35585045;36010968;36215666;36241641;36284347;36300942;37217939;37541260;37938771;38177122;38665916;39531497;39534244;40307207;9049243;9802570",
"class_list": "",
"function": "Cellular 5'-3' mRNA Exoribonuclease XRN1 Inhibits Interferon Beta Activation and Facilitates Influenza A Virus Replication., [RefSeq, PubMed]; Dysregulated non-coding telomerase RNA component and associated exonuclease XRN1 in leucocytes from women developing preeclampsia-possible link to enhanced senescence. Erratum:[Sci Rep. 2021 Nov 15;11(1):22572. doi: 10.1038/s41598-021-00917-z. PMID: 34782619] Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide analyses of XRN1-sensitive targets in osteosarcoma cells identify disease-relevant transcripts containing G-rich motifs., [RefSeq, PubMed]; Host 5'-3' Exoribonuclease XRN1 Acts as a Proviral Factor for Measles Virus Replication by Downregulating the dsRNA-Activated Kinase PKR., [RefSeq, PubMed]; LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci, [RefSeq, PubMed]; Major 5'-3' exoribonuclease involved in mRNA decay (PubMed:18172165, PubMed:33472058). Required for the 5'-3'-processing of the G4 tetraplex-containing DNA and RNA substrates (By similarity). The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex (By similarity). Plays a role in replication-dependent histone mRNA degradation (PubMed:18172165). May act as a tumor suppressor protein in osteogenic sarcoma (OGS) (PubMed:12426100)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Mouse Xrn1 plays a role in RNA turnover., [RefSeq, PubMed]; This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]",
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"secondary_ac_list": "Q4G0S3;Q68D88;Q6AI24;Q6MZS8;Q86WS7;Q8N8U4;Q9UF39",
"ec_number_list": [
{
"id": "3.6.1.62",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62",
"type": "external"
},
{
"id": "3.1.13.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-",
"type": "external"
},
{
"id": "3.1.26.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-",
"type": "external"
}
],
"go_molecular_function": "GO:0003723 RNA binding;GO:0002151 G-quadruplex RNA binding;GO:0051880 G-quadruplex DNA binding;GO:0004534 5'-3' RNA exonuclease activity;GO:0070034 telomerase RNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite",
"go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0071028 nuclear mRNA surveillance;GO:0071409 cellular response to cycloheximide;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0017148 negative regulation of translation",
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},
{
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"uniprot_id": [
{
"id": "WFDC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IUB2",
"type": "external"
}
],
"mass": 24687.0,
"length": 231,
"protein_name": "WAP four-disulfide core domain protein 3",
"gene_name": "WFDC3",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 3 precursor",
"refseq_ac": [
{
"id": "NP_542181",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542181",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC3; WAP14",
"gene_names_refseq": "WAP14; WFDC3; dJ447F3.3",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 3; Putative protease inhibitor WAP14",
"protein_names_refseq": "WAP four-disulfide core domain protein 3 precursor; WAP four-disulfide core domain protein 3; protease inhibitor WAP14; putative protease inhibitor WAP14; whey acidic protein 14",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:140686)",
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"publication_count": 4,
"publication_id_list": "11237011;12206714;36284347;37861515",
"class_list": "",
"function": "High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis., [RefSeq, PubMed]; This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A6PVF2;Q0P6A5;Q3T1C5;Q8TC52;Q9BQP3;Q9BQP4",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q9NZQ8",
"type": "external"
}
],
"mass": 131451.0,
"length": 1165,
"protein_name": "Transient receptor potential cation channel subfamily M member 5",
"gene_name": "TRPM5",
"organism": "Human",
"refseq_name": "transient receptor potential cation channel subfamily M member 5",
"refseq_ac": [
{
"id": "NP_055370",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055370",
"type": "external"
}
],
"gene_names_uniprotkb": "TRPM5; LTRPC5; MTR1",
"gene_names_refseq": "LTRPC5; MTR1; TRPM5",
"protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 5; LTrpC-5; LTrpC5; Long transient receptor potential channel 5; MLSN1- and TRP-related gene 1 protein",
"protein_names_refseq": "MLSN1 and TRP-related; MLSN1- and TRP-related gene 1 protein; long transient receptor potential channel 5; transient receptor potential cation channel subfamily M member 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:29850); (R-HSA-3295583); (R-HSA-9717207)",
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"publication_id_list": "10607831;10761935;11050376;11226139;11237011;11243859;11301059;11917125;12015988;1325650;1422598;14634208;14657398;15353592;15385606;15731110;15738140;17081983;17167479;17506496;19104071;19696921;20022913;20025796;20033988;20716668;21422378;21795555;23632330;24157691;24214976;24360415;24633359;25389312;25765567;25853419;25855297;26377607;28256214;29466837;29557506;29659026;29744740;30013099;30563861;32521253;33773986;33979016;34168372;34767145;35051231;7720699;8288584;9065781",
"class_list": "",
"function": "Association of TRPM5 Asn235Ser Polymorphism and Trace Elements/Minerals in Chronic Gastritis Patients: a Case-Control Study., [RefSeq, PubMed]; Data show that extracellular acidification acts through specific residues on transient receptor potential cation channel, subfamily M(TRPM5) to block conduction through two distinct but related mechanisms, [RefSeq, PubMed]; Hair Follicle Chemosensation: TRPM5 Signaling Is Required for Anagen Maintenance., [RefSeq, PubMed]; Monovalent cation-selective ion channel activated by intracellular Ca(2+) in a voltage- and temperature-dependent manner (PubMed:14634208). Mediates the transport of Na(+), K(+) and Cs(+) ions equally well (PubMed:14634208). Activated directly by increase in intracellular Ca(2+), but is impermeable to it (PubMed:14634208). The activation mechanism of TRPM5 involves a multistep process. TRPM5 activation involves ligand binding (i.e., tastant molecule, glucose stimulation) to Gq/G protein-coupled receptors (GPCR) and leads to the breakdown of phosphatidylinositol bisphosphate (PIP2) into diacylglycerol (DAG) and inositol trisphosphate (IP3), IP3 binds to its receptors in the endoplasmic reticulum and cause calcium release. Simultaneously with the intracellular Ca(2+) release, DAG activates the protein kinase C (PKC), which phosphorylates the TRPM5 channel. This phosphorylation combined with the bound Ca(2+), leads to a robust inward current allowing the entry of sodium ions (Na+) into the cell. This ion influx depolarizes the cell membrane, generating action potentials that propagate TRPM5 signals. Is a key player in sensing sweet, umami and bitter stimuli (By similarity). Involved in insulin secretion by pancreatic beta cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; Novel association between a transient receptor potential cation channel subfamily M member 5 expression quantitative trait locus rs35197079 and decreased susceptibility of gestational diabetes mellitus in a Chinese population., [RefSeq, PubMed]; Regulation of TRPM5 by Ca2+ mediates sensory activation in the taste system, [RefSeq, PubMed]; TRPM5 Negatively Regulates Calcium-Dependent Responses in Lipopolysaccharide-Stimulated B Lymphocytes., [RefSeq, PubMed]; TRPM5 gene is imprinted, with preferential expression from the paternal allele., [RefSeq, PubMed]; TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i, [RefSeq, PubMed]; This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]., [RefSeq]",
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{
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"type": "external"
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],
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"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0034702 monoatomic ion channel complex",
"go_biological_process": "GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0098655 monoatomic cation transmembrane transport;GO:0070588 calcium ion transmembrane transport;GO:0030001 metal ion transport",
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},
{
"uniprot_canonical_ac": "Q9Y277-1",
"uniprot_id": [
{
"id": "VDAC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y277",
"type": "external"
}
],
"mass": 30659.0,
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"protein_name": "Non-selective voltage-gated ion channel VDAC3",
"gene_name": "VDAC3",
"organism": "Human",
"refseq_name": "non-selective voltage-gated ion channel VDAC3 isoform 2",
"refseq_ac": [
{
"id": "NP_001129166",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129166",
"type": "external"
}
],
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"gene_names_refseq": "HD-VDAC3; VDAC-3; VDAC3",
"protein_names_uniprotkb": "Non-selective voltage-gated ion channel VDAC3; Outer mitochondrial membrane protein porin 3; VDAC-3; hVDAC3",
"protein_names_refseq": "non-selective voltage-gated ion channel VDAC3 isoform 2; non-selective voltage-gated ion channel VDAC3; outer mitochondrial membrane protein porin 3; voltage-dependent anion-selective channel protein 3",
"tax_id": 9606,
"disease": "neurodegenerative disease (Disease Ontology:DOID:1289); retinal degeneration (Disease Ontology:DOID:8466)",
"pathway": " (hsa:7419); (R-HSA-5205685); (R-HSA-5689880); (R-HSA-8949215)",
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"class_list": "",
"function": "A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs). Publication Status: Online-Only, [RefSeq, PubMed]; Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance., [RefSeq, PubMed]; Non-selective voltage-gated ion channel that mediates the transport of anions and cations through the mitochondrion outer membrane and plasma membrane. Forms a high-conducting channel with a stable open state and a voltage-induced closure with a mild preference for anions over cations. Involved in male fertility and sperm mitochondrial sheath formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Specific Post-Translational Modifications of VDAC3 in ALS-SOD1 Model Cells Identified by High-Resolution Mass Spectrometry. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]",
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{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
"id": "1.8.5.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1",
"type": "external"
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
"type": "external"
},
{
"id": "5.6.1.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6",
"type": "external"
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],
"go_molecular_function": "GO:0005524 ATP binding;GO:0005244 voltage-gated monoatomic ion channel activity;GO:0015288 porin activity;GO:0008308 voltage-gated monoatomic anion channel activity;GO:0000166 nucleotide binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0015853 adenine transport;GO:0120317 sperm mitochondrial sheath assembly;GO:0055085 transmembrane transport",
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"record_id": "Q9Y277-1",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q5T0B9",
"type": "external"
}
],
"mass": 45814.0,
"length": 420,
"protein_name": "Zinc finger protein 362",
"gene_name": "ZNF362",
"organism": "Human",
"refseq_name": "zinc finger protein 362",
"refseq_ac": [
{
"id": "NP_689706",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_689706",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF362; PP6997",
"gene_names_refseq": "LIN29; RN; ZNF362; lin-29",
"protein_names_uniprotkb": "Zinc finger protein 362",
"protein_names_refseq": "rotund homolog; zinc finger protein 362",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:149076)",
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"publication_count": 49,
"publication_id_list": "11237011;15498874;20068231;24275569;24715725;25218447;25576301;25772364;26154972;27600516;28832583;28904123;29242379;29351928;30059200;30429286;31154438;31492838;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32574038;32938616;32938750;32983136;33214551;33298915;33968037;34019948;34171305;35132862;35254053;35289036;35513511;35580925;35705054;36010968;37340703;37541260;38665916;39302247;39531497;39534244;40307207;40596516",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
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},
{
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"uniprot_id": [
{
"id": "ZN384_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TF68",
"type": "external"
}
],
"mass": 63219.0,
"length": 577,
"protein_name": "Zinc finger protein 384",
"gene_name": "ZNF384",
"organism": "Human",
"refseq_name": "zinc finger protein 384 isoform c",
"refseq_ac": [
{
"id": "NP_001035009",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035009",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF384; CAGH1; CIZ; NMP4; TNRC1",
"gene_names_refseq": "CAGH1A; CAGH1; CIZ; ERDA2; NMP4; NP; TNRC1; ZNF384",
"protein_names_uniprotkb": "Zinc finger protein 384; CAG repeat protein 1; CAS-interacting zinc finger protein; Nuclear matrix protein 4; Nuclear matrix transcription factor 4; Trinucleotide repeat-containing gene 1 protein",
"protein_names_refseq": "CAG repeat protein 1; Cas-interacting zinc finger protein; expanded repeat domain, CAG/CTG 2; nuclear matrix transcription factor 4; trinucleotide repeat-containing gene 1 protein; zinc finger protein 384 isoform c",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:171017)",
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"publication_id_list": "11237011;12359745;15990865;18669648;20068231;23301498;26992070;28218747;28832583;28904123;29237092;29242379;29351928;29393594;29632046;30315122;30410026;30429286;31492838;31844290;32119511;32157095;32350084;32357974;32488085;32938616;32938750;33214551;33981976;34019948;35051231;35254053;35289036;35513511;35580925;36010968;36215666;36284347;38141017;38287528;38566191;38665916;39015025;39531497;40596516;9225980",
"class_list": "",
"function": "A Transcription Factor ZNF384, Regulated by LINC00265, Activates the Expression of IFI30 to Stimulate Malignant Progression in Glioma., [RefSeq, PubMed]; EP300-ZNF384 transactivates IL3RA to promote the progression of B-cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins., [RefSeq, PubMed]; The CIZ protein(also known as ZNF384)was involved and rearrangemented in acute leukemia., [RefSeq, PubMed]; The transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15., [RefSeq, PubMed]; This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]., [RefSeq]; Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ZNF384 fusion transcript levels for measurable residual disease monitoring in adult B-cell acute lymphoblastic leukemia., [RefSeq, PubMed]",
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},
{
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{
"id": "XKR6_HUMAN",
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}
],
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"protein_name": "XK-related protein 6",
"gene_name": "XKR6",
"organism": "Human",
"refseq_name": "XK-related protein 6",
"refseq_ac": [
{
"id": "NP_775954",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_775954",
"type": "external"
}
],
"gene_names_uniprotkb": "XKR6; C8orf21; C8orf5; C8orf7; XRG6",
"gene_names_refseq": "C8orf21; C8orf5; C8orf7; XKR6; XRG6",
"protein_names_uniprotkb": "XK-related protein 6",
"protein_names_refseq": "Transmembrane protein C8orf5; X Kell blood group precursor-related family, member 6; X-linked Kx blood group related 6; XK, Kell blood group complex subunit-related family, member 6; XK-related protein 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:286046)",
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"function": "XKR6 rs7014968 SNP Increases Serum Total Cholesterol Levels and the Risk of Coronary Heart Disease and Ischemic Stroke., [RefSeq, PubMed]; XKR6 rs7819412 A allele was related to increased serum triglyceride levels in coronary artery disease, total cholesterol levels in ischemic stroke patients and high risk of CAD and ischemic stroke. Publication Status: Online-Only, [RefSeq, PubMed]; XKR6 single nucleotide polymorphism rs7460469 is associated with childhood-onset systemic lupus erythematosus. Erratum:[Sci Rep. 2018 Jul 31;8(1):11713. doi: 10.1038/s41598-018-30082-9. PMID: 30065249] Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
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{
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}
],
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"protein_name": "Zinc finger protein 613",
"gene_name": "ZNF613",
"organism": "Human",
"refseq_name": "zinc finger protein 613 isoform 1",
"refseq_ac": [
{
"id": "NP_001026891",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026891",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 613 isoform 1",
"tax_id": 9606,
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"pathway": " (hsa:79898); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus",
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},
{
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{
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"type": "external"
}
],
"mass": 122274.0,
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"protein_name": "Zinc finger protein 658",
"gene_name": "ZNF658",
"organism": "Human",
"refseq_name": "zinc finger protein 658",
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{
"id": "NP_001304845",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304845",
"type": "external"
}
],
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"gene_names_refseq": "ZNF658",
"protein_names_uniprotkb": "Zinc finger protein 658",
"protein_names_refseq": "zinc finger protein 658",
"tax_id": 9606,
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"function": "Genomic Characterization of the Zinc Transcriptional Regulatory Element Reveals Potential Functional Roles of ZNF658, [RefSeq, PubMed]; Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5'-C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc-demanding process with the available zinc supply., [UniProtKB, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0042254 ribosome biogenesis;GO:0071294 cellular response to zinc ion",
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},
{
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{
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],
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"protein_name": "Zinc finger protein 800",
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"organism": "Human",
"refseq_name": "zinc finger protein 800 isoform 6",
"refseq_ac": [
{
"id": "NP_789784",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_789784",
"type": "external"
}
],
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"gene_names_refseq": "ZNF800",
"protein_names_uniprotkb": "Zinc finger protein 800",
"protein_names_refseq": "zinc finger protein 800 isoform 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:168850)",
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"publication_count": 51,
"publication_id_list": "11237011;15498874;18452278;18669648;19007248;19413330;19651622;19691289;20068231;23186163;24275569;25114211;25218447;25755297;25772364;26154972;26754738;26992070;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29557506;29632046;30315122;30429286;31217245;31492838;31844290;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33392160;33592498;33912179;33968037;34087483;34171305;34561969;34932366;35051231;35580925;37883554;40596516",
"class_list": "",
"function": "DNA-binding transcription repressor that acts as a master repressor of enteroendocrine cell differentiation (PubMed:37883554). Acts upstream of the endocrine gene network and directly represses expression of enteroendocrine transcription factors, such as NEUROG3, INSM1 and SOX4 (PubMed:37883554). In the intestine, prevents enterochromaffin cell differentiation by repressing expression of PAX4, a transcription factor that drives differentiation of enterochromaffin cell and restricts differentiation of other intestinal enteroendocrine cell types (PubMed:37883554). Also involved in the differentiation and development of type B pancreatic cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; Unbiased transcription factor CRISPR screen identifies ZNF800 as master repressor of enteroendocrine differentiation., [RefSeq, PubMed]",
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{
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{
"id": "VAS1_HUMAN",
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}
],
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"protein_name": "V-type proton ATPase subunit S1",
"gene_name": "ATP6AP1",
"organism": "Human",
"refseq_name": "V-type proton ATPase subunit S1 precursor",
"refseq_ac": [
{
"id": "NP_001174",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001174",
"type": "external"
}
],
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"gene_names_refseq": "16A; ATP6AP1; ATP6IP1; ATP6S1; Ac45; CF2; VATPS1; XAP-3; XAP3",
"protein_names_uniprotkb": "V-type proton ATPase subunit S1; Protein XAP-3; V-ATPase Ac45 subunit; V-ATPase S1 accessory protein; V-ATPase subunit S1; Vacuolar proton pump subunit S1",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1; ATPase, H+ transporting, lysosomal accessory protein 1; ATPase, H+ transporting, lysosomal interacting protein 1; H-ATPase subunit; V-ATPase Ac45 subunit; V-ATPase S1 accessory protein; V-ATPase subunit S1; V-type proton ATPase subunit S1 precursor; V-type proton ATPase subunit S1; X-associated protein 3; epididymis secretory sperm binding protein; protein XAP-3; vacuolar ATPase subunit S1; vacuolar proton pump subunit S1",
"tax_id": 9606,
"disease": "immunodeficiency 47 (Disease Ontology:DOID:0112002)",
"pathway": " (hsa:537); (R-HSA-77387); (R-HSA-8980692); (R-HSA-917977); (R-HSA-983712)",
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"class_list": "",
"function": "ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive analysis and verification. Publication Status: Online-Only, [RefSeq, PubMed]; Accessory subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:28296633, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (PubMed:28296633, PubMed:33065002). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity (PubMed:27231034). Involved in membrane trafficking and Ca(2+)-dependent membrane fusion (PubMed:27231034). May play a role in the assembly of the V-type ATPase complex (Probable). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). In islets of Langerhans cells, may regulate the acidification of dense-core secretory granules (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Expanding the phenotype of ATP6AP1 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing., [RefSeq, PubMed]; SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent pyroptosis by targeting ATP6AP1., [RefSeq, PubMed]; This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]., [RefSeq]",
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"go_cellular_component": "GO:0033176 proton-transporting V-type ATPase complex;GO:0016469 proton-transporting two-sector ATPase complex;GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0036035 osteoclast development;GO:0048388 endosomal lumen acidification;GO:0030641 regulation of cellular pH;GO:0007042 lysosomal lumen acidification",
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},
{
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{
"id": "VCX1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H320",
"type": "external"
}
],
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"protein_name": "Variable charge X-linked protein 1",
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"organism": "Human",
"refseq_name": "variable charge X-linked protein 1",
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{
"id": "NP_038480",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_038480",
"type": "external"
}
],
"gene_names_uniprotkb": "VCX; VCX10R; VCX1; VCXB1",
"gene_names_refseq": "VCX-10r; VCX-B1; VCX10R; VCX1; VCXB1; VCX",
"protein_names_uniprotkb": "Variable charge X-linked protein 1; VCX-10r; VCX-B1; Variable charge protein on X with ten repeats; Variably charged protein X-B1",
"protein_names_refseq": "variable charge X-linked protein 1; variable charge protein on X with ten repeats; variable charge, X chromosome; variably charged protein X-B1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26609)",
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"publication_id_list": "10607842;10903929;11237011;17342728;24970476;27705943;29731959;31161555;39894887",
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"function": "Human VCX/Y, SPANX, and CSAG2 gene families together with the murine SPANX gene and the CYPT family may share a common ancestor., [RefSeq, PubMed]; Identified members of the VCX/Y gene family as novel CT antigens., [RefSeq, PubMed]; Increasing copy number of VCX could upregulate the gene expression and regulate cell proliferation and apoptosis during spermatogenesis in non-obstructive azoospermia., [RefSeq, PubMed]; May mediate a process in spermatogenesis or may play a role in sex ratio distortion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SNPs and DNA methylation at the CHR X: 7810800 locus cooperatively regulate VCX expression in chronic hepatitis B (CHB). The upregulated VCX expression in female CHB patients might represent a mechanism of protection from more severe liver dysfunction and extensive fibrosis, as observed in male CHB patients., [RefSeq, PubMed]; This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]., [RefSeq]",
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},
{
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{
"id": "ZN787_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6DD87",
"type": "external"
}
],
"mass": 40428.0,
"length": 382,
"protein_name": "Zinc finger protein 787",
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"organism": "Human",
"refseq_name": "zinc finger protein 787 isoform 1",
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{
"id": "NP_001002836",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002836",
"type": "external"
}
],
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"protein_names_uniprotkb": "Zinc finger protein 787; TTF-I-interacting peptide 20",
"protein_names_refseq": "TTF-I-interacting peptide 20; transcription termination factor I interacting peptide 20; zinc finger protein 787 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:126208)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF787 and HDAC1 Mediate Blood-Brain Barrier Permeability in an In Vitro Model of Alzheimer's Disease Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus",
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},
{
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"uniprot_id": [
{
"id": "ZN468_HUMAN",
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"type": "external"
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],
"mass": 60573.0,
"length": 522,
"protein_name": "Zinc finger protein 468",
"gene_name": "ZNF468",
"organism": "Human",
"refseq_name": "zinc finger protein 468 isoform 2",
"refseq_ac": [
{
"id": "NP_001008801",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008801",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 468 isoform 2; zinc finger protein ZNF468",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90333); (R-HSA-212436)",
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"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16144304;16606702;16719718;2163759;26375851;26992070;29557506;30379171;32983136;35051231;35580925;38368674;39141315;8183939;8769649;9637681;9653119",
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"function": "2 splice variants ZNF468.1 and ZNF468.2 contain 11 C2H2-type zinc finger motifs at their C-termini. They are widely expressed in normal human tissues, except in heart and brain, and they are also co-expressional., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF468 inhibits irradiation-induced G2/M cell cycle arrest and apoptosis by facilitating AURKA transcription in Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; ZNF468-mediated epigenetic upregulation of VEGF-C facilitates lymphangiogenesis and lymphatic metastasis in ESCC via PI3K/Akt and ERK1/2 signaling pathways., [RefSeq, PubMed]",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q8IYN6",
"type": "external"
}
],
"mass": 17877.0,
"length": 164,
"protein_name": "UBA-like domain-containing protein 2",
"gene_name": "UBALD2",
"organism": "Human",
"refseq_name": "UBA-like domain-containing protein 2",
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{
"id": "NP_872371",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_872371",
"type": "external"
}
],
"gene_names_uniprotkb": "UBALD2; FAM100B",
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"protein_names_uniprotkb": "UBA-like domain-containing protein 2",
"protein_names_refseq": "UBA-like domain-containing protein 2; family with sequence similarity 100, member B; protein FAM100B",
"tax_id": 9606,
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"pathway": " (hsa:283991)",
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{
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{
"id": "ZN638_HUMAN",
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],
"mass": 220625.0,
"length": 1978,
"protein_name": "Zinc finger protein 638",
"gene_name": "ZNF638",
"organism": "Human",
"refseq_name": "zinc finger protein 638 isoform 1",
"refseq_ac": [
{
"id": "NP_001014972",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014972",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF638; NP220; ZFML",
"gene_names_refseq": "NP220; ZFML; ZNF638; Zfp638",
"protein_names_uniprotkb": "Zinc finger protein 638; CTCL-associated antigen se33-1; Cutaneous T-cell lymphoma-associated antigen se33-1; Nuclear protein 220; Zinc finger matrin-like protein",
"protein_names_refseq": "CTCL tumor antigen se33-1; CTCL-associated antigen se33-1; NP220 nuclear protein; cutaneous T-cell lymphoma-associated antigen se33-1; nuclear protein 220; zinc finger matrin-like protein; zinc finger protein 638 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27332); (R-HSA-381340)",
"pathway_count": 2,
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"publication_id_list": "10.1101/2023.09.13.557529;10075656;10425206;11095972;11149944;11237011;11813260;11872672;12213831;12829629;15273253;15850785;15919796;16380219;16565220;16964243;17011499;17081983;17525332;17547437;17924679;17980149;18077418;18452278;18669648;18691976;18931025;19007248;19043829;19115207;19172745;19413330;19651622;19664994;19664995;19690332;19691289;20068230;20068231;20101261;21406692;21602272;22645359;23186163;23239344;23301498;23481700;24129315;24275569;24715725;25505266;25548167;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30484775;30487602;30524438;30833945;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33040080;33123756;33141586;33214551;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34561969;34725712;34878926;34932366;35051231;35138101;35254053;35580925;36010968;36215666;36241641;36284347;38665916;39531497;39534244;40307207;40596516;8325954;8643605;8647861;8706692;8770873;8970730;9065481;9454824;9836620",
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"function": "Epigenetic Silencing of Recombinant Adeno-associated Virus Genomes by NP220 and the HUSH Complex., [RefSeq, PubMed]; The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that binds to cytidine clusters in double-stranded DNA (PubMed:30487602, PubMed:8647861). Plays a key role in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). Mediates transcriptional repression of unintegrated viral DNA by specifically binding to the cytidine clusters of retroviral DNA and mediating the recruitment of chromatin silencers, such as the HUSH complex, SETDB1 and the histone deacetylases HDAC1 and HDAC4 (PubMed:30487602). Acts as an early regulator of adipogenesis by acting as a transcription cofactor of CEBPs (CEBPA, CEBPD and/or CEBPG), controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). May also regulate alternative splicing of target genes during adipogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; USP7 mediates pathological hepatic de novo lipogenesis through promoting stabilization and transcription of ZNF638. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF638 is a novel and early regulator of adipogenesis that works as a transcription cofactor of C/EBPs., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck",
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},
{
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}
],
"mass": 38652.0,
"length": 338,
"protein_name": "Zona pellucida-binding protein 2",
"gene_name": "ZPBP2",
"organism": "Human",
"refseq_name": "zona pellucida-binding protein 2 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_942141",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_942141",
"type": "external"
}
],
"gene_names_uniprotkb": "ZPBP2; ZPBPL",
"gene_names_refseq": "ZPBP2; ZPBPL",
"protein_names_uniprotkb": "Zona pellucida-binding protein 2; ZPBP-like protein",
"protein_names_refseq": "ZPBP-like protein; zona pellucida-binding protein 2 isoform 1 precursor",
"tax_id": 9606,
"disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); asthma (Disease Ontology:DOID:2841); lung squamous cell carcinoma (Disease Ontology:DOID:3907); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:124626)",
"pathway_count": 1,
"publication_count": 12,
"publication_id_list": "11237011;12883658;17664285;19732864;21594610;25620289;25892735;26671913;28241063;29393594;31560728;33507524",
"class_list": "",
"function": "Data show that loss of zona pellucida binding proteins 1 and 2 in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. Erratum:[Mol Cell Biol. 2008 Apr;28(7):2495], [RefSeq, PubMed]; Is implicated in sperm-oocyte interaction during fertilization., [UniProtKB, UniProtKB]; Modest changes (8-13%) in promoter methylation levels of ZPBP2 and GSDMA may cause substantial changes in RNA levels and allelic expression of ZPBP2 and ORMDL3 is mediated by DNA methylation Publication Status: Online-Only, [RefSeq, PubMed]; Study of diurnal expression profiles of ZPBP2/Zpbp2, gasdermin B, and ORMDL3/Ormdl3 in human and mouse tissues revealed that Ormdl3 and Zpbp2 were controlled by the circadian clock in a tissue-specific fashion provided the first evidence that disease-associated genes Zpbp2 and Ormdl3 are regulated by circadian rhythms and the Zpbp2 region influences expression of the core clock gene Nr1d1. Publication Status: Online-Only, [RefSeq, PubMed]; The Germ Cell-Specific Markers ZPBP2 and PGK2 in Testicular Biopsies Can Predict the Presence as well as the Quality of Sperm in Non-obstructive Azoospermia Patients., [RefSeq, PubMed]; The allele T of rs10852936 surrounding the IKZF3-ZPBP2 locus confers risk for early-onset psoriasis., [RefSeq, PubMed]; The disease-linked haplotype and putative causal DNA variants of ZPBP2/GSDMB/ORMDL3 locus via a combination of genetic and functional analyses, were identified. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately., [RefSeq, PubMed]",
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"secondary_ac_list": "A8K8L8;Q6X783;Q86XL5",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0001669 acrosomal vesicle;GO:0044297 cell body;GO:0002199 zona pellucida receptor complex",
"go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0001675 acrosome assembly",
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},
{
"uniprot_canonical_ac": "Q15061-1",
"uniprot_id": [
{
"id": "WDR43_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15061",
"type": "external"
}
],
"mass": 74891.0,
"length": 677,
"protein_name": "WD repeat-containing protein 43",
"gene_name": "WDR43",
"organism": "Human",
"refseq_name": "WD repeat-containing protein 43",
"refseq_ac": [
{
"id": "NP_055946",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946",
"type": "external"
}
],
"gene_names_uniprotkb": "WDR43; KIAA0007; UTP5",
"gene_names_refseq": "NET12; UTP5; WDR43",
"protein_names_uniprotkb": "WD repeat-containing protein 43; U3 small nucleolar RNA-associated protein 5 homolog",
"protein_names_refseq": "U3 small nucleolar RNA-associated protein 5 homolog; UTP5, small subunit (SSU) processome component, homolog; WD repeat-containing protein 43",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23160); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
"publication_count": 152,
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"class_list": "",
"function": "Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751, PubMed:34516797). Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; WD repeat domain 43 as a new predictive indicator and its connection with tumor immune cell infiltration in pan-cancer., [RefSeq, PubMed]",
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"secondary_ac_list": "Q15395;Q92577",
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"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0000785 chromatin;GO:0032040 small-subunit processome",
"go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045943 positive regulation of transcription by RNA polymerase I;GO:2000036 regulation of stem cell population maintenance",
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},
{
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{
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}
],
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"protein_name": "Zinc finger protein 211",
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"refseq_name": "zinc finger protein 211 isoform 3",
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{
"id": "NP_001252526",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252526",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF211",
"gene_names_refseq": "C2H2-25; CH2H2-25; ZNF-25; ZNF211",
"protein_names_uniprotkb": "Zinc finger protein 211; Zinc finger protein C2H2-25",
"protein_names_refseq": "zinc finger protein 211 isoform 3; zinc finger protein C2H2-25",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10520); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. This protein may play a role in developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription",
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},
{
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{
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}
],
"mass": 55049.0,
"length": 514,
"protein_name": "Thymus-specific serine protease",
"gene_name": "PRSS16",
"organism": "Human",
"refseq_name": "thymus-specific serine protease isoform 1",
"refseq_ac": [
{
"id": "NP_005856",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005856",
"type": "external"
}
],
"gene_names_uniprotkb": "PRSS16; TSSP",
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"protein_names_uniprotkb": "Thymus-specific serine protease; 3.4.-.-; Serine protease 16",
"protein_names_refseq": "protease, serine 16; protease, serine, 16 (thymus); thymus specific serine peptidase; thymus-specific serine protease isoform 1; thymus-specific serine protease",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10279)",
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"publication_id_list": "10527559;11237011;12140752;19571809;22384243;22488895;24715725;25505266;29061767;30315122;30418433;32488085;35051231",
"class_list": "",
"function": "Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protease that may play a role in T-cell development., [UniProtKB]; The gene encoding thymus-specific serine protease (PRSS16) maps to the extended HLA complex, which harbours several genes predisposing for autoimmune diseases., [RefSeq, PubMed]; The genes HIST1H2BJ, PRSS16, and PGBD1 were not associated with Japanese patients with schizophrenia., [RefSeq, PubMed]; The level of TSSP expression by thymic dendritic cells may modify the risk factors for multiple sclerosis conferred by some MHC class II haplotypes, [RefSeq, PubMed]; This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF804a regulates expression of the schizophrenia-associated genes PRSS16, COMT, PDE4B, and DRD2, [RefSeq, PubMed]",
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},
{
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{
"id": "ZN257_HUMAN",
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"type": "external"
}
],
"mass": 65779.0,
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"protein_name": "Zinc finger protein 257",
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{
"id": "NP_001303925",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303925",
"type": "external"
}
],
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"protein_names_refseq": "bone marrow zinc finger 4; zinc finger protein 257 isoform b",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:113835); (R-HSA-212436); (R-HSA-9843940)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; One of the breakpoints disrupts the transcription factor gene ZNF257, causing a significant reduction in the total expression level of this gene in lymphoblastoid cell lines Publication Status: Online-Only, [RefSeq, PubMed]",
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"protein_name": "V-type proton ATPase 116 kDa subunit a 3",
"gene_name": "TCIRG1",
"organism": "Human",
"refseq_name": "V-type proton ATPase 116 kDa subunit a 3 isoform a",
"refseq_ac": [
{
"id": "NP_006010",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006010",
"type": "external"
}
],
"gene_names_uniprotkb": "TCIRG1; ATP6N1C; ATP6V0A3",
"gene_names_refseq": "ATP6N1C; ATP6V0A3; Atp6i; OC-116kDa; OC116; OPTB1; Stv1; TCIRG1; TIRC7; Vph1; a3",
"protein_names_uniprotkb": "V-type proton ATPase 116 kDa subunit a 3; OC-116 kDa; OC116; Osteoclastic proton pump 116 kDa subunit; T-cell immune regulator 1; T-cell immune response cDNA7 protein; TIRC7; V-ATPase 116 kDa subunit a 3; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3",
"protein_names_refseq": "ATPase, H+ transporting, 116kD; T-cell immune response cDNA 7; T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a; T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3; V-ATPase 116 kDa subunit a 3; V-ATPase 116 kDa subunit a3; V-ATPase 116-kDa; V-ATPase subunit a3; V-type proton ATPase 116 kDa subunit a 3 isoform a; V-type proton ATPase 116 kDa subunit a 3; V-type proton ATPase 116 kDa subunit a3; V-type proton ATPase 116 kDa subunit a; osteoclastic proton pump 116 kDa subunit; specific 116-kDa vacuolar proton pump subunit; vacuolar proton translocating ATPase 116 kDa subunit A",
"tax_id": 9606,
"disease": "autosomal recessive osteopetrosis 1 (Disease Ontology:DOID:0110942); clubfoot (Disease Ontology:DOID:11836); osteopetrosis (Disease Ontology:DOID:13533); renal tubular acidosis (Disease Ontology:DOID:14219); Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:10312); (R-HSA-1222556); (R-HSA-6798695); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)",
"pathway_count": 7,
"publication_count": 156,
"publication_id_list": "10029572;10329006;10409623;10802645;11237011;11237855;11532986;11779865;11800564;11970843;12531241;12552563;15300850;15809087;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18578522;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22424782;22575674;22980980;23481700;23650620;23723238;24081491;24095279;24715725;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25819761;25892735;26154972;26205815;26375851;26449471;26586190;26972053;26992070;27308486;27452731;27487210;27600516;27648300;27846572;27920218;28066558;28199306;28199315;28218747;28228285;2825632;28467828;2848506;28514659;28832583;28904123;29053970;29056322;29123071;29236692;29242379;29314611;29331515;29393594;29437277;29508533;29557506;29596046;29769354;29786170;2986535;30061680;30181260;30315122;30337524;30410026;30429286;30524438;3061785;30651352;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33392160;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34725712;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37107657;37938771;38261998;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8579597;8682206;8692836;8995282;9465039;9609117;9793760",
"class_list": "",
"function": "Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene., [RefSeq, PubMed]; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Seems to be directly involved in T-cell activation (PubMed:10329006)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]., [RefSeq]; We validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_mutagensis": 0,
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"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 5,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "O75877;Q8WVC5",
"ec_number_list": [],
"go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism",
"go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane;GO:0030670 phagocytic vesicle membrane",
"go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0006968 cellular defense response;GO:0016236 macroautophagy;GO:0001503 ossification;GO:0007042 lysosomal lumen acidification",
"synthesized_glycan_count": 0,
"hit_score": 15.9,
"record_id": "Q13488-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q2M3W8-1",
"uniprot_id": [
{
"id": "ZN181_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q2M3W8",
"type": "external"
}
],
"mass": 65842.0,
"length": 571,
"protein_name": "Zinc finger protein 181",
"gene_name": "ZNF181",
"organism": "Human",
"refseq_name": "zinc finger protein 181 isoform 1",
"refseq_ac": [
{
"id": "NP_001025168",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025168",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF181",
"gene_names_refseq": "HHZ181; ZNF181",
"protein_names_uniprotkb": "Zinc finger protein 181; HHZ181",
"protein_names_refseq": "zinc finger protein 181 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:339318)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "11237011;25218447;26992070;28904123;29242379;29557506;31154438;31217245;31844290;31848261;32157095;32387766;33936100;34087483;35580925",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]., [RefSeq]",
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"secondary_ac_list": "B7ZKX3;Q49A75",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 1.6,
"record_id": "Q2M3W8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17023-1",
"uniprot_id": [
{
"id": "ZNF19_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17023",
"type": "external"
}
],
"mass": 52449.0,
"length": 458,
"protein_name": "Zinc finger protein 19",
"gene_name": "ZNF19",
"organism": "Human",
"refseq_name": "zinc finger protein 19",
"refseq_ac": [
{
"id": "NP_008892",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008892",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF19; KOX12",
"gene_names_refseq": "KOX12; ZNF19",
"protein_names_uniprotkb": "Zinc finger protein 19; Zinc finger protein KOX12",
"protein_names_refseq": "zinc finger protein 19 (KOX 12); zinc finger protein 19; zinc finger protein KOX12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7567); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 26,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;1946370;2163759;2288909;28228285;30315122;30379171;31844290;32357974;33091337;33298915;33912179;35051231;39894887;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8K895;Q86Y66;Q8NDE2;Q96M79;Q96NE5",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 2.9,
"record_id": "P17023-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5MNZ9-1",
"uniprot_id": [
{
"id": "WIPI1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5MNZ9",
"type": "external"
}
],
"mass": 48673.0,
"length": 446,
"protein_name": "WD repeat domain phosphoinositide-interacting protein 1",
"gene_name": "WIPI1",
"organism": "Human",
"refseq_name": "WD repeat domain phosphoinositide-interacting protein 1 isoform b",
"refseq_ac": [
{
"id": "NP_001307701",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307701",
"type": "external"
}
],
"gene_names_uniprotkb": "WIPI1; WIPI49",
"gene_names_refseq": "ATG18A; ATG18; WIPI1; WIPI49",
"protein_names_uniprotkb": "WD repeat domain phosphoinositide-interacting protein 1; Atg18 protein homolog; WD40 repeat protein interacting with phosphoinositides of 49 kDa; WIPI 49 kDa; WIPI-1",
"protein_names_refseq": "WD repeat domain phosphoinositide-interacting protein 1 isoform b; WD repeat domain phosphoinositide-interacting protein 1; WIPI-1 alpha; atg18 protein homolog",
"tax_id": 9606,
"disease": "Huntington's disease (Disease Ontology:DOID:12858)",
"pathway": " (hsa:55062); (R-HSA-1632852); (R-HSA-381038)",
"pathway_count": 3,
"publication_count": 90,
"publication_id_list": "10601334;10827079;11096062;11237011;11825910;12204115;15020712;15187094;15466936;15602573;16461360;16539657;16963840;17618624;18321988;18439900;18664523;19211835;19322194;19590496;19855179;19898463;19936222;20059746;20114074;20484055;20529838;20639694;20713597;20921139;21177865;21205641;21258367;21282569;21317285;21383122;21460621;21564513;21819378;21896713;22170151;22682742;22829830;23088497;23202584;23685627;23727157;23884233;24366607;24747438;24954904;25484072;25568151;25576301;26960196;27846572;27920218;28218747;28561066;28832583;28904123;29242379;29769354;29786170;30410026;30524438;31271352;31844290;32157095;32350084;32357974;32938616;33499712;33636294;33685363;33912179;34689010;34932366;35051231;35154160;36010968;36241641;37340703;37620393;7590364;7628435;8666242;9037597;9450183;9473480",
"class_list": "",
"function": "Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:15602573, PubMed:20114074, PubMed:20484055, PubMed:20639694, PubMed:23088497, PubMed:28561066, PubMed:31271352). Plays an important role in starvation- and calcium-mediated autophagy, as well as in mitophagy (PubMed:28561066). Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phosphoinositides including PtdIns3,5P2 and PtdIns5P, and is recruited to phagophore assembly sites at the endoplasmic reticulum membranes (PubMed:28561066, PubMed:31271352, PubMed:33499712). There, it assists WIPI2 in the recruitment of ATG12-ATG5-ATG16L1, a complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:28561066). Together with WDR45/WIPI4, promotes ATG2 (ATG2A or ATG2B)-mediated lipid transfer by enhancing ATG2-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Involved in xenophagy of Staphylococcus aureus (PubMed:22829830). Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation (PubMed:22829830). Also plays a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy (PubMed:21317285). May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway (PubMed:15020712)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Quantification of WIPI-1 puncta should be suitable to assay mammalian autophagy, [RefSeq, PubMed]; Share an evolutionary conserved function in autophagy and that autophagic capacity may be compromised in human cancers, [RefSeq, PubMed]; The ABL-MYC axis controls WIPI1-enhanced autophagy in lifespan extension. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; WIPI-1 inhibits metastasis and tumour growth via the WIPI-1-TRIM21 axis and MYC regulation in nasopharyngeal carcinoma., [RefSeq, PubMed]; WIPI1 promotes fission of endosomal transport carriers and formation of autophagosomes through distinct mechanisms., [RefSeq, PubMed]; WIPI1 promotes osteosarcoma cell proliferation by inhibiting CDKN1A., [RefSeq, PubMed]",
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"secondary_ac_list": "Q8IXM5;Q9NWF8",
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"go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0030331 nuclear estrogen receptor binding;GO:0032266 phosphatidylinositol-3-phosphate binding",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol",
"go_biological_process": "GO:0000045 autophagosome assembly;GO:0006914 autophagy;GO:0034497 protein localization to phagophore assembly site;GO:0009267 cellular response to starvation;GO:0048203 vesicle targeting, trans-Golgi to endosome",
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},
{
"uniprot_canonical_ac": "O75290-1",
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{
"id": "Z780A_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75290",
"type": "external"
}
],
"mass": 74531.0,
"length": 641,
"protein_name": "Zinc finger protein 780A",
"gene_name": "ZNF780A",
"organism": "Human",
"refseq_name": "zinc finger protein 780A isoform b",
"refseq_ac": [
{
"id": "NP_001010880",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010880",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF780A",
"gene_names_refseq": "ZNF780A; ZNF780",
"protein_names_uniprotkb": "Zinc finger protein 780A",
"protein_names_refseq": "zinc finger protein 780A isoform b",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:284323)",
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},
{
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{
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{
"id": "NP_001284477",
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}
],
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"function": "Interaction between ZNF131 and ERalpha interrupts or prevents ERalpha binding to the estrogen response element. ZNF131 also suppresses the expression of TFF1. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown circZNF131 Inhibits Cell Progression and Glycolysis in Gastric Cancer Through miR-186-5p/PFKFB2 Axis., [RefSeq, PubMed]; Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling., [UniProtKB, PubMed, PubMed]; SUMOylation is a novel regulator of ZNF131 action in estrogen signaling and breast cancer cell proliferation., [RefSeq, PubMed]; The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes., [RefSeq, PubMed]; The mechanism of Znf131 nuclear localization, is reported., [RefSeq, PubMed]; YAP1-activated ZNF131 promotes hepatocellular carcinoma cell proliferation through transcriptional regulation of PAIP1., [RefSeq, PubMed]",
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}
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{
"id": "NP_001152765",
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"type": "external"
}
],
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},
{
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{
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],
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{
"id": "NP_001073962",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073962",
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}
],
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},
{
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{
"id": "XKR2_HUMAN",
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"type": "external"
}
],
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"protein_name": "XK-related protein 2",
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{
"id": "NP_997724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_997724",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
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"function": "This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]., [RefSeq]; XPLAC is expressed mostly in placenta and adrenal gland while XTES is exclusively expressed in primate testis, [RefSeq, PubMed]",
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},
{
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],
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"protein_name": "Endogenous retrovirus group K member 104 Pro protein",
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"function": "Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity)., [UniProtKB]",
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},
{
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"id": "YTHD1_HUMAN",
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}
],
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"protein_name": "YTH domain-containing family protein 1",
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{
"id": "NP_060268",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060268",
"type": "external"
}
],
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"protein_names_uniprotkb": "YTH domain-containing family protein 1; DACA-1; DF1; Dermatomyositis associated with cancer putative autoantigen 1",
"protein_names_refseq": "DACA-1; YTH N(6)-methyladenosine RNA binding protein 1; YTH N6-methyladenosine RNA binding protein 1; YTH domain family 1; YTH domain family protein 1; YTH domain family, member 1; YTH domain-containing family protein 1; dermatomyositis associated with cancer putative autoantigen 1",
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"disease": "disease of metabolism (Disease Ontology:DOID:0014667); colorectal cancer (Disease Ontology:DOID:9256)",
"pathway": " (hsa:54915)",
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"class_list": "",
"function": "KIAA1429 increases FOXM1 expression through YTHDF1-mediated m6A modification to promote aerobic glycolysis and tumorigenesis in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress m6A-Dependent Oncogenic Translation and Colorectal Tumorigenesis., [RefSeq, PubMed]; Specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs, and regulates their stability (PubMed:24284625, PubMed:26318451, PubMed:32492408, PubMed:39900921). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:24284625, PubMed:32492408). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT complex (PubMed:32492408). The YTHDF paralogs (YTHDF1, YTHDF2 and YTHDF3) shares m6A-containing mRNAs targets and act redundantly to mediate mRNA degradation and cellular differentiation (PubMed:28106072, PubMed:32492408). Required to facilitate learning and memory formation in the hippocampus by binding to m6A-containing neuronal mRNAs (By similarity). Acts as a regulator of axon guidance by binding to m6A-containing ROBO3 transcripts (By similarity). Acts as a negative regulator of antigen cross-presentation in myeloid dendritic cells (By similarity). In the context of tumorigenesis, negative regulation of antigen cross-presentation limits the anti-tumor response by reducing efficiency of tumor-antigen cross-presentation (By similarity). Promotes formation of phase-separated membraneless compartments, such as P-bodies or stress granules, by undergoing liquid-liquid phase separation upon binding to mRNAs containing multiple m6A-modified residues: polymethylated mRNAs act as a multivalent scaffold for the binding of YTHDF proteins, juxtaposing their disordered regions and thereby leading to phase separation (PubMed:31292544, PubMed:31388144, PubMed:32451507). The resulting mRNA-YTHDF complexes then partition into different endogenous phase-separated membraneless compartments, such as P-bodies, stress granules or neuronal RNA granules (PubMed:31292544)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; YTHDF1 facilitates esophageal cancer progression via augmenting m6A-dependent TINAGL1 translation., [RefSeq, PubMed]; YTHDF1 regulates GID8-mediated glutamine metabolism to promote colorectal cancer progression in m6A-dependent manner., [RefSeq, PubMed]",
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"secondary_ac_list": "Q8N3G5;Q8TBT1;Q96AN4;Q96S57;Q9BTI7;Q9NX79",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043022 ribosome binding;GO:1990247 N6-methyladenosine-containing RNA reader activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule",
"go_biological_process": "GO:1902667 regulation of axon guidance;GO:0007612 learning;GO:0007613 memory;GO:0043488 regulation of mRNA stability;GO:0045727 positive regulation of translation",
"synthesized_glycan_count": 0,
"hit_score": 13.4,
"record_id": "Q9BYJ9-1",
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"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q68EA5-1",
"uniprot_id": [
{
"id": "ZNF57_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q68EA5",
"type": "external"
}
],
"mass": 64428.0,
"length": 555,
"protein_name": "Zinc finger protein 57",
"gene_name": "ZNF57",
"organism": "Human",
"refseq_name": "zinc finger protein 57 isoform 2",
"refseq_ac": [
{
"id": "NP_001306012",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306012",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF57; ZNF424",
"gene_names_refseq": "ZNF424; ZNF57",
"protein_names_uniprotkb": "Zinc finger protein 57; Zinc finger protein 424",
"protein_names_refseq": "zinc finger protein 424; zinc finger protein 57 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:126295)",
"pathway_count": 1,
"publication_count": 14,
"publication_id_list": "11237011;20356463;26992070;28411811;29242379;29393594;29632046;29974829;31217245;31844290;32897882;32983136;34932366;38167704",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; TMIGD2 is an orchestrator and therapeutic target on human acute myeloid leukemia stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; These are the first data to associate ZNF424 with tumorigenesis and demonstrate an inhibitory role in lung cancer, indicating the potential of ZNF424 expression as a diagnostic marker of lung tumorigenesis., [RefSeq, PubMed]; ZNF424 protein may act as a transcriptional repressor that suppresses NFAT and p21 pathway to mediate cellular functions., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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"record_id": "Q68EA5-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NRM2-1",
"uniprot_id": [
{
"id": "ZN277_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NRM2",
"type": "external"
}
],
"mass": 52788.0,
"length": 450,
"protein_name": "Zinc finger protein 277",
"gene_name": "ZNF277",
"organism": "Human",
"refseq_name": "zinc finger protein 277",
"refseq_ac": [
{
"id": "NP_068834",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_068834",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF277; NRIF4; ZNF277P",
"gene_names_refseq": "NRIF4; ZNF277P; ZNF277",
"protein_names_uniprotkb": "Zinc finger protein 277; Nuclear receptor-interacting factor 4",
"protein_names_refseq": "nuclear receptor-interacting factor 4; zinc finger protein (C2H2 type) 277; zinc finger protein 277 pseudogene; zinc finger protein 277",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11179)",
"pathway_count": 1,
"publication_count": 31,
"publication_id_list": "10860669;11237011;16959974;20068231;22645359;24518835;26154972;26992070;27846572;28904123;29493099;30379171;30530495;31844290;32157095;32357974;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34561969;34932366;35051231;36010968;36241641",
"class_list": "",
"function": "Probable transcription factor. Involved in modulation of cellular senescence; represses transcription of the tumor suppressor gene INK4A/ARF, perhaps acting via the Polycomb group (PcG) complex PRC1., [UniProtKB, UniProtKB]; ZNF277 and PRMT3 compete for uS5 binding, because overexpression of PRMT3 inhibited the formation of the ZNF277-uS5 complex, whereas depletion of cellular ZNF277 resulted in increased levels of uS5-PRMT3., [RefSeq, PubMed]; ZNF277 microdeletions might contribute to the risk of language impairments, [RefSeq, PubMed]",
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"secondary_ac_list": "Q75MZ2;Q75MZ3;Q8WY14",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription",
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"record_id": "Q9NRM2-1",
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"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NSD4-1",
"uniprot_id": [
{
"id": "ZN275_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NSD4",
"type": "external"
}
],
"mass": 48443.0,
"length": 429,
"protein_name": "Zinc finger protein 275",
"gene_name": "ZNF275",
"organism": "Human",
"refseq_name": "zinc finger protein 275 isoform 1",
"refseq_ac": [
{
"id": "NP_001354686",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354686",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF275",
"gene_names_refseq": "ZNF275",
"protein_names_uniprotkb": "Zinc finger protein 275",
"protein_names_refseq": "zinc finger protein 275 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10838)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "10854409;11237011;23186163;25576301;25880248;28904123;29557506;29632046;29786170;30379171;30429286;31154438;32357974;32983136;33981976",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]., [RefSeq]",
"predicted_glycosites": 0,
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"secondary_ac_list": "A6NE92",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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"record_id": "Q9NSD4-1",
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},
{
"uniprot_canonical_ac": "P15621-1",
"uniprot_id": [
{
"id": "ZNF44_HUMAN",
"url": "https://www.uniprot.org/uniprot/P15621",
"type": "external"
}
],
"mass": 76524.0,
"length": 663,
"protein_name": "Zinc finger protein 44",
"gene_name": "ZNF44",
"organism": "Human",
"refseq_name": "zinc finger protein 44 isoform 1",
"refseq_ac": [
{
"id": "NP_001157748",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157748",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF44; GIOT2; KOX7; ZNF55; ZNF58",
"gene_names_refseq": "GIOT-2; KOX7; ZNF44; ZNF504; ZNF55; ZNF58; ZNF",
"protein_names_uniprotkb": "Zinc finger protein 44; GIOT-2; Gonadotropin-inducible ovary transcription repressor 2; Zinc finger protein 55; Zinc finger protein 58; Zinc finger protein KOX7",
"protein_names_refseq": "gonadotropin inducible transcription repressor-2; gonadotropin-inducible ovary transcription repressor 2; zinc finger protein 44 isoform 1; zinc finger protein 55; zinc finger protein 58; zinc finger protein KOX7; zinc finger protein ZnFP12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51710)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "11237011;2288909;24715725;26992070;29242379;31217245;31844290;37161925;39894887",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; RNA-Sequencing Combined With Genome-Wide Allele-Specific Expression Patterning Identifies ZNF44 Variants as a Potential New Driver Gene for Pediatric Neuroblastoma., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DML9;B9EGJ5;B9ZVM2;P17018;Q9ULZ7",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0000122 negative regulation of transcription by RNA polymerase II",
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"hit_score": 1.2,
"record_id": "P15621-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9HCX3-1",
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{
"id": "ZN304_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HCX3",
"type": "external"
}
],
"mass": 75047.0,
"length": 659,
"protein_name": "Zinc finger protein 304",
"gene_name": "ZNF304",
"organism": "Human",
"refseq_name": "zinc finger protein 304 isoform 2",
"refseq_ac": [
{
"id": "NP_065708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065708",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF304",
"gene_names_refseq": "ZNF304",
"protein_names_uniprotkb": "Zinc finger protein 304; KRAB-containing zinc finger protein",
"protein_names_refseq": "KRAB-containing zinc finger protein; zinc finger protein 304 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57343); (R-HSA-212436)",
"pathway_count": 2,
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"publication_id_list": "10235266;10330177;11237011;11395415;12051768;14519192;15175151;15896744;16606702;16719718;2163759;23271734;24623306;26081979;26992070;28904123;30379171;30779550;31844290;32157095;32387766;32897882;32938616;32956422;33981976;34087483;35051231;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "Acts as a transcriptional regulator and plays a role in gene silencing (PubMed:24623306, PubMed:26081979). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of 'Lys-27' of histone H3 (H3K27me3) (PubMed:24623306) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter regions of TSGs and mediates the recruitment of the corepressor complex containing the scaffolding protein TRIM28, methyltransferase DNMT1 and histone methyltransferase SETDB1 and/or the PcG complexes at those sites (PubMed:24623306). Transcription factor involved in the metastatic cascade process by inducing cell migration and proliferation and gain resistance to anoikis of ovarian carcinoma (OC) cells via integrin-mediated signaling pathways (PubMed:26081979). Associates with the ITGB1 promoter and positively regulates beta-1 integrin transcription expression (PubMed:26081979). Promotes angiogenesis (PubMed:26081979). Promotes tumor growth (PubMed:24623306, PubMed:26081979)., [UniProtKB, PubMed, PubMed]; Genome-wide CRISPR knockout screen identifies ZNF304 as a silencer of HIV transcription that promotes viral latency. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of ZNF304, by AU-motif-directed display method and characterization of its role in lymphocyte activation, [RefSeq, PubMed]; This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcriptional regulator of beta1 integrin, promotes cancer cell survival and protects against anoikis in ovarian cancer Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990841 promoter-specific chromatin binding;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007229 integrin-mediated signaling pathway",
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},
{
"uniprot_canonical_ac": "Q86UX7-1",
"uniprot_id": [
{
"id": "URP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86UX7",
"type": "external"
}
],
"mass": 75953.0,
"length": 667,
"protein_name": "Fermitin family homolog 3",
"gene_name": "FERMT3",
"organism": "Human",
"refseq_name": "fermitin family homolog 3 short isoform",
"refseq_ac": [
{
"id": "NP_113659",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_113659",
"type": "external"
}
],
"gene_names_uniprotkb": "FERMT3; KIND3; MIG2B; URP2",
"gene_names_refseq": "FERMT3; KIND3; MIG-2; MIG2B; UNC112C; URP2SF; URP2",
"protein_names_uniprotkb": "Fermitin family homolog 3; Kindlin-3; MIG2-like protein; Unc-112-related protein 2",
"protein_names_refseq": "MIG2-like protein; UNC-112 related protein 2; fermitin family homolog 3 short isoform; fermitin family homolog 3; fermitin family member 3; kindlin 3; unc-112-related protein 2",
"tax_id": 9606,
"disease": "Kindler syndrome (Disease Ontology:DOID:0060472); leukocyte adhesion deficiency 1 (Disease Ontology:DOID:0110910); leukocyte adhesion deficiency 3 (Disease Ontology:DOID:0110912); ovarian cancer (Disease Ontology:DOID:2394); acute myeloid leukemia (Disease Ontology:DOID:9119)",
"pathway": " (hsa:83706); (R-HSA-114608)",
"pathway_count": 2,
"publication_count": 107,
"publication_id_list": "11237011;12697302;12886250;1435334;14630798;15297306;16115862;18083107;18088087;18280249;18446792;18779414;19064721;19234460;19234463;19617577;19690332;19901323;20058876;22009320;22424782;22544926;23186163;23481700;23640497;23783831;24366607;24397554;24715725;25576301;25609252;25892735;26154972;26359933;26375851;26768311;26992070;27543614;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30001391;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31575892;31844290;31937595;31998317;32024667;32350084;32357974;32387766;32502341;32897882;32983136;33043033;33123756;33141586;33298915;33392160;33633747;33691108;33717175;33912179;33936100;34211107;34509645;34561969;34932366;35051231;35154160;35561310;35580925;35672907;36241641;36284347;36648575;36649586;37938771;38255822;38570692;6457647;8467233",
"class_list": "",
"function": "A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family., [RefSeq, PubMed]; Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin signalling regulates chemoresistance and immune evasion of colorectal cancer cells., [RefSeq, PubMed]; Expressed preferentially in B cells; MIG2B is in a highly conserved and defined gene family containing two plasma-membrane-binding ezrin/radixin/moesin domains and a pleckstrin homology domain, [RefSeq, PubMed]; Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis. Publication Status: Online-Only, [RefSeq, PubMed]; Inactivation of kindlin-3 increases human melanoma aggressiveness through the collagen-activated tyrosine kinase receptor DDR1., [RefSeq, PubMed]; Isoform 2 may act as a repressor of NF-kappa-B and apoptosis., [UniProtKB, PubMed, PubMed, PubMed]; Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton., [RefSeq, PubMed]; Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]., [RefSeq]; Our data show for the first time that URP2SF may act as a transcriptional repressor in NF-kappaB signaling pathway and regulate cell apoptotic pathway., [RefSeq, PubMed]; Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]",
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"secondary_ac_list": "Q8IUA1;Q8N207;Q9BT48",
"ec_number_list": [],
"go_molecular_function": "GO:0005178 integrin binding;GO:0008289 lipid binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0031093 platelet alpha granule lumen;GO:0070062 extracellular exosome;GO:0002102 podosome",
"go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0030335 positive regulation of cell migration;GO:0007160 cell-matrix adhesion;GO:0033632 regulation of cell-cell adhesion mediated by integrin;GO:0007159 leukocyte cell-cell adhesion",
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"hit_score": 10.8,
"record_id": "Q86UX7-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6ICG8-1",
"uniprot_id": [
{
"id": "WBP2L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ICG8",
"type": "external"
}
],
"mass": 31909.0,
"length": 309,
"protein_name": "Postacrosomal sheath WW domain-binding protein",
"gene_name": "WBP2NL",
"organism": "Human",
"refseq_name": "postacrosomal sheath WW domain-binding protein",
"refseq_ac": [
{
"id": "NP_689826",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_689826",
"type": "external"
}
],
"gene_names_uniprotkb": "WBP2NL; PAWP",
"gene_names_refseq": "GRAMD7; PAWP; WBP2NL",
"protein_names_uniprotkb": "Postacrosomal sheath WW domain-binding protein; WW domain-binding protein 2-like",
"protein_names_refseq": "WW domain-binding protein 2-like; postacrosomal sheath WW domain-binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:164684)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;17289678;18477386;24907910;28444612;28954204;29271520;35051231",
"class_list": "",
"function": "Demonstrate significant correlations between sperm PAWP levels and both fertilization rates and normal embryonic development after intracytoplasmic sperm injection., [RefSeq, PubMed]; May play a role in meiotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization., [UniProtKB]; PAWP/WBP2NL was present in all samples, and no significant differences were detected between patients with fertilization failure and donors in sequence variants or mean protein expression, or in the proportion of PAWP/WBP2NL-positive sperm. In conclusion, no clear association between PAWP/WBP2NL protein expression in sperm and fertilization outcome in ICSI were observed from this cohort., [RefSeq, PubMed]; PLCzeta and PAWP impairments may be one of the possible etiologies of decreased fertility in Oligoasthenoteratozoospermia Publication Status: Online-Only, [RefSeq, PubMed]; Taken into account that WBP2NL/PAWP gene and protein levels and distribution did not correlate with fertilization rates, this study questions the interest of WBP2NL/PAWP protein and gene expression analysis in sperm cells as a prognostic factor for the outcome of ICSI cycles, [RefSeq, PubMed]; WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]., [RefSeq]",
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"secondary_ac_list": "A3KFF7;A8MSG5;B3KXX4;Q8TBF0;Q8TBF3",
"ec_number_list": [],
"go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0050699 WW domain binding;GO:0031490 chromatin DNA binding",
"go_cellular_component": "GO:0061827 sperm head;GO:0005634 nucleus;GO:0036126 sperm flagellum;GO:0033011 perinuclear theca",
"go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0051321 meiotic cell cycle;GO:0035039 male pronucleus assembly;GO:0007343 egg activation",
"synthesized_glycan_count": 0,
"hit_score": 1.2,
"record_id": "Q6ICG8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O60304-1",
"uniprot_id": [
{
"id": "ZN500_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60304",
"type": "external"
}
],
"mass": 53674.0,
"length": 480,
"protein_name": "Zinc finger protein 500",
"gene_name": "ZNF500",
"organism": "Human",
"refseq_name": "zinc finger protein 500 isoform 2",
"refseq_ac": [
{
"id": "NP_001290379",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290379",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF500; KIAA0557; ZKSCAN18",
"gene_names_refseq": "ZKSCAN18; ZNF500; ZSCAN50",
"protein_names_uniprotkb": "Zinc finger protein 500; Zinc finger protein with KRAB and SCAN domains 18",
"protein_names_refseq": "zinc finger protein 500 isoform 2; zinc finger protein with KRAB and SCAN domains 18",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26048); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 36,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25418920;26992070;27846572;28063628;28832583;29242379;29393594;29508533;29632046;29632711;30315122;30429286;31844290;31848261;32157095;32502341;32938616;33141586;33298915;34171305;35051231;37700392;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF500 abolishes breast cancer proliferation and sensitizes chemotherapy by stabilizing P53 via competing with MDM2., [RefSeq, PubMed]",
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"secondary_ac_list": "A8K6X7;B4DNN9;Q0VAL2;Q96CQ8;Q9BTG0",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 3.7,
"record_id": "O60304-1",
"record_type": "protein",
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},
{
"uniprot_canonical_ac": "O14795-1",
"uniprot_id": [
{
"id": "UN13B_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14795",
"type": "external"
}
],
"mass": 180679.0,
"length": 1591,
"protein_name": "Protein unc-13 homolog B",
"gene_name": "UNC13B",
"organism": "Human",
"refseq_name": "protein unc-13 homolog B isoform 2",
"refseq_ac": [
{
"id": "NP_001317582",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582",
"type": "external"
}
],
"gene_names_uniprotkb": "UNC13B; UNC13",
"gene_names_refseq": "MUNC13; UNC13B; UNC13; Unc13h2; munc13-2",
"protein_names_uniprotkb": "Protein unc-13 homolog B; Munc13-2; munc13",
"protein_names_refseq": "homolog of rat Munc13 (diacylglycerol-binding); protein unc-13 homolog B isoform 2; protein unc-13 homolog B; unc-13-like",
"tax_id": 9606,
"disease": "alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:10497); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642)",
"pathway_count": 6,
"publication_count": 72,
"publication_id_list": "10233166;10440375;10620514;11001057;11015561;11027560;11068039;11237011;11242046;11756489;12519779;1339386;15144186;15935055;16116111;16616430;16959974;17301226;17478680;17766642;17891149;17924679;17989281;18215623;18617632;18669648;20068231;23186163;23363473;24275569;24578174;26811146;26992070;28904123;2892215;29557506;29632046;30379171;31713534;31844290;32134975;3214421;32157095;32357974;32488085;32897882;32938616;32983136;33592498;33876820;33912179;33968037;33981976;34171305;34357683;35051231;35135883;35318648;35580925;36010968;36215666;36241641;36284347;37938771;7823026;8071310;8095030;8211186;9260930;9607201;9701566;9753324",
"class_list": "",
"function": "Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release., [RefSeq, PubMed]; 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)., [UniProtKB, UniProtKB]; TRPC6 exocytosis by targeting to the C1 domain of Munc13-2. Publication Status: Online-Only, [RefSeq, PubMed]; There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the Diabetic Kidney Disease group and control group of patients with type 2 diabetes mellitus . Publication Status: Online-Only, [RefSeq, PubMed]; This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]., [RefSeq]; UNC13B variants associated with partial epilepsy with favourable outcome. Erratum:[Brain. 2022 Apr 18;145(2):e5. doi: 10.1093/brain/awab427. PMID: 34897376], [RefSeq, PubMed]",
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"secondary_ac_list": "Q2NKJ5;Q5VYM8",
"ec_number_list": [],
"go_molecular_function": "GO:0005516 calmodulin binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0031267 small GTPase binding",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031594 neuromuscular junction",
"go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0071333 cellular response to glucose stimulus;GO:0007268 chemical synaptic transmission;GO:0035249 synaptic transmission, glutamatergic;GO:0050714 positive regulation of protein secretion",
"synthesized_glycan_count": 0,
"hit_score": 7.7,
"record_id": "O14795-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z7G8-1",
"uniprot_id": [
{
"id": "VP13B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z7G8",
"type": "external"
}
],
"mass": 448664.0,
"length": 4022,
"protein_name": "Intermembrane lipid transfer protein VPS13B",
"gene_name": "VPS13B",
"organism": "Human",
"refseq_name": "intermembrane lipid transfer protein VPS13B isoform 3",
"refseq_ac": [
{
"id": "NP_056058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056058",
"type": "external"
}
],
"gene_names_uniprotkb": "VPS13B; CHS1; COH1; KIAA0532",
"gene_names_refseq": "BLTP5B; CHS1; COH1; VPS13B",
"protein_names_uniprotkb": "Intermembrane lipid transfer protein VPS13B; Cohen syndrome protein 1; Vacuolar protein sorting-associated protein 13B",
"protein_names_refseq": "bridge-like lipid transfer protein family member 5B; intermembrane lipid transfer protein VPS13B isoform 3; intermembrane lipid transfer protein VPS13B; vacuolar protein sorting-associated protein 13B",
"tax_id": 9606,
"disease": "Cohen syndrome (Disease Ontology:DOID:0111590); cataract (Disease Ontology:DOID:83)",
"pathway": " (hsa:157680)",
"pathway_count": 1,
"publication_count": 141,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;12730828;15141358;15154116;15211651;15498460;16648375;16959974;17081983;17924679;18452278;18984734;19006247;19190672;19413330;19533689;19651622;21136679;21865173;21972290;22424782;22544926;23033978;23186163;23188044;23481700;24334764;24714562;24715725;25492866;25576301;25645385;25880248;25892735;26154972;26358774;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29149870;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30444036;30484775;30524438;30568303;30779550;30784271;30833945;30962439;31154438;31217245;31444703;31530632;31580008;31752730;31825161;31844290;31848261;32157095;32161166;32170714;32357974;32375900;32387766;32402540;32488085;32502341;32505691;32560273;32605629;32897882;32938616;32983136;33025479;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33959574;33968037;33981976;34041686;34087483;34171305;34211107;34322253;34357683;34385517;34405274;34484844;34509645;34561969;34840762;34898996;34932366;35051231;35494241;35561310;35580925;35690661;36010968;36215666;36241641;36284347;36581221;37090188;37217939;38253038;38771357;39352497",
"class_list": "",
"function": "A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome., [RefSeq, PubMed]; A Novel Variant in VPS13B Underlying Cohen Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; A mutated gene on chromosome 8q22 found by haplotype analysis in patients with this syndrome., [RefSeq, PubMed]; COH1 mutations is associated with Cohen syndrome, [RefSeq, PubMed]; Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:24334764, PubMed:30962439, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation., [RefSeq, PubMed]; This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "C9JD30;Q709C6;Q709C7;Q7Z7G4;Q7Z7G5;Q7Z7G6;Q7Z7G7;Q8NB77;Q9NWV1;Q9Y4E7",
"ec_number_list": [],
"go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane",
"go_biological_process": "GO:0006869 lipid transport;GO:0007399 nervous system development;GO:0031175 neuron projection development;GO:0060612 adipose tissue development;GO:0007417 central nervous system development",
"synthesized_glycan_count": 0,
"hit_score": 15.0,
"record_id": "Q7Z7G8-1",
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"filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17035-1",
"uniprot_id": [
{
"id": "ZNF28_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17035",
"type": "external"
}
],
"mass": 83658.0,
"length": 718,
"protein_name": "Zinc finger protein 28",
"gene_name": "ZNF28",
"organism": "Human",
"refseq_name": "zinc finger protein 28 isoform 1",
"refseq_ac": [
{
"id": "NP_008900",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008900",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF28; KOX24",
"gene_names_refseq": "KOX24; ZNF28",
"protein_names_uniprotkb": "Zinc finger protein 28; Zinc finger protein KOX24",
"protein_names_refseq": "zinc finger protein 28 isoform 1; zinc finger protein KOX24",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7576); (R-HSA-212436); (R-HSA-9843940)",
"pathway_count": 3,
"publication_count": 41,
"publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;2288909;24715725;25274305;25892735;26813693;28273063;28832583;29242379;29786170;30379171;31289231;31427381;31844290;32157095;32983136;34561969;35051231;35580925;8183939;8769649;9016654;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]",
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"secondary_ac_list": "A8KAK9;B4E3G0;B9EIK7;Q5H9V1;Q5HYM9;Q6ZML9;Q6ZN56",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "P17035-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q16587-1",
"uniprot_id": [
{
"id": "ZNF74_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16587",
"type": "external"
}
],
"mass": 72207.0,
"length": 644,
"protein_name": "Zinc finger protein 74",
"gene_name": "ZNF74",
"organism": "Human",
"refseq_name": "zinc finger protein 74 isoform b",
"refseq_ac": [
{
"id": "NP_001243452",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243452",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF74; ZNF520",
"gene_names_refseq": "COS52; ZFP520; ZNF520; ZNF74; hZNF7",
"protein_names_uniprotkb": "Zinc finger protein 74; Zinc finger protein 520; hZNF7",
"protein_names_refseq": "zinc finger protein 520; zinc finger protein 74 isoform b",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7625); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 32,
"publication_id_list": "10235266;10330177;11237011;11395415;11705709;14519192;15175151;15896744;1639391;16606702;16719718;18477386;2163759;25645385;25880248;28904123;29393594;30429286;31844290;31848261;32157095;32357974;33592498;33968037;35051231;35494241;8183939;8268910;8663113;8769649;9637681;9653119",
"class_list": "",
"function": "May play a role in RNA metabolism., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"secondary_ac_list": "B5MCE3;B7Z5Y2;Q6IBV2;Q6PJP1;Q9UC04;Q9UF05;Q9UF06;Q9UF07",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005856 cytoskeleton",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 3.3,
"record_id": "Q16587-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O43670-1",
"uniprot_id": [
{
"id": "ZN207_HUMAN",
"url": "https://www.uniprot.org/uniprot/O43670",
"type": "external"
}
],
"mass": 50751.0,
"length": 478,
"protein_name": "BUB3-interacting and GLEBS motif-containing protein ZNF207",
"gene_name": "ZNF207",
"organism": "Human",
"refseq_name": "BUB3-interacting and GLEBS motif-containing protein ZNF207 isoform b",
"refseq_ac": [
{
"id": "NP_001027464",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027464",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF207; BUGZ",
"gene_names_refseq": "BuGZ; ZNF207; hBuGZ",
"protein_names_uniprotkb": "BUB3-interacting and GLEBS motif-containing protein ZNF207; BuGZ; Zinc finger protein 207; hBuGZ",
"protein_names_refseq": "BUB3-interacting and GLEBS motif-containing protein ZNF207 isoform b; BUB3-interacting and GLEBS motif-containing protein ZNF207",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7756)",
"pathway_count": 1,
"publication_count": 88,
"publication_id_list": "10.1101/2023.09.13.557529;10358176;11237011;20305658;21740066;23481700;24462186;24462187;24715725;25418920;25576301;26154972;26375851;26388440;26992070;27600516;27655845;27846572;27920218;28063628;28510447;28832583;28904123;29237092;29242379;29351928;29393594;29485866;29493099;29557506;29632046;29632711;29786170;30059200;30315122;30484775;30524438;30833945;31113916;31154438;31217245;31844290;31848261;31998317;32119511;32157095;32161166;32387766;32488085;32820050;32897882;32938616;32983136;33214551;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34725712;34931806;34932366;35008409;35051231;35132862;35138101;35246476;35254053;35289036;35561310;35580925;36010968;36241641;36284347;37535603;37541260;37938771;38665916;39302247;39531497;39534244;40596516;40914422;9799612",
"class_list": "",
"function": "BuGZ facilitates loading of spindle assembly checkpoint proteins to kinetochores in early mitosis., [RefSeq, PubMed]; Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly (PubMed:24462186, PubMed:24462187, PubMed:26388440). ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks (PubMed:26388440). Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetochore loading of BUB3 (PubMed:24462186, PubMed:24462187). Mechanisms by which BUB3 is protected are unclear: according to a first report, ZNF207/BuGZ may act by blocking ubiquitination and proteasomal degradation of BUB3 (PubMed:24462186). According to another report, the stabilization is independent of the proteasome (PubMed:24462187)., [UniProtKB, PubMed, PubMed, PubMed]; SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3., [RefSeq, PubMed]; System analysis based on the cancer-immunity cycle identifies ZNF207 as a novel immunotherapy target for hepatocellular carcinoma., [RefSeq, PubMed]; ZNF207 expression is elevated in hepatocellular carcinoma, [RefSeq, PubMed]",
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"secondary_ac_list": "A8K6Y6;E1P660;E1P661;E1P662;Q53XS9;Q96HW5;Q9BUQ7",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005874 microtubule;GO:0000776 kinetochore",
"go_biological_process": "GO:0046785 microtubule polymerization;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0050821 protein stabilization",
"synthesized_glycan_count": 0,
"hit_score": 11.8,
"record_id": "O43670-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.1100000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O60765-1",
"uniprot_id": [
{
"id": "Z354A_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60765",
"type": "external"
}
],
"mass": 69237.0,
"length": 605,
"protein_name": "Zinc finger protein 354A",
"gene_name": "ZNF354A",
"organism": "Human",
"refseq_name": "zinc finger protein 354A isoform 1",
"refseq_ac": [
{
"id": "NP_005640",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005640",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF354A; EZNF; HKL1; TCF17",
"gene_names_refseq": "EZNF; HEL104; HKL1; KID-1; KID1; TCF17; ZNF354A",
"protein_names_uniprotkb": "Zinc finger protein 354A; TCF-17; Transcription factor 17; Zinc finger protein eZNF",
"protein_names_refseq": "epididymis luminal protein 104; transcription factor 17; zinc finger protein 354A isoform 1; zinc finger protein eZNF",
"tax_id": 9606,
"disease": "seminoma (Disease Ontology:DOID:4440); in situ carcinoma (Disease Ontology:DOID:8719)",
"pathway": " (hsa:6940); (R-HSA-212436); (R-HSA-9843940)",
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"publication_count": 40,
"publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;20628624;2163759;23665872;25274305;26813693;28273063;28510447;29557506;30379171;31289231;31427381;31844290;32157095;32387766;32488085;33691108;8183939;8769649;9016654;9465904;9637681;9653119;9919311",
"class_list": "",
"function": "Meta-analysis of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus",
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},
{
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{
"id": "ZN718_HUMAN",
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"type": "external"
}
],
"mass": 55359.0,
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"protein_name": "Zinc finger protein 718",
"gene_name": "ZNF718",
"organism": "Human",
"refseq_name": "zinc finger protein 718 isoform a",
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{
"id": "NP_001034216",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034216",
"type": "external"
}
],
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"tax_id": 9606,
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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},
{
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{
"id": "ZN236_HUMAN",
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"type": "external"
}
],
"mass": 203704.0,
"length": 1845,
"protein_name": "Zinc finger protein 236",
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"organism": "Human",
"refseq_name": "zinc finger protein 236 isoform 1",
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{
"id": "NP_001293018",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293018",
"type": "external"
}
],
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"protein_names_refseq": "regulated by glucose; zinc finger protein 236 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7776)",
"pathway_count": 1,
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]",
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},
{
"uniprot_canonical_ac": "P11172-1",
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{
"id": "UMPS_HUMAN",
"url": "https://www.uniprot.org/uniprot/P11172",
"type": "external"
}
],
"mass": 52222.0,
"length": 480,
"protein_name": "Uridine 5'-monophosphate synthase",
"gene_name": "UMPS",
"organism": "Human",
"refseq_name": "uridine 5'-monophosphate synthase",
"refseq_ac": [
{
"id": "NP_000364",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364",
"type": "external"
}
],
"gene_names_uniprotkb": "UMPS; SW-cl.21",
"gene_names_refseq": "ODC; OPRT; UMPS",
"protein_names_uniprotkb": "Uridine 5'-monophosphate synthase; OMPdecase; UMP synthase",
"protein_names_refseq": "OMPdecase; OPRTase; UMP synthase; orotate phosphoribosyltransferase; orotidine 5'-phosphate decarboxylase; uridine 5'-monophosphate synthase",
"tax_id": 9606,
"disease": "orotic aciduria (Disease Ontology:DOID:0050833); purine-pyrimidine metabolic disorder (Disease Ontology:DOID:653)",
"pathway": " (hsa:7372); (R-HSA-500753)",
"pathway_count": 2,
"publication_count": 81,
"publication_id_list": "10889450;11053058;11237011;13115431;165196;18083107;18184586;18669648;20068231;21157651;23186163;24714562;25418920;25880248;26154972;2624233;26728094;26811146;26992070;27846572;27920218;28228285;28347333;28510447;28832583;28834231;28904123;29242379;29393594;29557506;29786170;29789417;2995985;30315122;30429286;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32382150;32387766;32488085;32494856;32696396;32735689;32754890;3279416;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34509645;34932366;35051231;35138101;35154160;35580925;36010968;36241641;36284347;36708921;38665916;40914422;4684686;6105839;6893554;8573583;8619816;8631878;9042911;9693067",
"class_list": "",
"function": "Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5'-monophosphate (OMP), and orotidine-5'-monophosphate decarboxylase (ODC), the terminal enzymatic reaction that decarboxylates OMP to uridine monophosphate (UMP)., [UniProtKB, PubMed, PubMed]; Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates., [RefSeq, PubMed]; LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU by sponging miR-185-5p to enhance UMPS expression. Publication Status: Online-Only, [RefSeq, PubMed]; The UMPS 638 CC genotype might be a candidate biomarker predicting toxicity in patients receiving tegafur-uracil/leucovorin-based preoperative chemoradiation for locally advanced rectal cancer Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]",
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"secondary_ac_list": "B5LY68;B5LY72;O00758;O00759;O00760;Q16862;Q9H3Q2;Q9UG49",
"ec_number_list": [
{
"id": "2.4.2.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.10",
"type": "external"
},
{
"id": "4.1.1.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.23",
"type": "external"
}
],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0004588 orotate phosphoribosyltransferase activity;GO:0004590 orotidine-5'-phosphate decarboxylase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0006222 UMP biosynthetic process;GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process;GO:0044205 'de novo' UMP biosynthetic process;GO:0019856 pyrimidine nucleobase biosynthetic process;GO:0006225 UDP biosynthetic process",
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},
{
"uniprot_canonical_ac": "Q5DID0-1",
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{
"id": "UROL1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5DID0",
"type": "external"
}
],
"mass": 144294.0,
"length": 1318,
"protein_name": "Uromodulin-like 1",
"gene_name": "UMODL1",
"organism": "Human",
"refseq_name": "uromodulin-like 1 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001004416",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004416",
"type": "external"
}
],
"gene_names_uniprotkb": "UMODL1",
"gene_names_refseq": "UMODL1",
"protein_names_uniprotkb": "Uromodulin-like 1; Olfactorin",
"protein_names_refseq": "olfactorin; uromodulin-like 1 isoform 1 precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:89766)",
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"class_list": "",
"function": "Data report the isolation of a novel gene, designated UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on human chromosome 21q22.3., [RefSeq, PubMed]; It was shown that common UMODL1 polymorphisms are unlikely to be important in the genetic susceptibility to high myopia in Han Chinese. Publication Status: Online-Only, [RefSeq, PubMed]; Result suggests that rs283971 is located in the frequent recombinant region on the UMODL1, and that this region might play a critical role in disease susceptibility to high myopia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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"secondary_ac_list": "C9JCE6;Q5DIC9;Q6LA40;Q6LA41;Q8N216",
"ec_number_list": [],
"go_molecular_function": "GO:0030414 peptidase inhibitor activity;GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0009897 external side of plasma membrane",
"go_biological_process": "",
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"kg_view_protein": true
},
{
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{
"id": "VA0E1_HUMAN",
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],
"mass": 9374.0,
"length": 81,
"protein_name": "V-type proton ATPase subunit e 1",
"gene_name": "ATP6V0E1",
"organism": "Human",
"refseq_name": "V-type proton ATPase subunit e 1",
"refseq_ac": [
{
"id": "NP_003936",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003936",
"type": "external"
}
],
"gene_names_uniprotkb": "ATP6V0E1; ATP6H; ATP6V0E",
"gene_names_refseq": "ATP6H; ATP6V0E1; ATP6V0E; M9.2; Vma21p; Vma21",
"protein_names_uniprotkb": "V-type proton ATPase subunit e 1; V-ATPase 9.2 kDa membrane accessory protein; V-ATPase M9.2 subunit; V-ATPase subunit e 1; Vacuolar proton pump subunit e 1",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1; H(+)-transporting two-sector ATPase, subunit H; V-ATPase 9.2 kDa membrane accessory protein; V-ATPase H subunit; V-ATPase M9.2 subunit; V-ATPase subunit e 1; V-type proton ATPase subunit e 1; vacuolar ATP synthase subunit H; vacuolar proton pump H subunit; vacuolar proton pump subunit e 1; vacuolar proton-ATPase subunit M9.2",
"tax_id": 9606,
"disease": "blindness (Disease Ontology:DOID:1432)",
"pathway": " (hsa:8992); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)",
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"class_list": "",
"function": "Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050)., [UniProtKB, PubMed, UniProtKB, PubMed]; There is an important role for physical association between aldolase and the A, B and E subunits of V-ATPase in the regulation of the proton pump, [RefSeq, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptomic and functional studies reveal miR-431-5p as a tumour suppressor in pancreatic ductal adenocarcinoma cells., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism;GO:0042625 ATPase-coupled ion transmembrane transporter activity",
"go_cellular_component": "GO:0005765 lysosomal membrane;GO:0030670 phagocytic vesicle membrane;GO:0010008 endosome membrane;GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain;GO:0033179 proton-transporting V-type ATPase, V0 domain",
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},
{
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{
"id": "Z286B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P0CG31",
"type": "external"
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],
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"protein_name": "Putative zinc finger protein 286B",
"gene_name": "ZNF286B",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "ZNF286B; ZNF286C; ZNF286L",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Putative zinc finger protein 286B",
"protein_names_refseq": "",
"tax_id": 9606,
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"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
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},
{
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{
"id": "UBR4_HUMAN",
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"type": "external"
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],
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"length": 5183,
"protein_name": "E3 ubiquitin-protein ligase UBR4",
"gene_name": "UBR4",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase UBR4",
"refseq_ac": [
{
"id": "NP_065816",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065816",
"type": "external"
}
],
"gene_names_uniprotkb": "UBR4; KIAA0462; KIAA1307; RBAF600",
"gene_names_refseq": "RBAF600; UBR4; ZUBR1; p600",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase UBR4; 2.3.2.27; 600 kDa retinoblastoma protein-associated factor; N-recognin-4; RBAF600; Retinoblastoma-associated factor of 600 kDa; p600",
"protein_names_refseq": "E3 ubiquitin-protein ligase UBR4; N-recognin-4; RING-type E3 ubiquitin transferase UBR4; retinoblastoma-associated factor 600-like protein; retinoblastoma-associated factor of 600 kDa; zinc finger UBR1-type protein 1",
"tax_id": 9606,
"disease": "episodic ataxia type 8 (Disease Ontology:DOID:0050996); intellectual disability (Disease Ontology:DOID:1059)",
"pathway": " (hsa:23352); (R-HSA-6798695); (R-HSA-983168); (R-HSA-9920588)",
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"function": "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 silencing factor of the integrated stress response (SIFI) complex, a multiprotein complex that turns off the mitochondrial stress response after a specific stress event has been resolved (PubMed:38297121, PubMed:40328314, PubMed:40875847). The SIFI complex 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 such as ABHD10 (PubMed:38297121, PubMed:40328314). Within the SIFI complex, UBR4 initiates ubiquitin chains that are further elongated or branched by KCMF1 (PubMed:38297121, PubMed:40328314, PubMed:40875847). 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease. Publication Status: Online-Only, [RefSeq, PubMed]; P600 is a cellular target of the human papillomavirus type 16 E7 oncoprotein that regulates cellular pathways that contribute to anchorage-independent growth and cellular transformation. GeneRIF: Human papillomavirus E7 oncoprotein associates with p600; interaction strongly contributes to cellular transformation independent of ability of E7 to bind pRB., [RefSeq, PubMed]; Results identify and characterize p600, a unique 600-kDa retinoblastoma protein- and calmodulin-binding protein. Erratum:[Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17882], [RefSeq, PubMed]; The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]., [RefSeq]",
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"id": "2.3.2.36",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36",
"type": "external"
},
{
"id": "3.6.1.29",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.29",
"type": "external"
}
],
"go_molecular_function": "GO:0005516 calmodulin binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005856 cytoskeleton",
"go_biological_process": "GO:0006979 response to oxidative stress;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0007032 endosome organization;GO:0010508 positive regulation of autophagy",
"synthesized_glycan_count": 0,
"hit_score": 19.5,
"record_id": "Q5T4S7-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P0C7X2-1",
"uniprot_id": [
{
"id": "ZN688_HUMAN",
"url": "https://www.uniprot.org/uniprot/P0C7X2",
"type": "external"
}
],
"mass": 30575.0,
"length": 276,
"protein_name": "Zinc finger protein 688",
"gene_name": "ZNF688",
"organism": "Human",
"refseq_name": "zinc finger protein 688 isoform b",
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{
"id": "NP_001019854",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019854",
"type": "external"
}
],
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"gene_names_refseq": "ZNF688",
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"tax_id": 9606,
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"pathway": " (hsa:146542); (R-HSA-212436)",
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"publication_count": 19,
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
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},
{
"uniprot_canonical_ac": "P51508-1",
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{
"id": "ZNF81_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51508",
"type": "external"
}
],
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"protein_name": "Zinc finger protein 81",
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"refseq_name": "zinc finger protein 81 isoform 1",
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{
"id": "NP_009068",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009068",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 81 isoform 1",
"tax_id": 9606,
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]., [RefSeq]",
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},
{
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{
"id": "ZN528_HUMAN",
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"type": "external"
}
],
"mass": 72138.0,
"length": 628,
"protein_name": "Zinc finger protein 528",
"gene_name": "ZNF528",
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{
"id": "NP_115799",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115799",
"type": "external"
}
],
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"tax_id": 9606,
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"class_list": "",
"function": "Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]",
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},
{
"uniprot_canonical_ac": "Q9BSA4-1",
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{
"id": "TTYH2_HUMAN",
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"type": "external"
}
],
"mass": 58772.0,
"length": 534,
"protein_name": "Protein tweety homolog 2",
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{
"id": "NP_116035",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116035",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:94015); (R-HSA-2672351)",
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"function": "Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like glutamate (By similarity). Probable large-conductance Ca(2+)-activated chloride channel (PubMed:15010458)., [UniProtKB, UniProtKB, PubMed]; Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggested that beta-COP plays a critical role in the trafficking of the TTYH2 channel to the plasma membrane, [RefSeq, PubMed]; Expressed most highly in brain and testis and at lower levels in heart, ovary, spleen, and peripheral blood leukocytes. Expression of this gene is upregulated in 13 of 16 (81%) renal cell carcinoma samples examined, [RefSeq, PubMed]; N-glycosylation is not the determining factor for TTYH2 trafficking to the plasma membrane., [RefSeq, PubMed]; Probable chloride channel., [UniProtKB, UniProtKB, UniProtKB]; SARS-CoV-2 exacerbates proinflammatory responses in myeloid cells through C-type lectin receptors and Tweety family member 2., [RefSeq, PubMed]; TTYH2 gene expression is significantly up-regulated in colon cancer. The TTYH2 gene may play an important role in regulating both proliferating and metastatic potentials of colorectal cancer., [RefSeq, PubMed]; TTYH2 may serve as a novel target for the treatment of osteosarcoma., [RefSeq, PubMed]; This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"ec_number_list": [
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
"id": "1.8.5.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1",
"type": "external"
},
{
"id": "1.11.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
"type": "external"
},
{
"id": "5.6.1.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6",
"type": "external"
}
],
"go_molecular_function": "GO:0072320 volume-sensitive chloride channel activity;GO:0005509 calcium ion binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0034707 chloride channel complex",
"go_biological_process": "GO:0015813 L-glutamate transmembrane transport",
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},
{
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{
"id": "ZN140_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52738",
"type": "external"
}
],
"mass": 52996.0,
"length": 457,
"protein_name": "Zinc finger protein 140",
"gene_name": "ZNF140",
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{
"id": "NP_001287705",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287705",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7699); (R-HSA-212436)",
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"class_list": "",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
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{
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}
],
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"protein_name": "Zinc finger protein 345",
"gene_name": "ZNF345",
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"refseq_name": "zinc finger protein 345",
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{
"id": "NP_001229401",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229401",
"type": "external"
}
],
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"gene_names_refseq": "HZF10; ZNF345",
"protein_names_uniprotkb": "Zinc finger protein 345; Zinc finger protein HZF10",
"protein_names_refseq": "zinc finger protein 345; zinc finger protein HZF10",
"tax_id": 9606,
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"pathway": " (hsa:25850)",
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"publication_id_list": "11237011;28904123;29242379;32983136;7865130",
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"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0006383 transcription by RNA polymerase III;GO:0006359 regulation of transcription by RNA polymerase III",
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},
{
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{
"id": "ZN222_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UK12",
"type": "external"
}
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"protein_name": "Zinc finger protein 222",
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{
"id": "NP_001123468",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123468",
"type": "external"
}
],
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"function": "May be involved in transcriptional regulation., [UniProtKB]",
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},
{
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{
"id": "ZN235_HUMAN",
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"type": "external"
}
],
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"length": 738,
"protein_name": "Zinc finger protein 235",
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"organism": "Human",
"refseq_name": "zinc finger protein 235 isoform 1",
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{
"id": "NP_004225",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004225",
"type": "external"
}
],
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"protein_names_uniprotkb": "Zinc finger protein 235; Zfp-93; Zinc finger protein 270; Zinc finger protein 93 homolog; Zinc finger protein HZF6",
"protein_names_refseq": "zfp-93; zinc finger protein 235 isoform 1; zinc finger protein 270; zinc finger protein 6; zinc finger protein 93 homolog; zinc finger protein HZF6; zinc finger protein homologous to Zfp93 in mouse; zinc finger protein homologous to mouse Zfp93",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9310); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]., [RefSeq]",
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},
{
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{
"id": "ZN224_HUMAN",
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"type": "external"
}
],
"mass": 82280.0,
"length": 707,
"protein_name": "Zinc finger protein 224",
"gene_name": "ZNF224",
"organism": "Human",
"refseq_name": "zinc finger protein 224",
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{
"id": "NP_001308574",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308574",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF224; BMZF2; KOX22; ZNF233; ZNF255; ZNF27",
"gene_names_refseq": "BMZF-2; BMZF2; KOX22; ZNF224; ZNF255; ZNF27",
"protein_names_uniprotkb": "Zinc finger protein 224; BMZF-2; Bone marrow zinc finger 2; Zinc finger protein 233; Zinc finger protein 255; Zinc finger protein 27; Zinc finger protein KOX22",
"protein_names_refseq": "bone marrow zinc finger 2; zinc finger protein 224; zinc finger protein 233; zinc finger protein 255; zinc finger protein 27; zinc finger protein KOX22",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7767); (R-HSA-212436); (R-HSA-9843940)",
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"class_list": "",
"function": "Identify the receptor tyrosine kinase Axl as a novel target of ZNF224 transcriptional repression activity., [RefSeq, PubMed]; Increasing information on the mechanism through which ZNF224 can operate could lead to the identification of agents capable of modulating ZNF224 function, thus potentially paving the way to new therapeutic strategies for treatment of cancer Review article, [RefSeq, PubMed]; May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells., [UniProtKB, PubMed]; Results suggest that bone marrow zinc finger 2 (BMZF2) interferes with the transactivation potential of Wilms tumor suppressor gene (WT1)., [RefSeq, PubMed]; This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms' tumor protein 1 to regulate apoptotic genes in leukemia. [provided by RefSeq, Jul 2016]., [RefSeq]; We demonstrate that ZNF224, a Kruppel-like zinc finger transcription factor, is the repressor protein that specifically binds to the negative cis-element AldA-NRE and affects the AldA-NRE-mediated transcription, [RefSeq, PubMed]; ZNF224 Protein: Multifaceted Functions Based on Its Molecular Partners. Review article Publication Status: Online-Only, [RefSeq, PubMed]; ZNF224 is a mediator of TGF-beta pro-oncogenic function in melanoma., [RefSeq, PubMed]",
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"secondary_ac_list": "A6NFW9;P17033;Q86V10;Q8IZC8;Q9UID9;Q9Y2P6",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0043565 sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0017053 transcription repressor complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "Q9UKR8-1",
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{
"id": "TSN16_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKR8",
"type": "external"
}
],
"mass": 26266.0,
"length": 245,
"protein_name": "Tetraspanin-16",
"gene_name": "TSPAN16",
"organism": "Human",
"refseq_name": "tetraspanin-16 isoform 2",
"refseq_ac": [
{
"id": "NP_001269438",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269438",
"type": "external"
}
],
"gene_names_uniprotkb": "TSPAN16; TM4SF16",
"gene_names_refseq": "TM-8; TM4-B; TM4SF16; TSPAN16",
"protein_names_uniprotkb": "Tetraspanin-16; Tetraspanin TM4-B; Transmembrane 4 superfamily member 16; Tspan-16",
"protein_names_refseq": "tetraspanin TM4-B; tetraspanin-16 isoform 2; transmembrane 4 superfamily member 16; tspan-16",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26526)",
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"function": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]; To probe the structural role of the TM4b-4c loop of EAAT1 (Rattus norvegicus), each of the 57 amino acid residues was mutated to cysteine., [RefSeq, PubMed]",
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},
{
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{
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],
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"protein_name": "Zinc finger protein 618",
"gene_name": "ZNF618",
"organism": "Human",
"refseq_name": "zinc finger protein 618 isoform 2",
"refseq_ac": [
{
"id": "NP_001304969",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304969",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF618; KIAA1952",
"gene_names_refseq": "FP13169; NEDD10; ZNF618",
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"protein_names_refseq": "neural precursor cell expressed, developmentally down-regulated 10; zinc finger protein 618 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:114991)",
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"publication_id_list": "11237011;19724895;19851296;20198315;20583170;25576301;25645385;25755297;25772364;26992070;27129234;28832583;29393594;29557506;30429286;30833945;32387766;32938616;32983136;33968037;34087483;34171305;35051231;35494241",
"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed]; Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization., [UniProtKB, PubMed]; Study suggests that ZNF618 is a key protein that regulates UHRF2 function as a specific 5hmC reader in vivo., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0001221 transcription coregulator binding;GO:0140463 chromatin-protein adaptor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0005721 pericentric heterochromatin",
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},
{
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{
"id": "VCX3B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H321",
"type": "external"
}
],
"mass": 26878.0,
"length": 246,
"protein_name": "Variable charge X-linked protein 3B",
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"organism": "Human",
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"refseq_ac": [
{
"id": "NP_001001888",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001888",
"type": "external"
}
],
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"function": "May mediate a process in spermatogenesis or may play a role in sex ratio distortion., [UniProtKB]; This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]., [RefSeq]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus",
"go_biological_process": "GO:0007420 brain development",
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},
{
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{
"id": "ZN763_HUMAN",
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"type": "external"
}
],
"mass": 46099.0,
"length": 394,
"protein_name": "Zinc finger protein 763",
"gene_name": "ZNF763",
"organism": "Human",
"refseq_name": "zinc finger protein 763 isoform 2",
"refseq_ac": [
{
"id": "NP_001012771",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012771",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:284390)",
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"publication_count": 3,
"publication_id_list": "11237011;29242379;33936100",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]",
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"secondary_ac_list": "B3KRU3;B4DRE7",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "Q0D2J5-1",
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},
{
"uniprot_canonical_ac": "Q5HY98-1",
"uniprot_id": [
{
"id": "ZN766_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5HY98",
"type": "external"
}
],
"mass": 54507.0,
"length": 468,
"protein_name": "Zinc finger protein 766",
"gene_name": "ZNF766",
"organism": "Human",
"refseq_name": "zinc finger protein 766",
"refseq_ac": [
{
"id": "NP_001010851",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010851",
"type": "external"
}
],
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"gene_names_refseq": "ZNF766",
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90321)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome",
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},
{
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{
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}
],
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"protein_name": "Zinc finger protein 814",
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{
"id": "NP_001138461",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138461",
"type": "external"
}
],
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"pathway": " (hsa:730051)",
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"secondary_ac_list": "A6NF35",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding",
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},
{
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{
"id": "ZN717_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BY31",
"type": "external"
}
],
"mass": 106536.0,
"length": 914,
"protein_name": "Zinc finger protein 717",
"gene_name": "ZNF717",
"organism": "Human",
"refseq_name": "zinc finger protein 717 isoform a",
"refseq_ac": [
{
"id": "NP_001121695",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121695",
"type": "external"
}
],
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"gene_names_refseq": "OB1; X17; ZNF717; ZNF838",
"protein_names_uniprotkb": "Zinc finger protein 717; Krueppel-like factor X17",
"protein_names_refseq": "krueppel-like factor X17; kruppel-like zinc finger factor X17; zinc finger protein 717 isoform a; zinc finger protein 838",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:100131827); (R-HSA-212436)",
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"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25418920;29327728;32157095;33691108;34932366;36284347;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]., [RefSeq]; ZNF717 gene exhibited a high frequency of mutation in hepatocellular carcinoma at both single-cell and population levels., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
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},
{
"uniprot_canonical_ac": "Q9P2U7-1",
"uniprot_id": [
{
"id": "VGLU1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2U7",
"type": "external"
}
],
"mass": 61613.0,
"length": 560,
"protein_name": "Vesicular glutamate transporter 1",
"gene_name": "SLC17A7",
"organism": "Human",
"refseq_name": "vesicular glutamate transporter 1",
"refseq_ac": [
{
"id": "NP_064705",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_064705",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC17A7; BNPI; VGLUT1",
"gene_names_refseq": "BNPI; SLC17A7; VGLUT1",
"protein_names_uniprotkb": "Vesicular glutamate transporter 1; Brain-specific Na(+)-dependent inorganic phosphate cotransporter; Solute carrier family 17 member 7; VGluT1",
"protein_names_refseq": "brain-specific Na(+)-dependent inorganic phosphate cotransporter; brain-specific Na-dependent inorganic phosphate cotransporter; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7; solute carrier family 17 (vesicular glutamate transporter), member 7; vesicular glutamate transporter 1",
"tax_id": 9606,
"disease": "sciatic neuropathy (Disease Ontology:DOID:11446); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224)",
"pathway": " (hsa:57030); (R-HSA-210500); (R-HSA-442660)",
"pathway_count": 3,
"publication_count": 52,
"publication_id_list": "10440375;10446133;10620514;10684912;10820226;10889531;10973981;11001057;11015561;11237011;11242046;11698620;11756489;11897791;12115694;12151341;12519779;15286787;15286788;15592994;15632147;15935055;16116111;16226721;16616430;16751771;17478680;17502375;17726476;17891149;17989281;18215623;18599538;2008212;2387399;24578174;25334008;26836159;27029226;27258819;29557506;29890994;31663854;3214421;33392160;7651355;7874447;8125921;8183239;8632143;9701566;9845349",
"class_list": "",
"function": "In mammals, VGLUT1 gained a proline-rich sequence that recruits endophilinA1 and turns the transporter into a regulator of synaptic vesicles organization and spontaneous release. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate (PubMed:10820226). At the synaptic vesicle membrane, mainly functions as an uniporter which transports preferentially L-glutamate but also phosphate from the cytoplasm into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (By similarity). The L-glutamate or phosphate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (By similarity). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). Moreover, may function as a K(+)/H(+) antiport allowing to maintain the electrical gradient and to decrease chemical gradient and therefore sustain vesicular glutamate uptake (By similarity). The vesicular K(+)/H(+) antiport activity is electroneutral (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (PubMed:10820226). The symporter activity is driven by an inside negative membrane potential and is electrogenic (By similarity). Is necessary for synaptic signaling of visual-evoked responses from photoreceptors (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Results suggest that activation of JNK in Alzheimer's disease (AD) inhibits insulin signaling which could lead to a decreased expression of VGLUT1, therefore contributing to the glutamatergic deficit in AD, [RefSeq, PubMed]; Study revealed susceptibility of glutamatergic nerve terminals to Abeta induced toxicity and underlined the importance of VGLUT1 in the progression of Alzheimer's disease, as the decrease of this protein levels could increase the susceptibility to subsequent deleterious inputs by exacerbating Abeta induced neuroinflammation and synaptic plasticity disruption., [RefSeq, PubMed]; The findings of this study indicate that Slc17A7 located on 1p/19q may simultaneously influence tumor development. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]., [RefSeq]; This study was the first to demonstrate an association between genetic polymorphism at rs7417284 SNP in the promoter region of the SLC17A7 gene and concussion severity and duration. Based upon these findings, rs74174284 is a potential predictive genetic marker for identifying athletes who are more susceptible for altered recovery times and worse motor speed ImPACT scores after sport-related concussion., [RefSeq, PubMed]",
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{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
"id": "1.8.5.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1",
"type": "external"
},
{
"id": "1.11.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
"type": "external"
},
{
"id": "5.6.1.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6",
"type": "external"
}
],
"go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015386 potassium:proton antiporter activity;GO:0005254 chloride channel activity;GO:0008068 extracellularly glutamate-gated chloride channel activity;GO:0005313 L-glutamate transmembrane transporter activity",
"go_cellular_component": "GO:0060203 clathrin-sculpted glutamate transport vesicle membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048786 presynaptic active zone;GO:0098794 postsynapse",
"go_biological_process": "GO:0003407 neural retina development;GO:0050803 regulation of synapse structure or activity;GO:0035249 synaptic transmission, glutamatergic;GO:0006813 potassium ion transport;GO:0006821 chloride transport",
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},
{
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{
"id": "ZN117_HUMAN",
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"type": "external"
}
],
"mass": 56376.0,
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"protein_name": "Zinc finger protein 117",
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{
"id": "NP_056936",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056936",
"type": "external"
}
],
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"protein_names_refseq": "Krueppel-related zinc finger protein; provirus-linked krueppel; zinc finger protein 117; zinc finger protein HPF9",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:109504726); (hsa:51351)",
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"publication_id_list": "10.1101/2023.09.13.557529;2023909;2115127;2505992;26992070;30379171;31217245;31844290;32357974;34185709;37217939",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]., [RefSeq]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
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},
{
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{
"id": "WNT16_HUMAN",
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"type": "external"
}
],
"mass": 40690.0,
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"protein_name": "Protein Wnt-16",
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{
"id": "NP_057171",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057171",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51384); (R-HSA-3238698); (R-HSA-373080)",
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"function": "Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound Bone Stiffness: Analyses from the General Population and Patients Evaluated for Osteoporosis., [RefSeq, PubMed]; Genomic analysis of conserved sequences between human, rat, and zebrafish WNT16, [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity)., [UniProtKB]; Results suggest synergistic effects of WNT16a insertion and the at-risk 'T' allele of TCF7L2 (rs7903146) for elevating the expression of TCF7L2 in human pancreas which may affect the regulation of downstream target genes involved in the development of T2D Publication Status: Online-Only, [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT16 elevation induced cell senescence of osteoblasts in ankylosing spondylitis. Publication Status: Online-Only, [RefSeq, PubMed]; WNT16 from decidual stromal cells regulates HTR8/SVneo trophoblastic cell function via AKT/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Whole-genome sequencing identifies rare missense variants of WNT16 and ERVW-1 causing the systemic lupus erythematosus., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0005102 signaling receptor binding",
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"go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0046330 positive regulation of JNK cascade;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0030216 keratinocyte differentiation;GO:0030182 neuron differentiation",
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},
{
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{
"id": "ZN724_HUMAN",
"url": "https://www.uniprot.org/uniprot/A8MTY0",
"type": "external"
}
],
"mass": 71172.0,
"length": 619,
"protein_name": "Zinc finger protein 724",
"gene_name": "ZNF724",
"organism": "Human",
"refseq_name": "zinc finger protein 724 isoform 1",
"refseq_ac": [
{
"id": "NP_001342333",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342333",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF724; ZNF724P",
"gene_names_refseq": "ZNF724P; ZNF724",
"protein_names_uniprotkb": "Zinc finger protein 724",
"protein_names_refseq": "zinc finger protein 724 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:440519); (R-HSA-212436)",
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"publication_count": 34,
"publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;26992070;28832583;28834231;29242379;29371260;29493099;29786170;31217245;31289104;31844290;32357974;32387766;33141586;33392160;33537174;34185709;37938771;8183939;8769649;9637681;9653119",
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"function": "May be involved in transcriptional regulation., [UniProtKB]; The present study revealed three gout specific loci, CNTN5, MIR302F, ZNF724, to be clearly associated with mechanisms of gout development, which distinctly differ from the known gout risk loci that basically elevate serum uric acid level. This meta-analysis is the first to reveal the loci associated with crystal-induced inflammation, the last step in gout development that aggravates asymptomatic hyperuricaemia into gout., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DVU0",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "A8MTY0-1",
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"kg_view_protein": true
},
{
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{
"id": "WBP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96G27",
"type": "external"
}
],
"mass": 29140.0,
"length": 269,
"protein_name": "WW domain-binding protein 1",
"gene_name": "WBP1",
"organism": "Human",
"refseq_name": "WW domain-binding protein 1",
"refseq_ac": [
{
"id": "NP_036609",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036609",
"type": "external"
}
],
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"gene_names_refseq": "WBP-1; WBP1",
"protein_names_uniprotkb": "WW domain-binding protein 1; WBP-1",
"protein_names_refseq": "WW domain-binding protein 1; epididymis secretory sperm binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23559)",
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"publication_count": 18,
"publication_id_list": "11237011;15064722;21841196;23090970;24190977;25502872;28495464;29242379;29557506;31844290;33298915;33592498;33968037;34357683;35154160;35580925;9169421;9202023",
"class_list": "",
"function": "Mcl-1 is a determinant of cell fate, and ATF6 mediates apoptosis via specific suppression of Mcl-1 through up-regulation of WBP1, [RefSeq, PubMed]; MiR-21 inhibits cardiac fibroblasts proliferation by inactivating the TGF-beta1/Smad2 signaling pathway via up-regulation of WWP-1., [RefSeq, PubMed]; The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]., [RefSeq]",
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"secondary_ac_list": "B2RE02;O95637",
"ec_number_list": [],
"go_molecular_function": "GO:0050699 WW domain binding",
"go_cellular_component": "",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 2.0,
"record_id": "Q96G27-1",
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"filter_code": "0000000.1100101.100000.000000000001000000.1000000001000.101.00000",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q6ZMV8",
"type": "external"
}
],
"mass": 59040.0,
"length": 503,
"protein_name": "Putative zinc finger protein 730",
"gene_name": "ZNF730",
"organism": "Human",
"refseq_name": "putative zinc finger protein 730",
"refseq_ac": [
{
"id": "NP_001264332",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264332",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF730",
"gene_names_refseq": "ZNF730",
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"protein_names_refseq": "putative zinc finger protein 730",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:100129543); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 15,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;35051231;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
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},
{
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{
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],
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"length": 1059,
"protein_name": "Zinc finger protein 628",
"gene_name": "ZNF628",
"organism": "Human",
"refseq_name": "zinc finger protein 628",
"refseq_ac": [
{
"id": "NP_149104",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_149104",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF628",
"gene_names_refseq": "ZEC; ZNF628; Zfp628",
"protein_names_uniprotkb": "Zinc finger protein 628",
"protein_names_refseq": "zinc finger protein 628; zinc finger protein Zec",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:89887)",
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"publication_count": 23,
"publication_id_list": "11237011;23186163;25576301;26992070;28649982;28904123;29242379;29393594;29508533;30379171;31844290;32157095;32161166;32387766;32897882;32938616;33968037;34087483;34561969;35051231;35254053;35494241;35580925",
"class_list": "",
"function": "Transcriptional activator. Binds DNA on GT-box consensus sequence 5'-TTGGTT-3'. Plays a role in spermiogenesis., [UniProtKB, UniProtKB]; Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]., [RefSeq]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "P02774-1",
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{
"id": "VTDB_HUMAN",
"url": "https://www.uniprot.org/uniprot/P02774",
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],
"mass": 52918.0,
"length": 474,
"protein_name": "Vitamin D-binding protein",
"gene_name": "GC",
"organism": "Human",
"refseq_name": "vitamin D-binding protein isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_000574",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000574",
"type": "external"
}
],
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"gene_names_refseq": "DBP-maf; DBP/GC; DBP; GC; GRD3; Gc-MAF; GcMAF; HEL-S-51; VDBG; VDBP; VDB",
"protein_names_uniprotkb": "Vitamin D-binding protein; DBP-maf; DBP; Gc protein-derived macrophage activating factor; Gc-MAF; Gc-globulin; GcMAF; Gc; Group-specific component; VDB; Vitamin D-binding protein-macrophage activating factor",
"protein_names_refseq": "epididymis secretory protein Li 51; gc protein-derived macrophage activating factor; gc-globulin; group-specific component (vitamin D binding protein); vitamin D-binding alpha-globulin; vitamin D-binding protein isoform 1 precursor; vitamin D-binding protein-macrophage activating factor; vitamin D-binding protein",
"tax_id": 9606,
"disease": "primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); pre-eclampsia (Disease Ontology:DOID:10591); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); dengue disease (Disease Ontology:DOID:12205); Graves' disease (Disease Ontology:DOID:12361); neurodegenerative disease (Disease Ontology:DOID:1289); uveitis (Disease Ontology:DOID:13141); hepatic encephalopathy (Disease Ontology:DOID:13413); rheumatic fever (Disease Ontology:DOID:1586); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); arthritis (Disease Ontology:DOID:848); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:2638); (R-HSA-196791)",
"pathway_count": 2,
"publication_count": 78,
"publication_id_list": "10052453;10518789;11012668;11085925;11234559;11237011;11717447;11799400;11856765;12227689;12855575;12867411;1352271;15465040;15647825;15728261;16302727;17360250;19473635;20079467;21595846;21849106;218624;22564762;22877430;22879719;22918710;23090970;23857223;24101867;2415977;2416779;2423133;24569127;25363733;25548167;25892735;26434738;26748501;27250744;27726376;27913313;28005175;28206978;28841848;29242379;29557506;2958390;29632711;29671580;29786170;30429286;31844290;32157095;32350084;32983136;34171305;35051231;35251023;35580925;36284347;37074911;37217939;38144557;38407088;38665916;38732523;39068475;39445578;6689265;7505619;7725672;7768901;8325650;8506296;8679605;8706697;9821970",
"class_list": "",
"function": "Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease., [RefSeq, PubMed]; Association of rs4588 polymorphism in vitamin D binding protein gene with polycystic ovarian syndrome in Iranian women: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]., [RefSeq]; Vitamin D-Binding Protein and the Role of its Gene Polymorphisms in the Mortality of Sepsis Patients., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DPP2;D6RAK8;Q16309;Q16310;Q53F31;Q6GTG1",
"ec_number_list": [],
"go_molecular_function": "GO:0090482 vitamin transmembrane transporter activity;GO:0003779 actin binding;GO:0005499 vitamin D binding;GO:1902118 calcidiol binding;GO:0140104 molecular carrier activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0072562 blood microparticle",
"go_biological_process": "GO:0042359 vitamin D metabolic process;GO:0031667 response to nutrient levels;GO:0051180 vitamin transport",
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"record_id": "P02774-1",
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},
{
"uniprot_canonical_ac": "Q5JTN6-1",
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{
"id": "WDR38_HUMAN",
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"type": "external"
}
],
"mass": 34312.0,
"length": 314,
"protein_name": "WD repeat-containing protein 38",
"gene_name": "WDR38",
"organism": "Human",
"refseq_name": "WD repeat-containing protein 38 isoform 2",
"refseq_ac": [
{
"id": "NP_001038941",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001038941",
"type": "external"
}
],
"gene_names_uniprotkb": "WDR38",
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"protein_names_uniprotkb": "WD repeat-containing protein 38",
"protein_names_refseq": "WD repeat-containing protein 38 isoform 2; WD repeat-containing protein 38",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:401551)",
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"publication_id_list": "11237011;35051231;35494241;37635409;39894887",
"class_list": "",
"function": "WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis., [RefSeq, PubMed]",
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"go_cellular_component": "GO:1990234 transferase complex",
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"record_id": "Q5JTN6-1",
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},
{
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{
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],
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"protein_name": "Zinc finger protein 749",
"gene_name": "ZNF749",
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{
"id": "NP_001018855",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018855",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 749 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:388567); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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},
{
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{
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],
"mass": 14875.0,
"length": 126,
"protein_name": "Ubiquinol-cytochrome c reductase complex assembly factor 2",
"gene_name": "UQCC2",
"organism": "Human",
"refseq_name": "ubiquinol-cytochrome c reductase complex assembly factor 2",
"refseq_ac": [
{
"id": "NP_115716",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115716",
"type": "external"
}
],
"gene_names_uniprotkb": "UQCC2; C6orf125; MNF1",
"gene_names_refseq": "C6orf125; C6orf126; Cbp6; M19; MC3DN7; MNF1; UQCC2; bA6B20.2",
"protein_names_uniprotkb": "Ubiquinol-cytochrome c reductase complex assembly factor 2; Breast cancer-associated protein SGA-81M; Mitochondrial nucleoid factor 1; Mitochondrial protein M19",
"protein_names_refseq": "breast cancer-associated protein SGA-81M; cytochrome B protein synthesis 6 homolog; mitochondrial nucleoid factor 1; mitochondrial protein M19; ubiquinol-cytochrome c reductase complex assembly factor 2",
"tax_id": 9606,
"disease": "mitochondrial complex III deficiency nuclear type 7 (Disease Ontology:DOID:0080116)",
"pathway": " (hsa:84300); (R-HSA-9865881)",
"pathway_count": 2,
"publication_count": 39,
"publication_id_list": "11237011;19643811;21278747;22277967;22363741;23168492;23481700;24385928;24715725;25008109;25605331;26992070;27846572;27920218;28380382;28510447;28673544;28832583;28844695;29243944;29508533;29632046;29786170;31844290;32157095;32387766;32488085;32897882;32929120;32938616;32983136;33141586;33912179;33936100;34357683;34509645;34932366;34969438;35051231",
"class_list": "",
"function": "M19 associates with the nucleoid and likely regulates the organization and metabolism of mtDNA., [RefSeq, PubMed]; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability., [UniProtKB, PubMed, PubMed]; Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients, [RefSeq, PubMed]; The function of M19, a novel mitochondrial nucleoid protein, is characterized in muscle and pancreatic beta-cells., [RefSeq, PubMed]; This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]., [RefSeq]; This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid",
"go_biological_process": "GO:0050796 regulation of insulin secretion;GO:0002082 regulation of oxidative phosphorylation;GO:0034551 mitochondrial respiratory chain complex III assembly;GO:0070131 positive regulation of mitochondrial translation;GO:2001014 regulation of skeletal muscle cell differentiation",
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},
{
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{
"id": "ZBT11_HUMAN",
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],
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"protein_name": "Zinc finger and BTB domain-containing protein 11",
"gene_name": "ZBTB11",
"organism": "Human",
"refseq_name": "zinc finger and BTB domain-containing protein 11",
"refseq_ac": [
{
"id": "NP_055230",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055230",
"type": "external"
}
],
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"gene_names_refseq": "MRT69; ZBTB11; ZNF-U69274; ZNF913",
"protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 11",
"protein_names_refseq": "zinc finger and BTB domain-containing protein 11",
"tax_id": 9606,
"disease": "autosomal recessive intellectual developmental disorder 69 (Disease Ontology:DOID:0081230)",
"pathway": " (hsa:27107)",
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"function": "Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders., [RefSeq, PubMed]; Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes., [RefSeq, PubMed]; We report two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs and provide functional evidence linking ZBTB11 dysfunction to this phenotype, [RefSeq, PubMed]",
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},
{
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{
"id": "VSIG1_HUMAN",
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{
"id": "NP_001164024",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164024",
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],
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"function": "Expressed, both at the mRNA and protein level, in gastric, esophageal, and ovarian cancers, while expression in normal tissues was restricted to testis and stomach Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between cadherins, vimentin, and V-set and immunoglobulin domain containing 1 in gastric-type hepatocellular carcinoma., [RefSeq, PubMed]; Study showed that VSIG1 is expressed tissue specifically in both non-cancerous and cancerous tissues, and that VSIG1 has suppressive functions in proliferation, migration, and invasion in cancer cells., [RefSeq, PubMed]; This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; V-set and immunoglobulin domain containing 1 (VSIG1) as an emerging target for epithelial-mesenchymal transition of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; VSIG1 expression was significantly reduced at both the mRNA and protein levels in gastric cancer tissues. loss of VSIG1 expression was significantly correlated with poor overall survival and disease-free survival in gastric cancer patients., [RefSeq, PubMed]",
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},
{
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{
"id": "ZN768_HUMAN",
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],
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"protein_name": "Zinc finger protein 768",
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"refseq_name": "zinc finger protein 768",
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{
"id": "NP_078947",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_078947",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79724)",
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"publication_id_list": "11237011;15302935;16964243;17525332;18212344;18220336;18452278;18669648;18707149;19413330;19651622;19664994;20058876;20068231;21406692;23186163;25418920;25875936;26154972;26992070;28063628;28832583;29331515;29393594;29557506;29632046;30476274;30484775;30524438;30833945;31154438;31217245;31844290;32157095;32387766;32897882;32983136;33981976;34087483;34404770;35051231;35580925;36010968;37938771;38665916",
"class_list": "",
"function": "A report on the specific binding of zinc finger protein ZNF768 to the sequence motif GCTGTGTG (N20) CCTCTCTG in the core region of mammalian-wide interspersed repeats., [RefSeq, PubMed]; Binds to mammalian-wide interspersed repeat (MIRs) sequences in euchromatin and promoter regions of genes at the consensus sequence 5'-GCTGTGTG-[N20]-CCTCTCTG-3', consisting of two anchor regions connected by a linker region; the linker region probably does not contribute to the binding specificity (PubMed:30476274). Required for cell homeostasis (PubMed:34404770). May be involved in transcriptional regulation (Probable)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; High ZNF768 expression is associated with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome",
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},
{
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{
"id": "ZN121_HUMAN",
"url": "https://www.uniprot.org/uniprot/P58317",
"type": "external"
}
],
"mass": 44694.0,
"length": 390,
"protein_name": "Zinc finger protein 121",
"gene_name": "ZNF121",
"organism": "Human",
"refseq_name": "zinc finger protein 121",
"refseq_ac": [
{
"id": "NP_001008727",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008727",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF121; ZNF20",
"gene_names_refseq": "D19S204; ZHC32; ZNF121; ZNF20",
"protein_names_uniprotkb": "Zinc finger protein 121; Zinc finger protein 20",
"protein_names_refseq": "zinc finger protein 121 (clone ZHC32); zinc finger protein 121; zinc finger protein 20",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7675)",
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"publication_id_list": "11237011;20058876;25576301;25892735;26992070;27846572;27988300;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29698681;29769354;30429286;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32938616;33141586;33298915;34185709;35051231;35580925;36010968;37938771;8468057",
"class_list": "",
"function": "Circular RNA hsa_circRNA_103809 promotes lung cancer progression via facilitating ZNF121-dependent MYC expression by sequestering miR-4302., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF121 as a MYC-interacting protein with functional effects on MYC and cell proliferation, [RefSeq, PubMed]",
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},
{
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"uniprot_id": [
{
"id": "VPRE3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKI3",
"type": "external"
}
],
"mass": 13710.0,
"length": 123,
"protein_name": "Pre-B lymphocyte protein 3",
"gene_name": "VPREB3",
"organism": "Human",
"refseq_name": "pre-B lymphocyte protein 3 precursor",
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{
"id": "NP_037510",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_037510",
"type": "external"
}
],
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"gene_names_refseq": "8HS20; N27C7-2; VPREB3",
"protein_names_uniprotkb": "Pre-B lymphocyte protein 3; N27C7-2; Protein VPreB3",
"protein_names_refseq": "pre-B lymphocyte 3; pre-B lymphocyte gene 3; pre-B lymphocyte protein 3 precursor; pre-B lymphocyte protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:29802); (R-HSA-202733)",
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"publication_id_list": "10606205;10702669;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;12975309;14529530;14615387;14670953;15000751;15528364;15681301;15721307;15757909;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18477386;19279206;20823132;21193412;21659548;23945545;24043627;24493312;24764293;2538457;25576301;25861052;28218747;28832583;28904123;29437277;29557506;30315122;30410026;30524438;31154438;31844290;32357974;33298915;33912179;33936100;34371177;468991;7509040;7521878;8163559;8166770;8314844;8491176;9052782;9169774;9242610;9295288;9382878;9693095;9763524",
"class_list": "",
"function": "A possible role for VPREB3 in aldosterone biosynthesis. GeneRIF: levels of VPREB3 mRNA in aldosterone-producing adenomas directly correlate to plasma aldosterone concentrations in peripheral blood of respective patients, [RefSeq, PubMed]; Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells., [UniProtKB]; Data show that the absence of VpreB3 is virtually always associated with wild-type c-MYC alleles., [RefSeq, PubMed]; Mouse VpreB3 associates with mu heavy chains early in pre-B cell receptor biosynthesis, [RefSeq, PubMed]; The combined immunohistochemical detection of VPREB3 and ID3 is applicable to the routine diagnostic in case of mature aggressive B-cell lymphomas., [RefSeq, PubMed]; The present study confirms the co-existence of surrogate lambda and kappa receptors that are proposed to work in concert to promote B lymphocyte maturation., [RefSeq, PubMed]; The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]., [RefSeq]; VpreB3 may play a role in the regulation of the maturation and secretion of free IgLC in chicken B cells, [RefSeq, PubMed]",
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},
{
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{
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],
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"protein_name": "Zinc finger protein 841",
"gene_name": "ZNF841",
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"refseq_ac": [
{
"id": "NP_001129971",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129971",
"type": "external"
}
],
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]",
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{
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{
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{
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}
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"function": "RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study identified ZFP106 as a novel substrate for CBP-mediated acetylation, and showed that the fully disordered isolated ID3 in CREBBP transiently interacts with an IDR of ZFP106 in a fashion that both IDR regions are maintained. Publication Status: Online-Only, [RefSeq, PubMed]; Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane;GO:0016607 nuclear speck",
"go_biological_process": "GO:0008286 insulin receptor signaling pathway",
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},
{
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{
"id": "WDCP_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H6R7",
"type": "external"
}
],
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"protein_name": "WD repeat and coiled-coil-containing protein",
"gene_name": "WDCP",
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"refseq_name": "WD repeat and coiled-coil-containing protein isoform 2",
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{
"id": "NP_001135791",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135791",
"type": "external"
}
],
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"gene_names_refseq": "C2orf44; MMAP; PP384; WDCP",
"protein_names_uniprotkb": "WD repeat and coiled-coil-containing protein",
"protein_names_refseq": "WD repeat and coiled-coil-containing protein C2orf44; WD repeat and coiled-coil-containing protein isoform 2; WD repeat-containing protein C2orf44",
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"go_molecular_function": "GO:0019900 kinase binding",
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},
{
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{
"id": "VCAM1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P19320",
"type": "external"
}
],
"mass": 81276.0,
"length": 739,
"protein_name": "Vascular cell adhesion protein 1",
"gene_name": "VCAM1",
"organism": "Human",
"refseq_name": "vascular cell adhesion protein 1 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001069",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001069",
"type": "external"
}
],
"gene_names_uniprotkb": "VCAM1",
"gene_names_refseq": "CD106; INCAM-100; VCAM1",
"protein_names_uniprotkb": "Vascular cell adhesion protein 1; INCAM-100; V-CAM 1; VCAM-1",
"protein_names_refseq": "CD106 antigen; vascular cell adhesion protein 1 isoform a precursor; vascular cell adhesion protein 1",
"tax_id": 9606,
"disease": "stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); lupus nephritis (Disease Ontology:DOID:0080162); aortic atherosclerosis (Disease Ontology:DOID:10230); hypertension (Disease Ontology:DOID:10763); familial hyperlipidemia (Disease Ontology:DOID:1168); thromboangiitis obliterans (Disease Ontology:DOID:12918); carotid stenosis (Disease Ontology:DOID:13001); interstitial cystitis (Disease Ontology:DOID:13949); pancreatic cancer (Disease Ontology:DOID:1793); essential thrombocythemia (Disease Ontology:DOID:2224); anemia (Disease Ontology:DOID:2355); glomerulonephritis (Disease Ontology:DOID:2921); carotid artery disease (Disease Ontology:DOID:3407); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); aortic disease (Disease Ontology:DOID:520); pulmonary hypertension (Disease Ontology:DOID:6432); gastrointestinal system disease (Disease Ontology:DOID:77); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); rheumatic myocarditis (Disease Ontology:DOID:8481); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:7412); (R-HSA-198933); (R-HSA-216083); (R-HSA-6785807); (R-HSA-877300)",
"pathway_count": 5,
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"class_list": "glycogene",
"function": "Analysis of ICAM-1 rs3093030, VCAM-1 rs3783605, and E-Selectin rs1805193 Polymorphisms in African Women Living with HIV and Preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Associations of Circulating Vascular Cell Adhesion Molecule-1 and Intercellular Adhesion Molecule-1 With Long-Term Cardiac Function., [RefSeq, PubMed]; Cell adhesion glycoprotein predominantly expressed on the surface of endothelial cells that plays an important role in immune surveillance and inflammation. Acts as a major regulator of leukocyte adhesion to the endothelium through interaction with different types of integrins. During inflammatory responses, binds ligands on the surface of activated endothelial cells to initiate the activation of calcium channels and the plasma membrane-associated small GTPase RAC1 leading to leukocyte transendothelial migration. Also serves as a quality-control checkpoint for entry into bone marrow by providing a 'don't-eat-me' stamping in the context of major histocompatibility complex (MHC) class-I presentation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Differentiating Stages of Bipolar and Unipolar Depression-The Possible Role of sICAM-1 and sVCAM-1. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Expression of VCAM1 on Brain Endothelial Cells Drives Blood-Brain Barrier Impairment Following Chronic Cerebral Hypoperfusion., [RefSeq, PubMed]; Interactions between integrin alpha9beta1 and VCAM-1 promote neutrophil hyperactivation and mediate poststroke DVT., [RefSeq, PubMed]; This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]",
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"secondary_ac_list": "A8K6R7;B4DKS4;E9PDD1;Q6NUP8",
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"go_molecular_function": "GO:0005178 integrin binding;GO:0050839 cell adhesion molecule binding;GO:0008131 primary methylamine oxidase activity;GO:0098631 cell adhesion mediator activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane",
"go_biological_process": "GO:0060384 innervation;GO:0022614 membrane to membrane docking;GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007584 response to nutrient",
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},
{
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{
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}
],
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"protein_name": "Testis-specific gene 13 protein",
"gene_name": "TSGA13",
"organism": "Human",
"refseq_name": "testis-specific gene 13 protein",
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{
"id": "NP_001291897",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291897",
"type": "external"
}
],
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"tax_id": 9606,
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"class_list": "",
"function": "Findings provide evidence for genetic association of the TSGA13 gene with total colonic aganglionosis, the most severe subtype of Hirschsprung disease., [RefSeq, PubMed]; The data from the current study strongly suggest the association between TSGA13 and tumor malignancy., [RefSeq, PubMed]",
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},
{
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],
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"protein_name": "UDP-glucuronic acid decarboxylase 1",
"gene_name": "UXS1",
"organism": "Human",
"refseq_name": "UDP-glucuronic acid decarboxylase 1 isoform 1",
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{
"id": "NP_001240804",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240804",
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}
],
"gene_names_uniprotkb": "UXS1; PRO6079",
"gene_names_refseq": "SDR6E1; UGD; UXS1; hUXS1; hUXS",
"protein_names_uniprotkb": "UDP-glucuronic acid decarboxylase 1; 4.1.1.35; UDP-glucuronate decarboxylase 1; UGD; UXS-1; hUXS1; hUXS",
"protein_names_refseq": "UDP-glucuronic acid decarboxylase 1 isoform 1; UDP-glucuronic acid decarboxylase 1; UXS-1; short chain dehydrogenase/reductase family 6E, member 12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:80146); (R-HSA-173599); (R-HSA-1971475)",
"pathway_count": 3,
"publication_count": 71,
"publication_id_list": "10473568;10506123;10842173;11099377;11237011;11322953;11551958;11877387;12391314;12522689;12975309;14993226;15044486;15294915;15461586;15607426;17194707;17599910;18991276;19028698;19473117;19690332;20068231;22810237;23656592;24425863;25502872;25521717;25576301;25732826;26992070;27090790;27846572;28467828;28510447;28832583;28834231;29242379;29314611;29317506;29393594;29485866;29493099;29557506;29632711;31611695;31844290;32157095;32350084;32387766;32488085;32502341;32983136;33392160;33592498;33912179;33936100;33981976;34357683;34433824;34932366;35051231;35154160;35251023;36215666;36241641;38030856;38860481;40836090;9506957;9892646",
"class_list": "glycogene",
"function": "Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose (PubMed:22810237, PubMed:23656592, PubMed:25521717, PubMed:40836090). Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis (PubMed:22810237, PubMed:23656592, PubMed:25521717, PubMed:40836090). Catalyzes the synthesis of UDP-xylose in two steps: the hydroxyl group of UDP-glucuronic acid is first oxidized using an enzyme-bound NAD(+) as electron acceptor, favoring the decarboxylation yielding a UDP-4-ketoxylose reaction intermediate and a reduced cofactor NADH bound to the catalytic pocket (PubMed:22810237, PubMed:40836090). In the second step, the 4-keto group is reduced resulting in UDP-xylose and the restoration of the enzyme to its NAD(+)-bound form (PubMed:22810237, PubMed:40836090)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis. Catalyzes the synthesis of UDP-xylose in two steps: the hydroxyl group of UDP-glucuronic acid is first oxidized using an enzyme-bound NAD(+) as electron acceptor, favoring the decarboxylation yielding a UDP-4-ketoxylose reaction intermediate and a reduced cofactor NADH bound to the catalytic pocket. In the second step, the 4-keto group is reduced resulting in UDP-xylose and the restoration of the enzyme to its NAD(+)-bound form., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Complementation was achieved by expression of a cytoplasmic variant of UDP-xylose Synthase, which proves the existence of a functional Golgi UDP-xylose transporter[UDP-xylose Synthase], [RefSeq, PubMed]; HUXS forms a tetramer in solution that is important for activity. The higher activity of the tetramer coupled with the relative instability of the dimeric complex suggests that an association-dissociation mechanism may regulate hUXS activity., [RefSeq, PubMed]; The persistence of a latent hexamer-building interface in the human enzyme suggests that the ancestral UXS may have been a hexamer., [RefSeq, PubMed]; This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; UDP-glucuronate decarboxylase, a key enzyme in proteoglycan synthesis: cloning, characterization, and localization., [RefSeq, PubMed]; UXS1: a sweet spot for cell death., [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"predicted_c_glycosites": 0,
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"biomarker_type": "",
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"secondary_ac_list": "Q8NBX3;Q9H5C2",
"ec_number_list": [
{
"id": "4.1.1.35",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.35",
"type": "external"
}
],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0070403 NAD+ binding;GO:0048040 UDP-glucuronate decarboxylase activity;GO:0016831 carboxy-lyase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0042732 D-xylose metabolic process;GO:0006024 glycosaminoglycan biosynthetic process;GO:0033320 UDP-D-xylose biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 7.4,
"record_id": "Q8NBZ7-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6ZN11-1",
"uniprot_id": [
{
"id": "ZN793_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ZN11",
"type": "external"
}
],
"mass": 46927.0,
"length": 406,
"protein_name": "Zinc finger protein 793",
"gene_name": "ZNF793",
"organism": "Human",
"refseq_name": "zinc finger protein 793",
"refseq_ac": [
{
"id": "NP_001013681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013681",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF793",
"gene_names_refseq": "ZNF793",
"protein_names_uniprotkb": "Zinc finger protein 793",
"protein_names_refseq": "zinc finger protein 793",
"tax_id": 9606,
"disease": "Barrett's esophagus (Disease Ontology:DOID:9206)",
"pathway": " (hsa:390927); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 17,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26545406;30379171;31217245;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "B3GAT2 and ZNF793 are hypermethylated in BE, and the methylation status of these genes can be used to detect BE in tissue samples., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]",
"predicted_glycosites": 0,
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"glyco_site_count": 0,
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"secondary_ac_list": "E9PGN4;Q7Z3Q9",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 2.0,
"record_id": "Q6ZN11-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O75437-1",
"uniprot_id": [
{
"id": "ZN254_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75437",
"type": "external"
}
],
"mass": 77160.0,
"length": 659,
"protein_name": "Zinc finger protein 254",
"gene_name": "ZNF254",
"organism": "Human",
"refseq_name": "zinc finger protein 254 isoform b",
"refseq_ac": [
{
"id": "NP_975011",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_975011",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF254; BMZF5; ZNF539; ZNF91L",
"gene_names_refseq": "BMZF-5; HD-ZNF1; ZNF254; ZNF539; ZNF91L",
"protein_names_uniprotkb": "Zinc finger protein 254; BMZF-5; Bone marrow zinc finger 5; HD-ZNF1; Hematopoietic cell-derived zinc finger protein 1; Zinc finger protein 539; Zinc finger protein 91-like",
"protein_names_refseq": "CTD-2017D11.1; bone marrow zinc finger 5; hematopoietic cell-derived zinc finger protein 1; zinc finger protein 254 isoform b; zinc finger protein 539",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9534); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 32,
"publication_id_list": "10235266;10330177;10585455;11237011;11395415;14519192;15175151;15777939;15896744;16606702;16719718;2163759;25880248;26992070;28832583;28834231;29493099;29786170;30315122;30833945;31154438;31217245;31844290;33537174;33981976;34185709;37217939;8183939;8769649;9637681;9653119;9653160",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]., [RefSeq]",
"predicted_glycosites": 0,
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"secondary_ac_list": "A4QPC0;Q86XL7",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 3.5,
"record_id": "O75437-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8N398-1",
"uniprot_id": [
{
"id": "VW5B2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N398",
"type": "external"
}
],
"mass": 131668.0,
"length": 1242,
"protein_name": "von Willebrand factor A domain-containing protein 5B2",
"gene_name": "VWA5B2",
"organism": "Human",
"refseq_name": "von Willebrand factor A domain-containing protein 5B2 isoform 2",
"refseq_ac": [
{
"id": "NP_001307302",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307302",
"type": "external"
}
],
"gene_names_uniprotkb": "VWA5B2",
"gene_names_refseq": "VWA5B2",
"protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 5B2",
"protein_names_refseq": "von Willebrand factor A domain-containing protein 5B2 isoform 2; von Willebrand factor A domain-containing protein 5B2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90113)",
"pathway_count": 1,
"publication_count": 4,
"publication_id_list": "25576301;30779550;35051231;35154160",
"class_list": "",
"function": "",
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},
{
"uniprot_canonical_ac": "Q9BX84-1",
"uniprot_id": [
{
"id": "TRPM6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BX84",
"type": "external"
}
],
"mass": 231708.0,
"length": 2022,
"protein_name": "Transient receptor potential cation channel subfamily M member 6",
"gene_name": "TRPM6",
"organism": "Human",
"refseq_name": "transient receptor potential cation channel subfamily M member 6 isoform b",
"refseq_ac": [
{
"id": "NP_001170781",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001170781",
"type": "external"
}
],
"gene_names_uniprotkb": "TRPM6; CHAK2",
"gene_names_refseq": "CHAK2; HMGX; HOMG1; HOMG; HSH; TRPM6",
"protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 6; 2.7.11.1; Channel kinase 2; Melastatin-related TRP cation channel 6",
"protein_names_refseq": "channel kinase 2; melastatin-related TRP cation channel 6; transient receptor potential cation channel subfamily M member 6 isoform b",
"tax_id": 9606,
"disease": "chromosome 15q13.3 microdeletion syndrome (Disease Ontology:DOID:0060394); primary hypomagnesemia (Disease Ontology:DOID:0060879); intestinal hypomagnesemia 1 (Disease Ontology:DOID:0060883); metal metabolism disorder (Disease Ontology:DOID:896)",
"pathway": " (hsa:140803); (R-HSA-3295583)",
"pathway_count": 2,
"publication_count": 54,
"publication_id_list": "11050376;11226139;11243859;11301059;11357414;12015988;12032568;12032570;1422598;14576148;14634208;14976260;16636202;17197439;17344846;18258429;18365021;18490453;19664994;20025796;20716668;23481700;23942199;24385424;24715725;25389312;25765567;25855297;25892735;27543614;28220887;28228285;28784805;29242379;29557506;29769354;29789417;30524438;31400133;31505788;31530632;31844290;33091337;33912179;34019948;34087483;34171305;34185709;34326388;35051231;35216094;35580925;37759402;38253038",
"class_list": "",
"function": "Bifunctional protein that combines an ion channel with an intrinsic kinase domain, enabling it to modulate cellular functions either by conducting ions through the pore or by phosphorylating downstream proteins via its kinase domain (PubMed:14576148, PubMed:16636202, PubMed:18258429, PubMed:18365021). Crucial for Mg(2+) homeostasis. Has an important role in epithelial Mg(2+) transport and in the active Mg(2+) absorption in the gut and kidney (PubMed:14576148). However, whether TRPM6 forms functional homomeric channels by itself or functions primarily as a subunit of heteromeric TRPM6-TRPM7 channels, is still under debate (PubMed:14576148, PubMed:16636202, PubMed:24385424)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Data unambiguously confirm that CaM and S100A1 share the same binding domain at the TRPM6 N-terminus although the ligand-binding mechanism is different. Publication Status: Online-Only, [RefSeq, PubMed]; Deficiency /mutations of TRPM6 causes hypomagnesemia with secondary hypocalcemia, [RefSeq, PubMed]; Evidence for the expression of TRPM6 and TRPM7 in cardiomyocytes from all four chamber walls of the human heart. Publication Status: Online-Only, [RefSeq, PubMed]; Individuals with TRPM6 mutations have abnormal renal magnesium excretion. Deficiency causes hypomagnesemia with secondary hypocalcemia., [RefSeq, PubMed]; Magnesium Status, Genetic Variants of Magnesium-Related Ion Channel Transient Receptor Potential Membrane Melastatin 6 (TRPM6) and the Risk of Gestational Diabetes Mellitus in Chinese Pregnant Women: A Nested Case-Control Study., [RefSeq, PubMed]; The C-terminal kinase domain can be cleaved from the channel segment in a cell-type-specific fashion. The cleaved kinase fragments can translocate to the nucleus, and bind chromatin-remodeling complex proteins to ultimately phosphorylate specific Ser/Thr residues of histones known to be functionally important for cell differentiation and development., [UniProtKB, PubMed]; The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies hypocalcemia secondary to hypomagnesemia in this pedigree., [RefSeq, PubMed]; This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]., [RefSeq]; Transcriptional Control of Trpm6 by the Nuclear Receptor FXR. Publication Status: Online-Only, [RefSeq, PubMed]",
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{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "2.7.11.21",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21",
"type": "external"
},
{
"id": "2.7.12.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2",
"type": "external"
},
{
"id": "2.7.11.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-",
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],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane",
"go_biological_process": "GO:1903830 magnesium ion transmembrane transport;GO:0051262 protein tetramerization;GO:0006816 calcium ion transport;GO:0098655 monoatomic cation transmembrane transport;GO:0009636 response to toxic substance",
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],
"mass": 57545.0,
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"id": "NP_079526",
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],
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"protein_names_refseq": "hTTY3; protein tweety homolog 3; tweety homolog 3; volume-regulated anion channel subunit TTYH3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:80727); (R-HSA-2672351)",
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"function": "Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like glutamate (By similarity). Probable large-conductance Ca(2+)-activated chloride channel (PubMed:15010458)., [UniProtKB, UniProtKB, PubMed]; Nedd4-2 differentially interacts with and regulates TTYH1-3, [RefSeq, PubMed]; Probable chloride channel., [UniProtKB, UniProtKB, UniProtKB]; TTYH3 Modulates Bladder Cancer Proliferation and Metastasis via FGFR1/H-Ras/A-Raf/MEK/ERK Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TTYH3 Promotes Cervical Cancer Progression by Activating the Wnt/beta-Catenin Signaling Pathway., [RefSeq, PubMed]; TTYH3 promotes the malignant progression of oral squamous cell carcinoma SCC-9 cells by regulating tumor-associated macrophage polarization., [RefSeq, PubMed]; The TTYH3/MK5 Positive Feedback Loop regulates Tumor Progression via GSK3-beta/beta-catenin signaling in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
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{
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],
"go_molecular_function": "GO:0072320 volume-sensitive chloride channel activity;GO:0005509 calcium ion binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0034707 chloride channel complex",
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{
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{
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],
"mass": 99562.0,
"length": 862,
"protein_name": "Short transient receptor potential channel 7",
"gene_name": "TRPC7",
"organism": "Human",
"refseq_name": "short transient receptor potential channel 7 isoform 3",
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{
"id": "NP_001161048",
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],
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"protein_names_refseq": "likley ortholog of mouse transient receptor potential cation channel, subfamily C, member 7; putative capacitative calcium channel; short transient receptor potential channel 7 isoform 3; short transient receptor potential channel 7; transient receptor protein 7",
"tax_id": 9606,
"disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung cancer (Disease Ontology:DOID:1324)",
"pathway": " (hsa:57113); (R-HSA-114508); (R-HSA-139853); (R-HSA-3295583); (R-HSA-418890)",
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"publication_id_list": "11050376;11080611;11226139;11243859;11301059;11413485;11805119;12015988;1422598;14634208;15342342;15757897;15972814;16123040;17850865;18452278;19033211;19240791;19812035;20025796;20716668;21402151;2175712;24470487;2457808;25389312;25765567;25855297;29557506;31755176;31844290;31848261;32387766;32938616;35051231;36215666;8646775;9565569;9601053;9930701",
"class_list": "",
"function": "A fundamental role for PI(4,5)P2 was identified in the regulation of TRPC7 and TRPC6., [RefSeq, PubMed]; Can be activated by both receptor- and store-operated modes in the same cell., [RefSeq, PubMed]; Cloning and functional expression of human short TRP7, a candidate protein for store-operated Ca2+ influx, [RefSeq, PubMed]; Endogenous TRPC1, TRPC3, and TRPC7 participate in forming heteromeric store-operated channels, whereas TRPC3 and TRPC7 can also participate in forming heteromeric receptor-operated channels., [RefSeq, PubMed]; Heteromeric cation channels comprised of the TRPP2 mutant and the TRPC3 or TRPC7 protein induce enhanced receptor-activated Ca(2+) influx that may lead to dysregulated cell growth in ADPKD, [RefSeq, PubMed]; In B-lymphocytes, TRPC7 appears to participate in the formation of ion channels that could be activated by phospholipase C-linked receptors, [RefSeq, PubMed]; Nociceptive transient receptor potential canonical 7 (TRPC7) mediates aging-associated tumorigenesis induced by ultraviolet B., [RefSeq, PubMed]; Non-selective, calcium-permeable cation channel. Also transports maganese. Contributes to both spontaneous and receptor stimulation-induced cationic currents. Receptor stimulation, including that of G(q)-coupled or receptor tyrosine kinase pathways, triggers phospholipase C (PLC)-mediated hydrolysis of phosphatidylinositides, producing diacylglycerol (DAG) that activates TRPC7. May also be activated by depletion of intracellular calcium stores. Mediates depolarization of intrinsically photosensitive retinal ganglion cells (ipRGCs) in response to light-induced melanopsin (OPN4)-mediated phototransduction via G(q)-PLC signaling, likely by forming heteromeric TRPC6-TRPC7 channels., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphorylation of transient receptor potential cation channel subfamily C member 7 significantly suppressed carbachol-induced calcium influx and CREB phosphorylation., [RefSeq, PubMed]",
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{
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],
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"go_cellular_component": "GO:0034703 cation channel complex;GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0051480 regulation of cytosolic calcium ion concentration;GO:0007338 single fertilization;GO:0070588 calcium ion transmembrane transport",
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{
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057105",
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],
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"gene_names_refseq": "CGI-76; HSPC153; HSPC205; HSU93243; NCUBE-1; NCUBE1; UBC6E; UBC6; UBE2J1; Ubc6p",
"protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 J1; 2.3.2.23; E2 ubiquitin-conjugating enzyme J1; HsUBC6e; NCUBE-1; Non-canonical ubiquitin-conjugating enzyme 1; Yeast ubiquitin-conjugating enzyme UBC6 homolog E",
"protein_names_refseq": "E2 ubiquitin-conjugating enzyme J1; HSUBC6e; non-canonical ubiquitin-conjugating enzyme 1; ubiquitin-conjugating enzyme E2 J1; ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast); ubiquitin-conjugating enzyme E2, J1, U; yeast ubiquitin-conjugating enzyme UBC6 homolog E",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51465); (R-HSA-983168)",
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"function": "(Microbial infection) Promotes Dengue virus RNA replication by negatively regulating IFN-beta signaling and mediating 'Lys-48'-linked ubiquitination on IRF3 (PubMed:30157886)., [UniProtKB, PubMed]; Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD) and is essential for cells to recover from ER stress (PubMed:28321712). Plays a role in MAPKAPK2-dependent translational control of TNF synthesis (PubMed:24020373). Also acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 through interaction with the E3 ubiquitin-protein ligase RNF26 (PubMed:33472082). Plays a role in male fecundity through the interaction with the E3 ubiquitin-protein ligase RNF133 (PubMed:35831855)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2J1 inhibits colorectal cancer progression by promoting ubiquitination and degradation of RPS3., [RefSeq, PubMed]; UBE2J1 is the E2 ubiquitin-conjugating enzyme regulating androgen receptor degradation and antiandrogen resistance., [RefSeq, PubMed]; Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer progression via PI3K/AKT pathway., [RefSeq, PubMed]",
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{
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{
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{
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{
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{
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{
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{
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{
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{
"id": "NP_872294",
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"protein_names_refseq": "deubiquitinating enzyme 12; ubiquitin carboxyl-terminal hydrolase 12; ubiquitin specific protease 12 like 1; ubiquitin thioesterase 12; ubiquitin thiolesterase 12; ubiquitin-hydrolyzing enzyme 1; ubiquitin-specific-processing protease 12",
"tax_id": 9606,
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"class_list": "",
"function": "(Microbial infection) Forms a complex with Epstein-Barr virus protein EBNA3 which is an active deubiquitinase activity that may select specific substrates to promote B-lymphocyte transformation., [UniProtKB, PubMed]; Deubiquitinating enzyme that plays various roles in the regulation of the immune response and inflammation (PubMed:19075014, PubMed:27373336). During TCR engagement and activation, translocates into the cytoplasm and deubiquitinates its substrates LAT and TRAT1 and prevents their lysosome-dependent degradation to stabilize the TCR signaling complex at the plasma membrane (PubMed:26811477). Plays an essential role in the selective LPS-induced macrophage response through the activation of NF-kappa-B pathway (PubMed:28063927). In addition, promotes that antiviral immune response through targeting DNA sensor IFI16 to inhibit its proteasome-dependent degradation (PubMed:37410794). Participates in the interferon signaling pathway and antiviral response independently of its deubiquitinase activity by maintaining nuclear phosphorylated STAT1 levels via inhibition of its CREBBP-mediated acetylation and subsequent dephosphorylation (PubMed:31899788). Plays an intrinsic role in promoting the differentiation, activation and proliferation of CD4(+) T-cell by activating the NF-kappa-B signaling pathway through deubiquitinating and stabilizing B-cell lymphoma/leukemia 10/BCL10 (By similarity). In myeloid-derived suppressor cells promotes the activation of the NF-kappa-B via deubiquitination and stabilization of RELA (By similarity). Regulates the 'Lys-63'-linked polyubiquitin chains of BAX and thereby modulates the mitochondrial apoptotic process (PubMed:36361894). Negative regulator of NOTCH signaling that specifically deubiquitinates non-activated NOTCH receptors to target them for lysosomal degradation; deubiquitination of NOTCH stimulates its transport form late endosomes to lysosomes (PubMed:22778262). Protects neurons against HTT/huntingtin-induced polyglutamine expansion-dependent neurodegeneration through regulation of autophagic flux (PubMed:30266909). This function is independent of deubiquitinase activity or of other components of the USP12-WDR20-WDR48 deubiquitinating complex (By similarity). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Two novel multisubunit deubiquitinating enzyme complexes containing USP12 and USP46, respectively. Both complexes contain the UAF1 protein as a bona fide subunit. Interestingly, UAF1, [RefSeq, PubMed]; USP12 positively regulates M-MDSC function to inhibit antitumour immunity through deubiquitinating and stabilizing p65., [RefSeq, PubMed]; USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2., [RefSeq, PubMed]; USP12 regulates ER stress-associated osteogenesis in human periodontal ligament cells under tension stress., [RefSeq, PubMed]; WDR20 prevents hepatocellular carcinoma senescence by orchestrating the simultaneous USP12/46-mediated deubiquitination of c-Myc., [RefSeq, PubMed]",
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{
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}
],
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},
{
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},
{
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],
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{
"id": "NP_001107875",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107875",
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}
],
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"protein_names_refseq": "uroplakin 3C protein; uroplakin-3-like protein; uroplakin-3b-like protein 1 precursor; uroplakin-3b-like protein 1; uroplakin-like protein",
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{
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],
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],
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"protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 12",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)",
"pathway": " (hsa:100287205); (R-HSA-5689880)",
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{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "3.6.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13",
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},
{
"id": "3.1.3.48",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48",
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},
{
"id": "3.4.26.1",
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}
],
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},
{
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{
"id": "USP9Y_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00507",
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}
],
"mass": 291077.0,
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"protein_name": "Ubiquitin carboxyl-terminal hydrolase 9Y",
"gene_name": "USP9Y",
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"refseq_name": "ubiquitin carboxyl-terminal hydrolase 9Y",
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{
"id": "NP_004645",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645",
"type": "external"
}
],
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"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 9Y; 3.4.19.12; Deubiquitinating enzyme FAF-Y; Fat facets protein-related, Y-linked; Ubiquitin thioesterase FAF-Y; Ubiquitin-specific protease 9, Y chromosome; Ubiquitin-specific-processing protease FAF-Y",
"protein_names_refseq": "azoospermia factor A; deubiquitinating enzyme FAF-Y; fat facets protein-related, Y-linked; probable ubiquitin carboxyl-terminal hydrolase FAF-Y; ubiquitin carboxyl-terminal hydrolase 9Y; ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila); ubiquitin thioesterase FAF-Y; ubiquitin thiolesterase FAF-Y; ubiquitin-specific processing protease FAF-Y; ubiquitin-specific protease 9, Y chromosome",
"tax_id": 9606,
"disease": "Y-linked spermatogenic failure 2 (Disease Ontology:DOID:0070187)",
"pathway": " (hsa:8287)",
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"go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0016491 oxidoreductase activity;GO:0008121 quinol-cytochrome-c reductase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane;GO:0045275 respiratory chain complex III",
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{
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{
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"url": "https://www.uniprot.org/uniprot/Q16864",
"type": "external"
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],
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"protein_name": "V-type proton ATPase subunit F",
"gene_name": "ATP6V1F",
"organism": "Human",
"refseq_name": "V-type proton ATPase subunit F isoform 2",
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{
"id": "NP_001185838",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185838",
"type": "external"
}
],
"gene_names_uniprotkb": "ATP6V1F; ATP6S14; VATF",
"gene_names_refseq": "ATP6S14; ATP6V1F; VATF; Vma7",
"protein_names_uniprotkb": "V-type proton ATPase subunit F; V-ATPase 14 kDa subunit; V-ATPase subunit F; Vacuolar proton pump subunit F",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F; ATPase, vacuolar, 14 kD; H(+)-transporting two-sector ATPase, 14kD subunit; V-ATPase 14 kDa subunit; V-ATPase F subunit; V-ATPase subunit F; V-type proton ATPase subunit F isoform 2; V-type proton ATPase subunit F; adenosinetriphosphatase 14k chain; vacuolar ATP synthase subunit F; vacuolar proton pump F subunit; vacuolar proton pump subunit F",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9296); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)",
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"function": "Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0015078 proton transmembrane transporter activity;GO:0046961 proton-transporting ATPase activity, rotational mechanism;GO:0042625 ATPase-coupled ion transmembrane transporter activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0097401 synaptic vesicle lumen acidification;GO:0007035 vacuolar acidification;GO:1902600 proton transmembrane transport",
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},
{
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"type": "external"
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],
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"protein_name": "V-type proton ATPase subunit S1-like protein",
"gene_name": "ATP6AP1L",
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},
{
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{
"id": "VAX1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5SQQ9",
"type": "external"
}
],
"mass": 34713.0,
"length": 334,
"protein_name": "Ventral anterior homeobox 1",
"gene_name": "VAX1",
"organism": "Human",
"refseq_name": "ventral anterior homeobox 1 isoform a",
"refseq_ac": [
{
"id": "NP_001106175",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106175",
"type": "external"
}
],
"gene_names_uniprotkb": "VAX1",
"gene_names_refseq": "MCOPS11; VAX1",
"protein_names_uniprotkb": "Ventral anterior homeobox 1",
"protein_names_refseq": "ventral anterior homeobox 1 isoform a",
"tax_id": 9606,
"disease": "syndromic microphthalmia 11 (Disease Ontology:DOID:0111804)",
"pathway": " (hsa:11023)",
"pathway_count": 1,
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"publication_id_list": "22095910;28218747;29437277;33132092;35051231;35075162;35419918;38608796",
"class_list": "",
"function": "Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Target sequencing reveals the association between variants in VAX1 and NSCL/P in Chinese population., [RefSeq, PubMed]; The potential up-regulation risk of 3' UTR SNP (rs10787760 G > A) for the VAX1 gene is associated with NSCLP in the northwest Chinese population., [RefSeq, PubMed]; The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese., [RefSeq, PubMed]; This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity)., [UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development;GO:0007420 brain development;GO:0030182 neuron differentiation",
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},
{
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{
"id": "UFSP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6NVU6",
"type": "external"
}
],
"mass": 23253.0,
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"protein_name": "Ufm1-specific protease 1",
"gene_name": "UFSP1",
"organism": "Human",
"refseq_name": "ufm1-specific protease 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001015072",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015072",
"type": "external"
}
],
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"tax_id": 9606,
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"function": "Human UFSP1 is an active protease that regulates UFM1 maturation and UFMylation., [RefSeq, PubMed]; Human UFSP1 translated from an upstream near-cognate initiation codon functions as an active UFM1-specific protease., [RefSeq, PubMed]; Thiol-dependent isopeptidase that specifically mediate the processing of UFM1 precursors as well as the deconjugation of UFM1 from target proteins (PubMed:35525273, PubMed:35926457). Mainly responsible for the maturation of the UFM1 precursor, a prerequisite for conjugation reactions (PubMed:35525273, PubMed:35926457)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]., [RefSeq]",
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},
{
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{
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{
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}
],
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},
{
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{
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"type": "external"
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],
"mass": 64991.0,
"length": 589,
"protein_name": "Vesicular glutamate transporter 3",
"gene_name": "SLC17A8",
"organism": "Human",
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{
"id": "NP_001138760",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138760",
"type": "external"
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],
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"protein_names_uniprotkb": "Vesicular glutamate transporter 3; Solute carrier family 17 member 8; VGluT3",
"protein_names_refseq": "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8; solute carrier family 17 (vesicular glutamate transporter), member 8; vesicular glutamate transporter 3 isoform 2; vesicular glutamate transporter 3",
"tax_id": 9606,
"disease": "Parkinsonism (Disease Ontology:DOID:0080855); autosomal dominant nonsyndromic deafness 25 (Disease Ontology:DOID:0110555); sciatic neuropathy (Disease Ontology:DOID:11446); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); cochlear disease (Disease Ontology:DOID:5463); trichinosis (Disease Ontology:DOID:9784)",
"pathway": " (hsa:246213); (R-HSA-442660); (R-HSA-5619076); (R-HSA-9662360)",
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"publication_count": 37,
"publication_id_list": "10025409;10446133;10684912;10889531;10973981;11163272;11698620;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;17502375;17726476;18599538;18674745;2008212;2387399;25576301;26992070;28647561;31844290;32873747;33440152;34087483;34145196;35051231;7651355;7874447;8125921;8183239;8632143;9845349",
"class_list": "",
"function": "Human vesicular glutamate transporter 3 was cloned, shows 72% identity to both hVGLUT1 and hVGLUT2, and its expression in brain overlaps with hVGLUT1 and hVGLUT2, [RefSeq, PubMed]; Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:12151341, PubMed:33440152). At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:12151341). The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:12151341). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable). The symporter activity is electrogenic (PubMed:33440152). Moreover, operates synergistically with SLC18A3/VACHT under a constant H(+) gradient, thereby allowing striatal vesicular acetylcholine uptake (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Novel pathogenic splicing mutation in SLC17A8 gene identified in a family with hearing loss., [RefSeq, PubMed]; Targeting Vesicular Glutamate Transporter Machinery: Implications on Metabotropic Glutamate Receptor 5 Signaling and Behavior. Review article, [RefSeq, PubMed]; The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3., [RefSeq, PubMed]; This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
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{
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{
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],
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"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0043204 perikaryon;GO:0043679 axon terminus;GO:0030672 synaptic vesicle membrane",
"go_biological_process": "GO:0003407 neural retina development;GO:0050803 regulation of synapse structure or activity;GO:0035249 synaptic transmission, glutamatergic;GO:0007605 sensory perception of sound;GO:0055062 phosphate ion homeostasis",
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},
{
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],
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"go_molecular_function": "GO:0005550 pheromone binding;GO:0016503 pheromone receptor activity",
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],
"gene_names_uniprotkb": "ATP5MK; ATP5MD; DAPIT; HCVFTP2; PD04912; USMG5",
"gene_names_refseq": "AGP; ATP5MD; ATP5MK; DAPIT; HCVFTP2; MC5DN6; USMG5; bA792D24.4",
"protein_names_uniprotkb": "ATP synthase F(0) complex subunit k, mitochondrial; ATP synthase membrane subunit DAPIT, mitochondrial; Diabetes-associated protein in insulin-sensitive tissues; HCV F-transactivated protein 2; Up-regulated during skeletal muscle growth protein 5",
"protein_names_refseq": "ATP synthase F(0) complex subunit k, mitochondrial; ATP synthase membrane subunit DAPIT, mitochondrial; ATP synthase membrane subunit K, mitochondrial; Diabetes Associated Protein in Insulin-sensitive Tissues; HCV F-transactivated protein 2; diabetes-associated protein in insulin-sensitive tissues; up-regulated during skeletal muscle growth 5 homolog; up-regulated during skeletal muscle growth protein 5; upregulated during skeletal muscle growth 5 homolog",
"tax_id": 9606,
"disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (Disease Ontology:DOID:0111749)",
"pathway": " (hsa:84833); (R-HSA-163210); (R-HSA-8949613)",
"pathway_count": 3,
"publication_count": 103,
"publication_id_list": "14654843;16222733;17074750;17121862;17510655;17624330;18323778;20112406;20833715;21345788;21836051;22114354;22252321;22864911;24098383;24687277;24715725;25285856;25418920;25576301;25645385;25764979;25781180;25810538;25880248;25997101;26154972;26161955;26375851;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27600516;27623147;27846572;27862975;28063628;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28855257;28904123;29234032;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29769354;29786170;29789417;29917077;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31611695;31844290;31848261;32157095;32161166;32265295;32488085;32897882;32983136;33123756;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34357683;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;4517936;8265661",
"class_list": "",
"function": "DAPIT over-expression thus appears to modulate mitochondrial functions and alter cellular regulations, promote anaerobic metabolism and induce EMT-like transition. Erratum:[PLoS One. 2015 Oct 15;10(10):e0141036. doi: 10.1371/journal.pone.0141036. PMID: 26469334] Publication Status: Online-Only, [RefSeq, PubMed]; Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (By similarity). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (By similarity). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (By similarity). Required for dimerization of the ATP synthase complex and as such regulates ATP synthesis in the mitochondria (PubMed:21345788, PubMed:29917077)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; To determine whether USMG5 is related to the development of heart failure, authors performed clinical and experimental studies. Microarray analysis showed that the expression levels of USMG5 were positively correlated with those of natriuretic peptide precursor A in the human failed myocardium. Erratum:[Sci Rep. 2018 May 14;8(1):7768. doi: 10.1038/s41598-018-26012-4. PMID: 29760517] Publication Status: Online-Only, [RefSeq, PubMed]",
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"reported_mutagensis": 0,
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"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
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"disease_count": 1,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B2R4N2;D3DR92",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex",
"go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis",
"synthesized_glycan_count": 0,
"hit_score": 10.6,
"record_id": "Q96IX5-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96LB4-1",
"uniprot_id": [
{
"id": "VATG3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LB4",
"type": "external"
}
],
"mass": 13917.0,
"length": 118,
"protein_name": "V-type proton ATPase subunit G 3",
"gene_name": "ATP6V1G3",
"organism": "Human",
"refseq_name": "V-type proton ATPase subunit G 3 isoform c",
"refseq_ac": [
{
"id": "NP_001307147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307147",
"type": "external"
}
],
"gene_names_uniprotkb": "ATP6V1G3; ATP6G3",
"gene_names_refseq": "ATP6G3; ATP6V1G3; Vma10",
"protein_names_uniprotkb": "V-type proton ATPase subunit G 3; V-ATPase 13 kDa subunit 3; V-ATPase subunit G 3; Vacuolar proton pump subunit G 3",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3; ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3; V-ATPase 13 kDa subunit 3; V-ATPase G subunit 3; V-ATPase G3 subunit; V-ATPase subunit G 3; V-type proton ATPase subunit G 3 isoform c; V-type proton ATPase subunit G 3; vacuolar ATP synthase subunit G 3; vacuolar proton pump G subunit 3; vacuolar proton pump subunit G 3; vacuolar proton pump, subunit G3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:127124); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)",
"pathway_count": 6,
"publication_count": 82,
"publication_id_list": "10029572;10409623;10802645;11237855;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;19366680;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25819761;26205815;26449471;26586190;26972053;27308486;27487210;27648300;28066558;28199306;28199315;2825632;2848506;29053970;29056322;29123071;29236692;29596046;2986535;30061680;30181260;30337524;3061785;30651352;33028803;38665916;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760",
"class_list": "",
"function": "ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous Abortion: An Integrated Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; V-ATPases affecting the pH of the cytosol and intracellular compartments, particularly those containing a3, are also involved in invasion in breast cancer, [RefSeq, PubMed]",
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"secondary_ac_list": "Q495K2;Q495K4;Q5T9L6",
"ec_number_list": [],
"go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism",
"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030672 synaptic vesicle membrane;GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain",
"go_biological_process": "GO:0097401 synaptic vesicle lumen acidification",
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"hit_score": 8.5,
"record_id": "Q96LB4-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H322-1",
"uniprot_id": [
{
"id": "VCX2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H322",
"type": "external"
}
],
"mass": 14661.0,
"length": 139,
"protein_name": "Variable charge X-linked protein 2",
"gene_name": "VCX2",
"organism": "Human",
"refseq_name": "variable charge X-linked protein 2",
"refseq_ac": [
{
"id": "NP_057462",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057462",
"type": "external"
}
],
"gene_names_uniprotkb": "VCX2; VCX2R; VCXB",
"gene_names_refseq": "VCX-2r; VCX2R; VCX2; VCXB",
"protein_names_uniprotkb": "Variable charge X-linked protein 2; VCX-2r; VCX-B; Variable charge protein on X with two repeats; Variably charged protein X-B",
"protein_names_refseq": "variable charge X-linked protein 2; variable charge protein on X with two repeats; variably charged protein X-B; variably charged, X chromosome 2; variably charged, X chromosome B; variably charged, X chromosome, with 2 repeats",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51480)",
"pathway_count": 1,
"publication_count": 2,
"publication_id_list": "10607842;10903929",
"class_list": "",
"function": "May mediate a process in spermatogenesis or may play a role in sex ratio distortion., [UniProtKB]; This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in cognitive disability. [provided by RefSeq, Feb 2015]., [RefSeq]",
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"missing_score": 10000,
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"secondary_ac_list": "A3KPB6;Q4V9T2;Q9P0H5",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "",
"go_biological_process": "GO:0007420 brain development",
"synthesized_glycan_count": 0,
"hit_score": 0.3,
"record_id": "Q9H322-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9P2U8-1",
"uniprot_id": [
{
"id": "VGLU2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2U8",
"type": "external"
}
],
"mass": 64392.0,
"length": 582,
"protein_name": "Vesicular glutamate transporter 2",
"gene_name": "SLC17A6",
"organism": "Human",
"refseq_name": "vesicular glutamate transporter 2",
"refseq_ac": [
{
"id": "NP_065079",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065079",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC17A6; DNPI; VGLUT2",
"gene_names_refseq": "DNPI; SLC17A6; VGLUT2",
"protein_names_uniprotkb": "Vesicular glutamate transporter 2; Differentiation-associated BNPI; Differentiation-associated Na(+)-dependent inorganic phosphate cotransporter; Solute carrier family 17 member 6; VGluT2",
"protein_names_refseq": "differentiation-associated BNPI; differentiation-associated Na(+)-dependent inorganic phosphate cotransporter; differentiation-associated Na-dependent inorganic phosphate cotransporter; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6; solute carrier family 17 (vesicular glutamate transporter), member 6; vesicular glutamate transporter 2",
"tax_id": 9606,
"disease": "neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224)",
"pathway": " (hsa:57084); (R-HSA-442660)",
"pathway_count": 2,
"publication_count": 36,
"publication_id_list": "10446133;10684912;10820226;10889531;10973981;11698620;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;16959974;17502375;17531353;17726476;18599538;2008212;23481700;2387399;25645385;26386900;26439639;30203849;31844290;33440152;34994539;7651355;7874447;8125921;8183239;8632143;9845349",
"class_list": "",
"function": "Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate (PubMed:11698620, PubMed:33440152). At the synaptic vesicle membrane, mainly functions as a uniporter which transports preferentially L-glutamate but also, phosphate from the cytoplasm into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:11698620). The L-glutamate or phosphate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:11698620). In addition, functions as a chloride channel that allows the chloride permeation through the synaptic vesicle membrane therefore affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). Moreover, functions as a vesicular K(+)/H(+) antiport allowing to maintain the electrical gradient and to decrease chemical gradient and therefore sustain vesicular glutamate uptake (By similarity). The vesicular H(+)/H(+) antiport activity is electroneutral (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable) (PubMed:10820226). The symporter activity is driven by an inside negative membrane potential and is electrogenic (Probable). Also involved in the regulation of retinal hyaloid vessel regression during postnatal development (By similarity). May also play a role in the endocrine glutamatergic system of other tissues such as pineal gland and pancreas (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Our results suggest that VGLUT1 expression in the prefrontal cortex could be used as a valuable neurochemical marker of dementia in AD., [RefSeq, PubMed]; Roles of VGLUT2 and Dopamine/Glutamate Co-Transmission in Selective Vulnerability to Dopamine Neurodegeneration. Review article, [RefSeq, PubMed]; These findings indicate that VGluT2-expressing excitatory neurons play a crucial role in mediating nociceptive transmission in the spinal dorsal horn, [RefSeq, PubMed]; This study demonstrated that Protein levels of vGLUT2 were significantly increased in schizophrenia subjects compared to controls., [RefSeq, PubMed]; Vglut2 and oligodendrocyte progenitor cells co-localize in multiple sclerosis lesions, supporting evidence that neuronal activity and release of glutamate instruct OPCs to differentiate into new myelinating oligodendrocytes that recover lost function. Publication Status: Online-Only, [RefSeq, PubMed]",
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"reported_snv": 28,
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "A6NKS2",
"ec_number_list": [
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
"id": "1.8.5.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1",
"type": "external"
},
{
"id": "1.11.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
"type": "external"
},
{
"id": "5.6.1.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6",
"type": "external"
}
],
"go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015386 potassium:proton antiporter activity;GO:0005254 chloride channel activity;GO:0005313 L-glutamate transmembrane transporter activity;GO:0005436 sodium:phosphate symporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection;GO:0030672 synaptic vesicle membrane;GO:0034707 chloride channel complex;GO:0060076 excitatory synapse",
"go_biological_process": "GO:1990384 hyaloid vascular plexus regression;GO:0050803 regulation of synapse structure or activity;GO:0035249 synaptic transmission, glutamatergic;GO:0055062 phosphate ion homeostasis;GO:0006817 phosphate ion transport",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "UR2R_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKP6",
"type": "external"
}
],
"mass": 42130.0,
"length": 389,
"protein_name": "Urotensin-2 receptor",
"gene_name": "UTS2R",
"organism": "Human",
"refseq_name": "urotensin-2 receptor",
"refseq_ac": [
{
"id": "NP_061822",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061822",
"type": "external"
}
],
"gene_names_uniprotkb": "UTS2R; GPR14",
"gene_names_refseq": "GPR14; UR-2-R; UTR2; UTR; UTS2R",
"protein_names_uniprotkb": "Urotensin-2 receptor; G protein-coupled receptor 14; UR-2-R; UR-II-R; Urotensin II receptor",
"protein_names_refseq": "G-protein coupled receptor 14; UR-II-R; urotensin II receptor; urotensin-2 receptor",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); hypertension (Disease Ontology:DOID:10763); endomyocardial fibrosis (Disease Ontology:DOID:12932); acute kidney failure (Disease Ontology:DOID:3021); myocardial infarction (Disease Ontology:DOID:5844)",
"pathway": " (hsa:2837); (R-HSA-375276); (R-HSA-416476)",
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"publication_count": 128,
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"function": "G protein-coupled receptor for the vasoactive neuropeptides urotensin-2 and urotensin-2B (PubMed:14550283). Upon ligand binding, activates intracellular signaling cascades via G protein coupling, primarily through Gq/11, leading to phospholipase C activation, increased intracellular calcium, and activation of protein kinase C (PKC) (PubMed:18314227). Through coupling to G(i)/G(o) alpha subunits, stimulates MAPK/ERK pathways and thereby contributes to regulation of vascular tone, cardiac contractility, and cell proliferation (PubMed:12503613, PubMed:14753294). Ligand binding also triggers a marked reduction in the biogenesis of autophagosomes by inhibiting the recruitment of ATG16L1 to pre-autophagosomal endocytic vesicles (PubMed:27715446)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Ligand-induced activation of the chemokine receptor CXCR4 and the urotensin 2 receptor UTS2R, triggers a marked reduction in the biogenesis of autophagosomes., [RefSeq, PubMed]; Lipidated peptides derived from intracellular loops 2 and 3 of the urotensin II receptor act as biased allosteric ligands., [RefSeq, PubMed]; Novel Mutations in UTS2R are Associated with Adolescent Idiopathic Scoliosis in the Chinese Population., [RefSeq, PubMed]; Urotensin II receptor expression in patients with ulcerative colitis: a pilot study., [RefSeq, PubMed]",
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},
{
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{
"id": "NP_001139811",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139811",
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}
],
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"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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},
{
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{
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{
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],
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},
{
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{
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],
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"protein_name": "Immunoglobulin iota chain",
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{
"id": "NP_009059",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009059",
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}
],
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"protein_names_refseq": "CD179 antigen-like family member A; immunoglobulin iota chain isoform 1 precursor; immunoglobulin iota chain; pre-B lymphocyte 1; v(pre)B protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7441); (R-HSA-202733)",
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"class_list": "",
"function": "Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation., [UniProtKB]; Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Irrespective of subtype, Acute Lymphoblastic Leukemia with high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B stage and correlate with good prognosis in high-risk pediatric B-cell precursor acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia., [RefSeq, PubMed]; The 5' region of the VpreB gene contains a promoter which displays higher relative activity in preB cells compared with cells at other stages or from other lineages., [RefSeq, PubMed]; The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; VPREB1 focal deletions are common in B-ALL and occur independent of V(D)J light chain recombination. Focal deletions of VPREB1 correlate with decreased expression levels and high-risk patients with focal deletions tend to have poorer overall survival, [RefSeq, PubMed]",
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},
{
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{
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],
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"protein_name": "Wee1-like protein kinase 2",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099028",
"type": "external"
}
],
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"protein_names_uniprotkb": "Wee1-like protein kinase 2; 2.7.10.2; Wee1-like protein kinase 1B; Wee1B kinase",
"protein_names_refseq": "WEE1 homolog 2; wee1-like protein kinase 1B; wee1-like protein kinase 2; wee1B kinase",
"tax_id": 9606,
"disease": "oocyte maturation defect 5 (MONDO:MONDO:0020837)",
"pathway": " (hsa:494551)",
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"function": "Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure., [RefSeq, PubMed]; Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization., [RefSeq, PubMed]; Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure., [RefSeq, PubMed]; Novel compound heterozygous mutations c.598C>T (p.Arg200Ter) and c.1319G>C (p.Trp440Ser) in WEE2 gene in a female whose oocytes could not form pronucleus after intracytoplasmic sperm injection. Mutations in WEE2 gene affect the normal function of WEE2 proteins and cause fertilization failure., [RefSeq, PubMed]; Novel variants found in WEE2, which is autosomal-recessive inherited, may be related to recurrent pronucleus formation failure and female infertility. Erratum:[Fertil Steril. 2019 May;111(5):1032. doi: 10.1016/j.fertnstert.2019.03.029. PMID: 31029236], [RefSeq, PubMed]; Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1/CDC2 and acts as a key regulator of meiosis during both prophase I and metaphase II (PubMed:29606300). Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at 'Tyr-15', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at 'Tyr-15', to ensure exit from meiosis in oocytes and promote pronuclear formation (By similarity)., [UniProtKB, PubMed, UniProtKB]",
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{
"id": "2.7.12.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2",
"type": "external"
},
{
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},
{
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},
{
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{
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{
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{
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},
{
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{
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{
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{
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],
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"go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007143 female meiotic nuclear division;GO:0042327 positive regulation of phosphorylation;GO:1900194 negative regulation of oocyte maturation;GO:0035038 female pronucleus assembly",
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{
"id": "XRP2_HUMAN",
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"type": "external"
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],
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"protein_name": "Protein XRP2",
"gene_name": "RP2",
"organism": "Human",
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{
"id": "NP_008846",
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],
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"protein_names_uniprotkb": "Protein XRP2",
"protein_names_refseq": "RP2, ARL3 GTPase activating protein; protein XRP2; retinitis pigmentosa 2 (X-linked recessive)",
"tax_id": 9606,
"disease": "retinitis pigmentosa 2 (Disease Ontology:DOID:0110415); retinitis pigmentosa (Disease Ontology:DOID:10584)",
"pathway": " (hsa:6102); (R-HSA-5624138)",
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"function": "A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as a guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations., [RefSeq, PubMed]; Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. Publication Status: Online-Only, [RefSeq, PubMed]; RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers., [RefSeq, PubMed]; RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association., [RefSeq, PubMed]; The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0070062 extracellular exosome",
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"organism": "Human",
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{
"id": "NP_004657",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004657",
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"gene_names_refseq": "HDLCQ8; Tiff66; VNN1",
"protein_names_uniprotkb": "Pantetheinase; 3.5.1.92; Pantetheine hydrolase; Tiff66; Vanin-1; Vascular non-inflammatory molecule 1",
"protein_names_refseq": "pantetheinase precursor; pantetheinase; pantetheine hydrolase; vannin 1; vascular non-inflammatory molecule 1",
"tax_id": 9606,
"disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)",
"pathway": " (hsa:8876); (R-HSA-163125); (R-HSA-199220); (R-HSA-6798695)",
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"function": "Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine., [UniProtKB, PubMed, PubMed, PubMed]; Near-Infrared Fluorescent Probe for Imaging and Evaluating the Role of Vanin-1 in Chemotherapy., [RefSeq, PubMed]; Pancreatic ductal deletion of S100A9 alleviates acute pancreatitis by targeting VNN1-mediated ROS release to inhibit NLRP3 activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]., [RefSeq]; This review discusses the role of vanin 1 in the liver, kidney, intestine, and lung under physiological as well as pathophysiological conditions. [review] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Urinary vanin-1 as a novel biomarker for survival in peripheral artery disease., [RefSeq, PubMed]; Urinary vanin-1 for predicting acute pyelonephritis in young children with urinary tract infection: a pilot study., [RefSeq, PubMed]",
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"protein_names_refseq": "proto-oncogene Int-1 homolog; proto-oncogene Wnt-1 precursor; wingless-type MMTV integration site family member 1; wingless-type MMTV integration site family, member 1 (oncogene INT1)",
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"disease": "osteogenesis imperfecta type 15 (Disease Ontology:DOID:0110347); osteoporosis (Disease Ontology:DOID:11476); breast cancer (Disease Ontology:DOID:1612); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:7471); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-381340); (R-HSA-4086400); (R-HSA-4641262)",
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"function": "Association of Membranous WNT-1 and Nuclear mTOR with Endometrial Cancer Grade. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases. Erratum:[Mol Biol Rep. 2024 Nov 4;51(1):1117. doi: 10.1007/s11033-024-10023-8. PMID: 39495367] Publication Status: Online-Only, [RefSeq, PubMed]; Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis., [RefSeq, PubMed]; KLF3 Transcription Activates WNT1 and Promotes the Growth and Metastasis of Gastric Cancer via Activation of the WNT/beta-Catenin Signaling Pathway., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720, PubMed:28528193). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]., [RefSeq]; Wnt/beta-catenin signaling and its modulators in nonalcoholic fatty liver diseases. Review article, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005109 frizzled binding;GO:0019904 protein domain specific binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0016015 morphogen activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen",
"go_biological_process": "GO:0000578 embryonic axis specification;GO:0021551 central nervous system morphogenesis;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process",
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"kg_view_protein": true
},
{
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{
"id": "XDH_HUMAN",
"url": "https://www.uniprot.org/uniprot/P47989",
"type": "external"
}
],
"mass": 146424.0,
"length": 1333,
"protein_name": "Xanthine dehydrogenase/oxidase",
"gene_name": "XDH",
"organism": "Human",
"refseq_name": "xanthine dehydrogenase/oxidase isoform 1",
"refseq_ac": [
{
"id": "NP_000370",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000370",
"type": "external"
}
],
"gene_names_uniprotkb": "XDH; XDHA",
"gene_names_refseq": "XAN1; XDH/XO; XDH; XOR; XO",
"protein_names_uniprotkb": "Xanthine dehydrogenase/oxidase; XOR; Xanthine oxidoreductase",
"protein_names_refseq": "xanthine dehydrogenase/oxidase isoform 1; xanthine dehydrogenase/oxidase; xanthine oxidoreductase",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); renal fibrosis (Disease Ontology:DOID:0050855); xanthinuria (Disease Ontology:DOID:0060236); xanthinuria type I (Disease Ontology:DOID:0070452); muscular disease (Disease Ontology:DOID:0080000); interstitial nephritis (Disease Ontology:DOID:1063); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); cardiovascular system disease (Disease Ontology:DOID:1287); cholestasis (Disease Ontology:DOID:13580); Lesch-Nyhan syndrome (Disease Ontology:DOID:1919); hyperuricemia (Disease Ontology:DOID:1920); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); acute kidney failure (Disease Ontology:DOID:3021); carotid artery disease (Disease Ontology:DOID:3407); pancreatitis (Disease Ontology:DOID:4989); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); peritonitis (Disease Ontology:DOID:8283); cataract (Disease Ontology:DOID:83); multiple myeloma (Disease Ontology:DOID:9538); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:7498); (R-HSA-74259); (R-HSA-8851680); (R-HSA-9748787)",
"pathway_count": 4,
"publication_count": 96,
"publication_id_list": "10075721;10364222;10681516;10766785;10840050;10844591;11083867;11133996;11278832;11379872;11690631;12435799;12502743;12697733;12750059;12947102;14551354;15747503;15850391;1637327;16530731;16717136;16751379;16959974;17081983;17234634;17301077;17405878;17785817;17996297;18780401;19413330;19470646;19531472;197968;20081199;20208008;20216118;20944003;2104852;211390;2129526;2157703;21723252;22444596;23096567;23203137;2344353;23816837;24036152;24260472;24703779;24824603;24974183;25108359;25576301;25637025;25657647;26238318;2848805;29242379;29482072;29557506;29786170;29789417;3029074;3036115;30779550;30987408;31154438;32350084;32488085;32938616;33592498;33968037;34185709;34356852;35051231;35318648;35580925;36739755;37258622;37415141;37713777;5767308;657528;6771276;6989049;8135849;8224915;8226881;8670112;9099726;9132023;9153281;942489",
"class_list": "",
"function": "Findings show that mutation of two amino acid residues in the active site of XOR for purine substrates results in conversion of the substrate preference to aldehyde oxidase type GeneRIF: Xanthine dehydrogenase/oxidase is a moonlighting protein that has two distinct catalytic activities as a dehydrogenase and an oxidase., [RefSeq, PubMed]; Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro)., [UniProtKB, PubMed]; Natural mutations of human XDH promote the nitrite (NO2[-])-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health? Erratum:[Redox Biol. 2023 Nov;67:102925. doi: 10.1016/j.redox.2023.102925. PMID: 37867029], [RefSeq, PubMed]; Overnight changes in uric acid, xanthine oxidoreductase and oxidative stress levels and their relationships with sleep-disordered breathing in patients with coronary artery disease., [RefSeq, PubMed]; The clinical value of serum xanthine oxidase levels in patients with acute ischemic stroke., [RefSeq, PubMed]; Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]., [RefSeq]; Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q16681;Q16712;Q4PJ16",
"ec_number_list": [
{
"id": "1.17.1.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.17.1.4",
"type": "external"
},
{
"id": "1.17.3.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.17.3.2",
"type": "external"
}
],
"go_molecular_function": "GO:0005506 iron ion binding;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0051537 2 iron, 2 sulfur cluster binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005777 peroxisome;GO:0005829 cytosol;GO:0016529 sarcoplasmic reticulum",
"go_biological_process": "GO:0006154 adenosine catabolic process;GO:0006157 deoxyadenosine catabolic process;GO:0006196 AMP catabolic process;GO:0009115 xanthine catabolic process;GO:0006147 guanine catabolic process",
"synthesized_glycan_count": 0,
"hit_score": 9.7,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P47992-1",
"uniprot_id": [
{
"id": "XCL1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P47992",
"type": "external"
}
],
"mass": 12517.0,
"length": 114,
"protein_name": "Lymphotactin",
"gene_name": "XCL1",
"organism": "Human",
"refseq_name": "lymphotactin precursor",
"refseq_ac": [
{
"id": "NP_002986",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002986",
"type": "external"
}
],
"gene_names_uniprotkb": "XCL1; LTN; SCYC1",
"gene_names_refseq": "ATAC; LPTN; LTN; SCM-1a; SCM-1; SCM1A; SCM1; SCYC1; XCL1",
"protein_names_uniprotkb": "Lymphotactin; ATAC; C motif chemokine 1; Cytokine SCM-1; Lymphotaxin; SCM-1-alpha; Small-inducible cytokine C1; XC chemokine ligand 1",
"protein_names_refseq": "SCM-1-alpha; XC chemokine ligand 1; c motif chemokine 1; chemokine (C motif) ligand 1; cytokine SCM-1; lymphotactin precursor; lymphotactin; lymphotaxin; single cysteine motif 1a; small inducible cytokine subfamily C, member 1 (lymphotactin); small-inducible cytokine C1",
"tax_id": 9606,
"disease": "anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780)",
"pathway": " (hsa:6375); (R-HSA-380108); (R-HSA-416476)",
"pathway_count": 3,
"publication_count": 81,
"publication_id_list": "10191087;10229797;10567430;10640743;10706668;10725696;10725697;10727532;10781587;10861009;11015615;11060282;11601972;11742120;11753430;12120503;12149255;12554737;12884299;12949249;15067078;15951850;16107333;16182515;16268778;16339447;16754659;16923326;1744577;1840701;18434541;18515384;18577758;1891716;18936096;1905813;20002784;2078213;2217207;23271734;2423119;25418920;25502872;27846572;2841328;29393594;29632046;2970963;3086311;3098319;32350084;3260265;34078123;34357683;34518457;36572194;37233895;7602097;7615002;7622448;7642634;7679328;7851893;7875320;7937899;8048929;8383238;8639485;8664309;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9305846;9390561;9463416;9618518;9770463",
"class_list": "",
"function": "Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment., [UniProtKB, UniProtKB]; Thermodynamic Evolution of a Metamorphic Protein: A Theoretical-Computational Study of Human Lymphotactin., [RefSeq, PubMed]; This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]., [RefSeq]; XCL1 Aggravates Diabetic Nephropathy-Mediated Renal Glomerular Endothelial Cell Apoptosis and Inflammatory Response via Regulating p53/Nuclear Factor-Kappa B Pathway., [RefSeq, PubMed]; XCL1 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; XCL1, a serum biomarker in neurological diseases; HTLV-1-associated myelopathy and multiple sclerosis., [RefSeq, PubMed]",
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"secondary_ac_list": "Q52MA8",
"ec_number_list": [],
"go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008009 chemokine activity;GO:0042379 chemokine receptor binding;GO:0048020 CCR chemokine receptor binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
"go_biological_process": "GO:0002725 negative regulation of T cell cytokine production;GO:0032703 negative regulation of interleukin-2 production;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling",
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"hit_score": 8.4,
"record_id": "P47992-1",
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},
{
"uniprot_canonical_ac": "P49765-1",
"uniprot_id": [
{
"id": "VEGFB_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49765",
"type": "external"
}
],
"mass": 21602.0,
"length": 207,
"protein_name": "Vascular endothelial growth factor B",
"gene_name": "VEGFB",
"organism": "Human",
"refseq_name": "vascular endothelial growth factor B isoform VEGFB-167 precursor",
"refseq_ac": [
{
"id": "NP_001230662",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230662",
"type": "external"
}
],
"gene_names_uniprotkb": "VEGFB; VRF",
"gene_names_refseq": "VEGFB; VEGFL; VRF",
"protein_names_uniprotkb": "Vascular endothelial growth factor B; VEGF-B; VEGF-related factor; VRF",
"protein_names_refseq": "VEGF-related factor; vascular endothelial growth factor B isoform VEGFB-167 precursor",
"tax_id": 9606,
"disease": "retinal vein occlusion (Disease Ontology:DOID:1727); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432)",
"pathway": " (hsa:7423); (R-HSA-114608); (R-HSA-194313); (R-HSA-195399)",
"pathway_count": 4,
"publication_count": 35,
"publication_id_list": "11004490;11237011;11387210;11532940;12871269;12881528;1417831;1435334;14630798;15297306;16616187;16633338;16835467;23640497;2479986;30459171;32350084;33968037;35051231;35251023;35399943;37591843;38536659;38775031;6457647;7824266;8467233;8617204;8637916;8700872;8702615;8919691;9207067;9435229;9722576",
"class_list": "",
"function": "Chondroitin polymerizing factor promotes development and progression of colorectal cancer via facilitating transcription of VEGFB., [RefSeq, PubMed]; Growth factor for endothelial cells. VEGF-B167 binds heparin and neuropilin-1 whereas the binding to neuropilin-1 of VEGF-B186 is regulated by proteolysis., [UniProtKB]; Increased Serum VEGF-B Level Is Associated With Renal Function Impairment in Patients With Type 2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Sorcin promotes proliferation of hepatocellular carcinoma by regulating VEGFA/B via PI3K pathway., [RefSeq, PubMed]; This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]., [RefSeq]; VEGF-B prevents excessive angiogenesis by inhibiting FGF2/FGFR1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q16528",
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"go_molecular_function": "GO:0043183 vascular endothelial growth factor receptor 1 binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0008083 growth factor activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031093 platelet alpha granule lumen",
"go_biological_process": "GO:0035470 positive regulation of vascular wound healing;GO:0008284 positive regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0043066 negative regulation of apoptotic process;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction",
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},
{
"uniprot_canonical_ac": "P58304-1",
"uniprot_id": [
{
"id": "VSX2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P58304",
"type": "external"
}
],
"mass": 39411.0,
"length": 361,
"protein_name": "Visual system homeobox 2",
"gene_name": "VSX2",
"organism": "Human",
"refseq_name": "visual system homeobox 2",
"refseq_ac": [
{
"id": "NP_878314",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_878314",
"type": "external"
}
],
"gene_names_uniprotkb": "VSX2; CHX10; HOX10",
"gene_names_refseq": "CHX10; HOX10; MCOP2; MCOPCB3; RET1; VSX2",
"protein_names_uniprotkb": "Visual system homeobox 2; Ceh-10 homeodomain-containing homolog; Homeobox protein CHX10",
"protein_names_refseq": "ceh-10 homeo domain containing homolog; ceh-10 homeodomain-containing homolog; homeobox protein CHX10; visual system homeobox 2",
"tax_id": 9606,
"disease": "isolated microphthalmia 2 (Disease Ontology:DOID:0060839); blindness (Disease Ontology:DOID:1432); microphthalmia, isolated, with coloboma 3 (MONDO:MONDO:0012408)",
"pathway": " (hsa:338917)",
"pathway_count": 1,
"publication_count": 14,
"publication_id_list": "10932181;15257456;16236706;17919464;21976963;24033328;27301076;27477290;30524438;31666091;35051231;35831950;36264558;38994775",
"class_list": "",
"function": "Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters (PubMed:27301076). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). May play a role in specification of V2a interneurons during spinal cord development (By similarity). Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1 (PubMed:17919464, PubMed:27477290). Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1 (By similarity). Acts as a negative transcriptional regulator of MITF (By similarity). Represses SAG transcription by competitive inhibition of ISL1-LHX3 response elements (PubMed:16236706, PubMed:27477290). Binds to the photoreceptor conserved element-1 (PCE-1) in the promoter of rod photoreceptor arrestin SAG and acts as a transcriptional repressor (By similarity). Involved in the development of retinal ganglion cells (RGCs) which leads to release of SHH by RGCs, promoting Hedgehog signaling and subsequent proliferation of retinal progenitor cells (By similarity). Participates in the development of the cells of the inner nuclear layer, by promoting postnatal differentiation of bipolar cells with a comparable inhibition of rod cell differentiation (By similarity). May play a role in the maintenance of neural retina identity during development by regulation of canonical Wnt genes and CTNNB1 localization, suggesting a role in the regulation of canonical Wnt signaling (PubMed:27301076)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells., [RefSeq, PubMed]; Evolutionary conservation of VSX2 super-enhancer modules in retinal development., [RefSeq, PubMed]; Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis., [RefSeq, PubMed]; These findings expand the clinical and molecular spectrum of RET variants in Hirschsprung disease and reveal a high frequency of RET DNVs in the Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]., [RefSeq]",
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"secondary_ac_list": "A1A4X6",
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"go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007601 visual perception",
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"record_id": "P58304-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P63121-1",
"uniprot_id": [
{
"id": "VP113_HUMAN",
"url": "https://www.uniprot.org/uniprot/P63121",
"type": "external"
}
],
"mass": 17091.0,
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"protein_name": "Endogenous retrovirus group K member 113 Pro protein",
"gene_name": "HERVK_113",
"organism": "Human",
"refseq_name": "",
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"gene_names_uniprotkb": "HERVK_113",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Endogenous retrovirus group K member 113 Pro protein; 3.4.23.50; HERV-K113 envelope protein; HERV-K_19p13.11 provirus ancestral Pro protein; PR; Protease; Proteinase",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "",
"pathway": "",
"pathway_count": 0,
"publication_count": 1,
"publication_id_list": "11591322",
"class_list": "",
"function": "Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution., [UniProtKB]",
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},
{
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{
"id": "WFDC2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14508",
"type": "external"
}
],
"mass": 12993.0,
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"protein_name": "WAP four-disulfide core domain protein 2",
"gene_name": "WFDC2",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 2 precursor",
"refseq_ac": [
{
"id": "NP_006094",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006094",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC2; HE4; WAP5",
"gene_names_refseq": "BENP; EDDM4; HE4; WAP5; WFDC2; dJ461P17.6",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 2; Epididymal secretory protein E4; Major epididymis-specific protein E4; Putative protease inhibitor WAP5",
"protein_names_refseq": "WAP domain containing protein HE4-V4; WAP four-disulfide core domain protein 2 precursor; WAP four-disulfide core domain protein 2; epididymal protein 4; epididymal secretory protein E4; epididymis secretory sperm binding protein; epididymis-specific, whey-acidic protein type, four-disulfide core; human epididymis protein 4; major epididymis-specific protein E4; putative protease inhibitor WAP5",
"tax_id": 9606,
"disease": "bronchiectasis and nasal polyposis (MONDO:MONDO:0975835)",
"pathway": " (hsa:10406); (R-HSA-9830364)",
"pathway_count": 2,
"publication_count": 25,
"publication_id_list": "11965550;12839961;15781627;16740002;1686187;19732003;21633297;21683503;23090970;23139753;24190977;25502872;26791533;27446579;29557506;29741879;30237853;32347972;35051231;37074911;38285795;38598900;38615275;38626355;38827327",
"class_list": "",
"function": "Human Epididymis Protein 4 (HE4) and Cancer Antigen 125 (CA125) for Prediction of Optimal Primary Surgery in Non-Mucinous Epithelial Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human epididymis protein 4: Analysis of national health and nutrition examination survey data., [RefSeq, PubMed]; Knockdown of HE4 suppresses tumor growth and invasiveness in lung adenocarcinoma through regulation of EGFR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a critical role in lung development (By similarity). Required for terminal differentiation of bronchiole club cells (By similarity). Required for development of airway barrier mechanisms, such as lamellar body formation in type II alveolar epithelial cells and cilia formation on ciliated epithelial cells following initiation of respiration at birth (By similarity). Required for type I alveolar epithelial cell and vascular endothelial development in the lungs, thereby mediating blood-air barrier exchange (By similarity)., [UniProtKB, UniProtKB]; Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis., [RefSeq, PubMed]; Relationship between human epididymal protein 4 and depth of tumor invasion, postoperative recurrence, and metastasis of epithelial epithelial ovarian cancer., [RefSeq, PubMed]; This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"biomarker_type": "prognostic; diagnostic",
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"secondary_ac_list": "A2A2A5;A2A2A6;A6PVD5;Q6IB27;Q8WXV9;Q8WXW0;Q8WXW1;Q8WXW2;Q96KJ1",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity;GO:0019828 aspartic-type endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome",
"go_biological_process": "GO:1901248 positive regulation of lung ciliated cell differentiation;GO:0006508 proteolysis;GO:0007283 spermatogenesis;GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
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"hit_score": 11.7,
"record_id": "Q14508-1",
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"filter_code": "1001000.1000111.100000.000000000001000000.1100000000000.100.00000",
"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "WSCD2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q2TBF2",
"type": "external"
}
],
"mass": 63817.0,
"length": 565,
"protein_name": "Sialate:O-sulfotransferase 2",
"gene_name": "WSCD2",
"organism": "Human",
"refseq_name": "sialate:O-sulfotransferase 2",
"refseq_ac": [
{
"id": "NP_001291376",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291376",
"type": "external"
}
],
"gene_names_uniprotkb": "WSCD2; KIAA0789",
"gene_names_refseq": "WSCD2",
"protein_names_uniprotkb": "Sialate:O-sulfotransferase 2; WSC domain-containing protein 2",
"protein_names_refseq": "WSC domain containing 2; WSC domain-containing protein 2; sialate:O-sulfotransferase 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9671)",
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"publication_id_list": "11237011;18003638;27918536;31611695;32350084;34509645;35051231",
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"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sialate:O-sulfotransferase which catalyzes 8-O-sulfation at the Sia-glycan level using 3'-phosphoadenosine 5'-phosphosulfate (PAPS) as a donor, forming 8-O-sulfated Sia (Sia8S)-glycans. Displays selectivity toward glycoproteins such as TF/transferrin., [UniProtKB, UniProtKB]; WSCD2 polymorphism is associated with extraversion., [RefSeq, PubMed]",
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"secondary_ac_list": "B2RN48;B4DES1;Q8IY35;Q9Y4B7",
"ec_number_list": [],
"go_molecular_function": "GO:0008146 sulfotransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane",
"go_biological_process": "",
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"record_id": "Q2TBF2-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q3ZAQ7-1",
"uniprot_id": [
{
"id": "VMA21_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q3ZAQ7",
"type": "external"
}
],
"mass": 11354.0,
"length": 101,
"protein_name": "Vacuolar ATPase assembly integral membrane protein VMA21",
"gene_name": "VMA21",
"organism": "Human",
"refseq_name": "vacuolar ATPase assembly integral membrane protein VMA21 isoform 1",
"refseq_ac": [
{
"id": "NP_001017980",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017980",
"type": "external"
}
],
"gene_names_uniprotkb": "VMA21; MEAX; XMEA",
"gene_names_refseq": "MEAX; VMA21; XMEA",
"protein_names_uniprotkb": "Vacuolar ATPase assembly integral membrane protein VMA21; Myopathy with excessive autophagy protein",
"protein_names_refseq": "VMA21 vacuolar H+-ATPase homolog; VMA21, vacuolar ATPase assembly factor; myopathy with excessive autophagy protein; vacuolar ATPase assembly integral membrane protein VMA21 isoform 1; vacuolar ATPase assembly integral membrane protein VMA21",
"tax_id": 9606,
"disease": "X-linked myopathy with excessive autophagy (Disease Ontology:DOID:0050760); follicular lymphoma (Disease Ontology:DOID:0050873)",
"pathway": " (hsa:203547)",
"pathway_count": 1,
"publication_count": 30,
"publication_id_list": "19379691;23315026;24488655;25683699;25892735;26154972;26992070;28218747;29127204;29437277;29493099;29557506;29769354;30315122;30410026;31844290;32357974;32535249;33633747;33912179;33936100;34350833;34357683;34507559;34561969;35287545;35561310;35580925;36010968;37756622",
"class_list": "",
"function": "Circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis., [RefSeq, PubMed]; Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families., [RefSeq, PubMed]; Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency., [RefSeq, PubMed]; Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis. Erratum:[J Transl Med. 2021 Nov 25;19(1):476. doi: 10.1186/s12967-021-03140-6. PMID: 34823542] Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis., [RefSeq, PubMed]; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum., [UniProtKB, HAMAP]; This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]., [RefSeq]",
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"secondary_ac_list": "A6NKV7;B3KUA9",
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"go_cellular_component": "GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane;GO:0012507 ER to Golgi transport vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane",
"go_biological_process": "GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly;GO:0007042 lysosomal lumen acidification",
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"hit_score": 3.1,
"record_id": "Q3ZAQ7-1",
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},
{
"uniprot_canonical_ac": "Q709C8-1",
"uniprot_id": [
{
"id": "VP13C_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q709C8",
"type": "external"
}
],
"mass": 422390.0,
"length": 3753,
"protein_name": "Intermembrane lipid transfer protein VPS13C",
"gene_name": "VPS13C",
"organism": "Human",
"refseq_name": "intermembrane lipid transfer protein VPS13C isoform 2B",
"refseq_ac": [
{
"id": "NP_001018098",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018098",
"type": "external"
}
],
"gene_names_uniprotkb": "VPS13C; KIAA1421",
"gene_names_refseq": "BLTP5C; PARK23; VPS13C",
"protein_names_uniprotkb": "Intermembrane lipid transfer protein VPS13C; Vacuolar protein sorting-associated protein 13C",
"protein_names_refseq": "bridge-like lipid transfer protein family member 5C; intermembrane lipid transfer protein VPS13C isoform 2B; intermembrane lipid transfer protein VPS13C; vacuolar protein sorting-associated protein 13C",
"tax_id": 9606,
"disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); choreaacanthocytosis (Disease Ontology:DOID:0050766); Parkinson's disease 23 (Disease Ontology:DOID:0060896); Cohen syndrome (Disease Ontology:DOID:0111590); autosomal recessive spinocerebellar ataxia 4 (Disease Ontology:DOID:0111611); Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:54832)",
"pathway_count": 1,
"publication_count": 130,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;15498460;17081983;18452278;19413330;19608861;19690332;20058876;20068231;20081857;20166139;22424782;23186163;23481700;24129315;24275569;24366607;24714562;24715725;25418920;25502872;25505266;25576301;25645385;25787250;25880248;25892735;26154972;26375851;26768311;26811146;26942284;26992070;27397612;27452731;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30093493;30315122;30379171;30410026;30429286;30451992;30484775;30524438;30779550;30833945;31020640;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34875562;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35657605;35858323;36010968;36241641;36284347;37074911;37217939;37938771;38358348;39302247;39306342;41350704",
"class_list": "",
"function": "ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling., [RefSeq, PubMed]; In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts. Erratum:[Proc Natl Acad Sci U S A. 2023 Feb 7;120(6):e2300316120. doi: 10.1073/pnas.2300316120. PMID: 36735759], [RefSeq, PubMed]; Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential (PubMed:26942284). Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization (PubMed:26942284)., [UniProtKB, PubMed, UniProtKB]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; VPS13C and STING expression in neuropsychiatric systemic lupus erythematosus: unveiling an unbreached territory. Publication Status: Online-Only, [RefSeq, PubMed]; VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons., [RefSeq, PubMed]; VPS13C-associated Parkinson's disease: Two novel cases and review of the literature. Review article, [RefSeq, PubMed]",
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"secondary_ac_list": "Q6ISR4;Q702P2;Q702P3;Q709C9;Q9NXN8;Q9P2C6",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0045053 protein retention in Golgi apparatus;GO:0006869 lipid transport;GO:0007005 mitochondrion organization;GO:0006895 Golgi to endosome transport;GO:1905090 negative regulation of type 2 mitophagy",
"synthesized_glycan_count": 0,
"hit_score": 13.9,
"record_id": "Q709C8-1",
"record_type": "protein",
"filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z7D3-1",
"uniprot_id": [
{
"id": "VTCN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z7D3",
"type": "external"
}
],
"mass": 30878.0,
"length": 282,
"protein_name": "V-set domain-containing T-cell activation inhibitor 1",
"gene_name": "VTCN1",
"organism": "Human",
"refseq_name": "V-set domain-containing T-cell activation inhibitor 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001240778",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240778",
"type": "external"
}
],
"gene_names_uniprotkb": "VTCN1; B7H4; PRO1291",
"gene_names_refseq": "B7-H4; B7H4; B7S1; B7X; B7h.5; PRO1291; VCTN1; VTCN1",
"protein_names_uniprotkb": "V-set domain-containing T-cell activation inhibitor 1; B7 homolog 4; B7-H4; B7h.5; Immune costimulatory protein B7-H4; Protein B7S1; T-cell costimulatory molecule B7x",
"protein_names_refseq": "B7 family member, H4; B7 homolog 4; B7 superfamily member 1; T cell costimulatory molecule B7x; V-set domain-containing T-cell activation inhibitor 1 isoform 2; immune costimulatory protein B7-H4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79679)",
"pathway_count": 1,
"publication_count": 25,
"publication_id_list": "11237011;12818165;12818166;12920180;12975309;14568939;15878339;16606666;16782226;16785496;16798883;17509674;17875732;27893789;29741879;31844290;33633747;35580925;36284347;37028278;37066992;37074911;37481357;37803894;38850312",
"class_list": "",
"function": "Aberrant expression of B7-H4 and B7-H5 contributes to the development of cutaneous squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; An Investigation of the Effects of B7-H4 Gene rs10754339 and miR-125a Gene rs12976445 on Cancer Susceptibility., [RefSeq, PubMed]; Association of B7H3 and B7H4 gene polymorphisms and protein expression with the development and prognosis of autoimmune thyroid diseases., [RefSeq, PubMed]; B7x in cancer immunity and immunotherapy. Review article, [RefSeq, PubMed]; Diagnostic, clinicopathological features and prognostic value of B7x expression in Chinese women with breast cancer: A meta-analysis., [RefSeq, PubMed]; May participate in negative regulation of cell-mediated immunity in peripheral tissues, [RefSeq, PubMed]; Negative regulator of T cell activation. (B7S1), [RefSeq, PubMed]; Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 1,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_s_glycosites": 0,
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"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 1,
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"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
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"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 19,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 8,
"disease_count": 0,
"glyco_site_count": 2,
"binding_glycan_count": 0,
"secondary_ac_list": "Q0GN76;Q45VN0;Q5WPZ3;Q6P097;Q9H6B2",
"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding",
"go_cellular_component": "GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0042130 negative regulation of T cell proliferation;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0001817 regulation of cytokine production",
"synthesized_glycan_count": 0,
"hit_score": 3.5,
"record_id": "Q7Z7D3-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q86VZ2-1",
"uniprot_id": [
{
"id": "WDR5B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86VZ2",
"type": "external"
}
],
"mass": 36338.0,
"length": 330,
"protein_name": "WD repeat-containing protein 5B",
"gene_name": "WDR5B",
"organism": "Human",
"refseq_name": "WD repeat-containing protein 5B",
"refseq_ac": [
{
"id": "NP_061942",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061942",
"type": "external"
}
],
"gene_names_uniprotkb": "WDR5B",
"gene_names_refseq": "WDR5B",
"protein_names_uniprotkb": "WD repeat-containing protein 5B",
"protein_names_refseq": "WD repeat-containing protein 5B",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682)",
"pathway": " (hsa:54554)",
"pathway_count": 1,
"publication_count": 17,
"publication_id_list": "20058876;25645385;27600516;28832583;29242379;30429286;30524438;32357974;32387766;32502341;32938616;33298915;33592498;33968037;34087483;39056772;39894887",
"class_list": "",
"function": "Initial Characterization of WDR5B Reveals a Role in the Proliferation of Retinal Pigment Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the proliferation of retinal pigment epithelial (RPE) cells (PubMed:39056772). May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex (By similarity)., [UniProtKB, UniProtKB, PubMed]; This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
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"mined_c_glycosites": 0,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 1,
"glyco_site_count": 0,
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"secondary_ac_list": "B2RCM9;Q9NUL4",
"ec_number_list": [],
"go_molecular_function": "GO:0042393 histone binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0048188 Set1C/COMPASS complex",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 2.0,
"record_id": "Q86VZ2-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q86Y38-1",
"uniprot_id": [
{
"id": "XYLT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86Y38",
"type": "external"
}
],
"mass": 107569.0,
"length": 959,
"protein_name": "Xylosyltransferase 1",
"gene_name": "XYLT1",
"organism": "Human",
"refseq_name": "xylosyltransferase 1",
"refseq_ac": [
{
"id": "NP_071449",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_071449",
"type": "external"
}
],
"gene_names_uniprotkb": "XYLT1; XT1",
"gene_names_refseq": "DBQD2; PXYLT1; XT-I; XT1; XTI; XYLT1; XYLTI; xylT-I",
"protein_names_uniprotkb": "Xylosyltransferase 1; 2.4.2.26; Peptide O-xylosyltransferase 1; XT-I; XylT-I; Xylosyltransferase I",
"protein_names_refseq": "beta-D-xylosyltransferase 1; peptide O-xylosyltransferase 1; xylosyltransferase 1; xylosyltransferase I; xylosyltransferase iota",
"tax_id": 9606,
"disease": "Desbuquois dysplasia (Disease Ontology:DOID:0060462); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); kidney disease (Disease Ontology:DOID:557); type 1 diabetes mellitus (Disease Ontology:DOID:9744); XYLT1-congenital disorder of glycosylation (MONDO:MONDO:0018273)",
"pathway": " (hsa:64131); (R-HSA-1971475)",
"pathway_count": 2,
"publication_count": 62,
"publication_id_list": "10.1074/mcp.M114.046862;10473568;10506123;10842173;11087729;11099377;11551958;11814476;11877387;12522689;14993226;15294915;15461586;16571645;17189265;17194707;19473117;22810237;23656592;23982343;24425863;24581741;25521717;25645385;25813380;26992070;28218747;28228285;28462984;28467828;28832583;28834231;29242379;29314611;29437277;29557506;29632046;29632711;29681470;30459171;30554721;31844290;32157095;32265295;32350084;32357974;32488085;32920014;32938616;33298915;33609631;33662666;33936100;34185709;34357683;35051231;35561310;35580925;36010968;36871637;9506957;9892646",
"class_list": "glycogene;glycosyltransferase",
"function": "Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:23982343, PubMed:24581741). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:23982343, PubMed:24581741). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts., [RefSeq, PubMed]; DXD motifs in human xylosyltransferase I are required for enzyme activity, [RefSeq, PubMed]; Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide., [RefSeq, PubMed]; Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3., [RefSeq, PubMed]; SNAI1-activated long non-coding RNA LINC01711 promotes hepatic fibrosis cell proliferation and migration by regulating XYLT1., [RefSeq, PubMed]; This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]., [RefSeq]; Variations in the XYLT-II gene are genetic co-factors in the severity of PXE., [RefSeq, PubMed]",
"predicted_glycosites": 5,
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"predicted_o_glycosites": 3,
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"total_n_glycosites": 1,
"total_o_glycosites": 6,
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"reported_phosphosites": 0,
"reported_mutagensis": 36,
"reported_glycation": 0,
"reported_snv": 1369,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 2,
"disease_count": 5,
"glyco_site_count": 12,
"binding_glycan_count": 0,
"secondary_ac_list": "Q9H1B6",
"ec_number_list": [
{
"id": "2.4.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.26",
"type": "external"
}
],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0030158 protein xylosyltransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0000137 Golgi cis cisterna",
"go_biological_process": "GO:0043931 ossification involved in bone maturation;GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0030166 proteoglycan biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 7.2,
"record_id": "Q86Y38-1",
"record_type": "protein",
"filter_code": "0000000.1100111.010000.000000000001000000.1100000011000.101.11000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IUA0-1",
"uniprot_id": [
{
"id": "WFDC8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IUA0",
"type": "external"
}
],
"mass": 27824.0,
"length": 241,
"protein_name": "WAP four-disulfide core domain protein 8",
"gene_name": "WFDC8",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 8 precursor",
"refseq_ac": [
{
"id": "NP_570966",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_570966",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC8; C20orf170; WAP8",
"gene_names_refseq": "C20orf170; HEL-S-292; WAP8; WFDC8; dJ461P17.1",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 8; Putative protease inhibitor WAP8",
"protein_names_refseq": "WAP four-disulfide core domain protein 8 precursor; WAP four-disulfide core domain protein 8; WAP motif protein 1; epididymis secretory protein Li 292; epididymis secretory sperm binding protein; protease inhibitor WAP8; putative protease inhibitor WAP8; testicular secretory protein Li 68",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90199)",
"pathway_count": 1,
"publication_count": 3,
"publication_id_list": "12206714;21536719;37217939",
"class_list": "",
"function": "This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; We propose that the evolution of WFDC8 and SPINT4 has been shaped by complex selective scenarios due to the interdependence of variant fitness and ecological variables., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"predicted_s_glycosites": 0,
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"mined_n_glycosites": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
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"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "E1P623;Q5TDV2;Q96A34",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005576 extracellular region",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 0.6,
"record_id": "Q8IUA0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IUB3-1",
"uniprot_id": [
{
"id": "WF10B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IUB3",
"type": "external"
}
],
"mass": 8325.0,
"length": 73,
"protein_name": "Protein WFDC10B",
"gene_name": "WFDC10B",
"organism": "Human",
"refseq_name": "protein WFDC10B isoform a precursor",
"refseq_ac": [
{
"id": "NP_742003",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_742003",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC10B; WAP12",
"gene_names_refseq": "WAP12; WFDC10B",
"protein_names_uniprotkb": "Protein WFDC10B",
"protein_names_refseq": "protease inhibitor WAP12; protein WFDC10B isoform a precursor; protein WFDC10B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:280664)",
"pathway_count": 1,
"publication_count": 2,
"publication_id_list": "12206714;29557506",
"class_list": "",
"function": "This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_snv": 0,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A6PVD7;Q0VAG0;Q0VAG1;Q5TGZ5;Q8IUB4",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
"synthesized_glycan_count": 0,
"hit_score": 0.3,
"record_id": "Q8IUB3-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NEX6-1",
"uniprot_id": [
{
"id": "WFD11_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NEX6",
"type": "external"
}
],
"mass": 10340.0,
"length": 87,
"protein_name": "Protein WFDC11",
"gene_name": "WFDC11",
"organism": "Human",
"refseq_name": "protein WFDC11 precursor",
"refseq_ac": [
{
"id": "NP_671730",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_671730",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC11; WAP11",
"gene_names_refseq": "WAP11; WFDC11",
"protein_names_uniprotkb": "Protein WFDC11",
"protein_names_refseq": "protease inhibitor WAP11; protein WFDC11 precursor; protein WFDC11",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:259239)",
"pathway_count": 1,
"publication_count": 1,
"publication_id_list": "12206714",
"class_list": "",
"function": "This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 0,
"reported_glycation": 0,
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "E1P624;Q5TGZ6",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
"synthesized_glycan_count": 0,
"hit_score": 0.2,
"record_id": "Q8NEX6-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TCV5-1",
"uniprot_id": [
{
"id": "WFDC5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TCV5",
"type": "external"
}
],
"mass": 24238.0,
"length": 224,
"protein_name": "WAP four-disulfide core domain protein 5",
"gene_name": "WFDC5",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 5 precursor",
"refseq_ac": [
{
"id": "NP_663627",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_663627",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC5; PRG5; PRO9842; WAP1",
"gene_names_refseq": "PRG5; WAP1; WFDC5; dJ211D12.5",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 5; Putative protease inhibitor WAP1; p53-responsive gene 5 protein",
"protein_names_refseq": "WAP four-disulfide core domain protein 5 precursor; WAP four-disulfide core domain protein 5; p53-responsive gene 5 protein; protease inhibitor WAP1; putative protease inhibitor WAP1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:149708)",
"pathway_count": 1,
"publication_count": 6,
"publication_id_list": "10441517;12206714;12975309;16462094;17511965;32938616",
"class_list": "",
"function": "Analysis of promoter of mutated human whey acidic protein (WAP) gene, [RefSeq, PubMed]; C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in tumor cells, [RefSeq, PubMed]; Putative acid-stable proteinase inhibitor., [UniProtKB]; This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"predicted_o_glycosites": 0,
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"predicted_s_glycosites": 0,
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"reported_mutagensis": 0,
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"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q5H981;Q6UWE4",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
"synthesized_glycan_count": 0,
"hit_score": 0.7,
"record_id": "Q8TCV5-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TDU5-1",
"uniprot_id": [
{
"id": "VNRL4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TDU5",
"type": "external"
}
],
"mass": 23857.0,
"length": 208,
"protein_name": "Putative vomeronasal receptor-like protein 4",
"gene_name": "VN1R17P",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "VN1R17P; VNRL4",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Putative vomeronasal receptor-like protein 4; G protein-coupled receptor GPCR23; hGPCR23",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "",
"pathway": "",
"pathway_count": 0,
"publication_count": 3,
"publication_id_list": "12044878;24715725;33392160",
"class_list": "",
"function": "Putative pheromone receptor., [UniProtKB]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"missing_score": 10000,
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0005550 pheromone binding;GO:0016503 pheromone receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0019236 response to pheromone;GO:0007606 sensory perception of chemical stimulus",
"synthesized_glycan_count": 0,
"hit_score": 0.4,
"record_id": "Q8TDU5-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TF30-1",
"uniprot_id": [
{
"id": "WHAMM_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TF30",
"type": "external"
}
],
"mass": 90924.0,
"length": 809,
"protein_name": "WASP homolog-associated protein with actin, membranes and microtubules",
"gene_name": "WHAMM",
"organism": "Human",
"refseq_name": "WASP homolog-associated protein with actin, membranes and microtubules",
"refseq_ac": [
{
"id": "NP_001073904",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073904",
"type": "external"
}
],
"gene_names_uniprotkb": "WHAMM; KIAA1971; WHDC1",
"gene_names_refseq": "WHAMM1; WHAMM; WHDC1",
"protein_names_uniprotkb": "WASP homolog-associated protein with actin, membranes and microtubules; WAS protein homology region 2 domain-containing protein 1; WH2 domain-containing protein 1",
"protein_names_refseq": "WAS protein homolog associated with actin, golgi membranes and microtubules; WAS protein homology region 2 domain-containing protein 1; WASP homolog-associated protein with actin, membranes and microtubules; WH2 domain-containing protein 1",
"tax_id": 9606,
"disease": "Fanconi syndrome (Disease Ontology:DOID:1062)",
"pathway": " (hsa:123720); (R-HSA-9013405)",
"pathway_count": 2,
"publication_count": 44,
"publication_id_list": "11784792;12577064;17064668;17916560;18614018;18669648;22665057;23027905;23087206;23096567;24102721;24715725;25746724;26096974;26992070;27481945;27846572;27852748;27920218;28486133;28834231;28947137;29242379;29557506;29769354;29776664;31420534;31871319;32350084;32502341;32897882;33036756;33141586;33592498;33691108;33872315;33912179;33968037;34211107;35051231;35580925;37217939;38598293;8945468",
"class_list": "",
"function": "Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration., [UniProtKB, PubMed, PubMed, PubMed]; An actin-WHAMM interaction linking SETD2 and autophagy., [RefSeq, PubMed]; Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1., [RefSeq, PubMed]; Results give rise to a model whereby distinct MT-bound and actin-nucleating populations of WHAMM collaborate during membrane tubulation, [RefSeq, PubMed]; The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]., [RefSeq]; WHAMM directs the Arp2/3 complex to the endoplasmic reticulum for autophagosome biogenesis through an actin comet tail mechanism., [RefSeq, PubMed]; WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration., [RefSeq, PubMed]; WHAMM is required for autophagic lysosome reformation. WHAMM works as an actin nucleation promoting factor which promotes assembly of an actin scaffold on the surface of the autolysosome to promote autolysosome tabulation. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q8N1J9",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0031267 small GTPase binding;GO:0071933 Arp2/3 complex binding",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0030659 cytoplasmic vesicle membrane",
"go_biological_process": "GO:0007015 actin filament organization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0030032 lamellipodium assembly;GO:0048041 focal adhesion assembly;GO:0034314 Arp2/3 complex-mediated actin nucleation",
"synthesized_glycan_count": 0,
"hit_score": 4.7,
"record_id": "Q8TF30-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96AJ9-2",
"uniprot_id": [
{
"id": "VTI1A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96AJ9",
"type": "external"
}
],
"mass": 25218.0,
"length": 217,
"protein_name": "Vesicle transport through interaction with t-SNAREs homolog 1A",
"gene_name": "VTI1A",
"organism": "Human",
"refseq_name": "vesicle transport through interaction with t-SNAREs homolog 1A isoform a",
"refseq_ac": [
{
"id": "NP_001305132",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305132",
"type": "external"
}
],
"gene_names_uniprotkb": "VTI1A",
"gene_names_refseq": "MMDS3; MVti1; VTI1A; VTI1RP2; Vti1-rp2",
"protein_names_uniprotkb": "Vesicle transport through interaction with t-SNAREs homolog 1A; Vesicle transport v-SNARE protein Vti1-like 2; Vti1-rp2",
"protein_names_refseq": "SNARE Vti1a-beta protein; vesicle transport through interaction with t-SNAREs homolog 1A isoform a; vesicle transport through interaction with t-SNAREs homolog 1A; vesicle transport v-SNARE protein Vti1-like 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:143187); (R-HSA-6811438); (R-HSA-6811440)",
"pathway_count": 3,
"publication_count": 141,
"publication_id_list": "10.1101/2023.09.13.557529;10189370;10209123;10445031;10559959;10637310;10652308;10652516;10865125;10990452;11303027;11346801;11359012;11689439;11718716;11748249;11827983;11839770;12011112;12070132;12377769;12383348;12429822;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15654769;15718469;15728195;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17274799;17451557;17488291;17562788;17684057;17698061;18086915;18195106;18243103;18256213;18367545;18451304;18491316;18664496;18946081;19138172;19164740;19490898;19536132;19620288;19715559;20163571;20685960;20874812;21183348;21421921;21436057;21689688;21807881;21892161;22013193;22188167;22335553;22354037;22581368;22717455;23091056;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24794632;25343031;25708460;27920218;28228285;28320150;28467828;28649982;28832583;28834231;28904123;29242379;29393594;29975781;30315122;30573663;31844290;32157095;32350084;32387766;32938616;32983136;33298915;33912179;33968037;34087483;34357683;34561969;35154160;35251023;39408793;7909812;8221884;8440258;8620540;8636227;8670882;8945478;9050864;9177194;9230071;9244307;9476900;9510256;9590177;9653114;9707577;9915833",
"class_list": "",
"function": "Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57. Publication Status: Online-Only, [RefSeq, PubMed]; Our results indicate that genetic variants in VTI1A may modify individual susceptibility to non-GBM of glioma in the Han Chinese population and support the role of the VTI1A genes in the occurrence of glioma., [RefSeq, PubMed]; The present results suggest that a SNARE complex containing VAMP7 and Vti1a defines a novel traffic pathway to the cell surface in both neuronal and non-neuronal cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Transfection of LS174T cells showed that the VTI1A promoter is highly active compared to the TCF7L2 promoter, and that CDX2 activates transcription of VTI1A. Publication Status: Online-Only, [RefSeq, PubMed]; V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence., [UniProtKB, PubMed, PubMed]; We found a colorectal carcinoma cell line harboring the fusion gene to be dependent on VTI1A-TCF7L2 for anchorage-independent growth using RNA interference-mediated knockdown. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A2A307;B4E137;Q5W0D7",
"ec_number_list": [],
"go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane",
"go_biological_process": "GO:0050882 voluntary musculoskeletal movement;GO:0006886 intracellular protein transport;GO:0016236 macroautophagy;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006914 autophagy",
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"record_id": "Q96AJ9-2",
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"filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96DN2-1",
"uniprot_id": [
{
"id": "VWCE_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96DN2",
"type": "external"
}
],
"mass": 99915.0,
"length": 955,
"protein_name": "von Willebrand factor C and EGF domain-containing protein",
"gene_name": "VWCE",
"organism": "Human",
"refseq_name": "von Willebrand factor C and EGF domain-containing protein precursor",
"refseq_ac": [
{
"id": "NP_689931",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_689931",
"type": "external"
}
],
"gene_names_uniprotkb": "VWCE; URG11",
"gene_names_refseq": "URG11; VWC1; VWCE",
"protein_names_uniprotkb": "von Willebrand factor C and EGF domain-containing protein; HBV X protein up-regulated gene 11 protein; HBxAg up-regulated gene 11 protein",
"protein_names_refseq": "HBV X protein up-regulated gene 11 protein; HBxAg up-regulated gene 11 protein; von Willebrand factor C and EGF domain-containing protein precursor; von Willebrand factor C and EGF domain-containing protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:220001)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "10.1038/emboj.2013.79;16496348;19413886;19900406;23481700;23584533;29331515;29508533;29955600;30459171;30864678;32502341;33717175;34411563;35051231",
"class_list": "",
"function": "Beta-catenin is activated by HBxAg, in part, through the upregulated expression of the HBxAg effector URG11; URG11 stimulates the beta-catenin promoter and hepatocellular growth and survival, [RefSeq, PubMed]; Data suggest that URG11 contributes to gastric cancer growth and metastasis at least partially through activation of beta-catenin signalling pathway., [RefSeq, PubMed]; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma., [UniProtKB, PubMed]; URG11 is critical for the proliferation, migration, and invasion in prostate cancer cells Publication Status: Online-Only, [RefSeq, PubMed]; URG11 mediates hypoxia-induced epithelial-to-mesenchymal transition through the suppression of E-cadherin and the activation of the beta-catenin/T-cell factor pathway., [RefSeq, PubMed]; URG11 served an oncogenic role in the development of prostate cancer cells., [RefSeq, PubMed]",
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"predicted_n_glycosites": 2,
"predicted_o_glycosites": 3,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
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"reported_s_glycosites": 0,
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"reported_o_glycosites_with_glycan": 10,
"reported_c_glycosites_with_glycan": 0,
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"total_reported_n_glycosites": 0,
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"reported_fully_resolved_glycans": 2,
"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 28,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 4,
"disease_count": 0,
"glyco_site_count": 15,
"binding_glycan_count": 0,
"secondary_ac_list": "A5PKV0;Q7Z7L6;Q86WK8",
"ec_number_list": [],
"go_molecular_function": "GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0098586 cellular response to virus",
"synthesized_glycan_count": 0,
"hit_score": 3.0,
"record_id": "Q96DN2-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96IQ7-1",
"uniprot_id": [
{
"id": "VSIG2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96IQ7",
"type": "external"
}
],
"mass": 34348.0,
"length": 327,
"protein_name": "V-set and immunoglobulin domain-containing protein 2",
"gene_name": "VSIG2",
"organism": "Human",
"refseq_name": "V-set and immunoglobulin domain-containing protein 2 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001316849",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316849",
"type": "external"
}
],
"gene_names_uniprotkb": "VSIG2; CTH; CTXL; PRO7154",
"gene_names_refseq": "2210413P10Rik; CTH; CTXL; VSIG2",
"protein_names_uniprotkb": "V-set and immunoglobulin domain-containing protein 2; CT-like protein; Cortical thymocyte-like protein",
"protein_names_refseq": "CT-like protein; V-set and immunoglobulin domain-containing protein 2 isoform 2 precursor; V-set and immunoglobulin domain-containing protein 2; cortical thymocyte receptor (X. laevis CTX) like; cortical thymocyte-like protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23584)",
"pathway_count": 1,
"publication_count": 13,
"publication_id_list": "12975309;15340161;20659327;29242379;29557506;30779550;32502341;33141586;34087483;35494241;37626304;40596516;9862345",
"class_list": "",
"function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; VSIG2 promotes malignant progression of pancreatic ductal adenocarcinoma by enhancing LAMTOR2-mediated mTOR activation. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 3,
"predicted_n_glycosites": 2,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_mutagensis": 0,
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"reported_snv": 18,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "O95791;Q9NX42",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006629 lipid metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 1.6,
"record_id": "Q96IQ7-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9BXE9-1",
"uniprot_id": [
{
"id": "VN1R3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BXE9",
"type": "external"
}
],
"mass": 34713.0,
"length": 311,
"protein_name": "Vomeronasal type-1 receptor 3",
"gene_name": "VN1R3",
"organism": "Human",
"refseq_name": "vomeronasal type-1 receptor 3",
"refseq_ac": [
{
"id": "NP_778145",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_778145",
"type": "external"
}
],
"gene_names_uniprotkb": "VN1R3; FKSG46; V1RL3",
"gene_names_refseq": "FKSG46; V1RL3p; V1RL3; VN1R3",
"protein_names_uniprotkb": "Vomeronasal type-1 receptor 3; V1r-like receptor 3",
"protein_names_refseq": "V1R-like 3; V1RL3 pseudogene; V1r-like receptor 3; vomeronasal 1 receptor 3 pseudogene; vomeronasal 1 receptor 4 pseudogene; vomeronasal type-1 receptor 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:317702)",
"pathway_count": 1,
"publication_count": 3,
"publication_id_list": "12123587;12826614;24715725",
"class_list": "",
"function": "Putative pheromone receptor., [UniProtKB]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 1,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"disease_count": 0,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0005550 pheromone binding;GO:0016503 pheromone receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane",
"go_biological_process": "GO:0019236 response to pheromone;GO:0007606 sensory perception of chemical stimulus",
"synthesized_glycan_count": 0,
"hit_score": 0.4,
"record_id": "Q9BXE9-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H1F0-1",
"uniprot_id": [
{
"id": "WF10A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H1F0",
"type": "external"
}
],
"mass": 8943.0,
"length": 79,
"protein_name": "WAP four-disulfide core domain protein 10A",
"gene_name": "WFDC10A",
"organism": "Human",
"refseq_name": "WAP four-disulfide core domain protein 10A precursor",
"refseq_ac": [
{
"id": "NP_542791",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542791",
"type": "external"
}
],
"gene_names_uniprotkb": "WFDC10A; C20orf146; WAP10",
"gene_names_refseq": "C20orf146; WAP10; WFDC10A; dJ688G8.3",
"protein_names_uniprotkb": "WAP four-disulfide core domain protein 10A; Putative protease inhibitor WAP10A",
"protein_names_refseq": "WAP four-disulfide core domain protein 10A precursor; WAP four-disulfide core domain protein 10A; putative protease inhibitor WAP10A",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:140832)",
"pathway_count": 1,
"publication_count": 1,
"publication_id_list": "12206714",
"class_list": "",
"function": "This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
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"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
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"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_n_glycosites": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A2RRE9;Q5TGZ7",
"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response",
"synthesized_glycan_count": 0,
"hit_score": 0.2,
"record_id": "Q9H1F0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H6D3-1",
"uniprot_id": [
{
"id": "XKR8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H6D3",
"type": "external"
}
],
"mass": 44655.0,
"length": 395,
"protein_name": "XK-related protein 8",
"gene_name": "XKR8",
"organism": "Human",
"refseq_name": "XK-related protein 8",
"refseq_ac": [
{
"id": "NP_060523",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060523",
"type": "external"
}
],
"gene_names_uniprotkb": "XKR8; XRG8",
"gene_names_refseq": "XKR8; XRG8; hXkr8",
"protein_names_uniprotkb": "XK-related protein 8; hXkr8",
"protein_names_refseq": "X Kell blood group precursor-related family, member 8; X-linked Kx blood group related 8; XK, Kell blood group complex subunit-related family, member 8; XK-related protein 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55113)",
"pathway_count": 1,
"publication_count": 16,
"publication_id_list": "11237011;18452278;23845944;25231987;26936867;27503893;28881496;29338048;31844290;32387766;33592498;33968037;34357683;34625749;35051231;38364890",
"class_list": "",
"function": "(Microbial infection) Incorporated into Ebola virus-like particles, where its phospholipid scramblase activity is required to promote phosphatidylserine exposure on the surface of viral particles (PubMed:29338048). Externalization of phosphatidylserine on the surface of viral particles is required for uptake by host cells (PubMed:29338048)., [UniProtKB, PubMed]; Facilitates transbilayer migration of lipids [review] Review article, [RefSeq, PubMed]; Findings show the Xk-family protein Xkr8 mediates phosphatidylserine exposure in response to apoptotic stimuli; Xk-family proteins have evolutionarily conserved roles in promoting phagocytosis of dying cells by altering the phospholipid distribution in the plasma membrane, [RefSeq, PubMed]; Phospholipid scramblase that promotes phosphatidylserine exposure on apoptotic cell surface (PubMed:23845944, PubMed:25231987, PubMed:34625749, PubMed:38364890). Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment (PubMed:23845944, PubMed:34625749, PubMed:38364890). Required for the clearance of apoptotic cells, such as engulfment of apoptotic germ cells by Sertoli cells, clearance of senescent neutrophils or regulation of bipolar cell numbers in the retina (By similarity). In the hippocampus, phosphatidylserine exposure also acts as a specific 'eat-me' marker for axon pruning during brain development (By similarity). Has no effect on calcium-induced exposure of phosphatidylserine (PubMed:23845944). Promotes myoblast differentiation and survival (PubMed:28881496)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The Xkr8 influences myogenesis by acting as a positive regulator of terminal differentiation and myoblast survival., [RefSeq, PubMed]; The role of the C-terminal tail region as a plug to regulate XKR8 lipid scramblase., [RefSeq, PubMed]; The tertiary structure of the human Xkr8-Basigin complex that scrambles phospholipids at plasma membranes., [RefSeq, PubMed]; Xkr8-BSG/NPTN complex is required for phosphatidylserine scrambling in apoptotic cell membranes., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
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"reported_phosphosites": 4,
"reported_mutagensis": 5,
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"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "",
"ec_number_list": [
{
"id": "3.1.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-",
"type": "external"
},
{
"id": "1.6.5.5",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5",
"type": "external"
}
],
"go_molecular_function": "GO:0017128 phospholipid scramblase activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0043652 engulfment of apoptotic cell;GO:0097350 neutrophil clearance;GO:0098883 synapse pruning;GO:0045663 positive regulation of myoblast differentiation;GO:0070782 phosphatidylserine exposure on apoptotic cell surface",
"synthesized_glycan_count": 0,
"hit_score": 1.7,
"record_id": "Q9H6D3-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NQA3-1",
"uniprot_id": [
{
"id": "WASH6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NQA3",
"type": "external"
}
],
"mass": 47990.0,
"length": 447,
"protein_name": "WAS protein family homolog 6",
"gene_name": "WASH6P",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "WASH6P; CXYorf1; FAM39A",
"gene_names_refseq": "",
"protein_names_uniprotkb": "WAS protein family homolog 6; Protein FAM39A",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "",
"pathway": "",
"pathway_count": 0,
"publication_count": 42,
"publication_id_list": "10655549;11237011;16964243;18159949;20112406;22424782;23186163;24714562;25576301;26728094;26992070;27397612;27846572;27862975;28063628;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29789417;30429286;31154438;31217245;31844290;31848261;32157095;32265295;32488085;33298915;33592498;33717175;33912179;33936100;34171305;34357683;34405274;35051231;35580925;36241641",
"class_list": "",
"function": "May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting., [UniProtKB, UniProtKB, UniProtKB]",
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"reported_mutagensis": 0,
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"reported_snv": 0,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A6NGF1;Q8N305",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0043014 alpha-tubulin binding",
"go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane",
"go_biological_process": "GO:0016197 endosomal transport;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0042147 retrograde transport, endosome to Golgi;GO:0006887 exocytosis",
"synthesized_glycan_count": 0,
"hit_score": 4.3,
"record_id": "Q9NQA3-1",
"record_type": "protein",
"filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y279-1",
"uniprot_id": [
{
"id": "VSIG4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y279",
"type": "external"
}
],
"mass": 43987.0,
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"organism": "Human",
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{
"id": "NP_001093901",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093901",
"type": "external"
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"disease": "",
"pathway": " (hsa:11326)",
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"function": "CRIg on liver macrophages clears pathobionts and protects against alcoholic liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases., [UniProtKB, PubMed, PubMed]; Results report the identification and characterization of a Complement Receptor of the Immunoglobulin superfamily, CRIg, that binds complement fragments C3b and iC3b., [RefSeq, PubMed]; The immunomodulatory role of paracrine signalling factor VSIG4 in peritoneal metastases. Publication Status: Online-Only, [RefSeq, PubMed]; The specific expression of VSIG4 on resting macrophages suggests that VSIG4 may be important for the maintenance of T cell unresponsiveness in healthy tissues., [RefSeq, PubMed]; These data indicate that the macrophage Z39Ig is involved in the pathogenesis of inflammatory diseases through chemokine induction, which will promote the migration of inflammatory cells into the lesion area, and MMP-9 induction., [RefSeq, PubMed]; This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; V-Set Immunoglobulin Domain-Containing Protein 4 as a Novel Serum Biomarker of Lupus Nephritis and Renal Pathology Activity., [RefSeq, PubMed]; VSIG4 ameliorates intestinal inflammation through inhibiting macrophages NLRP3 inflammasome and pyroptosis., [RefSeq, PubMed]",
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},
{
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{
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{
"id": "NP_001375357",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001375357",
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"protein_names_refseq": "FOXA1-Regulated Conserved Small Protein; long intergenic non-protein coding RNA 675; putative transmembrane protein LOC100289255; transmembrane protein 238-like",
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"function": "A small protein encoded by a putative lncRNA regulates apoptosis and tumorigenicity in human colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of Long Non-coding RNAs H19 and LINC00675 in Colorectal Cancers in Terms of Histopathological Features and Correlations With Plasma Markers., [RefSeq, PubMed]; LINC00675 acts as a tumor promoter in glioma progression.Levels of LINC00675 expression are increased in glioma tissues. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00675 interacted with vimentin, a protein involved in cell metastasis, and enhanced its phosphorylation level on Ser83 to result in the collapse of vimentin filament in GC cells, thereby reducing cell metastasis. Erratum:[Cancer Lett. 2022 Sep 1;543:215805. doi: 10.1016/j.canlet.2022.215805. PMID: 35760612], [RefSeq, PubMed]; LINC00675 promoted cancer cell proliferation, migration, and invasion, and inhibit apoptosis likely by modulating the Wnt/beta-catenin pathway., [RefSeq, PubMed]; Linc00675 may function as an oncogene during pancreatic ductal adenocarcinoma development, and its expression is an independent predictor of unfavorable prognosis in patients with PDAC., [RefSeq, PubMed]; Long non-coding RNA LINC00675 is associated with bladder cancer metastasis and patient survival., [RefSeq, PubMed]; Long noncoding RNA LINC00675 drives malignancy in acute myeloid leukemia via the miR-6809 -CDK6 axis., [RefSeq, PubMed]; May play a role in inducing apoptosis during endoplasmic reticulum (ER) stress and in the inhibition of proliferation and tumorigenicity., [UniProtKB, PubMed]; Overexpression of Linc00675 inhibited the proliferation, invasion and migration of colorectal cancer cells., [RefSeq, PubMed]",
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},
{
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{
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"protein_name": "Zinc finger protein 727",
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{
"id": "NP_001152994",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152994",
"type": "external"
}
],
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"tax_id": 9606,
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"pathway": " (hsa:442319); (R-HSA-212436)",
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"go_cellular_component": "GO:0005730 nucleolus;GO:0015630 microtubule cytoskeleton",
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},
{
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],
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"protein_name": "Small integral membrane protein 34",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354277",
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}
],
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{
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{
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],
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"protein_name": "Zinc finger protein 518B",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_444270",
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],
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"function": "CLNK and ZNF518B SNPs may have potential as diagnostic and prognostic marker for Chinese gout patients., [RefSeq, PubMed]; SLC2A9 and ZNF518B polymorphisms correlate with gout-related metabolic indices in Chinese Tibetan populations Publication Status: Online-Only, [RefSeq, PubMed]; Through its association with the EHMT1-EHMT2/G9A and PRC2/EED-EZH2 histone methyltransferase complexes may function in gene silencing, regulating repressive post-translational methylation of histone tails at promoters of target genes., [UniProtKB, UniProtKB]; ZNF518B exhibits a pattern of isoform abundance dependent on KRAS G13D and G12D mutations., [RefSeq, PubMed]",
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},
{
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],
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"protein_name": "Zinc finger protein 141",
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{
"id": "NP_003432",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003432",
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],
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"tax_id": 9606,
"disease": "polydactyly, postaxial, type A6 (MONDO:MONDO:0014090)",
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"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0035108 limb morphogenesis;GO:0009653 anatomical structure morphogenesis",
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},
{
"uniprot_canonical_ac": "Q96LW1-1",
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{
"id": "Z354B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LW1",
"type": "external"
}
],
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{
"id": "NP_478137",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_478137",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:117608); (R-HSA-212436)",
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"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;30379171;31844290;32387766;33981976;34509645;35051231;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "Transcriptional repressor that binds DNA upon activation by RAS proteins signal transduction to initiate transcriptional silencing through the recruitment of additional DNA-binding proteins, multisubunit complexes and chromatin-modifying activities to establish a platform for DNMT1 recruitment., [UniProtKB, UniProtKB]",
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},
{
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{
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],
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{
"id": "NP_872327",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_872327",
"type": "external"
}
],
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"tax_id": 9606,
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"pathway": " (hsa:151112)",
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"publication_id_list": "11237011;19851296;20198315;35051231;35831855;38253038",
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"function": "E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]",
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},
{
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{
"id": "ZP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P60852",
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}
],
"mass": 70049.0,
"length": 638,
"protein_name": "Zona pellucida sperm-binding protein 1",
"gene_name": "ZP1",
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"refseq_name": "zona pellucida sperm-binding protein 1 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_997224",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_997224",
"type": "external"
}
],
"gene_names_uniprotkb": "ZP1",
"gene_names_refseq": "HEL163; OOMD1; OOMD; OZEMA1; ZP1; ZPB1",
"protein_names_uniprotkb": "Zona pellucida sperm-binding protein 1; Zona pellucida glycoprotein 1; Zp-1",
"protein_names_refseq": "epididymis luminal protein 163; zona pellucida glycoprotein 1 (sperm receptor); zona pellucida sperm-binding protein 1 isoform 1 precursor; zona pellucida sperm-binding protein 1",
"tax_id": 9606,
"disease": "female infertility due to zona pellucida defect (MONDO:MONDO:0014342)",
"pathway": " (hsa:22917); (R-HSA-2534343)",
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"publication_id_list": "10542331;11237011;15461625;15860499;19664995;20364096;24670168;24715725;28886344;29895852;33423275;33665726;33968037;35460069;35773450;36931917;8195297",
"class_list": "",
"function": "A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome., [RefSeq, PubMed]; A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome., [RefSeq, PubMed]; A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females., [RefSeq, PubMed]; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida., [UniProtKB]; Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women., [RefSeq, PubMed]; Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]., [RefSeq]",
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"go_molecular_function": "GO:0035804 structural constituent of egg coat;GO:0032190 acrosin binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0035805 egg coat",
"go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0060468 prevention of polyspermy",
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},
{
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{
"id": "ZIC2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95409",
"type": "external"
}
],
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"protein_name": "Zinc finger protein ZIC 2",
"gene_name": "ZIC2",
"organism": "Human",
"refseq_name": "zinc finger protein ZIC 2",
"refseq_ac": [
{
"id": "NP_009060",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009060",
"type": "external"
}
],
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"gene_names_refseq": "HPE5; ZIC2",
"protein_names_uniprotkb": "Zinc finger protein ZIC 2; Zinc finger protein of the cerebellum 2",
"protein_names_refseq": "Zic family member 2 (odd-paired homolog, Drosophila); Zinc finger protein of the cerebellum 2; zinc finger protein ZIC 2",
"tax_id": 9606,
"disease": "holoprosencephaly 5 (Disease Ontology:DOID:0110878); holoprosencephaly (Disease Ontology:DOID:4621); schizophrenia (Disease Ontology:DOID:5419)",
"pathway": " (hsa:7546); (R-HSA-9823739)",
"pathway_count": 2,
"publication_count": 33,
"publication_id_list": "10984499;11285244;15221788;15590697;17251188;18068128;19177455;20068231;20074535;25645385;27052315;27600516;29557506;30429286;30524438;30833945;31154438;31844290;31848261;32157095;32387766;33968037;34087483;34171305;35051231;35318648;36010968;37479694;37496990;37774522;38594503;39358345;9771712",
"class_list": "",
"function": "Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos., [UniProtKB]; FOXM1-regulated ZIC2 promotes the malignant phenotype of renal clear cell carcinoma by activating UBE2C/mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcription factor ZIC2 regulates the tumorigenic phenotypes associated with both bulk and cancer stem cells in epithelial ovarian cancer., [RefSeq, PubMed]; ZIC2 accelerates growth and stemness in gastric cancer through the Wnt/beta-catenin pathway., [RefSeq, PubMed]; ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency. Publication Status: Online-Only, [RefSeq, PubMed]; ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal carcinoma by activating the JUNB/MCSF axis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016604 nuclear body",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription;GO:0007417 central nervous system development",
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},
{
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{
"id": "ZMYM6_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95789",
"type": "external"
}
],
"mass": 148089.0,
"length": 1325,
"protein_name": "Zinc finger MYM-type protein 6",
"gene_name": "ZMYM6",
"organism": "Human",
"refseq_name": "zinc finger MYM-type protein 6",
"refseq_ac": [
{
"id": "NP_009098",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009098",
"type": "external"
}
],
"gene_names_uniprotkb": "ZMYM6; Buster2; KIAA1353; ZNF258",
"gene_names_refseq": "Buster2; MYM; ZBED7; ZMYM6; ZNF198L4; ZNF258",
"protein_names_uniprotkb": "Zinc finger MYM-type protein 6; Transposon-derived Buster2 transposase-like protein; Zinc finger protein 258",
"protein_names_refseq": "transposon-derived Buster2 transposase-like protein; zinc finger MYM-type protein 6; zinc finger protein 258; zinc finger, BED-type containing 7; zinc finger, MYM-type 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9204)",
"pathway_count": 1,
"publication_count": 50,
"publication_id_list": "10.1101/2023.09.13.557529;10486218;21834987;23186163;24715725;26992070;27600516;28218747;28514659;28657654;28832583;28904123;29242379;29393594;29437277;29786170;30315122;30379171;30429286;30524438;30620550;31092671;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32897882;32938616;32938750;32983136;33392160;33691108;33717175;33968037;34087483;34185709;34357683;34509645;34846842;35051231;35254053;35580925;36010968;36241641;39302247;39531497;40307207",
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"function": "Required for regulation of cell morphology and cytoskeletal organization., [UniProtKB, PubMed]",
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"secondary_ac_list": "B4DRJ6;Q32Q23;Q4G108;Q5SVZ9;Q5SW00;Q69YL4;Q96IY0;Q9NWF1;Q9P2J4",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005654 nucleoplasm",
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},
{
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{
"id": "ZN735_HUMAN",
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"type": "external"
}
],
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"protein_name": "Zinc finger protein 735",
"gene_name": "ZNF735",
"organism": "Human",
"refseq_name": "zinc finger protein 735",
"refseq_ac": [
{
"id": "NP_001152996",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152996",
"type": "external"
}
],
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"gene_names_refseq": "ZNF735P; ZNF735",
"protein_names_uniprotkb": "Zinc finger protein 735",
"protein_names_refseq": "putative zinc finger protein 735; zinc finger protein 735 pseudogene; zinc finger protein 735",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:730291); (R-HSA-212436)",
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"publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;34357683;35051231;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "P0CB33-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17030-1",
"uniprot_id": [
{
"id": "ZNF25_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17030",
"type": "external"
}
],
"mass": 53545.0,
"length": 456,
"protein_name": "Zinc finger protein 25",
"gene_name": "ZNF25",
"organism": "Human",
"refseq_name": "zinc finger protein 25 isoform b",
"refseq_ac": [
{
"id": "NP_001316579",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316579",
"type": "external"
}
],
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"gene_names_refseq": "KOX19; ZNF25; Zfp9",
"protein_names_uniprotkb": "Zinc finger protein 25; Zinc finger protein KOX19",
"protein_names_refseq": "zinc finger protein 25 (KOX 19); zinc finger protein 25 isoform b; zinc finger protein KOX19",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:219749); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 29,
"publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;16959974;18452278;2163759;2288909;27814695;29351928;29557506;30429286;30833945;31154438;31844290;32157095;32897882;33912179;33968037;35254053;35580925;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "This study shows that the uncharacterized transcription factor, ZNF25, is associated with differentiation of hMSC to osteoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional repressor that plays a role in the proper differentiation of skeletal stem cells into osteoblasts., [UniProtKB, PubMed]",
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"secondary_ac_list": "A9Z1X5;Q8IYE3;Q8NDD6;Q96MU2",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
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},
{
"uniprot_canonical_ac": "P17039-1",
"uniprot_id": [
{
"id": "ZNF30_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17039",
"type": "external"
}
],
"mass": 71417.0,
"length": 623,
"protein_name": "Zinc finger protein 30",
"gene_name": "ZNF30",
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"refseq_name": "zinc finger protein 30 isoform a",
"refseq_ac": [
{
"id": "NP_001092907",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092907",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 30 (KOX 28); zinc finger protein 30 isoform a; zinc finger protein KOX28",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:90075); (R-HSA-212436); (R-HSA-9843940)",
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"publication_count": 32,
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "P51815-1",
"uniprot_id": [
{
"id": "ZN75D_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51815",
"type": "external"
}
],
"mass": 59298.0,
"length": 510,
"protein_name": "Zinc finger protein 75D",
"gene_name": "ZNF75D",
"organism": "Human",
"refseq_name": "zinc finger protein 75D isoform 2",
"refseq_ac": [
{
"id": "NP_001171992",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171992",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF75D; ZNF75; ZNF82",
"gene_names_refseq": "D8C6; ZKSCAN24; ZNF75D; ZNF75; ZNF82; ZSCAN28",
"protein_names_uniprotkb": "Zinc finger protein 75D; Zinc finger protein 75; Zinc finger protein 82",
"protein_names_refseq": "zinc finger protein 75D isoform 2; zinc finger protein 75; zinc finger protein 82",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7626); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 18,
"publication_id_list": "10235266;10330177;11395415;14519192;1505955;15175151;15896744;16606702;16719718;2163759;25505266;27846572;27920218;8183939;8288223;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010]., [RefSeq]",
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"secondary_ac_list": "A6NK62;B3KRI7;Q5JPG0;Q6LDE0",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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},
{
"uniprot_canonical_ac": "P52740-1",
"uniprot_id": [
{
"id": "ZN132_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52740",
"type": "external"
}
],
"mass": 80623.0,
"length": 706,
"protein_name": "Zinc finger protein 132",
"gene_name": "ZNF132",
"organism": "Human",
"refseq_name": "zinc finger protein 132",
"refseq_ac": [
{
"id": "NP_003424",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003424",
"type": "external"
}
],
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"gene_names_refseq": "ZNF132; pHZ-12",
"protein_names_uniprotkb": "Zinc finger protein 132",
"protein_names_refseq": "zinc finger protein 132",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7691)",
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"publication_count": 7,
"publication_id_list": "17975119;19023099;21445975;30578410;32387766;33827486;7557990",
"class_list": "",
"function": "Downregulated ZNF132 predicts unfavorable outcomes in breast Cancer via Hypermethylation modification. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of ZNF132 is associated with aggressive prostate cancer., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Results suggest that ZNF132 plays an important role in the development of esophageal squamous cell carcinoma as a tumor suppressor gene and support the underlying mechanism caused by the DNA hypermethylation-mediated Sp1-binding decay and gene silencing. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009891 positive regulation of biosynthetic process",
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},
{
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{
"id": "ZN135_HUMAN",
"url": "https://www.uniprot.org/uniprot/P52742",
"type": "external"
}
],
"mass": 75261.0,
"length": 658,
"protein_name": "Zinc finger protein 135",
"gene_name": "ZNF135",
"organism": "Human",
"refseq_name": "zinc finger protein 135 isoform 4",
"refseq_ac": [
{
"id": "NP_001158001",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158001",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF135; ZNF61; ZNF78L1",
"gene_names_refseq": "ZNF135; ZNF61; ZNF78L1; pHZ-17; pT3",
"protein_names_uniprotkb": "Zinc finger protein 135; Zinc finger protein 61; Zinc finger protein 78-like 1",
"protein_names_refseq": "zinc finger protein 135 (clone pHZ-17); zinc finger protein 135 isoform 4; zinc finger protein 61; zinc finger protein 78-like 1 (pT3)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7694); (R-HSA-212436)",
"pathway_count": 2,
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"class_list": "",
"function": "May be involved in transcriptional regulation (Probable). Required for regulation of cell morphology and cytoskeletal organization (PubMed:21834987)., [UniProtKB, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0022603 regulation of anatomical structure morphogenesis;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "Q15776-1",
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{
"id": "ZKSC8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15776",
"type": "external"
}
],
"mass": 65816.0,
"length": 578,
"protein_name": "Zinc finger protein with KRAB and SCAN domains 8",
"gene_name": "ZKSCAN8",
"organism": "Human",
"refseq_name": "zinc finger protein with KRAB and SCAN domains 8 isoform 1",
"refseq_ac": [
{
"id": "NP_001265048",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265048",
"type": "external"
}
],
"gene_names_uniprotkb": "ZKSCAN8; ZNF192",
"gene_names_refseq": "LD5-1; ZKSCAN8; ZNF192; ZSCAN40",
"protein_names_uniprotkb": "Zinc finger protein with KRAB and SCAN domains 8; LD5-1; Zinc finger protein 192",
"protein_names_refseq": "zinc finger protein 192; zinc finger protein with KRAB and SCAN domains 8 isoform 1; zinc finger protein with KRAB and SCAN domains 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7745); (R-HSA-212436)",
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"protein_name": "Zinc finger protein 282",
"gene_name": "ZNF282",
"organism": "Human",
"refseq_name": "zinc finger protein 282 isoform 2",
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{
"id": "NP_001290410",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290410",
"type": "external"
}
],
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"pathway": " (hsa:8427); (R-HSA-212436)",
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"class_list": "",
"function": "Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5'-TCCACCCC-3' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression., [UniProtKB]; SUMOylation of ZFP282 potentiates its positive effect on estrogen signaling in breast tumorigenesis., [RefSeq, PubMed]; ZNF282 is E2F1 co-activator involved in esophageal squamous cell carcinoma, [RefSeq, PubMed]",
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{
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{
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},
{
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{
"id": "ZN214_HUMAN",
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"type": "external"
}
],
"mass": 70992.0,
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"protein_name": "Zinc finger protein 214",
"gene_name": "ZNF214",
"organism": "Human",
"refseq_name": "zinc finger protein 214 isoform 2",
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{
"id": "NP_037381",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_037381",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF214; BAZ1",
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"protein_names_uniprotkb": "Zinc finger protein 214; BAZ-1; BWSCR2-associated zinc finger protein 1",
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"tax_id": 9606,
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"pathway": " (hsa:7761); (R-HSA-212436)",
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"function": "For a number of genes affected by de novo copy number variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]., [RefSeq]",
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},
{
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{
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}
],
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"protein_name": "Zinc finger protein 777",
"gene_name": "ZNF777",
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{
"id": "NP_056509",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056509",
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}
],
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"pathway": " (hsa:27153); (R-HSA-212436)",
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"function": "May be involved in transcriptional repression (PubMed:31856708). Inhibits cell proliferation through CDKN1A/p21 induction by down-regulation of NIBAN1/FAM129A at low cell density (PubMed:25560148)., [UniProtKB, PubMed, PubMed]",
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},
{
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{
"id": "ZN281_HUMAN",
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}
],
"mass": 96915.0,
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"protein_name": "Zinc finger protein 281",
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"organism": "Human",
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{
"id": "NP_001268222",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268222",
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}
],
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"pathway": " (hsa:23528)",
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"function": "Cancer-associated fibroblasts facilitate premetastatic niche formation through lncRNA SNHG5-mediated angiogenesis and vascular permeability in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Cervical carcinoma progression is aggravated by lncRNA ZNF281 by binding KLF15., [RefSeq, PubMed]; LncRNA-ZNF281 Interacts with miR-539 to Promote Hepatocellular Carcinoma Cell Invasion and Migration., [RefSeq, PubMed]; Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes., [UniProtKB, PubMed, PubMed]; ZNF281 Promotes Colon Fibroblast Activation in TGFbeta1-Induced Gut Fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm",
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},
{
"uniprot_canonical_ac": "Q9Y493-1",
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{
"id": "ZAN_HUMAN",
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],
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"protein_name": "Zonadhesin",
"gene_name": "ZAN",
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"refseq_name": "zonadhesin isoform 3 precursor",
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{
"id": "NP_003377",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003377",
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],
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"pathway": " (hsa:7455)",
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"function": "Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling., [UniProtKB]; This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]; VWD2, membrane/A5 antigen mu receptor, and mucin-like domains in zonadhesin are rapidly evolving and, thus, may be involved in binding to the ZP in a species-specific manner, [RefSeq, PubMed]",
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},
{
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{
"id": "ZNF77_HUMAN",
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],
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{
"id": "NP_067040",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_067040",
"type": "external"
}
],
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF77 as a key controller of Aspergillus colonization and suggest its utility as a risk-marker for patient stratification. Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
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{
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"protein_name": "Zinc finger protein 674",
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{
"id": "NP_001034980",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034980",
"type": "external"
}
],
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"function": "Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning. Erratum:[Am J Hum Genet. 2006 May;78(5):897], [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; These findings question the responsibility of ZNF674 deletions in intellectual disability (ID) associated with X-linked retinal dystrophy., [RefSeq, PubMed]; This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]., [RefSeq]",
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},
{
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{
"id": "ZN284_HUMAN",
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"type": "external"
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{
"id": "NP_001032902",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032902",
"type": "external"
}
],
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"tax_id": 9606,
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"function": "May be involved in transcriptional regulation., [UniProtKB]; This study reports the cloning and characterization of a novel human zinc finger protein cDNA (ZNF284L) from fetal brain cDNA library. The ZNF284L cDNA is 2223 bp in length encoding a 593-aa polypeptide., [RefSeq, PubMed]",
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},
{
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{
"id": "ZACN_HUMAN",
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"type": "external"
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],
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"protein_name": "Ligand-gated cation channel ZACN",
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{
"id": "NP_851321",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_851321",
"type": "external"
}
],
"gene_names_uniprotkb": "ZACN; L2; LGICZ1; LGICZ; ZAC",
"gene_names_refseq": "L2; LGICZ1; LGICZ; ZAC1; ZACN; ZAC",
"protein_names_uniprotkb": "Ligand-gated cation channel ZACN; Ligand-gated ion channel zinc-activated 1; Ligand-gated ion-channel receptor L2; Zinc-activated channel",
"protein_names_refseq": "ligand-gated cation channel ZACN precursor; ligand-gated cation channel ZACN; ligand-gated ion channel subunit; ligand-gated ion channel zinc-activated 1; ligand-gated ion-channel receptor L2; zinc activated ligand-gated ion channel 1; zinc-activated channel; zinc-activated ligand-gated ion channel",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:353174)",
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"publication_id_list": "10.1101/2023.09.13.557529;12381728;16083862;24715725;26872532;28228285;28904123;29557506;33392160;34560053;35051231;36010968",
"class_list": "",
"function": "Analysis of ligand-gated ion-channel receptor L2 in central nervous system, [RefSeq, PubMed]; LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008]., [RefSeq]; Ligand-gated cation channel that allows the movement of sodium and potassium monoatomic cations across cell membranes when activated by zinc (Zn2+), copper (Cu2+), and changes in pH (PubMed:26872532). Could also transport cesium (PubMed:26872532)., [UniProtKB, PubMed]; Probing the molecular basis for signal transduction through the Zinc-Activated Channel (ZAC)., [RefSeq, PubMed]",
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{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
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],
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"go_cellular_component": "GO:0005886 plasma membrane;GO:1902495 transmembrane transporter complex",
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},
{
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"protein_name": "Zinc finger protein 658B",
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"function": "May be involved in transcriptional regulation., [UniProtKB]",
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},
{
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"id": "ZN311_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JNZ3",
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],
"mass": 76322.0,
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"protein_name": "Zinc finger protein 311",
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"refseq_name": "zinc finger protein 311 isoform a",
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{
"id": "NP_001010877",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010877",
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],
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; Prognostic Biomarker ZNF311 and Its Correlation With Tumor Progression and Immune Infiltrates in Glioma., [RefSeq, PubMed]",
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{
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"protein_names_uniprotkb": "Zinc finger C4H2 domain-containing protein; Hepatocellular carcinoma-associated antigen 127",
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"tax_id": 9606,
"disease": "Wieacker-Wolff syndrome (Disease Ontology:DOID:0060815); female-restricted Wieacker-Wolff syndrome (Disease Ontology:DOID:0061015); epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:55906)",
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"class_list": "",
"function": "Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord., [RefSeq, PubMed]; Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation. Binds Zn(2+) ion with high affinity (PubMed:40867536). The RNF220/ZC4H2 complex monoubiquitinates PHOX2A and PHOX2B to enhance their DNA-binding ability and transactivity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. Erratum:[J Mol Cell Biol. 2022 May 25;14(2):mjac030. doi: 10.1093/jmcb/mjac030. PMID: 35639540], [RefSeq, PubMed]; This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]",
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{
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{
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"protein_name": "Zinc finger protein 782",
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{
"id": "NP_001001662",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001662",
"type": "external"
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; The present results suggest that the genomic region containing the ZNP510 and ZNP782 genes is an ethnic specific locus associated with stature variation in Chinese. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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{
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{
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{
"id": "NP_001276902",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276902",
"type": "external"
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],
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"tax_id": 9606,
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{
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{
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{
"id": "NP_060587",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060587",
"type": "external"
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],
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"gene_names_refseq": "BRWD2; DR11; HH14; SRI1; WDR11; WDR15",
"protein_names_uniprotkb": "WD repeat-containing protein 11; Bromodomain and WD repeat-containing protein 2; WD repeat-containing protein 15",
"protein_names_refseq": "WD repeat domain 15; WD repeat-containing protein 11; WD repeat-containing protein 15; bromodomain and WD repeat-containing protein 2; sensitization to ricin complex subunit 1",
"tax_id": 9606,
"disease": "autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); ciliopathy (Disease Ontology:DOID:0060340); hypogonadotropic hypogonadism 14 with or without anosmia (Disease Ontology:DOID:0090087); Kallmann syndrome (Disease Ontology:DOID:3614); intellectual developmental disorder, autosomal recessive 78 (MONDO:MONDO:0859373)",
"pathway": " (hsa:55717); (R-HSA-9013407)",
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"class_list": "",
"function": "Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability., [RefSeq, PubMed]; Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations., [RefSeq, PubMed]; Data indicate a functional link between adaptor protein complex 1 (AP-1) and the WD repeat protein 11 (WDR11) complex. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that the HTPAPL-WDR11-FGFR2 locus was more susceptible to recombination than to nucleotide substitution., [RefSeq, PubMed]; Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865)., [UniProtKB, PubMed, PubMed]; Our study reveals a novel class of ciliopathy caused by WDR11 mutations and suggests that CHH/KS may be a part of the human ciliopathy spectrum., [RefSeq, PubMed]; Represents a candidate gene for the frequently proposed tumor suppressor gene in 10q25-26, which is involved in tumorigenesis of glial and other tumors showing frequent alterations in the distal 10q region., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]., [RefSeq]; This gene is expressed on chromosome 10p26., [RefSeq, PubMed]",
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},
{
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],
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"protein_name": "Zinc finger protein 521",
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{
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],
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"protein_names_refseq": "LYST-interacting protein 3; early hematopoietic zinc finger protein; zinc finger protein 521 isoform 2",
"tax_id": 9606,
"disease": "schizophrenia (Disease Ontology:DOID:5419)",
"pathway": " (hsa:25925); (R-HSA-8940973); (R-HSA-9823739); (R-HSA-9832991)",
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"class_list": "",
"function": "A review of possible roles for ZNF521 in development, stem cell regulation and oncogenesis. Review article, [RefSeq, PubMed]; EHZF is likely to play a relevant role in the control of human hematopoiesis and might be implicated in the development of hematopoietic malignancies., [RefSeq, PubMed]; Enhanced ZNF521 expression induces an aggressive phenotype in human ovarian carcinoma cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory Role of microRNAs Targeting the Transcription Co-Factor ZNF521 in Normal Tissues and Cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes., [UniProtKB, PubMed, UniProtKB, UniProtKB]; ZNF521 Enhances MLL-AF9-Dependent Hematopoietic Stem Cell Transformation in Acute Myeloid Leukemias by Altering the Gene Expression Landscape. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF521 modulates erythroid cell differentiation through direct binding with GATA-1., [RefSeq, PubMed]; Zinc Finger 521 Modulates the Nrf2-Notch Signaling Pathway in Human Ovarian Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]",
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},
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{
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{
"id": "NP_001284553",
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"function": "Involved in transcriptional regulation as an activator., [UniProtKB, PubMed]; This supports the notion that de novo mutations in ZNF480 are extremely rare in schizophrenia Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
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{
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"protein_name": "Zinc finger protein 669",
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{
"id": "NP_001136044",
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},
{
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{
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],
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"length": 653,
"protein_name": "Neurotrophin receptor-interacting factor homolog",
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"refseq_name": "neurotrophin receptor-interacting factor homolog isoform d",
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{
"id": "NP_001265663",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265663",
"type": "external"
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],
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"protein_names_uniprotkb": "Neurotrophin receptor-interacting factor homolog; Zf2; Zinc finger protein 274; Zinc finger protein HFB101; Zinc finger protein with KRAB and SCAN domains 19; Zinc finger protein zfp2",
"protein_names_refseq": "KRAB zinc finger protein HFB101; neurotrophin receptor-interacting factor homolog isoform d; neurotrophin receptor-interacting factor homolog; zinc finger protein with KRAB and SCAN domains 19; zinc finger protein zfp2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10782); (R-HSA-212436)",
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"function": "A proximal promoter construct for the MAS gene was repressed by the SOX [SRY (sex-determining region on the Y chromosome) box] proteins SRY, SOX2, SOX3 and SOX14, of which SRY is known to interact with the KRAB domain., [RefSeq, PubMed]; Analysis of a KRAB domain-containing ZNF (ZNF274) that is involved in recruitment of the KAP1 and SETDB1 to specific regions of the human genome Publication Status: Online-Only, [RefSeq, PubMed]; KAP1 functions to coordinate activities that dynamically regulate changes in histone modifications and deposition of HP1 to establish a de novo microenvironment of heterochromatin, which is required for repression of gene transcription by KRAB-zfps., [RefSeq, PubMed]; Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons., [RefSeq, PubMed]; This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]., [RefSeq]",
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},
{
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{
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}
],
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166145",
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}
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{
"id": "NP_001342126",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342126",
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],
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{
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{
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],
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"function": "Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes., [RefSeq, PubMed]; Primate-specific ZNF808 is essential for pancreatic development in humans., [RefSeq, PubMed]; Transcriptional repressor that targets mainly transposable elements (PubMed:37973953). Primarily targets the long terminal repeat of endogenous retroviruses classified as MER11 elements which comprise subfamilies A, B and C (PubMed:37973953). May silence transposable elements through the establishment of heterochromatin-associated trimethylation of 'Lys-9' of histone H3 (H3K9me3) (PubMed:37973953). Can also bind to certain gene promoters and other genomic regions (PubMed:37973953). Represses transcription of specific MER11 elements during differentiation toward pancreatic lineages in early pancreas development (PubMed:37973953). By repressing transcription, prevents a liver gene expression program from being aberrantly activated during pancreas differentiation (PubMed:37973953)., [UniProtKB, PubMed]",
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],
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"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription",
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},
{
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{
"id": "YX002_HUMAN",
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"type": "external"
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"gene_name": "",
"organism": "Human",
"refseq_name": "",
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"protein_names_uniprotkb": "Putative uncharacterized protein LOC642776",
"protein_names_refseq": "",
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{
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{
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"mass": 43547.0,
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"protein_name": "Zinc finger CCHC domain-containing protein 3",
"gene_name": "ZCCHC3",
"organism": "Human",
"refseq_name": "zinc finger CCHC domain-containing protein 3",
"refseq_ac": [
{
"id": "NP_149080",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_149080",
"type": "external"
}
],
"gene_names_uniprotkb": "ZCCHC3; C20orf99",
"gene_names_refseq": "C20orf99; ZCCHC3",
"protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 3",
"protein_names_refseq": "zinc finger CCHC domain-containing protein 3; zinc finger, CCHC domain containing 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:85364)",
"pathway_count": 1,
"publication_count": 34,
"publication_id_list": "15592455;25645385;26992070;27600516;28832583;28904123;29242379;29557506;30135424;30193849;30429286;30524438;31844290;32157095;32161166;32350084;32357974;32387766;32938616;33298915;33592498;33633747;33936100;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35872280;36010968;36241641;40914422",
"class_list": "",
"function": "Nucleic acid-binding protein involved in innate immune response to DNA and RNA viruses (PubMed:30135424, PubMed:30193849). Binds DNA and RNA in the cytoplasm and acts by promoting recognition of viral nucleic acids by virus sensors, such as RIGI, IFIH1/MDA5 and CGAS (PubMed:30135424, PubMed:30193849). Acts as a co-sensor for recognition of double-stranded DNA (dsDNA) by cGAS in the cytoplasm, thereby playing a role in innate immune response to cytosolic dsDNA and DNA virus (PubMed:30135424). Binds dsDNA and probably acts by promoting sensing of dsDNA by CGAS, leading to enhance CGAS oligomerization and activation (PubMed:30135424). Promotes sensing of viral RNA by RIGI-like receptors proteins RIGI and IFIH1/MDA5 via two mechanisms: binds double-stranded RNA (dsRNA), enhancing the binding of RIGI and IFIH1/MDA5 to dsRNA and promotes 'Lys-63'-linked ubiquitination and subsequent activation of RIGI and IFIH1/MDA5 (PubMed:30193849)., [UniProtKB, PubMed, PubMed]; Proteomic analysis reveals zinc-finger CCHC-type containing protein 3 as a factor inhibiting virus infection by promoting innate signaling., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005737 cytoplasm",
"go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:1900246 positive regulation of RIG-I signaling pathway;GO:0002218 activation of innate immune response",
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},
{
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{
"id": "ZN629_HUMAN",
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}
],
"mass": 96620.0,
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"protein_name": "Zinc finger protein 629",
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"organism": "Human",
"refseq_name": "zinc finger protein 629 isoform 1",
"refseq_ac": [
{
"id": "NP_001073886",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073886",
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],
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"protein_names_refseq": "DNA-binding protein; zinc finger protein 629 isoform 1; zinc finger protein 65",
"tax_id": 9606,
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{
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{
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],
"mass": 71871.0,
"length": 627,
"protein_name": "Zinc finger protein 256",
"gene_name": "ZNF256",
"organism": "Human",
"refseq_name": "zinc finger protein 256 isoform 1",
"refseq_ac": [
{
"id": "NP_005764",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005764",
"type": "external"
}
],
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"protein_names_uniprotkb": "Zinc finger protein 256; BMZF-3; Bone marrow zinc finger 3",
"protein_names_refseq": "bone marrow zinc finger 3; zinc finger protein 256 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10172); (R-HSA-212436)",
"pathway_count": 2,
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"class_list": "",
"function": "These findings suggest that BMZF3 is a transcriptional repressor induced by GDNF that plays a role in cell proliferation., [RefSeq, PubMed]; Transcriptional repressor that plays a role in cell proliferation. Requires TRIM28 for its activity., [UniProtKB, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm",
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},
{
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{
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],
"mass": 49148.0,
"length": 459,
"protein_name": "Zinc finger and BTB domain-containing protein 12",
"gene_name": "ZBTB12",
"organism": "Human",
"refseq_name": "zinc finger and BTB domain-containing protein 12",
"refseq_ac": [
{
"id": "NP_862825",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_862825",
"type": "external"
}
],
"gene_names_uniprotkb": "ZBTB12; C6orf46; G10; NG35",
"gene_names_refseq": "Bat9; C6orf46; D6S59E; G10; NG35; ZBTB12",
"protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 12; Protein G10",
"protein_names_refseq": "HLA-B-associated transcript 9; zinc finger and BTB domain-containing protein 12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:221527)",
"pathway_count": 1,
"publication_count": 36,
"publication_id_list": "14656967;17693683;25576301;26992070;27869121;28228285;28834231;29393594;29557506;30315122;30379171;30484775;31077224;31092671;31217245;31530632;31844290;32157095;32161166;32350084;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;35051231;35494241;35580925;36010968;36215666;36241641;36284347;36759523",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; Results find ZBTB12 hypomethylation to be linked to shorter TNF-a stimulated whole blood coagulation time and increased WBC and granulocyte counts, further elucidating the possible link between ZBTB12 methylation and cardiovascular disease risk. Publication Status: Online-Only, [RefSeq, PubMed]; ZBTB12 is a molecular barrier to dedifferentiation in human pluripotent stem cells. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005654 nucleoplasm",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production",
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},
{
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{
"id": "ZNT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y6M5",
"type": "external"
}
],
"mass": 55300.0,
"length": 507,
"protein_name": "Proton-coupled zinc antiporter SLC30A1",
"gene_name": "SLC30A1",
"organism": "Human",
"refseq_name": "proton-coupled zinc antiporter SLC30A1",
"refseq_ac": [
{
"id": "NP_067017",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_067017",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC30A1; ZNT1",
"gene_names_refseq": "SLC30A1; ZNT1; ZRC1",
"protein_names_uniprotkb": "Proton-coupled zinc antiporter SLC30A1; Solute carrier family 30 member 1; Zinc transporter 1",
"protein_names_refseq": "proton-coupled zinc antiporter SLC30A1; solute carrier family 30 (zinc transporter), member 1; zinc resistance conferring homolog; zinc transporter 1; znT-1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7779); (R-HSA-435368)",
"pathway_count": 2,
"publication_count": 48,
"publication_id_list": "10.1038/emboj.2013.79;14662799;15276077;15451416;16179263;17081983;18158319;18669648;20068231;23584533;28218747;28467828;28832583;29242379;29437277;30573663;30893306;31471319;31611695;31844290;32157095;32161166;32350084;32441444;32776265;32938616;33912179;33996761;34087483;34357683;34433824;34725712;35051231;35083852;35154160;35251023;35494241;35580925;36204728;37217939;38103516;38665916;38669333;39111308;39390258;39422023;8617223;8962159",
"class_list": "",
"function": "AIDL cells exhibited a lower expression of zinc transporter 1 (ZnT1) and higher expression of ZnT3 than LNCaP cells., [RefSeq, PubMed]; Correlation analysis of ZnT-1 levels and senile plaque and neurofibrillary tangle counts of Alzheimer's disease showed a significant positive correlation, [RefSeq, PubMed]; Our findings therefore indicate that ZnT-1 modulates the permeation of cations through LTCC, thereby, regulating cation homeostasis through this pathway., [RefSeq, PubMed]; Structural insights into the calcium-coupled zinc export of human ZnT1., [RefSeq, PubMed]; Zinc ion:proton antiporter that could function at the plasma membrane mediating zinc efflux from cells against its electrochemical gradient protecting them from intracellular zinc accumulation and toxicity (PubMed:31471319, PubMed:33996761, PubMed:39422023, PubMed:39111308, PubMed:39390258). Alternatively, could prevent the transport to the plasma membrane of CACNB2, the L-type calcium channels regulatory subunit, through a yet to be defined mechanism. By modulating the expression of these channels at the plasma membrane, could prevent calcium and zinc influx into cells. By the same mechanism, could also prevent L-type calcium channels-mediated heavy metal influx into cells (By similarity). In some cells, could also function as a zinc ion:proton antiporter mediating zinc entry into the lumen of cytoplasmic vesicles. In macrophages, can increase zinc ions concentration into the lumen of cytoplasmic vesicles containing engulfed bacteria and could help inactivate them (PubMed:32441444). Forms a complex with TMC6/EVER1 and TMC8/EVER2 at the ER membrane of keratynocytes which facilitates zinc uptake into the ER (PubMed:18158319). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also functions as a copper transporter, facilitating the entry of copper into cells, which is crucial for copper-induced cell death (cuproptosis) (PubMed:39111308). Acts as a Zn(2+)/Ca(2+) exchanger, exporting zinc in exchange for calcium influx (PubMed:38669333)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Zinc transporter 1 expression in hepatocellular carcinoma correlates with prognosis: A single-center retrospective study., [RefSeq, PubMed]; Zinc transporter 1 functions in copper uptake and cuproptosis., [RefSeq, PubMed]",
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"function": "A first exon termination checkpoint preferentially suppresses extragenic transcription. GeneRIF: ZC3H4 controls termination of extragenic transcription in human and mouse cells. Cells depleted of ZC3H4 show greatly enhanced synthesis of long and spliced extragenic transcripts., [RefSeq, PubMed]; RNA-binding protein that suppresses transcription of long non-coding RNAs (lncRNAs) (PubMed:33767452, PubMed:33913806). LncRNAs are defined as transcripts more than 200 nucleotides that are not translated into protein (PubMed:33767452, PubMed:33913806). Together with WDR82, part of a transcription termination checkpoint that promotes transcription termination of lncRNAs and their subsequent degradation by the exosome (PubMed:33767452, PubMed:33913806). The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs (PubMed:33767452)., [UniProtKB, PubMed, PubMed]; RNA-binding protein that suppresses transcription of long non-coding RNAs (lncRNAs). LncRNAs are defined as transcripts more than 200 nucleotides that are not translated into protein. Together with WDR82, part of a transcription termination checkpoint that promotes transcription termination of lncRNAs and their subsequent degradation by the exosome. The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs., [UniProtKB, UniProtKB]; This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]., [RefSeq]; ZC3H4 restricts non-coding transcription in human cells. Publication Status: Online-Only, [RefSeq, PubMed]; ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters., [RefSeq, PubMed]",
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],
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"disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); myelodysplastic syndrome (Disease Ontology:DOID:0050908); congestive heart failure (Disease Ontology:DOID:6000); acute myeloid leukemia (Disease Ontology:DOID:9119)",
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{
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"id": "NP_001185828",
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"protein_names_refseq": "YY1-associated protein 1 isoform 1; hepatocellular carcinoma susceptibility protein; hepatocellular carcinoma-associated protein 2",
"tax_id": 9606,
"disease": "salivary gland cancer (Disease Ontology:DOID:8850); grange syndrome (MONDO:MONDO:0011243)",
"pathway": " (hsa:55249)",
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"function": "Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641)., [UniProtKB, PubMed, PubMed, PubMed]; CUL4A promotes proliferation and inhibits apoptosis of colon cancer cells via regulating Hippo pathway., [RefSeq, PubMed]; Human liver cancer associated gene, [RefSeq, PubMed]; KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP., [RefSeq, PubMed]; Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; YY1AP is a novel co-activator of YY1, [RefSeq, PubMed]",
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"tax_id": 9606,
"disease": "breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); invasive ductal carcinoma (Disease Ontology:DOID:3008); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); Nijmegen breakage syndrome-like disorder (MONDO:MONDO:0013118)",
"pathway": " (hsa:10111); (R-HSA-2559586); (R-HSA-5685938); (R-HSA-5685939); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693548); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)",
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"function": "Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres., [RefSeq, PubMed]; Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants., [RefSeq, PubMed]; Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28134932, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage (PubMed:15064416, PubMed:27889449, PubMed:28867292, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination (PubMed:11741547, PubMed:9590181, PubMed:9651580, PubMed:9705271). Within the complex, RAD50 is both required to bind DNA ends and hold them in close proximity and regulate the activity of MRE11 (PubMed:11741547, PubMed:12805565, PubMed:28134932). RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible MRE11 nuclease sites into a closed form (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR (PubMed:15064416, PubMed:15790808, PubMed:16622404). The MRN complex is also required for the processing of R-loops (PubMed:31537797). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Silencing TRIM29 Sensitizes Non-small Cell Lung Cancer Cells to Anlotinib by Promoting Apoptosis via Binding RAD50., [RefSeq, PubMed]; Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]., [RefSeq]",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016604 nuclear body",
"go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0000723 telomere maintenance;GO:0006974 DNA damage response;GO:0006302 double-strand break repair",
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{
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{
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"mass": 43182.0,
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"protein_name": "NAD-dependent protein deacetylase sirtuin-2",
"gene_name": "SIRT2",
"organism": "Human",
"refseq_name": "NAD-dependent protein deacetylase sirtuin-2 isoform 1",
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{
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"gene_names_refseq": "SIR2L2; SIR2L; SIR2; SIRT2",
"protein_names_uniprotkb": "NAD-dependent protein deacetylase sirtuin-2; 2.3.1.-; 2.3.1.286; NAD-dependent protein deacylase sirtuin-2; NAD-dependent protein defatty-acylase sirtuin-2; Regulatory protein SIR2 homolog 2; SIR2-like protein 2",
"protein_names_refseq": "NAD-dependent deacetylase sirtuin-2; NAD-dependent protein deacetylase sirtuin-2 isoform 1; NAD-dependent protein deacetylase sirtuin-2; NAD-dependent protein deacylase sirtuin-2; NAD-dependent protein defatty-acylase sirtuin-2; SIR2-like protein 2; regulatory protein SIR2 homolog 2; silent information regulator 2; sir2-related protein type 2; sirtuin type 2",
"tax_id": 9606,
"disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); high grade glioma (Disease Ontology:DOID:3070); intermittent claudication (Disease Ontology:DOID:3669); cocaine dependence (Disease Ontology:DOID:9975)",
"pathway": " (hsa:22933); (R-HSA-2995383)",
"pathway_count": 2,
"publication_count": 97,
"publication_id_list": "10381378;10393250;10931946;11226170;11237011;11427894;11483616;11812793;12065666;12620231;12697818;12963026;15213244;16079181;16247014;16648462;16909107;17081983;17488717;17516032;17574768;17726514;18249187;18332217;18510355;18628300;18640115;18669648;18722353;18995842;19282667;19413330;19531498;19620630;19651622;20068231;20166139;20543840;20576617;20587414;20711181;21081649;21726808;21791548;21795390;21949390;22014574;22770216;22771473;22819792;22943040;23186163;23454361;23468428;23806683;23908241;23932781;24177535;24275569;24389023;24446434;24681946;24769394;24940000;24996174;25576301;25645385;25672491;25704306;27512957;27846572;27875273;28228285;28832583;28855257;28904123;29239724;29242379;29557506;30154464;31844290;32103017;32157095;32938616;33298915;34961760;35051231;35318648;35580925;36284347;37938771;38360128;38554113;38647411;39214297;39425454;40914422",
"class_list": "",
"function": "Biophysical insights into the dimer formation of human Sirtuin 2., [RefSeq, PubMed]; Deacetylates EP300, alpha-tubulin and histone H3 and H4., [UniProtKB, PubMed]; Lacks deacetylation activity, at least toward known SIRT2 targets., [UniProtKB, PubMed]; Multifaceted regulation of sirtuin 2 (Sirt2) deacetylase activity., [RefSeq, PubMed]; NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors (PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20543840, PubMed:20587414, PubMed:21081649, PubMed:21726808, PubMed:21949390, PubMed:22014574, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24177535, PubMed:24681946, PubMed:24769394, PubMed:24940000). Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy (PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20543840, PubMed:20587414, PubMed:21081649, PubMed:21726808, PubMed:21949390, PubMed:22014574, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24177535, PubMed:24681946, PubMed:24769394, PubMed:24940000). Plays a major role in the control of cell cycle progression and genomic stability (PubMed:12697818, PubMed:16909107, PubMed:17488717, PubMed:17726514, PubMed:19282667, PubMed:23468428). Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtubule stress agents, and hence allowing proper inheritance of chromosomes (PubMed:12697818, PubMed:16909107, PubMed:17488717, PubMed:17726514, PubMed:19282667, PubMed:23468428). Positively regulates the anaphase promoting complex/cyclosome (APC/C) ubiquitin ligase complex activity by deacetylating CDC20 and FZR1, then allowing progression through mitosis (PubMed:22014574). Associates both with chromatin at transcriptional start sites (TSSs) and enhancers of active genes (PubMed:23468428). Plays a role in cell cycle and chromatin compaction through epigenetic modulation of the regulation of histone H4 'Lys-20' methylation (H4K20me1) during early mitosis (PubMed:23468428). Specifically deacetylates histone H4 at 'Lys-16' (H4K16ac) between the G2/M transition and metaphase enabling H4K20me1 deposition by KMT5A leading to ulterior levels of H4K20me2 and H4K20me3 deposition throughout cell cycle, and mitotic S-phase progression (PubMed:23468428). Deacetylates KMT5A modulating KMT5A chromatin localization during the mitotic stress response (PubMed:23468428). Also deacetylates histone H3 at 'Lys-57' (H3K56ac) during the mitotic G2/M transition (PubMed:20587414). Upon bacterium Listeria monocytogenes infection, deacetylates 'Lys-18' of histone H3 in a receptor tyrosine kinase MET- and PI3K/Akt-dependent manner, thereby inhibiting transcriptional activity and promoting late stages of listeria infection (PubMed:23908241). During oocyte meiosis progression, may deacetylate histone H4 at 'Lys-16' (H4K16ac) and alpha-tubulin, regulating spindle assembly and chromosome alignment by influencing microtubule dynamics and kinetochore function (PubMed:24940000). Deacetylates histone H4 at 'Lys-16' (H4K16ac) at the VEGFA promoter and thereby contributes to regulate expression of VEGFA, a key regulator of angiogenesis (PubMed:24940000). Deacetylates alpha-tubulin at 'Lys-40' and hence controls neuronal motility, oligodendroglial cell arbor projection processes and proliferation of non-neuronal cells (PubMed:18332217, PubMed:18995842). Phosphorylation at Ser-368 by a G1/S-specific cyclin E-CDK2 complex inactivates SIRT2-mediated alpha-tubulin deacetylation, negatively regulating cell adhesion, cell migration and neurite outgrowth during neuronal differentiation (PubMed:17488717). Deacetylates PARD3 and participates in the regulation of Schwann cell peripheral myelination formation during early postnatal development and during postinjury remyelination (PubMed:21949390). Involved in several cellular metabolic pathways (PubMed:20543840, PubMed:21726808, PubMed:24769394). Plays a role in the regulation of blood glucose homeostasis by deacetylating and stabilizing phosphoenolpyruvate carboxykinase PCK1 activity in response to low nutrient availability (PubMed:21726808). Acts as a key regulator in the pentose phosphate pathway (PPP) by deacetylating and activating the glucose-6-phosphate G6PD enzyme, and therefore, stimulates the production of cytosolic NADPH to counteract oxidative damage (PubMed:24769394). Maintains energy homeostasis in response to nutrient deprivation as well as energy expenditure by inhibiting adipogenesis and promoting lipolysis (PubMed:20543840). Attenuates adipocyte differentiation by deacetylating and promoting FOXO1 interaction to PPARG and subsequent repression of PPARG-dependent transcriptional activity (PubMed:20543840). Plays a role in the regulation of lysosome-mediated degradation of protein aggregates by autophagy in neuronal cells (PubMed:20543840). Deacetylates FOXO1 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagy (PubMed:20543840). Deacetylates a broad range of transcription factors and co-regulators regulating target gene expression. Deacetylates transcriptional factor FOXO3 stimulating the ubiquitin ligase SCF(SKP2)-mediated FOXO3 ubiquitination and degradation (By similarity). Deacetylates HIF1A and therefore promotes HIF1A degradation and inhibition of HIF1A transcriptional activity in tumor cells in response to hypoxia (PubMed:24681946). Deacetylates RELA in the cytoplasm inhibiting NF-kappaB-dependent transcription activation upon TNF stimulation (PubMed:21081649). Inhibits transcriptional activation by deacetylating p53/TP53 and EP300 (PubMed:18249187, PubMed:18995842). Also deacetylates EIF5A (PubMed:22771473). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by recognizing other acyl groups: catalyzes removal of N(6)-benzoyl (benzoyl) and N(6)-methacryl (methacryl) acyl groups from lysine residues, leading to histone debenzoylation and demethacrylation, respectively (PubMed:30154464, PubMed:34961760). Functions as a negative regulator on oxidative stress-tolerance in response to anoxia-reoxygenation conditions (PubMed:24769394). Plays a role as tumor suppressor (PubMed:22014574). In addition to protein deacetylase activity, also has activity toward long-chain fatty acyl groups and mediates protein-lysine demyristoylation and depalmitoylation of target proteins, such as ARF6 and KRAS, thereby regulating their association with membranes (PubMed:25704306, PubMed:29239724, PubMed:32103017)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SIRT2 deacetylates and decreases the expression of FOXM1 in colon cancer., [RefSeq, PubMed]; SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner., [RefSeq, PubMed]; Silent information regulator 2 deficiency exacerbates chronic cold exposure-induced colonic injury and p65 activation in mice., [RefSeq, PubMed]; This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]., [RefSeq]",
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"reported_phosphosites": 15,
"reported_mutagensis": 25,
"reported_glycation": 0,
"reported_snv": 6,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 4,
"glyco_site_count": 0,
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"secondary_ac_list": "A8K3V1;B2RB45;O95889;Q924Y7;Q9P0G8;Q9UNT0;Q9Y6E9;U5TP13",
"ec_number_list": [
{
"id": "2.3.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
"type": "external"
},
{
"id": "2.3.1.286",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286",
"type": "external"
},
{
"id": "2.4.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-",
"type": "external"
}
],
"go_molecular_function": "GO:0046970 histone H4K16 deacetylase activity, NAD-dependent;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0070403 NAD+ binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion",
"go_biological_process": "GO:0045836 positive regulation of meiotic nuclear division;GO:0061433 cellular response to caloric restriction;GO:0070446 negative regulation of oligodendrocyte progenitor proliferation;GO:0031509 subtelomeric heterochromatin formation;GO:0000122 negative regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 10.0,
"record_id": "Q8IXJ6-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P62952-1",
"uniprot_id": [
{
"id": "BLCAP_HUMAN",
"url": "https://www.uniprot.org/uniprot/P62952",
"type": "external"
}
],
"mass": 9876.0,
"length": 87,
"protein_name": "Apoptosis inducing factor BLCAP",
"gene_name": "BLCAP",
"organism": "Human",
"refseq_name": "apoptosis inducing factor BLCAP",
"refseq_ac": [
{
"id": "NP_001161292",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161292",
"type": "external"
}
],
"gene_names_uniprotkb": "BLCAP; BC10",
"gene_names_refseq": "BC10; BLCAP",
"protein_names_uniprotkb": "Apoptosis inducing factor BLCAP; Bc10; Bladder cancer 10 kDa protein; Bladder cancer-associated protein",
"protein_names_refseq": "apoptosis inducing factor BLCAP; bladder cancer associated protein; bladder cancer related protein (10kD)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10904)",
"pathway_count": 1,
"publication_count": 40,
"publication_id_list": "10197429;11072240;11237011;16675915;17031575;18836209;19783793;19908260;21844121;22969892;23481700;24715725;25576301;25645385;26154972;26986503;27846572;27862975;28832583;29190807;29242379;29508533;29557506;29632711;29786170;30315122;30429286;30683807;31154438;31844290;31848261;31937595;32157095;32502341;33141586;33298915;33936100;34171305;34211107;35051231",
"class_list": "",
"function": "Acts as a tumor suppressor; induces growth arrest at G(1)/S checkpoint and apoptosis via RB1-dependent and p53/TP53- and NF-kappa-B-independent mechanisms (PubMed:16675915, PubMed:17031575, PubMed:21844121, PubMed:26986503). Modulates expression of genes involved in the regulation of proliferation, cell cycle and apoptosis (PubMed:17031575, PubMed:21844121, PubMed:26986503)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Blcap is imprinted in mouse and human brain, but not in other mouse tissues., [RefSeq, PubMed]; Data indicates that Blcap is a novel Stat3 interaction partner and suggests a role for Blcap in the Stat3-mediated progression of precancerous lesions to invasive tumors of the bladder Publication Status: Online-Only, [RefSeq, PubMed]; MALAT1 regulates BLCAP mRNA expression through binding to miR-339-5p. Publication Status: Online-Only, [RefSeq, PubMed]; Observed a general decrease in BLCAP-editing level in astrocytomas, bladder cancer and colorectal cancer when compared with the related normal tissues, [RefSeq, PubMed]; This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]., [RefSeq]",
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "prognostic",
"glycan_count": 0,
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"secondary_ac_list": "A2A2K7;O60629;Q9D3B5",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane",
"go_biological_process": "GO:0030262 apoptotic nuclear changes",
"synthesized_glycan_count": 0,
"hit_score": 4.1,
"record_id": "P62952-1",
"record_type": "protein",
"filter_code": "0001000.1100101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H6U6-1",
"uniprot_id": [
{
"id": "BCAS3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H6U6",
"type": "external"
}
],
"mass": 101237.0,
"length": 928,
"protein_name": "BCAS3 microtubule associated cell migration factor",
"gene_name": "BCAS3",
"organism": "Human",
"refseq_name": "BCAS3 microtubule associated cell migration factor isoform 1",
"refseq_ac": [
{
"id": "NP_001092902",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092902",
"type": "external"
}
],
"gene_names_uniprotkb": "BCAS3",
"gene_names_refseq": "BCAS3; GAOB1; HEMARS; MAAB; PHAF2",
"protein_names_uniprotkb": "BCAS3 microtubule associated cell migration factor; Breast carcinoma-amplified sequence 3; GAOB1",
"protein_names_refseq": "BCAS3 microtubule associated cell migration factor isoform 1; BCAS4/BCAS3 fusion; Rudhira; breast carcinoma amplified sequence 4/3 fusion protein; breast carcinoma-amplified sequence 3; metastasis associated antigen of breast cancer; phagophore assembly factor 2; protein Maab1",
"tax_id": 9606,
"disease": "Hengel-Maroofian-Schols syndrome (Disease Ontology:DOID:0070408); breast cancer (Disease Ontology:DOID:1612)",
"pathway": " (hsa:54828)",
"pathway_count": 1,
"publication_count": 47,
"publication_id_list": "11237011;12378525;16099728;16617102;16855396;17505058;18030336;18669648;19690332;22300583;23186163;25114211;26811146;26992070;27846572;28904123;29493099;29557506;30379171;31844290;32157095;32265295;32350084;32357974;32387766;32488085;33298915;33499712;33592498;33912179;33968037;34019948;34022130;34071541;34171305;34185709;34240781;34561969;35051231;35494241;35580925;35659972;36010968;36241641;36284347;37938771;39302247",
"class_list": "",
"function": "BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45alpha signaling pathway., [RefSeq, PubMed]; BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer., [RefSeq, PubMed]; BCAS3 is mis-expressed in brain tumors and could serve as a human ES cell and tumor marker Publication Status: Online-Only, [RefSeq, PubMed]; BCAS3 overexpression in hormone receptor-positive premenopausal breast cancer seemed to be associated with impaired responses to tamoxifen, [RefSeq, PubMed]; Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder., [RefSeq, PubMed]; Physically associated with histone H3 and histone acetyltransferase complex protein P/CAF (p300/CBP-associated factor) and possesses histone acetyltransferase activity. Erratum:[Mol Endocrinol. 2013 May;27(5):862], [RefSeq, PubMed]; Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. Plays a regulatory role in autophagic activity. In complex with PHAF1, associates with the preautophagosomal structure during both non-selective and selective autophagy (PubMed:33499712). Probably binds phosphatidylinositol 3-phosphate (PtdIns3P) which would mediate the recruitment preautophagosomal structures (PubMed:33499712)., [UniProtKB, UniProtKB, PubMed, PubMed]; Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. Publication Status: Online-Only, [RefSeq, PubMed]; Role for MTA1-BCAS3 pathway in promoting cancerous phenotypes in breast tumor cells Erratum:[Proc Natl Acad Sci U S A. 2013 Mar 5;110(10):4147-8], [RefSeq, PubMed]",
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"biomarker_type": "",
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"secondary_ac_list": "Q17RM0;Q6KF21;Q8IXI6;Q8NDR8;Q8TDL9;Q8TDM1;Q8WY55;Q9BVF0;Q9H957;Q9H9Y9;Q9NXP4",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding;GO:0048487 beta-tubulin binding;GO:0035091 phosphatidylinositol binding;GO:0016922 nuclear receptor binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031252 cell leading edge;GO:0045111 intermediate filament cytoskeleton;GO:0005881 cytoplasmic microtubule",
"go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0007267 cell-cell signaling;GO:0032956 regulation of actin cytoskeleton organization;GO:0042594 response to starvation",
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"hit_score": 5.0,
"record_id": "Q9H6U6-1",
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"filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96I25-1",
"uniprot_id": [
{
"id": "SPF45_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96I25",
"type": "external"
}
],
"mass": 44962.0,
"length": 401,
"protein_name": "Splicing factor 45",
"gene_name": "RBM17",
"organism": "Human",
"refseq_name": "splicing factor 45",
"refseq_ac": [
{
"id": "NP_001139019",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139019",
"type": "external"
}
],
"gene_names_uniprotkb": "RBM17; SPF45",
"gene_names_refseq": "RBM17; SPF45",
"protein_names_uniprotkb": "Splicing factor 45; 45 kDa-splicing factor; RNA-binding motif protein 17",
"protein_names_refseq": "45 kDa-splicing factor; splicing factor 45kDa; splicing factor 45",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84991); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)",
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"class_list": "",
"function": "AKT1 phosphorylates RBM17 to promote Sox2 transcription by modulating alternative splicing of FOXM1 to enhance cancer stem cell properties in colorectal cancer cells., [RefSeq, PubMed]; Overexpression of SPF45 in HeLa, a cervical carcinoma cell line, resulted in drug resistance to doxorubicin and vincristine, [RefSeq, PubMed]; Resistance to various chemotherapeutics resulting from stable transfection of RBM17 (SPF45) in A2780 ovarian carcinoma cells may be due to effects of SPF45 on transcription and splicing of ERbeta-regulated genes., [RefSeq, PubMed]; SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns., [RefSeq, PubMed]; Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia., [UniProtKB, PubMed, PubMed]; The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]., [RefSeq]",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex",
"go_biological_process": "GO:0000380 alternative mRNA splicing, via spliceosome;GO:0045292 mRNA cis splicing, via spliceosome",
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},
{
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"uniprot_id": [
{
"id": "SYBU_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NX95",
"type": "external"
}
],
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"length": 663,
"protein_name": "Syntabulin",
"gene_name": "SYBU",
"organism": "Human",
"refseq_name": "syntabulin isoform b",
"refseq_ac": [
{
"id": "NP_001093213",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093213",
"type": "external"
}
],
"gene_names_uniprotkb": "SYBU; GOLSYN; KIAA1472",
"gene_names_refseq": "GOLSYN; OCSYN; SNPHL; SYBU",
"protein_names_uniprotkb": "Syntabulin; Golgi-localized syntaphilin-related protein; Syntaxin-1-binding protein",
"protein_names_refseq": "GOLSYN A protein; GOLSYN B protein; GOLSYN C protein; Golgi-localized protein; golgi-localized syntaphilin-related protein; implicated in syntaxin trafficking in neurons; microtubule-associated protein; syntabulin (syntaxin-interacting); syntabulin isoform b; syntaxin-1-binding protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55638)",
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"class_list": "",
"function": "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., [UniProtKB, PubMed]; Syntabulin forms a complex with PICK1 and ASICs, regulates ASIC protein expression in neurons, and participates in ASIC-induced acidotoxicity. Publication Status: Online-Only, [RefSeq, PubMed]; Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]., [RefSeq]",
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"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0031410 cytoplasmic vesicle;GO:1904115 axon cytoplasm;GO:0005881 cytoplasmic microtubule",
"go_biological_process": "GO:0060074 synapse maturation;GO:0019896 axonal transport of mitochondrion",
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},
{
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{
"id": "BUB1B_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60566",
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],
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"protein_name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
"gene_name": "BUB1B",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "BUB1B; BUBR1; MAD3L; SSK1",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta; 2.7.11.1; MAD3/BUB1-related protein kinase; Mitotic checkpoint kinase MAD3L; Protein SSK1; hBUBR1",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "mosaic variegated aneuploidy syndrome 1 (Disease Ontology:DOID:0080141); tongue carcinoma (Disease Ontology:DOID:0080641); mosaic variegated aneuploidy syndrome (Disease Ontology:DOID:0080688); pancreatic cancer (Disease Ontology:DOID:1793); gallbladder cancer (Disease Ontology:DOID:3121); colorectal cancer (Disease Ontology:DOID:9256); premature chromatid separation trait (MONDO:MONDO:0008304)",
"pathway": " (hsa:701); (R-HSA-141430); (R-HSA-141444); (R-HSA-174184); (R-HSA-176409); (R-HSA-179409); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)",
"pathway_count": 11,
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"class_list": "",
"function": "Component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle (PubMed:27509861). The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint (PubMed:11702782, PubMed:14706340, PubMed:15020684, PubMed:27509861). The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition (PubMed:10477750, PubMed:27509861). When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase (PubMed:27509861). MCC also monitors kinetochore activities that depend on the kinetochore motor CENPE (PubMed:15020684). Required for kinetochore localization of CENPE (PubMed:15020684). Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification (PubMed:19503101). May play a role for tumor suppression (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]",
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "2.7.11.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12",
"type": "external"
},
{
"id": "2.7.11.17",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17",
"type": "external"
},
{
"id": "2.7.11.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8",
"type": "external"
},
{
"id": "3.4.22.49",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49",
"type": "external"
},
{
"id": "2.7.11.19",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19",
"type": "external"
},
{
"id": "4.1.1.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32",
"type": "external"
},
{
"id": "3.6.4.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12",
"type": "external"
},
{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
"type": "external"
},
{
"id": "2.7.11.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
"type": "external"
}
],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol",
"go_biological_process": "GO:0051301 cell division;GO:0006915 apoptotic process;GO:0051754 meiotic sister chromatid cohesion, centromeric;GO:0007094 mitotic spindle assembly checkpoint signaling",
"synthesized_glycan_count": 0,
"hit_score": 24.2,
"record_id": "O60566-1",
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},
{
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"uniprot_id": [
{
"id": "F118B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BPY3",
"type": "external"
}
],
"mass": 39499.0,
"length": 351,
"protein_name": "Protein FAM118B",
"gene_name": "FAM118B",
"organism": "Human",
"refseq_name": "protein FAM118B isoform 1",
"refseq_ac": [
{
"id": "NP_078832",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_078832",
"type": "external"
}
],
"gene_names_uniprotkb": "FAM118B",
"gene_names_refseq": "FAM118B; SIRAL1; SIRal",
"protein_names_uniprotkb": "Protein FAM118B",
"protein_names_refseq": "family with sequence similarity 118 member B; protein FAM118B isoform 1; protein FAM118B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79607)",
"pathway_count": 1,
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"class_list": "",
"function": "May play a role in Cajal bodies formation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas., [RefSeq, PubMed]",
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"secondary_ac_list": "Q9H7B0",
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"go_molecular_function": "GO:0042802 identical protein binding",
"go_cellular_component": "GO:0015030 Cajal body",
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},
{
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{
"id": "HSBP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75506",
"type": "external"
}
],
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"protein_name": "Heat shock factor-binding protein 1",
"gene_name": "HSBP1",
"organism": "Human",
"refseq_name": "heat shock factor-binding protein 1",
"refseq_ac": [
{
"id": "NP_001528",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001528",
"type": "external"
}
],
"gene_names_uniprotkb": "HSBP1; HSF1BP",
"gene_names_refseq": "HSBP1; NPC-A-13",
"protein_names_uniprotkb": "Heat shock factor-binding protein 1; NPC-A-13; Nasopharyngeal carcinoma-associated antigen 13",
"protein_names_refseq": "heat shock factor-binding protein 1; nasopharyngeal carcinoma-associated antigen 13",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:3281); (R-HSA-3371511); (R-HSA-3371568); (R-HSA-3371571)",
"pathway_count": 4,
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"publication_id_list": "11237011;11447121;11583998;11679589;14654843;15270074;15702990;15760475;1607379;1628823;17216044;17785525;18669648;18767159;19229036;20068231;21247889;22768106;24366607;25576301;26992070;27920218;28218747;28657654;29242379;29393594;29508533;29557506;30192525;30315122;30410026;30429286;31530632;31844290;31848261;32157095;32398961;32938616;33592498;33691108;33912179;33968037;33981976;35580925;36010968;36241641;8065924;8455624;9222609;9499401;9649501;9727490",
"class_list": "",
"function": "HSBP likely mediates its function through its trimerization domain., [RefSeq, PubMed]; HspBP1 inhibited the cytotoxic activity of the Tag7-Hsp70 complex secreted by lymphocytes. HspBP1, [RefSeq, PubMed]; Lin28A Regulates Stem-like Properties of Ovarian Cancer Cells by Enriching RAN and HSBP1 mRNA and Up-regulating its Protein Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]., [RefSeq]; This study reports the crystal structure of a degradation-resistant fragment of HSBP1. A continuous, long-helix conformation of HSBP1 assembles into a coiled-coil three-helix bundle and subsequently into an elongated, symmetrical hexamer., [RefSeq, PubMed]",
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"secondary_ac_list": "Q53XA8;Q7Z5Z3",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:1904115 axon cytoplasm",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006936 muscle contraction;GO:0019896 axonal transport of mitochondrion;GO:0070370 cellular heat acclimation",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O43809-1",
"uniprot_id": [
{
"id": "CPSF5_HUMAN",
"url": "https://www.uniprot.org/uniprot/O43809",
"type": "external"
}
],
"mass": 26227.0,
"length": 227,
"protein_name": "Cleavage and polyadenylation specificity factor subunit 5",
"gene_name": "NUDT21",
"organism": "Human",
"refseq_name": "cleavage and polyadenylation specificity factor subunit 5",
"refseq_ac": [
{
"id": "NP_008937",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937",
"type": "external"
}
],
"gene_names_uniprotkb": "NUDT21; CFIM25; CPSF25; CPSF5",
"gene_names_refseq": "CFIM25; CPSF5; NUDT21",
"protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 5; CFIm25; CPSF 25 kDa subunit; Cleavage and polyadenylation specificity factor 25 kDa subunit; Cleavage factor Im complex 25 kDa subunit; Nucleoside diphosphate-linked moiety X motif 21; Nudix hydrolase 21; Nudix motif 21; Pre-mRNA cleavage factor Im 68 kDa subunit",
"protein_names_refseq": "CPSF 25 kDa subunit; cleavage and polyadenylation specific factor 5, 25 kD subunit; cleavage and polyadenylation specific factor 5, 25 kDa; cleavage and polyadenylation specificity factor 25 kDa subunit; cleavage and polyadenylation specificity factor subunit 5; cleavage factor Im complex 25 kDa subunit; nucleoside diphosphate-linked moiety X motif 21; nudix (nucleoside diphosphate linked moiety X)-type motif 21; nudix motif 21; pre-mRNA cleavage factor Im (25kD); pre-mRNA cleavage factor Im 25 kDa subunit; pre-mRNA cleavage factor Im 68 kDa subunit; pre-mRNA cleavage factor Im, 25kD subunit",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11051); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)",
"pathway_count": 6,
"publication_count": 155,
"publication_id_list": "10669729;11060040;11237011;11747608;11979277;12871933;14519844;14561889;14690600;14749727;14762106;15037765;15084397;15169763;15565158;15592455;15937220;15998806;17024186;17098938;17128255;17172643;17190602;17984224;18288197;18411249;18445629;18767156;18957205;19217410;19608861;19836239;19864460;20068231;20479262;20573985;20695905;20844015;21295486;21654843;21911577;21947206;22009320;22121020;22207203;22813749;22928037;23187700;23222130;23299939;23874216;24076191;24129315;24149845;24244187;24715725;25301780;25301781;25418920;25469497;25576301;25645385;25662211;25802875;25836925;25880248;26092250;26154972;26811146;26929215;26992070;27108190;27862975;27920218;28096519;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29276085;29331515;29393594;29437277;29493099;29507755;29557506;29632046;29632711;29786170;29789417;29902443;30139799;30257008;30315122;30379171;30410026;30429286;30599162;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32816001;32897882;32938616;32983136;33043033;33123756;33141586;33177556;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34932366;35051231;35177536;35215846;35318648;35561310;35580925;36010968;36241641;36284347;37938771;37999979;38195952;38322593;38349866;38665916;40914422;8626397;9659921",
"class_list": "",
"function": "Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:14690600, PubMed:15937220, PubMed:17024186, PubMed:17098938, PubMed:29276085, PubMed:8626397, PubMed:9659921). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:14690600, PubMed:17024186, PubMed:8626397, PubMed:9659921). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:17098938, PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:17098938, PubMed:20695905, PubMed:29276085). NUDT21/CPSF5 activates indirectly the mRNA 3'-processing machinery by recruiting CPSF6 and/or CPSF7 (PubMed:29276085). Binds to 5'-UGUA-3' elements localized upstream of pA signals that act as enhancers of pre-mRNA 3'-end processing (PubMed:14690600, PubMed:15169763, PubMed:17024186, PubMed:20479262, PubMed:22813749, PubMed:8626397). The homodimer mediates simultaneous sequence-specific recognition of two 5'-UGUA-3' elements within the pre-mRNA (PubMed:20479262, PubMed:21295486). Plays a role in somatic cell fate transitions and pluripotency by regulating widespread changes in gene expression through an APA-dependent function (By similarity). Binds to chromatin (By similarity). Binds to, but does not hydrolyze mono- and di-adenosine nucleotides (PubMed:18445629)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation., [RefSeq, PubMed]; NUDT21 interacts with NDUFS2 to activate the PI3K/AKT pathway and promotes pancreatic cancer pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer analysis of NUDT21 and its effect on the proliferation of human head and neck squamous cell carcinoma., [RefSeq, PubMed]; Predictive Value of CFIm25 Expression in Peripheral Blood Monocytes for Coronary Atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q6IB85;Q6NE84",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0016604 nuclear body",
"go_biological_process": "GO:0006397 mRNA processing;GO:0030154 cell differentiation;GO:0051262 protein tetramerization;GO:0010608 post-transcriptional regulation of gene expression;GO:0051290 protein heterotetramerization",
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"hit_score": 15.8,
"record_id": "O43809-1",
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"filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P04629-1",
"uniprot_id": [
{
"id": "NTRK1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P04629",
"type": "external"
}
],
"mass": 87497.0,
"length": 796,
"protein_name": "High affinity nerve growth factor receptor",
"gene_name": "NTRK1",
"organism": "Human",
"refseq_name": "high affinity nerve growth factor receptor isoform 3",
"refseq_ac": [
{
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"type": "external"
}
],
"gene_names_uniprotkb": "NTRK1; MTC; TRKA; TRK",
"gene_names_refseq": "MTC; NTRK1; TRK1; TRKA; TRK; Trk-A; p140-TrkA",
"protein_names_uniprotkb": "High affinity nerve growth factor receptor; 2.7.10.1; Neurotrophic tyrosine kinase receptor type 1; TRK1-transforming tyrosine kinase protein; Trk-A; Tropomyosin-related kinase A; Tyrosine kinase receptor A; Tyrosine kinase receptor; gp140trk; p140-TrkA",
"protein_names_refseq": "Oncogene TRK; TRK1-transforming tyrosine kinase protein; gp140trk; high affinity nerve growth factor receptor isoform 3; high affinity nerve growth factor receptor; neurotrophic tyrosine kinase, receptor, type 1; tropomyosin receptor kinase A; tropomyosin-related kinase A; tyrosine kinase receptor A",
"tax_id": 9606,
"disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); obstructive sleep apnea (Disease Ontology:DOID:0050848); colitis (Disease Ontology:DOID:0060180); congenital insensitivity to pain with anhidrosis (Disease Ontology:DOID:0070146); Parkinsonism (Disease Ontology:DOID:0080855); Hirschsprung's disease (Disease Ontology:DOID:10487); Alzheimer's disease (Disease Ontology:DOID:10652); pulmonary sarcoidosis (Disease Ontology:DOID:13406); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); myofascial pain syndrome (Disease Ontology:DOID:431); rhinitis (Disease Ontology:DOID:4483); retinal detachment (Disease Ontology:DOID:5327); schizophrenia (Disease Ontology:DOID:5419); neuroblastoma (Disease Ontology:DOID:769); periodontitis (Disease Ontology:DOID:824); diabetic neuropathy (Disease Ontology:DOID:9743)",
"pathway": " (hsa:4914); (R-HSA-1257604); (R-HSA-167021); (R-HSA-167044); (R-HSA-170984); (R-HSA-177504); (R-HSA-187024); (R-HSA-187042); (R-HSA-187706); (R-HSA-198203); (R-HSA-198745)",
"pathway_count": 11,
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"function": "Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model., [RefSeq, PubMed]; DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81 and NTRK1 in endometrial hyperplasia., [RefSeq, PubMed]; Molecular Characterization and Inhibition of a Novel Stress-Induced Mitochondrial Protecting Role for Misfolded TrkAIII in Human SH-SY5Y Neuroblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Neurotrophic tyrosine receptor kinase gene fusions in adult and pediatric patients with solid tumors: a clinicogenomic biobank and record linkage study of expression frequency and patient characteristics from Finland. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1281417, PubMed:15488758, PubMed:17196528, PubMed:1849459, PubMed:1850821, PubMed:22649032, PubMed:27445338, PubMed:8325889). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:1281417). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed., [UniProtKB, PubMed]; This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"reported_snv": 157,
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"secondary_ac_list": "B2R6T5;B7ZM34;P08119;Q15655;Q15656;Q5D056;Q5VZS2;Q7Z5C3;Q9UIU7",
"ec_number_list": [
{
"id": "2.7.12.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2",
"type": "external"
},
{
"id": "2.7.10.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1",
"type": "external"
},
{
"id": "2.7.10.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2",
"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "2.7.12.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1",
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{
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},
{
"id": "3.1.4.11",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11",
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32",
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},
{
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},
{
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},
{
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{
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{
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23",
"type": "external"
}
],
"go_molecular_function": "GO:0048406 nerve growth factor binding;GO:0043121 neurotrophin binding;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon",
"go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0021553 olfactory nerve development;GO:0006468 protein phosphorylation;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007283 spermatogenesis",
"synthesized_glycan_count": 0,
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"record_id": "P04629-1",
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},
{
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{
"id": "LTBP4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N2S1",
"type": "external"
}
],
"mass": 173435.0,
"length": 1624,
"protein_name": "Latent-transforming growth factor beta-binding protein 4",
"gene_name": "LTBP4",
"organism": "Human",
"refseq_name": "latent-transforming growth factor beta-binding protein 4 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001036009",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036009",
"type": "external"
}
],
"gene_names_uniprotkb": "LTBP4",
"gene_names_refseq": "ARCL1C; LTBP-4; LTBP4L; LTBP4S; LTBP4",
"protein_names_uniprotkb": "Latent-transforming growth factor beta-binding protein 4; LTBP-4",
"protein_names_refseq": "latent transforming growth factor-beta binding protein 4L; latent-transforming growth factor beta-binding protein 4 isoform a precursor",
"tax_id": 9606,
"disease": "autosomal recessive cutis laxa type IC (Disease Ontology:DOID:0070139); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); cutis laxa (Disease Ontology:DOID:3144)",
"pathway": " (hsa:8425); (R-HSA-2129379); (R-HSA-2173789)",
"pathway_count": 3,
"publication_count": 79,
"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10025398;10424889;10544250;10646116;10930463;11100470;11141505;11237011;11390472;11970960;12358597;12415008;12429738;12482908;1333888;1400330;14701737;15350224;15564041;16157329;1708799;17324935;18339631;18469808;19720988;19836010;20112406;20625381;21646718;23290524;23440719;23584533;24715725;25576301;25641372;25813380;26992070;27339457;29242379;29393594;30459171;31611695;31844290;31848261;32161166;32387766;33141586;33392160;33912179;33968037;33981976;34411563;35051231;35251023;35580925;36524797;37074911;37232163;38547642;38665916;39121531;7500359;7534784;7693660;7737999;8047140;8242743;8947046;8980228;9233797;9271198;9311995;9346966;9660815;9725916;9865696",
"class_list": "",
"function": "Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus., [RefSeq, PubMed]; Effect of decreased expression of latent TGF-beta binding proteins 4 on the pathogenesis of emphysema as an age-related disease. Review article, [RefSeq, PubMed]; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts., [RefSeq, PubMed]; Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease., [RefSeq, PubMed]; The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]., [RefSeq]",
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},
{
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{
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],
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"protein_name": "Hepatocyte growth factor receptor",
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"refseq_name": "hepatocyte growth factor receptor isoform b preproprotein",
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{
"id": "NP_000236",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000236",
"type": "external"
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],
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"protein_names_uniprotkb": "Hepatocyte growth factor receptor; 2.7.10.1; HGF receptor; HGF/SF receptor; Proto-oncogene c-Met; SF receptor; Scatter factor receptor; Tyrosine-protein kinase Met",
"protein_names_refseq": "HGF receptor; HGF/SF receptor; SF receptor; hepatocyte growth factor receptor isoform b preproprotein; hepatocyte growth factor receptor; proto-oncogene c-Met; scatter factor receptor; tyrosine-protein kinase Met",
"tax_id": 9606,
"disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive nonsyndromic deafness 97 (Disease Ontology:DOID:0110539); prostate carcinoma (Disease Ontology:DOID:10286); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); sarcoma (Disease Ontology:DOID:1115); gestational diabetes (Disease Ontology:DOID:11714); autistic disorder (Disease Ontology:DOID:12849); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); arteriosclerosis (Disease Ontology:DOID:2349); ovarian cancer (Disease Ontology:DOID:2394); invasive ductal carcinoma (Disease Ontology:DOID:3008); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); papillary renal cell carcinoma (Disease Ontology:DOID:4465); large cell carcinoma (Disease Ontology:DOID:4552); cholangiocarcinoma (Disease Ontology:DOID:4947); pancreatitis (Disease Ontology:DOID:4989); gastrinoma (Disease Ontology:DOID:5577); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); liver benign neoplasm (Disease Ontology:DOID:916); multiple myeloma (Disease Ontology:DOID:9538); osteofibrous dysplasia (MONDO:MONDO:0011806); arthrogryposis, distal, IIa 11 (MONDO:MONDO:0031045)",
"pathway": " (hsa:4233); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-416550); (R-HSA-5673001); (R-HSA-6806942); (R-HSA-6807004); (R-HSA-6811558); (R-HSA-8851805); (R-HSA-8851907); (R-HSA-8865999); (R-HSA-8874081); (R-HSA-8875360); (R-HSA-8875513); (R-HSA-8875555); (R-HSA-8875656); (R-HSA-8875791); (R-HSA-9022699); (R-HSA-9734091); (R-HSA-9825892)",
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"function": "(Microbial infection) Acts as a receptor for Listeria monocytogenes internalin InlB, mediating entry of the pathogen into cells., [UniProtKB, PubMed, PubMed, PubMed]; Deregulated immune cell recruitment orchestrated by c-MET impairs pulmonary inflammation and fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Differential Immune Checkpoint Protein Expression in HNSCC: The Role of HGF/MET Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; MET exon 14 skipping mutations in non-small-cell lung cancer: real-world data from the Italian biomarker ATLAS database., [RefSeq, PubMed]; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of neuronal precursors, angiogenesis and kidney formation. During skeletal muscle development, it is crucial for the migration of muscle progenitor cells and for the proliferation of secondary myoblasts (By similarity). In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Also promotes differentiation and proliferation of hematopoietic cells. May regulate cortical bone osteogenesis (By similarity)., [UniProtKB, UniProtKB]; Single-molecule imaging and molecular dynamics simulations reveal early activation of the MET receptor in cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]., [RefSeq]; We outline the key features of the MET gene, its protein product and the ligand HGF/SF, to provide an overview of this important signalling pathway and offer a summary of the relevant pathological and clinical directions of research. Review article Erratum:[J Clin Pathol. 2015 Jul;68(7):e2. doi: 10.1136/jclinpath-2015-203050corr1. PMID: 26093021], [RefSeq, PubMed]",
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"pathway": " (hsa:683); (R-HSA-163125); (R-HSA-196807); (R-HSA-6798695)",
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"function": "Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population., [RefSeq, PubMed]; Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]., [RefSeq]; CD157 signaling promotes survival of acute myeloid leukemia cells and modulates sensitivity to cytarabine through regulation of anti-apoptotic Mcl-1. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes both the synthesis of cyclic ADP-beta-D-ribose (cADPR) from NAD(+), and its hydrolysis to ADP-D-ribose (ADPR) (PubMed:7805847). Cyclic ADPR is known to serve as an endogenous second messenger that elicits calcium release from intracellular stores, and thus regulates the mobilization of intracellular calcium (Probable). May be involved in pre-B-cell growth (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Genetic polymorphisms of bone marrow stromal cell antigen-1 (BST-1/CD157): implications for immune/inflammatory dysfunction in neuropsychiatric disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder., [RefSeq, PubMed]",
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{
"id": "7.6.2.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1",
"type": "external"
},
{
"id": "1.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-",
"type": "external"
},
{
"id": "3.1.4.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4",
"type": "external"
},
{
"id": "2.4.2.31",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "2.3.1.78",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78",
"type": "external"
},
{
"id": "3.4.21.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-",
"type": "external"
}
],
"go_molecular_function": "GO:0016740 transferase activity;GO:0016849 phosphorus-oxygen lyase activity;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome;GO:0001931 uropod",
"go_biological_process": "GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0032956 regulation of actin cytoskeleton organization;GO:0030890 positive regulation of B cell proliferation;GO:0050727 regulation of inflammatory response",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P09382-1",
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{
"id": "LEG1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P09382",
"type": "external"
}
],
"mass": 14716.0,
"length": 135,
"protein_name": "Galectin-1",
"gene_name": "LGALS1",
"organism": "Human",
"refseq_name": "galectin-1",
"refseq_ac": [
{
"id": "NP_002296",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002296",
"type": "external"
}
],
"gene_names_uniprotkb": "LGALS1",
"gene_names_refseq": "GAL1; GBP; LGALS1",
"protein_names_uniprotkb": "Galectin-1; 14 kDa laminin-binding protein; 14 kDa lectin; Beta-galactoside-binding lectin L-14-I; Gal-1; Galaptin; HBL; HLBP14; HPL; Lactose-binding lectin 1; Lectin galactoside-binding soluble 1; Putative MAPK-activating protein PM12; S-Lac lectin 1",
"protein_names_refseq": "14 kDa laminin-binding protein; 14 kDa lectin; HBL; HLBP14; HPL; S-Lac lectin 1; beta-galactoside-binding lectin L-14-I; beta-galactoside-binding protein 14kDa; epididymis secretory sperm binding protein; gal-1; galaptin; galectin-1; lactose-binding lectin 1; lectin, galactoside-binding, soluble, 1; putative MAPK-activating protein PM12",
"tax_id": 9606,
"disease": "lipoid nephrosis (Disease Ontology:DOID:10966); extrahepatic cholestasis (Disease Ontology:DOID:13619); B-cell lymphoma (Disease Ontology:DOID:707)",
"pathway": " (hsa:3956); (R-HSA-381426); (R-HSA-8957275)",
"pathway_count": 3,
"publication_count": 173,
"publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10369126;10512690;10591208;10614670;10681634;10764829;10810289;10898936;10912521;10951195;10990447;11146440;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12665801;12761501;12810533;12904166;1370451;1383255;1386213;14617626;14702039;15126567;15308688;15461802;15469690;15476813;15485880;15489334;15525596;15642270;1602151;17047378;1713454;17249697;17312271;17985932;18477386;18796645;18802091;18824694;19128029;19497882;19608861;19615748;1988031;1996404;20068231;20184898;20826047;21269460;22136701;22223895;22814378;22905912;23131994;23301498;23719902;2383549;24190977;24275569;24714562;24715725;24752896;2476804;2479552;24945728;25502872;25576301;25944712;25945972;26091039;26154972;26992070;2719646;2719964;27416897;27600516;27655845;27846572;28503789;2910856;29242379;29437277;29493099;29557506;29888844;30315122;30410026;30429286;3065332;31217245;31844290;31848261;32157095;32272059;32350084;32357974;32488085;32938616;32983136;33043033;33214551;33298915;33592498;33599733;33912179;33920014;33968037;33981976;34019948;34022292;34171305;34206141;34249474;34357683;34433824;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35580925;36010968;3611046;36241641;36284347;37938771;38557441;38578722;38665916;38804039;38960889;38965225;7501023;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210",
"class_list": "glycogene",
"function": "A novel LGALS1-depended and immune-associated fatty acid metabolism risk model in acute myeloid leukemia stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Cardiorespiratory fitness and the association with galectin-1 in middle-aged individuals. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-1 Promotes Gastric Carcinoma Progression and Cisplatin Resistance Through the NRP-1/c-JUN/Wee1 Pathway., [RefSeq, PubMed]; Galectin-1 overexpression induces normal fibroblasts translate into cancer-associated fibroblasts and attenuates the sensitivity of anlotinib in lung cancer., [RefSeq, PubMed]; Lectin that binds beta-galactoside and a wide array of complex carbohydrates. Plays a role in regulating apoptosis, cell proliferation and cell differentiation. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis. Plays a negative role in Th17 cell differentiation via activation of the receptor CD69 (PubMed:24752896)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"reported_glycation": 0,
"reported_snv": 200,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
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"binding_glycan_count": 0,
"secondary_ac_list": "B2R5E8;Q9UDK5",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0043236 laminin binding;GO:0048018 receptor ligand activity;GO:0030395 lactose binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol",
"go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0098609 cell-cell adhesion;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0046598 positive regulation of viral entry into host cell",
"synthesized_glycan_count": 0,
"hit_score": 17.9,
"record_id": "P09382-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q00973-1",
"uniprot_id": [
{
"id": "B4GN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q00973",
"type": "external"
}
],
"mass": 58882.0,
"length": 533,
"protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1",
"gene_name": "B4GALNT1",
"organism": "Human",
"refseq_name": "beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001263397",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263397",
"type": "external"
}
],
"gene_names_uniprotkb": "B4GALNT1; GALGT; SIAT2",
"gene_names_refseq": "B4GALNT1; GALGT; GALNACT; GalNAc-T; SPG26",
"protein_names_uniprotkb": "Beta-1,4 N-acetylgalactosaminyltransferase 1; (N-acetylneuraminyl)-galactosylglucosylceramide; 2.4.1.92; GM2/GD2 synthase; GalNAc-T",
"protein_names_refseq": "GD2 synthase, GM2 synthase; GM2/GD2 synthase; UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1; UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T); beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2; beta-1,4-N-acetyl-galactosaminyl transferase 1; beta1,4GalNAc-T",
"tax_id": 9606,
"disease": "hereditary spastic paraplegia 26 (Disease Ontology:DOID:0110777)",
"pathway": " (hsa:2583); (R-HSA-9840309)",
"pathway_count": 2,
"publication_count": 54,
"publication_id_list": "10601645;10748143;10993897;11018043;11237011;11283017;11956206;12222957;12668675;12815231;12888565;1601877;16934889;20547865;2118655;22735313;23290777;23746551;23882130;24498430;28904123;29632046;29802621;30315122;31844290;32350084;32357974;32938616;33367717;33592498;34357683;34509645;34907737;34982351;35051231;35251023;35775650;36215666;36241641;37337736;37555669;7487055;7876235;7890749;8120069;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625",
"class_list": "glycogene;glycosyltransferase",
"function": "B4GALNT1 promotes carcinogenesis by regulating epithelial-mesenchymal transition in hepatocellular carcinoma based on pan-cancer analysis., [RefSeq, PubMed]; B4GALNT1 promotes progression and metastasis in lung adenocarcinoma through JNK/c-Jun/Slug pathway., [RefSeq, PubMed]; Does GD2 synthase (GD2S) detect cancer stem cells in blood samples of breast carcinomas?, [RefSeq, PubMed]; Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis., [RefSeq, PubMed]; GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]; Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively., [UniProtKB, PubMed, PubMed, PubMed]; Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) isozyme surface charge governs charge substrate preferences to modulate mucin type O-glycosylation., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_glycation": 0,
"reported_snv": 713,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"binding_glycan_count": 0,
"secondary_ac_list": "B4DE26;Q8N636",
"ec_number_list": [
{
"id": "2.4.1.92",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.92",
"type": "external"
}
],
"go_molecular_function": "GO:0008376 acetylgalactosaminyltransferase activity;GO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane",
"go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006687 glycosphingolipid metabolic process;GO:0001574 ganglioside biosynthetic process",
"synthesized_glycan_count": 72,
"hit_score": 5.8,
"record_id": "Q00973-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.11000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q70EL1-1",
"uniprot_id": [
{
"id": "UBP54_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q70EL1",
"type": "external"
}
],
"mass": 187388.0,
"length": 1684,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 54",
"gene_name": "USP54",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 54 isoform 2",
"refseq_ac": [
{
"id": "NP_001307366",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307366",
"type": "external"
}
],
"gene_names_uniprotkb": "USP54; C10orf29",
"gene_names_refseq": "C10orf29; USP54; bA137L10.3; bA137L10.4",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 54; 3.4.19.12; Ubiquitin-specific peptidase 54",
"protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 54; inactive ubiquitin-specific peptidase 54; ubiquitin carboxyl-terminal hydrolase 54 isoform 2; ubiquitin specific protease 54; ubiquitin specific proteinase 54",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:159195)",
"pathway_count": 1,
"publication_count": 46,
"publication_id_list": "11237011;14715245;16959974;18669648;19651622;23186163;23481700;25576301;25645385;25892735;27600516;27769071;28218747;28834231;29242379;29557506;29769354;30429286;30620550;31492838;31844290;32157095;32350084;32387766;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34087483;34405274;34509645;34561969;35051231;36010968;36590171;38253038;38321455;38744954;39534244;39587316;40136647",
"class_list": "",
"function": "Deubiquitinase that specifically mediates 'Lys-63'-linked deubiquitination of substrates with a polyubiquitin chain composed of at least 3 ubiquitins (PubMed:39587316). Specifically recognizes ubiquitin chain in position S2 and catalyzes cleavage of polyubiquitin within 'Lys-63'-linked chains (PubMed:39587316). Not able to deubiquitinate substrates with shorter ubiquitin chains (PubMed:39587316). Mediates deubiquitination of PLK4, maintaining PLK4 stability by reducing its ubiquitination-mediated degradation (PubMed:36590171)., [UniProtKB, PubMed, PubMed]; USP54 is a potential therapeutic target in castration-resistant prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation., [RefSeq, PubMed]; We have demonstrated that USP54 is overexpressed in colon CSCs and promotes both colon carcinoma and melanoma progression., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_mutagensis": 2,
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"reported_snv": 48,
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"biomarker_type": "",
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"secondary_ac_list": "A1L4Q4;A3KFK3;A3KFK5;A3KFK6;A3KFK7;A6PVS4;A6PVS5;A6PVS6;A6PVS7;B3KVY1;B9ZVM1;Q5F2F4;Q6P1N6;Q6ZSP1;Q6ZSR1;Q6ZTM0;Q8N1X2",
"ec_number_list": [],
"go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity",
"go_cellular_component": "",
"go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 5.7,
"record_id": "Q70EL1-1",
"record_type": "protein",
"filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96RK0-1",
"uniprot_id": [
{
"id": "CIC_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96RK0",
"type": "external"
}
],
"mass": 258033.0,
"length": 2517,
"protein_name": "Protein capicua homolog",
"gene_name": "CIC",
"organism": "Human",
"refseq_name": "protein capicua homolog isoform CIC-L",
"refseq_ac": [
{
"id": "NP_001291744",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291744",
"type": "external"
}
],
"gene_names_uniprotkb": "CIC; KIAA0306",
"gene_names_refseq": "CIC; MRD45",
"protein_names_uniprotkb": "Protein capicua homolog",
"protein_names_refseq": "protein capicua homolog isoform CIC-L; protein capicua homolog",
"tax_id": 9606,
"disease": "autosomal dominant intellectual developmental disorder 45 (Disease Ontology:DOID:0080236); disease of mental health (Disease Ontology:DOID:150)",
"pathway": " (hsa:23152)",
"pathway_count": 1,
"publication_count": 63,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;12393275;15981098;16959974;17081983;18220336;18452278;18669648;19690332;20068231;20305658;21076407;21087211;21406692;21740066;21817013;23186163;23301498;24129315;24275569;25418920;25576301;25645385;25892735;26992070;27655845;28288114;28657654;28832583;29237092;30059200;30315122;30397120;30397230;30833945;31492838;31848261;32119511;32157095;32161166;32574038;32938750;33103082;33214551;34019948;34725712;35132862;35138101;35254053;35289036;36788092;36791667;37340703;37541260;38278603;38665916;39302247;39531497;39534244;40136647;40307207;41350704",
"class_list": "",
"function": "A global collaboRAtive study of CIC-rearranged, BCOR::CCNB3-rearranged and other ultra-rare unclassified undifferentiated small round cell sarcomas (GRACefUl)., [RefSeq, PubMed]; CIC gene was mutated in 6 oligodendrogliomas and FUBP1 gene was mutated in 2; 27 additional oligodendrogliomas showed 12 and 3 more tumors with mutations of CIC and FUBP1; results suggest role of these genes in biology and pathology of oligodendrocytes, [RefSeq, PubMed]; CIC-Rearranged Sarcoma. Review article, [RefSeq, PubMed]; Expanding the Molecular Diversity of CIC-Rearranged Sarcomas With Novel and Very Rare Partners., [RefSeq, PubMed]; Medulloblastomas exhibited the highest level of CIC expression, although the level of expression varied between different medulloblastoma subtypes. Expression was most common in tumors of the CNS in general., [RefSeq, PubMed]; Results describe the identification and characterization of a new gene, Cic, in both human and mouse genomes, that is implicated in granule cell development., [RefSeq, PubMed]; The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]., [RefSeq]; Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]",
"predicted_glycosites": 15,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 15,
"predicted_c_glycosites": 0,
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"reported_n_glycosites_with_glycan": 1,
"reported_o_glycosites_with_glycan": 7,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
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"reported_phosphosites": 47,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 72,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 2,
"disease_count": 2,
"glyco_site_count": 23,
"binding_glycan_count": 0,
"secondary_ac_list": "A0A7P0T9K5;Q7LGI1;Q9UEG5;Q9Y6T1",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007612 learning;GO:0007613 memory;GO:0045892 negative regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 7.4,
"record_id": "Q96RK0-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6ZMB0-1",
"uniprot_id": [
{
"id": "B3GN6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ZMB0",
"type": "external"
}
],
"mass": 42748.0,
"length": 384,
"protein_name": "Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase",
"gene_name": "B3GNT6",
"organism": "Human",
"refseq_name": "acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase",
"refseq_ac": [
{
"id": "NP_619651",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_619651",
"type": "external"
}
],
"gene_names_uniprotkb": "B3GNT6",
"gene_names_refseq": "3-Gn-T6; B3GNT6; B3Gn-T6; BGnT-6; beta-1; beta3Gn-T6",
"protein_names_uniprotkb": "Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; 2.4.1.147; BGnT-6; Beta-1,3-Gn-T6; Beta-1,3-N-acetylglucosaminyltransferase 6; Beta3Gn-T6; Core 3 synthase; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6",
"protein_names_refseq": "acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; beta-1,3-N-acetylglucosaminyltransferase 6; beta-1,3-N-acetylglucosaminyltransferase protein; core 3 synthase",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:192134); (R-HSA-913709)",
"pathway_count": 2,
"publication_count": 34,
"publication_id_list": "10330415;10430883;10753916;11042166;11237011;11283017;11304796;11821425;12855678;1329093;15486459;15560372;15620693;15755813;17113861;18537974;19395705;22183981;24643043;29557506;29789417;33253272;34185709;35387659;35580925;36010968;37217939;7655172;9295285;9394011;9417100;9435216;9915862;9988682",
"class_list": "glycogene;glycosyltransferase",
"function": "Alpha2beta1 integrin acquired core3 O-glycans in cells expressing core3 synthase with decreased maturation of beta1 integrin, leading to decreased levels of the alpha2beta1 integrin complex, [RefSeq, PubMed]; Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs., [UniProtKB]; Clinicopathological significance of core 3 O-glycan synthetic enzyme, beta1,3-N-acetylglucosaminyltransferase 6 in pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of B3GNT6 is a predictor of poor outcomes in patients with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Expression was markedly down-regulated in gastric and colorectal carcinomas, [RefSeq, PubMed]; The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]., [RefSeq]",
"predicted_glycosites": 4,
"predicted_n_glycosites": 3,
"predicted_o_glycosites": 1,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 1,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
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"total_n_glycosites": 0,
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"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 649,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "E9PKS1;Q6ZSC5;Q8TAZ4;Q8TDX1",
"ec_number_list": [
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "2.4.1.147",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.147",
"type": "external"
},
{
"id": "2.4.1.149",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.149",
"type": "external"
},
{
"id": "2.4.1.206",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.206",
"type": "external"
},
{
"id": "2.4.1.146",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.146",
"type": "external"
}
],
"go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0008378 galactosyltransferase activity;GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity;GO:0047223 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity;GO:0047224 acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane",
"go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0030311 poly-N-acetyllactosamine biosynthetic process",
"synthesized_glycan_count": 897,
"hit_score": 3.7,
"record_id": "Q6ZMB0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.11000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q12846-1",
"uniprot_id": [
{
"id": "STX4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q12846",
"type": "external"
}
],
"mass": 34180.0,
"length": 297,
"protein_name": "Syntaxin-4",
"gene_name": "STX4",
"organism": "Human",
"refseq_name": "syntaxin-4 isoform 2",
"refseq_ac": [
{
"id": "NP_001259025",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259025",
"type": "external"
}
],
"gene_names_uniprotkb": "STX4; STX4A",
"gene_names_refseq": "DFNB123; STX4A; STX4; p35-2",
"protein_names_uniprotkb": "Syntaxin-4; Renal carcinoma antigen NY-REN-31",
"protein_names_refseq": "renal carcinoma antigen NY-REN-31; syntaxin 4A (placental); syntaxin-4 isoform 2",
"tax_id": 9606,
"disease": "autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); autosomal recessive nonsyndromic deafness 123 (Disease Ontology:DOID:0070670)",
"pathway": " (hsa:6810); (R-HSA-114516); (R-HSA-1236974); (R-HSA-1445148); (R-HSA-199992); (R-HSA-449836)",
"pathway_count": 6,
"publication_count": 103,
"publication_id_list": "10080545;10194441;10395686;10438516;10508479;10856305;11101518;11237011;11994746;12469119;12558796;14993220;15919790;15971998;16488976;16492764;16880201;16984405;17369524;17389395;17995453;18467591;18578522;18669648;18692471;18707149;18973100;19013499;19217269;19252894;19651622;20068231;20166139;20631154;20701589;20837646;20937701;21406692;21454505;21454690;2147944;21716315;21907143;22153078;23186163;23291588;23613522;23744080;24275569;24366607;24494924;24715725;25083866;2550440;25576301;25662098;26095744;28218747;28510447;28832583;28904123;29242379;29314611;29393594;29557506;29632046;29774024;29786170;29896202;30429286;31020640;31530632;31844290;31848261;32157095;32265295;32350084;32938616;32983136;33141586;33592498;33717175;33936100;33968037;34357683;34932366;35051231;35154160;35580925;36284347;36355422;37885878;38136609;7615501;7805849;8094051;8206394;8664345;8760387;8810314;9422780;9614177;9727496",
"class_list": "",
"function": "Phosphorylation of Syntaxin 4 by the Insulin Receptor Drives Exocytic SNARE Complex Formation to Deliver GLUT4 to the Cell Surface. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma membrane t-SNARE that mediates docking of transport vesicles (By similarity). Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane (By similarity). In neurons, recruited at neurite tips to membrane domains rich in the phospholipid 1-oleoyl-2-palmitoyl-PC (OPPC) which promotes neurite tip surface expression of the dopamine transporter SLC6A3/DAT by facilitating fusion of SLC6A3-containing transport vesicles with the plasma membrane (By similarity). Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes and in docking of synaptic vesicles at presynaptic active zones (By similarity). Required for normal hearing (PubMed:36355422)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Syntaxin 4 is essential for hearing in human and zebrafish., [RefSeq, PubMed]; Syntaxin-4 and SNAP23 are involved in neutrophil degranulation, but not in the release of mitochondrial DNA during NET formation. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 1,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 1,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 1,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 10,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 2,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A8MXY0;Q15525;Q6FHE8",
"ec_number_list": [],
"go_molecular_function": "GO:0016230 sphingomyelin phosphodiesterase activator activity;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0032589 neuron projection membrane;GO:0000421 autophagosome membrane;GO:0005615 extracellular space;GO:0005768 endosome",
"go_biological_process": "GO:0048284 organelle fusion;GO:0006886 intracellular protein transport;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0045785 positive regulation of cell adhesion",
"synthesized_glycan_count": 0,
"hit_score": 10.6,
"record_id": "Q12846-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9ULD4-1",
"uniprot_id": [
{
"id": "BRPF3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9ULD4",
"type": "external"
}
],
"mass": 135745.0,
"length": 1205,
"protein_name": "Bromodomain and PHD finger-containing protein 3",
"gene_name": "BRPF3",
"organism": "Human",
"refseq_name": "bromodomain and PHD finger-containing protein 3",
"refseq_ac": [
{
"id": "NP_056510",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056510",
"type": "external"
}
],
"gene_names_uniprotkb": "BRPF3; KIAA1286",
"gene_names_refseq": "BRPF3",
"protein_names_uniprotkb": "Bromodomain and PHD finger-containing protein 3",
"protein_names_refseq": "bromodomain and PHD finger-containing protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27154); (R-HSA-114608); (R-HSA-3214847); (R-HSA-6804758)",
"pathway_count": 4,
"publication_count": 58,
"publication_id_list": "10.1101/2023.09.13.557529;10786633;10821277;11099047;11237011;1435334;14630798;15297306;15313887;16387653;16839880;17081983;17924679;18381289;18452278;18623064;18794358;19187765;19608861;19690332;20018852;20068231;20228809;20660729;21406692;21720545;23186163;23431171;23640497;25576301;25593309;26620551;26677226;27862975;29557506;30429286;30484775;31844290;31848261;32157095;32387766;32502341;32938616;33141586;33912179;33968037;34171305;34509645;34561969;35051231;35580925;36010968;40136647;6457647;8467233;9427644;9558366;9880483",
"class_list": "",
"function": "Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:26620551, PubMed:26677226). Plays a role in DNA replication initiation by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac), thereby facilitating the activation of replication origins (PubMed:26620551). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653)., [UniProtKB, PubMed, PubMed, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
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"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 1,
"reported_o_glycosites_with_glycan": 3,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 1,
"total_reported_o_glycosites": 3,
"total_reported_c_glycosites": 0,
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"total_n_glycosites": 1,
"total_o_glycosites": 3,
"total_c_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 11,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 29,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 2,
"disease_count": 0,
"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "A6ND56;A6NJE2;B7ZLN5;E7EX85;Q17RB6;Q5R3K8",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0140566 histone reader activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0000123 histone acetyltransferase complex;GO:0070776 MOZ/MORF histone acetyltransferase complex",
"go_biological_process": "GO:0050793 regulation of developmental process;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045740 positive regulation of DNA replication;GO:1903706 regulation of hemopoiesis",
"synthesized_glycan_count": 0,
"hit_score": 6.5,
"record_id": "Q9ULD4-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z7M0-1",
"uniprot_id": [
{
"id": "MEGF8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z7M0",
"type": "external"
}
],
"mass": 303100.0,
"length": 2845,
"protein_name": "Multiple epidermal growth factor-like domains protein 8",
"gene_name": "MEGF8",
"organism": "Human",
"refseq_name": "multiple epidermal growth factor-like domains protein 8 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001258867",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258867",
"type": "external"
}
],
"gene_names_uniprotkb": "MEGF8; C19orf49; EGFL4; KIAA0817",
"gene_names_refseq": "C19orf49; CRPT2; EGFL4; MEGF8; SBP1",
"protein_names_uniprotkb": "Multiple epidermal growth factor-like domains protein 8; EGF-like protein 4; Epidermal growth factor-like protein 4; Multiple EGF-like domains protein 8",
"protein_names_refseq": "EGF-like domain-containing protein 4; EGF-like-domain, multiple 4; HBV pre-S2-binding protein 1; HBV pre-s2 binding protein 1; epidermal growth factor-like protein 4; hepatitis B virus pre-S2-binding protein 1; multiple epidermal growth factor-like domains protein 8 isoform 1 precursor; multiple epidermal growth factor-like domains protein 8",
"tax_id": 9606,
"disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); Carpenter syndrome (Disease Ontology:DOID:0060234); Carpenter syndrome 2 (Disease Ontology:DOID:0061099); opioid abuse (Disease Ontology:DOID:11206); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); opiate dependence (Disease Ontology:DOID:2559); myocardial infarction (Disease Ontology:DOID:5844); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)",
"pathway": " (hsa:1954)",
"pathway_count": 1,
"publication_count": 59,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;16335952;23063620;23090970;23481700;24190977;24397554;25502872;25576301;25645385;26375851;27600516;27862975;28228285;28514659;28649982;28832583;28904123;29242379;29391424;29393594;29557506;29671580;29786170;30315122;30410026;30459171;30484775;30779550;30833945;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;33298915;33592498;33912179;33968037;34171305;34509645;34932366;35051231;35251023;35318648;35580925;36010968;37074911;38039718;38760421;9693030",
"class_list": "",
"function": "Acts as a negative regulator of hedgehog signaling., [UniProtKB, UniProtKB]; Mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members., [RefSeq, PubMed]; Role and mechanism of miR-871-3p/Megf8 in regulating formaldehyde-induced cardiomyocyte inflammation and congenital heart disease., [RefSeq, PubMed]; The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients., [RefSeq, PubMed]; The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]",
"predicted_glycosites": 3,
"predicted_n_glycosites": 1,
"predicted_o_glycosites": 2,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 10,
"reported_o_glycosites": 1,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 15,
"reported_o_glycosites_with_glycan": 1,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 16,
"total_reported_o_glycosites": 1,
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"total_reported_s_glycosites": 0,
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"go_molecular_function": "GO:0005509 calcium ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0000151 ubiquitin ligase complex",
"go_biological_process": "GO:0060971 embryonic heart tube left/right pattern formation;GO:0060972 left/right pattern formation;GO:0097094 craniofacial suture morphogenesis;GO:0007165 signal transduction;GO:0030326 embryonic limb morphogenesis",
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},
{
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{
"id": "ATS19_HUMAN",
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],
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 19",
"gene_name": "ADAMTS19",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 19",
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{
"id": "NP_598377",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_598377",
"type": "external"
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],
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"gene_names_refseq": "ADAMTS19; CVDP2",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 19; 3.4.24.-; ADAM-TS 19; ADAM-TS19; ADAMTS-19",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 19; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); aortic valve disease (Disease Ontology:DOID:62); cardiac valvular dysplasia 2 (MONDO:MONDO:0859572)",
"pathway": " (hsa:171019); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 3,
"publication_count": 17,
"publication_id_list": "11067851;11237011;11867212;16464858;16959974;18720094;19508998;19796186;22588082;23889335;24014609;25051287;25544610;28088271;31844321;32323311;33921267",
"class_list": "",
"function": "ADAMTS19 Suppresses Cell Migration and Invasion by Targeting S100A16 via the NF-kappaB Pathway in Human Gastric Cancer. Erratum:[Biomolecules. 2025 Dec 29;16(1):50. doi: 10.3390/biom16010050. PMID: 41594721] Publication Status: Online-Only, [RefSeq, PubMed]; ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype., [RefSeq, PubMed]; Although limited by sample size, this proof-of-principle study's findings reveal ADAMTS19 as a possible candidate gene for premature ovarian failure and thus a larger follow-up study is warranted. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Mutations in ADAMTS19 lead to progressive heart valve disease., [RefSeq, PubMed]; Synergistic interactions were detected between SNPs, including a non-synonymous SNP, and diplotypes within IGF2R and ADAMTS19 which may contribute to POF., [RefSeq, PubMed]; The pregnancy loss rate does not appear to be affected by both ADAMTS-13 and ADAMTS-19., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]., [RefSeq]; We found that the AAAAA, AGGAG, and AGGGA haplotypes in ACVR2B were associated with susceptibility to Premature Ovarian Failure when they also had at least one CATAG haplotype in ADAMTS19., [RefSeq, PubMed]",
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{
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{
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{
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{
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{
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{
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],
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"go_cellular_component": "GO:0031012 extracellular matrix",
"go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0003183 mitral valve morphogenesis;GO:0060412 ventricular septum morphogenesis",
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},
{
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{
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],
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"length": 941,
"protein_name": "HMG box transcription factor BBX",
"gene_name": "BBX",
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"refseq_name": "HMG box transcription factor BBX isoform 1",
"refseq_ac": [
{
"id": "NP_001136040",
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],
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"gene_names_refseq": "ARTC1; BBX; HBP2; HSPC339; MDS001",
"protein_names_uniprotkb": "HMG box transcription factor BBX; Bobby sox homolog; HMG box-containing protein 2",
"protein_names_refseq": "Ag recognized by Treg cells 1; BBX, HMG-box containing; HMG box transcription factor BBX isoform 1; HMG box transcription factor BBX; HMG box-containing protein 2; bobby sox homolog; x 001 protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:56987)",
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"publication_id_list": "11230166;11237011;11680820;18669648;19690332;20068231;23186163;23301498;23481700;24275569;25576301;26154972;26992070;27869121;27920218;28514659;28832583;29237092;29242379;29351928;29393594;29493099;29557506;29632046;30059200;30379171;30429286;30620550;31154438;31492838;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32938750;32983136;33592498;33912179;33968037;34019948;34846842;35051231;35254053;35289036;35513511;35580925;39302247;39531497;39534244;40596516",
"class_list": "",
"function": "Transcription factor that is necessary for cell cycle progression from G1 to S phase., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]",
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"go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
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},
{
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],
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"protein_name": "Calcium/calmodulin-dependent protein kinase type 1",
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"refseq_name": "calcium/calmodulin-dependent protein kinase type 1",
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003647",
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],
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"gene_names_refseq": "CAMK1; CAMKI",
"protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase type 1; 2.7.11.17; CaM kinase I alpha; CaM kinase I; CaM-KI; CaMKI-alpha",
"protein_names_refseq": "caM kinase I alpha; caM-KI; caMKI-alpha; calcium/calmodulin-dependent protein kinase type 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8536); (R-HSA-9617324); (R-HSA-9619229)",
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"publication_id_list": "10.1101/2023.09.13.557529;11114197;11237011;11395482;11749376;12193581;12665801;12807427;14507913;14754892;15173201;15262966;17056143;17287469;17344846;17442826;18184567;18817731;20181577;21301225;23028635;23110126;23216827;23707388;24275569;24715725;26992070;27862975;28904123;29493099;29557506;30484775;31844290;32157095;32387766;32488085;32897882;32938616;32983136;33298915;33342045;33592498;33912179;33968037;34171305;34509645;35051231;35580925;36010968;36241641;36284347;37938771;7641687;9662074;9822657",
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"function": "Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]., [RefSeq]; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser-694', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on 'Ser-91', 'Ser-92', 'Ser-93' and 'Ser-294'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of 'Ser-259' and 'Ser-498' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on 'Ser-276' and 'Ser-295'. Involved in the regulation of basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9 and SYN1/synapsin I., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of CAMK1 and its association with clinicopathologic characteristics in pancreatic cancer., [RefSeq, PubMed]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
"type": "external"
},
{
"id": "2.7.11.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
"type": "external"
}
],
"go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0004683 calcium/calmodulin-dependent protein kinase activity;GO:0106310 protein serine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density",
"go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction",
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"record_id": "Q14012-1",
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},
{
"uniprot_canonical_ac": "Q15562-1",
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{
"id": "TEAD2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15562",
"type": "external"
}
],
"mass": 49243.0,
"length": 447,
"protein_name": "Transcriptional enhancer factor TEF-4",
"gene_name": "TEAD2",
"organism": "Human",
"refseq_name": "transcriptional enhancer factor TEF-4 isoform 1",
"refseq_ac": [
{
"id": "NP_001243587",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243587",
"type": "external"
}
],
"gene_names_uniprotkb": "TEAD2; TEF4",
"gene_names_refseq": "ETF; TEAD-2; TEAD2; TEF-4; TEF4",
"protein_names_uniprotkb": "Transcriptional enhancer factor TEF-4; TEA domain family member 2; TEAD-2",
"protein_names_refseq": "TEA domain family member 2; transcriptional enhancer factor TEF-4 isoform 1; transcriptional enhancer factor TEF-4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8463); (R-HSA-2032785); (R-HSA-8951671); (R-HSA-9796292); (R-HSA-9909649)",
"pathway_count": 5,
"publication_count": 32,
"publication_id_list": "10228168;10441331;10587520;11237011;16332960;18579750;19088198;19324876;19324877;20110263;21741376;26364597;29393594;29557506;30385408;31840817;31844290;31848261;32157095;32183950;32323824;32860047;32938616;33592498;33968037;35580925;36241641;36894036;36907523;8702974;9584153;9651244",
"class_list": "",
"function": "A TEAD2-Driven Endothelial-Like Program Shapes Basal-Like Differentiation and Metastasis of Pancreatic Cancer., [RefSeq, PubMed]; A Therapeutically Targetable TAZ-TEAD2 Pathway Drives the Growth of Hepatocellular Carcinoma via ANLN and KIF23., [RefSeq, PubMed]; TEAD2 as a novel prognostic factor for hepatocellular carcinoma., [RefSeq, PubMed]; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3'). May be involved in the gene regulation of neural development. Binds to the M-CAT motif., [UniProtKB, PubMed, PubMed]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001223 transcription coactivator binding;GO:0097718 disordered domain specific binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0140552 TEAD-YAP complex",
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},
{
"uniprot_canonical_ac": "Q9NWB7-1",
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{
"id": "IFT57_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NWB7",
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}
],
"mass": 49108.0,
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"protein_name": "Intraflagellar transport protein 57 homolog",
"gene_name": "IFT57",
"organism": "Human",
"refseq_name": "intraflagellar transport protein 57 homolog",
"refseq_ac": [
{
"id": "NP_060480",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060480",
"type": "external"
}
],
"gene_names_uniprotkb": "IFT57; DERP8; ESRRBL1; HIPPI",
"gene_names_refseq": "ESRRBL1; HIPPI; IFT57; MHS4R2; OFD18",
"protein_names_uniprotkb": "Intraflagellar transport protein 57 homolog; Dermal papilla-derived protein 8; Estrogen-related receptor beta-like protein 1; HIP1-interacting protein; MHS4R2",
"protein_names_refseq": "HIP1 protein interactor; HIP1-interacting protein; dermal papilla-derived protein 8; estrogen-related receptor beta like 1; estrogen-related receptor beta-like protein 1; huntingtin interacting protein-1 interacting protein; intraflagellar transport 57 homolog; intraflagellar transport protein 57 homolog",
"tax_id": 9606,
"disease": "ciliopathy (Disease Ontology:DOID:0060340); orofaciodigital syndrome XVIII (Disease Ontology:DOID:0060961)",
"pathway": " (hsa:55081); (R-HSA-5610787); (R-HSA-5620924)",
"pathway_count": 3,
"publication_count": 182,
"publication_id_list": "10069812;10966113;11237011;11285270;11375483;11788820;11807533;12192414;12435627;12745083;12795688;14502241;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17107665;17173859;17200122;17312020;17314406;17442700;17553904;17574030;17623017;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22922713;22992454;23209152;23332756;23481700;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25576301;25860617;26154972;26182404;26375851;26992070;27060890;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29093164;29242379;29437277;29557506;29632711;29786170;29789417;30315122;30429286;30779550;30833945;31154438;31217245;31530632;31637240;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34357683;34509645;35051231;35580925;36284347;37938771;39201643;8516294;8522608;9114011;9585416;9585417;9852153",
"class_list": "",
"function": "CD47 and IFT57 Are Colinear Genes That Are Highly Coexpressed in Most Cancers and Exhibit Parallel Cancer-Specific Correlations with Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Critical for the death-promoting effects of mutant huntingtin protein in cultured cells, [RefSeq, PubMed]; Hippi interacts with the viral death protein Apoptin., [RefSeq, PubMed]; Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Together with RAB23 and KIF17, it is required for the localization of specific G protein-coupled receptors, such as dopamime receptor DRD1, to primary cilia (PubMed:26182404). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi, Hip-1 and procaspase-8, and launch apoptosis through components of the 'extrinsic' cell-death pathway., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "Q96DA9",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005929 cilium;GO:0005815 microtubule organizing center;GO:0005930 axoneme",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process;GO:0060271 cilium assembly;GO:0042981 regulation of apoptotic process;GO:1905515 non-motile cilium assembly",
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},
{
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"uniprot_id": [
{
"id": "BT2A2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WVV5",
"type": "external"
}
],
"mass": 59070.0,
"length": 523,
"protein_name": "Butyrophilin subfamily 2 member A2",
"gene_name": "BTN2A2",
"organism": "Human",
"refseq_name": "butyrophilin subfamily 2 member A2 isoform a precursor",
"refseq_ac": [
{
"id": "NP_001184166",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184166",
"type": "external"
}
],
"gene_names_uniprotkb": "BTN2A2; BT2.2; BTF2",
"gene_names_refseq": "BT2.2; BTF2; BTN2.2; BTN2A2",
"protein_names_uniprotkb": "Butyrophilin subfamily 2 member A2",
"protein_names_refseq": "butyrophilin 2; butyrophilin subfamily 2 member A2 isoform a precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10385); (R-HSA-8851680)",
"pathway_count": 2,
"publication_count": 59,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;12502743;16751379;17785817;19531472;20208008;20944003;23646949;24036152;24703779;25637025;25657647;26809444;26992070;27600516;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29632046;29786170;30315122;30410026;30429286;30484775;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34509645;34932366;35051231;35251023;36010968;36241641;37634314;9149941",
"class_list": "",
"function": "Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]; Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers., [RefSeq, PubMed]; Genes encoding butyrophilin-2A2 (BTN2A2) are regulated by the class II trans-activator and regulatory factor X, two transcription factors dedicated to major histocompatibility complex class II expression, suggesting a role in T cell immunity., [RefSeq, PubMed]; Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion., [UniProtKB]",
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"secondary_ac_list": "A6NM84;B4DE97;B4DQ01;E9PH07;O00480",
"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0001817 regulation of cytokine production;GO:0046007 negative regulation of activated T cell proliferation;GO:0001818 negative regulation of cytokine production",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "BEGIN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BUH8",
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}
],
"mass": 64803.0,
"length": 593,
"protein_name": "Brain-enriched guanylate kinase-associated protein",
"gene_name": "BEGAIN",
"organism": "Human",
"refseq_name": "brain-enriched guanylate kinase-associated protein isoform 1",
"refseq_ac": [
{
"id": "NP_001153003",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153003",
"type": "external"
}
],
"gene_names_uniprotkb": "BEGAIN; KIAA1446",
"gene_names_refseq": "BEGAIN",
"protein_names_uniprotkb": "Brain-enriched guanylate kinase-associated protein",
"protein_names_refseq": "brain-enriched guanylate kinase-associated homolog; brain-enriched guanylate kinase-associated protein isoform 1; brain-enriched guanylate kinase-associated protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57596); (R-HSA-6794361)",
"pathway_count": 2,
"publication_count": 49,
"publication_id_list": "11237011;11604393;15540461;16242404;16624946;16846852;16964243;17081983;17322306;17525332;17897391;18212344;18220336;18669648;18691976;18767875;18812509;18829961;19007248;19651622;20064387;20064388;20068231;20519524;21282647;23186163;24662927;25378172;26962152;26992070;28904123;29393594;29557506;32157095;32357974;32387766;32502341;32938616;33141586;33392160;34509645;35051231;38019471;7695896;7736595;8576240;9069287;9808458;9927700",
"class_list": "",
"function": "Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism., [RefSeq, PubMed]; May sustain the structure of the postsynaptic density (PSD)., [UniProtKB]; This study found in BEGAIN was most significant and also showed significant correlations with gene expression., [RefSeq, PubMed]; With the exception of associations of BEGAIN with severe and UBE3D with moderate chronic periodontitis (CP) , no other loci were associated with CP in ARIC or aggressive periodontitis in the German sample., [RefSeq, PubMed]",
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"secondary_ac_list": "Q9NPU3;Q9P282",
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"go_molecular_function": "GO:0016301 kinase activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0045202 synapse;GO:0098794 postsynapse",
"go_biological_process": "GO:0098817 evoked excitatory postsynaptic potential",
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},
{
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}
],
"mass": 28320.0,
"length": 241,
"protein_name": "B-cell receptor-associated protein 29",
"gene_name": "BCAP29",
"organism": "Human",
"refseq_name": "B-cell receptor-associated protein 29 isoform a",
"refseq_ac": [
{
"id": "NP_001008405",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008405",
"type": "external"
}
],
"gene_names_uniprotkb": "BCAP29; BAP29",
"gene_names_refseq": "B29; BAP29; BCAP29",
"protein_names_uniprotkb": "B-cell receptor-associated protein 29; BCR-associated protein 29; Bap29",
"protein_names_refseq": "B-cell receptor-associated protein 29 isoform a; BCR-associated protein 29",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55973)",
"pathway_count": 1,
"publication_count": 44,
"publication_id_list": "10931946;11237011;23481700;25327138;25418920;25645385;26154972;26811146;26992070;27862975;27920218;28228285;28415823;28510447;28832583;28834231;29242379;29393594;29437277;29557506;30315122;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33968037;34509645;35051231;35580925;36010968;37340703;40596516",
"class_list": "",
"function": "May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity)., [UniProtKB]; Plays a role in the export of secreted proteins in the ER., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; We believe that in contrast to traditional gene fusions, DUS4L-BCAP29 cannot be used as a cancer biomarker. Instead, it is a fusion transcript that exists in normal physiology and that its pro-growth effect is not unique to cancer cells., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
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"reported_snv": 11,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
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"binding_glycan_count": 0,
"secondary_ac_list": "G5E9L4;O95003",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0006886 intracellular protein transport;GO:0006915 apoptotic process;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0001649 osteoblast differentiation;GO:0070973 protein localization to endoplasmic reticulum exit site",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O14730-1",
"uniprot_id": [
{
"id": "RIOK3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14730",
"type": "external"
}
],
"mass": 59093.0,
"length": 519,
"protein_name": "Serine/threonine-protein kinase RIO3",
"gene_name": "RIOK3",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase RIO3 isoform 1",
"refseq_ac": [
{
"id": "NP_003822",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003822",
"type": "external"
}
],
"gene_names_uniprotkb": "RIOK3; SUDD",
"gene_names_refseq": "RIOK3; SUDD",
"protein_names_uniprotkb": "Serine/threonine-protein kinase RIO3; 2.7.11.1; RIO kinase 3; sudD homolog",
"protein_names_refseq": "homolog of the Aspergillus nidulans sudD gene product; serine/threonine-protein kinase RIO3 isoform 1; serine/threonine-protein kinase RIO3; sudD (suppressor of bimD6, Aspergillus nidulans) homolog; sudD homolog; sudD suppressor of Aspergillus nidulans bimD6 homolog; sudD suppressor of bimD6 homolog; testicular secretory protein Li 47",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8780); (R-HSA-6791226)",
"pathway_count": 2,
"publication_count": 123,
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"class_list": "",
"function": "Alternative Splicing of RIOK3 Engages the Noncanonical NFkappaB Pathway during Rift Valley Fever Virus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Like RIOK3, PAK4 promotes pancreas ductal cell motility and invasion in pancreatic cancer, [RefSeq, PubMed]; RIOK3 promotes mTORC1 activation by facilitating SLC7A2-mediated arginine uptake in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in a ribosome quality control that takes place when ribosomes have stalled, leading to 18S non-functional rRNA decay and degradation of the 40S ribosomal subunit (PubMed:39947182, PubMed:39947183, PubMed:40022732). Acts downstream of RNF10: specifically recognizes and binds RPS2/us5 and RPS3/us3 monoubiquitinated by RNF10, promoting degradation of the 40S ribosomal subunit in a kinase-dependent manner (PubMed:39947182, PubMed:39947183, PubMed:40022732). The RNF10-RIOK3 ribosome quality control takes place in response to ribosome subunit imbalance or downstream the EIF2AK4/GCN2-mediated integrated stress response (ISR) (PubMed:39947182, PubMed:39947183, PubMed:40022732). Also involved in regulation of type I interferon (IFN)-dependent immune response, possibly by acting as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappa-B signaling pathway (PubMed:19557502)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]., [RefSeq]",
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"reported_phosphosites": 6,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
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"secondary_ac_list": "Q8IXN9",
"ec_number_list": [
{
"id": "2.7.11.1",
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{
"id": "2.7.11.21",
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{
"id": "2.7.12.2",
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{
"id": "2.7.11.-",
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{
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{
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{
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{
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{
"id": "3.1.26.-",
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{
"id": "2.7.11.22",
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{
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{
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{
"id": "2.7.1.40",
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{
"id": "3.1.11.-",
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],
"go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0089720 caspase binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0022626 cytosolic ribosome;GO:0030688 preribosome, small subunit precursor",
"go_biological_process": "GO:0071359 cellular response to dsRNA;GO:0070651 nonfunctional rRNA decay;GO:0007059 chromosome segregation;GO:0045087 innate immune response;GO:0051607 defense response to virus",
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},
{
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{
"id": "CENPE_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q02224",
"type": "external"
}
],
"mass": 316415.0,
"length": 2701,
"protein_name": "Centromere-associated protein E",
"gene_name": "CENPE",
"organism": "Human",
"refseq_name": "centromere-associated protein E isoform 2",
"refseq_ac": [
{
"id": "NP_001273663",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273663",
"type": "external"
}
],
"gene_names_uniprotkb": "CENPE",
"gene_names_refseq": "CENP-E; CENPE; KIF10; MCPH13; PPP1R61",
"protein_names_uniprotkb": "Centromere-associated protein E; CENP-E; Centromere protein E; Kinesin-7; Kinesin-related protein CENPE",
"protein_names_refseq": "Centromere autoantigen E (312kD); centromere protein E, 312kDa; centromere-associated protein E isoform 2; centromere-associated protein E; kinesin family member 10; kinesin-7; kinesin-related protein CENPE; protein phosphatase 1, regulatory subunit 61",
"tax_id": 9606,
"disease": "primary autosomal recessive microcephaly 13 (Disease Ontology:DOID:0070283)",
"pathway": " (hsa:1062); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-6811434); (R-HSA-68877); (R-HSA-9648025); (R-HSA-983189)",
"pathway_count": 11,
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"class_list": "",
"function": "A farnesyl-dependent structural role for CENP-E in expansion of the fibrous corona., [RefSeq, PubMed]; CENP-E activation by Aurora A and B controls kinetochore fibrous corona disassembly. Publication Status: Online-Only, [RefSeq, PubMed]; CKAP5 stabilizes CENP-E at kinetochores by regulating microtubule-chromosome attachments., [RefSeq, PubMed]; Centromere protein E as a novel biomarker and potential therapeutic target for retinoblastoma., [RefSeq, PubMed]; Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]., [RefSeq]; Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:23891108, PubMed:25395579, PubMed:7889940). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Transcriptomic Changes Following Partial Depletion of CENP-E in Normal Human Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A6NKY9;A8K2U7;Q4LE75",
"ec_number_list": [],
"go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0003777 microtubule motor activity;GO:0043515 kinetochore binding",
"go_cellular_component": "GO:0005828 kinetochore microtubule;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane",
"go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0051382 kinetochore assembly;GO:0007079 mitotic chromosome movement towards spindle pole;GO:0099606 microtubule plus-end directed mitotic chromosome migration",
"synthesized_glycan_count": 0,
"hit_score": 36.4,
"record_id": "Q02224-1",
"record_type": "protein",
"filter_code": "0000000.1000111.001000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UKD1-1",
"uniprot_id": [
{
"id": "GMEB2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKD1",
"type": "external"
}
],
"mass": 56421.0,
"length": 530,
"protein_name": "Glucocorticoid modulatory element-binding protein 2",
"gene_name": "GMEB2",
"organism": "Human",
"refseq_name": "glucocorticoid modulatory element-binding protein 2",
"refseq_ac": [
{
"id": "NP_036516",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036516",
"type": "external"
}
],
"gene_names_uniprotkb": "GMEB2; KIAA1269",
"gene_names_refseq": "GMEB-2; GMEB2; P79PIF; PIF79",
"protein_names_uniprotkb": "Glucocorticoid modulatory element-binding protein 2; DNA-binding protein p79PIF; GMEB-2; PIF p79; Parvovirus initiation factor p79",
"protein_names_refseq": "DNA-binding protein p79PIF; PIF p79; glucocorticoid modulatory element-binding protein 2; parvovirus initiation factor, p79",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26205)",
"pathway_count": 1,
"publication_count": 72,
"publication_id_list": "10523663;11743720;19690332;20068230;20068231;22661428;24714562;25114211;25576301;25645385;25880248;26992070;27846572;28228285;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29632711;30059200;30315122;30379171;30620550;31154438;31217245;31373491;31492838;31844290;31848261;31998317;32157095;32357974;32387766;32574038;32897882;32938616;33298915;33537174;33912179;33968037;33981976;34019948;34087483;34405274;34509645;34846842;35051231;35132862;35254053;35289036;35318648;35580925;35705054;36010968;36215666;36240223;36241641;37541260;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;41350704",
"class_list": "",
"function": "Consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters, [RefSeq, PubMed]; This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]., [RefSeq]; Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Also binds to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses., [UniProtKB]",
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"biomarker_type": "",
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"secondary_ac_list": "E1P5J3;Q5TDS0;Q9H431;Q9H4X7;Q9H4X8;Q9UF78;Q9ULF1",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin",
"go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 9.0,
"record_id": "Q9UKD1-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96LI6-1",
"uniprot_id": [
{
"id": "HSFY1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LI6",
"type": "external"
}
],
"mass": 45107.0,
"length": 401,
"protein_name": "Heat shock transcription factor, Y-linked",
"gene_name": "HSFY1; HSFY2",
"organism": "Human",
"refseq_name": "heat shock transcription factor, Y-linked isoform 2",
"refseq_ac": [
{
"id": "NP_001001877",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001877",
"type": "external"
}
],
"gene_names_uniprotkb": "HSFY1; HSFY2; HSF2L; HSFY",
"gene_names_refseq": "HSF2L; HSFY2; HSFY",
"protein_names_uniprotkb": "Heat shock transcription factor, Y-linked; HSF2-like; Heat shock transcription factor 2-like protein",
"protein_names_refseq": "heat shock transcription factor 2-like protein; heat shock transcription factor, Y-linked isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:159119); (hsa:86614)",
"pathway_count": 2,
"publication_count": 5,
"publication_id_list": "14985478;15044259;30078552;35051231;35494241",
"class_list": "",
"function": "Could have an important role in human spermatogenesis., [RefSeq, PubMed]; This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "Q17RC0;Q7Z4L8;Q9BZA2;Q9BZA3",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 0.6,
"record_id": "Q96LI6-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q13976-1",
"uniprot_id": [
{
"id": "KGP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13976",
"type": "external"
}
],
"mass": 76364.0,
"length": 671,
"protein_name": "cGMP-dependent protein kinase 1",
"gene_name": "PRKG1",
"organism": "Human",
"refseq_name": "cGMP-dependent protein kinase 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001091982",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091982",
"type": "external"
}
],
"gene_names_uniprotkb": "PRKG1; PRKG1B; PRKGR1A; PRKGR1B",
"gene_names_refseq": "AAT8; PKG1; PKG; PRKG1B; PRKG1; PRKGR1B; cGK 1; cGK1; cGKI-BETA; cGKI-alpha; cGKI; cGK",
"protein_names_uniprotkb": "cGMP-dependent protein kinase 1; 2.7.11.12; cGK 1; cGK1; cGKI; cGMP-dependent protein kinase I",
"protein_names_refseq": "cGMP-dependent protein kinase 1 isoform 1; cGMP-dependent protein kinase 1; protein kinase, cGMP-dependent, regulatory, type I, beta; protein kinase, cGMP-dependent, type I",
"tax_id": 9606,
"disease": "ciliopathy (Disease Ontology:DOID:0060340); hypertension (Disease Ontology:DOID:10763); thoracic aortic aneurysm (Disease Ontology:DOID:14004); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); hypogonadism (Disease Ontology:DOID:1924); allergic rhinitis (Disease Ontology:DOID:4481); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:5592); (R-HSA-4086398)",
"pathway_count": 2,
"publication_count": 92,
"publication_id_list": "10380924;10391246;10391247;10395542;10488343;10567269;10588714;10777564;10858654;11015615;11030334;11162591;11237011;11563835;11723116;12015605;12080049;12082086;12086864;12471263;12482967;12556497;12609995;12729560;12975316;14608379;14704854;14977528;15194681;15494017;15545263;15611108;16131665;16880514;16920709;16990611;17344846;17426020;17684012;17904578;18456304;18488142;18782776;19177143;19536106;19851316;20716671;20826808;21118996;21402151;21526164;21903638;22223895;22941947;23151663;23256519;23416699;23632248;23904219;23910461;24239458;25271401;25576301;26154972;26590425;2792381;2841328;28832583;28834231;29242379;29351928;29557506;31154438;31844290;31998317;32157095;32488085;33968037;34171305;35580925;36284347;36614110;36653376;37938771;38193459;38678552;39477875;8182057;8613202;9073455;9192852;9389482",
"class_list": "",
"function": "Anti-NSCLC role of SCN4B by negative regulation of the cGMP-PKG pathway: Integrated utilization of bioinformatics analysis and in vitro assay validation., [RefSeq, PubMed]; Association between PRKG1 gene and gene-environment interactions with pediatric asthma., [RefSeq, PubMed]; Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; Increased endogenous PKG I activity attenuates EGF-induced proliferation and migration of epithelial ovarian cancer via the MAPK/ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]., [RefSeq]; PKG1 promotes the HIV-induced proliferation, migration, and fibrosis of vascular smooth muscle cells of hemorrhoids. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates IRAG1 and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling also alters gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in the NO/cGMP signaling pathway, down-regulation of the matrix proteins osteopontin and thrombospondin-1 to limit smooth muscle cell migration and phenotype. Regulates vasodilator-stimulated phosphoprotein (VASP) functions in platelets and smooth muscle., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"function": "(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes., [UniProtKB, PubMed]; CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]., [RefSeq]; Dependency of NELF-E-SLUG-KAT2B epigenetic axis in breast cancer carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a histone acetyltransferase (HAT) to promote transcriptional activation (PubMed:8945521). Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles (PubMed:8945521). Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac) (PubMed:21131905). Also acetylates non-histone proteins, such as ACLY, MAPRE1/EB1, PLK4, RRP9/U3-55K and TBX5 (PubMed:10675335, PubMed:23001180, PubMed:23932781, PubMed:26867678, PubMed:27796307, PubMed:29174768, PubMed:9707565). Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A (PubMed:8684459). Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers (PubMed:14645221). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing (PubMed:26867678). Acetylates MAPRE1/EB1, promoting dynamic kinetochore-microtubule interactions in early mitosis (PubMed:23001180). Also acetylates spermidine (PubMed:27389534)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PCAF promotes R-loop resolution via histone acetylation., [RefSeq, PubMed]; The histone lysine acetyltransferase KAT2B inhibits cholangiocarcinoma growth: evidence for interaction with SP1 to regulate NF2-YAP signaling. Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
"id": "3.5.1.48",
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},
{
"id": "3.5.1.62",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62",
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},
{
"id": "2.3.1.259",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259",
"type": "external"
},
{
"id": "3.1.26.n2",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2",
"type": "external"
},
{
"id": "5.6.2.5",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5",
"type": "external"
},
{
"id": "2.3.1.80",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80",
"type": "external"
},
{
"id": "2.7.10.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2",
"type": "external"
},
{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
}
],
"go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008047 enzyme activator activity;GO:0019901 protein kinase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0007507 heart development;GO:0007613 memory;GO:0008285 negative regulation of cell population proliferation",
"synthesized_glycan_count": 0,
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},
{
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{
"id": "PRC2A_HUMAN",
"url": "https://www.uniprot.org/uniprot/P48634",
"type": "external"
}
],
"mass": 228863.0,
"length": 2157,
"protein_name": "Protein PRRC2A",
"gene_name": "PRRC2A",
"organism": "Human",
"refseq_name": "protein PRRC2A",
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{
"id": "NP_004629",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004629",
"type": "external"
}
],
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"gene_names_refseq": "BAT2; D6S51E; D6S51; G2; PRRC2A",
"protein_names_uniprotkb": "Protein PRRC2A; HLA-B-associated transcript 2; Large proline-rich protein BAT2; Proline-rich and coiled-coil-containing protein 2A; Protein G2",
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"tax_id": 9606,
"disease": "type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:7916)",
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"publication_id_list": "10.1101/2023.09.13.557529;14656967;14667819;15302935;15752841;16083285;16959974;17081983;17287340;17322306;18088087;18212344;18220336;18452278;18491316;18669648;18991276;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20166139;20305658;21406692;2156268;22028470;23186163;23301498;23481700;24129315;24275569;24715725;25111513;25576301;25810538;25880248;26154972;26992070;27600516;27862975;27920218;28218747;28657654;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30192525;30315122;30379171;30429286;30484775;30620550;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32862241;32897882;32938616;32938750;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36964127;37541260;38665916;39531497;39894887;40136647;40307207;40596516;8499947",
"class_list": "",
"function": "A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population., [RefSeq, PubMed]; May play a role in the regulation of pre-mRNA splicing., [UniProtKB, PubMed]; The BAT2/BAT3 polymorphisms and specifically the A/C haplotype may represent a novel immunogenetic factor associated with graft rejection in patients undergoing allo-HSCT. Erratum:[Bone Marrow Transplant. 2014 Nov;49(11):1452. Nasa, G La [corrected to La Nasa, G]], [RefSeq, PubMed]; The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B0UX77;B0UZE9;B0UZL3;O95875;Q05BK4;Q4LE37;Q5SQ29;Q5SQ30;Q5ST84;Q5STX6;Q5STX7;Q68DW9;Q6P9P7;Q6PIN1;Q8MGQ9;Q96QC6",
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},
{
"uniprot_canonical_ac": "O43610-1",
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{
"id": "SPY3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O43610",
"type": "external"
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],
"mass": 31222.0,
"length": 288,
"protein_name": "Protein sprouty homolog 3",
"gene_name": "SPRY3",
"organism": "Human",
"refseq_name": "protein sprouty homolog 3",
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{
"id": "NP_001291919",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291919",
"type": "external"
}
],
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"gene_names_refseq": "SPRY3; spry-3",
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"protein_names_refseq": "antagonist of FGF signaling; protein sprouty homolog 3; sprouty homolog 3; sprouty3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10251)",
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"publication_count": 11,
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"function": "Inhibits neurite branching, arbor length and neurite complexity (By similarity). Inhibits EGF-mediated p42/44 ERK signaling (By similarity). Negatively regulates the MAPK cascade, resulting in a reduction of extracellular matrix protein accumulation (PubMed:30878395). May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis (PubMed:9458049)., [UniProtKB, UniProtKB, PubMed, PubMed]; Sprouty3, but Not Sprouty1, Expression Is Beneficial for the Malignant Potential of Osteosarcoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Spry 1, 2 and 3 expression was observed in placental tissue from all three trimesters, [RefSeq, PubMed]; The authors presented the data that Spry3 potentiates the tumorigenic potential of glioblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A8K0H8",
"ec_number_list": [],
"go_molecular_function": "GO:0004860 protein kinase inhibitor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane",
"go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0007399 nervous system development;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway;GO:0043409 negative regulation of MAPK cascade",
"synthesized_glycan_count": 0,
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},
{
"uniprot_canonical_ac": "Q86WV1-1",
"uniprot_id": [
{
"id": "SKAP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86WV1",
"type": "external"
}
],
"mass": 41432.0,
"length": 359,
"protein_name": "Src kinase-associated phosphoprotein 1",
"gene_name": "SKAP1",
"organism": "Human",
"refseq_name": "src kinase-associated phosphoprotein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001068567",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001068567",
"type": "external"
}
],
"gene_names_uniprotkb": "SKAP1; SCAP1; SKAP55",
"gene_names_refseq": "HEL-S-81p; SCAP1; SKAP1; SKAP55",
"protein_names_uniprotkb": "Src kinase-associated phosphoprotein 1; SKAP-55; Src family-associated phosphoprotein 1; Src kinase-associated phosphoprotein of 55 kDa; pp55",
"protein_names_refseq": "SKAP-55; epididymis secretory sperm binding protein Li 81p; pp55; src family-associated phosphoprotein 1; src kinase-associated phosphoprotein 1 isoform 2; src kinase-associated phosphoprotein of 55 kDa",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8631)",
"pathway_count": 1,
"publication_count": 47,
"publication_id_list": "10856234;11237011;11909961;12171928;12652296;15849195;15939789;16461356;16980616;17658605;19690332;22424782;25576301;25880248;26992070;27335501;27862975;28218747;28832583;28904123;29242379;29437277;29493099;29557506;30379171;30429286;31320682;31844290;32157095;32357974;32502341;32983136;33141586;33592498;33717175;33912179;33936100;34295339;34932366;35538197;35580925;36908940;37511629;40914422;9195899;9671755;9748251",
"class_list": "",
"function": "Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T-cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SKAP1 Is a Novel Biomarker and Therapeutic Target for Gastric Cancer: Evidence from Expression, Functional, and Bioinformatic Analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. Publication Status: Online-Only, [RefSeq, PubMed]; THUMPD3-AS1 facilitates cell growth and aggressiveness by the miR-218-5p/SKAP1 axis in colorectal cancer. Erratum:[Cell Biochem Biophys. 2024 Mar;82(1):315. doi: 10.1007/s12013-023-01199-0. PMID: 38010601], [RefSeq, PubMed]; The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "D3DTV1;O15268",
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"go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0042169 SH2 domain binding;GO:0019903 protein phosphatase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction",
"go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050852 T cell receptor signaling pathway;GO:0045893 positive regulation of DNA-templated transcription;GO:0002250 adaptive immune response;GO:0002821 positive regulation of adaptive immune response",
"synthesized_glycan_count": 0,
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"record_id": "Q86WV1-1",
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"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "SIX5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N196",
"type": "external"
}
],
"mass": 74562.0,
"length": 739,
"protein_name": "Homeobox protein SIX5",
"gene_name": "SIX5",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "SIX5; DMAHP",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Homeobox protein SIX5; DM locus-associated homeodomain protein; Sine oculis homeobox homolog 5",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "branchiootorenal syndrome 2 (Disease Ontology:DOID:0111424); myotonic dystrophy type 1 (Disease Ontology:DOID:11722); branchiootorenal syndrome (Disease Ontology:DOID:14702)",
"pathway": " (hsa:147912)",
"pathway_count": 1,
"publication_count": 37,
"publication_id_list": "10756185;11237011;12500905;17357085;23481700;24715725;25645385;26992070;27862975;28832583;28834231;29242379;29786170;30429286;30444036;30484775;31844290;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;35051231;35580925;36010968;36241641;38665916;8595416;9949207",
"class_list": "",
"function": "Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity)., [UniProtKB]",
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:1902723 negative regulation of skeletal muscle satellite cell proliferation",
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"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96N03-1",
"uniprot_id": [
{
"id": "VTM2L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96N03",
"type": "external"
}
],
"mass": 22349.0,
"length": 204,
"protein_name": "V-set and transmembrane domain-containing protein 2-like protein",
"gene_name": "VSTM2L",
"organism": "Human",
"refseq_name": "V-set and transmembrane domain-containing protein 2-like protein precursor",
"refseq_ac": [
{
"id": "NP_542174",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542174",
"type": "external"
}
],
"gene_names_uniprotkb": "VSTM2L; C20orf102",
"gene_names_refseq": "C20orf102; VSTM2L; dJ1118M15.2",
"protein_names_uniprotkb": "V-set and transmembrane domain-containing protein 2-like protein",
"protein_names_refseq": "V-set and transmembrane domain-containing protein 2-like protein precursor; V-set and transmembrane domain-containing protein 2-like protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:128434)",
"pathway_count": 1,
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"publication_id_list": "18767875;21393573;25576301;32938616;33506057;33968037;37030064",
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"function": "High Expression of VSTM2L Induced Resistance to Chemoradiotherapy in Rectal Cancer through Downstream IL-4 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; VSTM2L contributes to anoikis resistance and acts as a novel biomarker for metastasis and clinical outcome in ovarian cancer., [RefSeq, PubMed]; VSTM2L is the first example of a secreted antagonist of humanin (HN) and may play a role in the modulation of HN biological function., [RefSeq, PubMed]",
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{
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"protein_name": "Carotenoid-cleaving dioxygenase, mitochondrial",
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{
"id": "NP_001032367",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032367",
"type": "external"
}
],
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"gene_names_refseq": "B-DIOX-II; BCDO2; BCO2",
"protein_names_uniprotkb": "Carotenoid-cleaving dioxygenase, mitochondrial; 1.13.11.-; 1.13.11.71; B-diox-II; Beta,beta-carotene 9',10'-oxygenase; Beta-carotene dioxygenase 2",
"protein_names_refseq": "b,b-carotene-9',10'-dioxygenase; beta,beta-carotene 9',10'-oxygenase; beta-carotene 9',10' oxygenase; beta-carotene dioxygenase 2; carotenoid-9',10'-cleaving dioxygenase; carotenoid-cleaving dioxygenase, mitochondrial isoform b; carotenoid-cleaving dioxygenase, mitochondrial",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:83875); (R-HSA-975634)",
"pathway_count": 2,
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"publication_id_list": "10052934;10769148;11060341;11181758;11237011;11274389;11278918;1279089;15358783;1542003;15583000;15983114;16200213;16939223;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19139408;21106934;21851338;24106281;24715725;27406826;2793848;28228285;30379171;31250580;31530632;31844290;32035229;32061750;32873706;33981976;35051231;3714052;3942763;39531497;39894887;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9888420;9920938;9925661",
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"function": "Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke, [RefSeq, PubMed]; Broad specificity mitochondrial dioxygenase that mediates the asymmetric oxidative cleavage of carotenoids. Cleaves carotenes (pure hydrocarbon carotenoids) such as all-trans-beta-carotene and lycopene as well as xanthophylls (oxygenated carotenoids) such as zeaxanthin, lutein and beta-cryptoxanthin at both the 9,10 and the 9',10' carbon-carbon double bond. Through its function in carotenoids metabolism regulates oxidative stress and the production of important signaling molecules., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Enzymology of vertebrate carotenoid oxygenases. Review article, [RefSeq, PubMed]; Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases. Review article, [RefSeq, PubMed]; Study identifies BCO2 as a tumor suppressor in prostate cancer which mediates inhibition of NF-kB signaling. Its expression is decreased in human prostate cancer., [RefSeq, PubMed]; The human mitochondrial enzyme BCO2 exhibits catalytic activity toward carotenoids and apocarotenoids., [RefSeq, PubMed]; This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-",
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{
"id": "1.13.11.71",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.71",
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],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0003834 beta-carotene 15,15'-dioxygenase activity;GO:0010436 carotenoid dioxygenase activity;GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;GO:0102076 beta,beta-carotene-9',10'-cleaving oxygenase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix",
"go_biological_process": "GO:0051881 regulation of mitochondrial membrane potential;GO:0042573 retinoic acid metabolic process;GO:0042574 retinal metabolic process;GO:2000377 regulation of reactive oxygen species metabolic process;GO:0016116 carotenoid metabolic process",
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},
{
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{
"id": "CBPM_HUMAN",
"url": "https://www.uniprot.org/uniprot/P14384",
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],
"mass": 50514.0,
"length": 443,
"protein_name": "Carboxypeptidase M",
"gene_name": "CPM",
"organism": "Human",
"refseq_name": "carboxypeptidase M isoform b precursor",
"refseq_ac": [
{
"id": "NP_001005502",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502",
"type": "external"
}
],
"gene_names_uniprotkb": "CPM",
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"protein_names_uniprotkb": "Carboxypeptidase M; 3.4.17.12; CPM",
"protein_names_refseq": "carboxypeptidase M isoform b precursor; renal carboxypeptidase; urinary carboxypeptidase B",
"tax_id": 9606,
"disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); endometrial cancer (Disease Ontology:DOID:1380); anterior uveitis (Disease Ontology:DOID:1407); ovarian cancer (Disease Ontology:DOID:2394); nephrosis (Disease Ontology:DOID:2527); glomerulonephritis (Disease Ontology:DOID:2921); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); myocardial infarction (Disease Ontology:DOID:5844); neuromyelitis optica (Disease Ontology:DOID:8869); diabetic retinopathy (Disease Ontology:DOID:8947)",
"pathway": " (hsa:1368); (R-HSA-163125)",
"pathway_count": 2,
"publication_count": 44,
"publication_id_list": "10.1101/2023.09.13.557529;11072085;11147789;11237011;11934264;12457462;15066430;18512783;19159218;23090970;24190977;2443973;26992070;27452731;2753907;27600516;27726376;28186967;29242379;29314611;29557506;29769354;29789417;30429286;30674606;30833945;31218444;31848261;32157095;32387766;32983136;33043033;33214551;33392160;33592498;3422494;34509645;35051231;35580925;36010968;36215666;37074911;38713087;8245441",
"class_list": "",
"function": "Carboxypeptidase M modulates BMSCs osteogenesis-adipogenesis via the MAPK/ERK pathway: An integrated single-cell and bulk transcriptomic study., [RefSeq, PubMed]; Low CPM expression is associated with colorectal cancer., [RefSeq, PubMed]; Our work shows for the first time that the interaction between CPM and kinin B1 receptor alters not only B1R pharmacology, but also modulates enzyme expression and activity., [RefSeq, PubMed]; Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins., [UniProtKB, PubMed]; The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The rs12812500 variant of the CPM gene may increase silicosis susceptibility by affecting the expression of CPM, which may contribute to silicosis susceptibility with biological plausibility., [RefSeq, PubMed]",
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{
"id": "3.4.11.9",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9",
"type": "external"
},
{
"id": "3.5.1.92",
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{
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},
{
"id": "3.9.1.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1",
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{
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{
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{
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0004180 carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0016485 protein processing;GO:0006518 peptide metabolic process;GO:0009653 anatomical structure morphogenesis;GO:0006508 proteolysis",
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},
{
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],
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"length": 736,
"protein_name": "Transcription regulator protein BACH1",
"gene_name": "BACH1",
"organism": "Human",
"refseq_name": "transcription regulator protein BACH1",
"refseq_ac": [
{
"id": "NP_001177",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177",
"type": "external"
}
],
"gene_names_uniprotkb": "BACH1",
"gene_names_refseq": "BACH-1; BACH1; BTBD24",
"protein_names_uniprotkb": "Transcription regulator protein BACH1; BTB and CNC homolog 1; HA2303",
"protein_names_refseq": "BTB and CNC homology 1, basic leucine zipper transcription factor 1; basic region leucine zipper transcriptional regulator BACH1; transcription regulator protein BACH1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:571); (R-HSA-9707587); (R-HSA-9707616); (R-HSA-9708530); (R-HSA-9818027)",
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"publication_id_list": "10198158;10381560;10706635;10733945;10821856;11237011;11309284;11387216;12130498;12234984;12235164;12356737;12506115;12511571;15175654;15302935;15448164;15520857;15590625;15665827;15728556;15761026;15855052;16314513;16964243;17234762;17430897;17942419;18006707;18037887;18452278;18669648;19028565;19273602;19608619;19710360;19897490;20068231;20460467;20581824;20817722;21479263;21775727;22667998;22995213;23027624;23186163;24035498;24041992;24714562;24958774;25002527;2539258;26375851;26728094;26811146;26992070;27100828;27397612;27653015;27754849;27756681;28111073;28218747;28832583;28834231;28985506;29155886;29393594;29437277;29557506;29693710;29959055;30410026;30779550;30833945;31154438;31217245;31597407;31748741;31844290;31848261;32157095;32161166;32284348;32354867;32387766;32601262;32695117;32897882;32938616;32983136;33043019;33392160;3345742;33462411;33774477;33912179;33968037;34561969;35051231;35580925;36284347;37938771;38767507;38805570;39182017;39504958;7959763;8415693;8622974;8887638;9079689;9144434;9240432;9479503;9544839",
"class_list": "",
"function": "Her2 amplification, Rel-A, and Bach1 can influence APOBEC3A expression in breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of BACH1 improves osteogenic differentiation in glucocorticoid-induced hBMSCs through restoring autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Role of BACH1 in multiple myeloma., [RefSeq, PubMed]; This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]., [RefSeq]; Transcriptional regulator that acts as a repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Plays important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498)., [UniProtKB, PubMed, UniProtKB, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
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{
"id": "ESRP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6NXG1",
"type": "external"
}
],
"mass": 75585.0,
"length": 681,
"protein_name": "Epithelial splicing regulatory protein 1",
"gene_name": "ESRP1",
"organism": "Human",
"refseq_name": "epithelial splicing regulatory protein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001030087",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030087",
"type": "external"
}
],
"gene_names_uniprotkb": "ESRP1; RBM35A",
"gene_names_refseq": "DFNB109; ESRP1; RBM35A; RMB35A",
"protein_names_uniprotkb": "Epithelial splicing regulatory protein 1; RNA-binding motif protein 35A; RNA-binding protein 35A",
"protein_names_refseq": "RNA-binding motif protein 35A; RNA-binding protein 35A; epithelial splicing regulatory protein 1 isoform 2",
"tax_id": 9606,
"disease": "autosomal recessive nonsyndromic deafness 109 (Disease Ontology:DOID:0111639)",
"pathway": " (hsa:54845); (R-HSA-6802952); (R-HSA-6803529)",
"pathway_count": 3,
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"publication_id_list": "10938105;10982855;11237011;12393912;15601847;15630448;16410617;16449636;16603716;17145811;17959601;18573884;18974108;1906035;19177006;19285943;19829082;20526349;21424530;22745804;23583981;24129315;24135138;24345920;25204415;25576301;25907612;29107558;29242379;29331515;29557506;29786170;29789417;31844290;32157095;33981976;34087483;35051231;35318648;35580925;36215666;36241641;36284347;37027295;37966490;38015468;39127164;9271388;9858549",
"class_list": "",
"function": "ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]., [RefSeq]; ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing., [RefSeq, PubMed]; ESRP1 controls biogenesis and function of a large abundant multiexon circRNA., [RefSeq, PubMed]; Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA., [RefSeq, PubMed]; Potential impact of epithelial splicing regulatory protein 1 (ESRP1) associated with tumor immunity in pancreatic adenocarcinoma., [RefSeq, PubMed]; Results demonstrate that RBM35A functions as a tumor suppressor in colon cancer cells, and suggest that RBM35A is involved in posttranscriptional regulation of a number of genes by exerting a differential effect on protein translation via 5'UTRs of mRNAs., [RefSeq, PubMed]; Results further establish ESRP1 and ESRP2 as global regulators of an epithelial splicing regulatory network., [RefSeq, PubMed]; Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis., [RefSeq, PubMed]; The FLJ20171 gene was shown to effectively separate these two chromophobe renal cell carcinoma (RCC) and benign oncocytoma groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues., [RefSeq, PubMed]; mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]",
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"secondary_ac_list": "A6NHA8;A8MPX1;E9PB47;Q2M2B0;Q499G3;Q6PJ86;Q9NXL8",
"ec_number_list": [],
"go_molecular_function": "GO:0003729 mRNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:1990904 ribonucleoprotein complex",
"go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing;GO:0042669 regulation of inner ear auditory receptor cell fate specification",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96IJ6-1",
"uniprot_id": [
{
"id": "GMPPA_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96IJ6",
"type": "external"
}
],
"mass": 46291.0,
"length": 420,
"protein_name": "Mannose-1-phosphate guanylyltransferase regulatory subunit alpha",
"gene_name": "GMPPA",
"organism": "Human",
"refseq_name": "mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1",
"refseq_ac": [
{
"id": "NP_037467",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_037467",
"type": "external"
}
],
"gene_names_uniprotkb": "GMPPA",
"gene_names_refseq": "AAMR; GMPPA",
"protein_names_uniprotkb": "Mannose-1-phosphate guanylyltransferase regulatory subunit alpha; GDP-mannose pyrophosphorylase A; GMPP-alpha; GTP-mannose-1-phosphate guanylyltransferase alpha",
"protein_names_refseq": "GMPP-alpha; GTP-mannose-1-phosphate guanylyltransferase alpha; epididymis secretory sperm binding protein; mannose-1-phosphate guanylyltransferase (GDP); mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1; mannose-1-phosphate guanylyltransferase regulatory subunit alpha",
"tax_id": 9606,
"disease": "alacrima, achalasia, and impaired intellectual development syndrome (Disease Ontology:DOID:0112321)",
"pathway": " (hsa:29926); (R-HSA-446205)",
"pathway_count": 2,
"publication_count": 85,
"publication_id_list": "10.1101/2023.09.13.557529;10980531;11082198;11237011;16540464;22424782;23481700;24035193;24714562;25576301;25645385;26154972;26375851;26728094;26992070;27846572;27862975;27920218;28121444;28218747;28228285;28514659;28574218;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29593478;29769354;29786170;30315122;30379171;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;33986552;34087483;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;38665916;5946626;8307007;9070917;9119384;9140401",
"class_list": "glycogene",
"function": "Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder., [RefSeq, PubMed]; GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself., [RefSeq, PubMed]; Regulatory subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex; reduces the catalytic activity of GMPPB when part of the complex (PubMed:24035193, PubMed:33986552). Mediates allosteric feedback inhibition of GMPPB catalytic activity upon binding GDP-alpha-D-mannose (PubMed:24035193, PubMed:33986552). Together with GMPPB regulates GDP-alpha-D-mannose levels (PubMed:33986552)., [UniProtKB, PubMed, PubMed]; This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A6NJ74;A8K3Q6;B3KMT4;Q53GI0;Q9NWC3;Q9Y5P5",
"ec_number_list": [],
"go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0016740 transferase activity;GO:0140299 molecular sensor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0120508 GDP-mannose pyrophosphorylase complex",
"go_biological_process": "GO:0009298 GDP-mannose biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 9.0,
"record_id": "Q96IJ6-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.000.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NYA3-1",
"uniprot_id": [
{
"id": "GOG6A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NYA3",
"type": "external"
}
],
"mass": 79946.0,
"length": 693,
"protein_name": "Golgin subfamily A member 6A",
"gene_name": "GOLGA6A",
"organism": "Human",
"refseq_name": "golgin subfamily A member 6A",
"refseq_ac": [
{
"id": "NP_001033729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033729",
"type": "external"
}
],
"gene_names_uniprotkb": "GOLGA6A; GLP; GOLGA6",
"gene_names_refseq": "GLP; GOLGA6A; GOLGA6",
"protein_names_uniprotkb": "Golgin subfamily A member 6A; Golgin linked to PML; Golgin-like protein",
"protein_names_refseq": "Golgin linked to PML; golgi autoantigen, golgin subfamily a, 6A; golgi autoantigen, golgin subfamily a, member 6; golgin subfamily A member 6A; golgin-like protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:342096)",
"pathway_count": 1,
"publication_count": 7,
"publication_id_list": "11161787;32938616;33968037;34087483;34509645;35051231;35580925",
"class_list": "",
"function": "The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 1,
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"secondary_ac_list": "A8K959;Q9NYA7",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna",
"go_biological_process": "GO:0007030 Golgi organization",
"synthesized_glycan_count": 0,
"hit_score": 0.8,
"record_id": "Q9NYA3-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UKJ3-1",
"uniprot_id": [
{
"id": "GPTC8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKJ3",
"type": "external"
}
],
"mass": 164197.0,
"length": 1502,
"protein_name": "G patch domain-containing protein 8",
"gene_name": "GPATCH8",
"organism": "Human",
"refseq_name": "G patch domain-containing protein 8 isoform 1",
"refseq_ac": [
{
"id": "NP_001002909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002909",
"type": "external"
}
],
"gene_names_uniprotkb": "GPATCH8; GPATC8; KIAA0553",
"gene_names_refseq": "GPATC8; GPATCH8; KIAA0553",
"protein_names_uniprotkb": "G patch domain-containing protein 8",
"protein_names_refseq": "G patch domain-containing protein 8 isoform 1; g patch domain-containing protein 8",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23131)",
"pathway_count": 1,
"publication_count": 74,
"publication_id_list": "10477733;11237011;15302935;16565220;17081983;17287340;17322306;17525332;18452278;18669648;18707149;18767875;19007248;19413330;19651622;19664995;19690332;19913121;20068231;20628086;21406692;21594610;22645359;23186163;23481700;24275569;24714562;24715725;25505266;25576301;26375851;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29493099;29508533;29557506;30315122;30379171;30429286;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33912179;33968037;34019948;34211107;35051231;35318648;35580925;36010968;36284347;37217939;37938771;38688280",
"class_list": "",
"function": "GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]., [RefSeq]; Two missense single-nucleotide variants in ZPBP2 and GPATCH8 on chromosome 17 were identified that cosegregated with hyperuricemia in the Japanese family., [RefSeq, PubMed]",
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"secondary_ac_list": "B9EGP9;O60300;Q8TB99",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 7.8,
"record_id": "Q9UKJ3-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P60371-1",
"uniprot_id": [
{
"id": "KR106_HUMAN",
"url": "https://www.uniprot.org/uniprot/P60371",
"type": "external"
}
],
"mass": 36781.0,
"length": 365,
"protein_name": "Keratin-associated protein 10-6",
"gene_name": "KRTAP10-6",
"organism": "Human",
"refseq_name": "keratin-associated protein 10-6",
"refseq_ac": [
{
"id": "NP_941961",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_941961",
"type": "external"
}
],
"gene_names_uniprotkb": "KRTAP10-6; KAP10.6; KAP18-6; KRTAP10.6; KRTAP18-6; KRTAP18.6",
"gene_names_refseq": "KAP10.6; KAP18.6; KRTAP10-6; KRTAP18-6; KRTAP18.6",
"protein_names_uniprotkb": "Keratin-associated protein 10-6; High sulfur keratin-associated protein 10.6; Keratin-associated protein 10.6; Keratin-associated protein 18-6; Keratin-associated protein 18.6",
"protein_names_refseq": "high sulfur keratin-associated protein 10.6; keratin associated protein 18-6; keratin-associated protein 10-6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:386674); (R-HSA-6805567)",
"pathway_count": 2,
"publication_count": 12,
"publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612",
"class_list": "",
"function": "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., [UniProtKB]",
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 1.3,
"record_id": "P60371-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "A1L190-1",
"uniprot_id": [
{
"id": "SYCE3_HUMAN",
"url": "https://www.uniprot.org/uniprot/A1L190",
"type": "external"
}
],
"mass": 10601.0,
"length": 88,
"protein_name": "Synaptonemal complex central element protein 3",
"gene_name": "SYCE3",
"organism": "Human",
"refseq_name": "synaptonemal complex central element protein 3",
"refseq_ac": [
{
"id": "NP_001116697",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116697",
"type": "external"
}
],
"gene_names_uniprotkb": "SYCE3; C22orf41; THEG2",
"gene_names_refseq": "C22orf41; SYCE3; THEG2",
"protein_names_uniprotkb": "Synaptonemal complex central element protein 3; THEG-2; Testis highly expressed gene 2 protein",
"protein_names_refseq": "synaptonemal complex central element protein 3; testis highly expressed gene 2 protein; testis highly expressed protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:644186); (R-HSA-1221632)",
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"class_list": "",
"function": "Cloning and expression analysis of a similar gene in mouse., [RefSeq, PubMed]; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase (PubMed:36635604). Required for the assembly of the central element of the synaptonemal complex during meiosis, via remodeling of SYCP1 lattice structures and promoting recruitment of SYCE2-TEX12 and SYCE1-SIX60S1 complexes (PubMed:36635604). Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes (By similarity). Chromosome loading appears to require SYCP1 (By similarity). Required for fertility and normal testis development (By similarity)., [UniProtKB, UniProtKB, PubMed]",
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"go_biological_process": "GO:0007283 spermatogenesis;GO:0051301 cell division;GO:0007130 synaptonemal complex assembly;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination",
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},
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{
"id": "BDH_HUMAN",
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"protein_name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial",
"gene_name": "BDH1",
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"refseq_name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor",
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{
"id": "NP_004042",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042",
"type": "external"
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],
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"protein_names_uniprotkb": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial; 1.1.1.30; 3-hydroxybutyrate dehydrogenase; BDH; Short chain dehydrogenase/reductase family 9C member 1",
"protein_names_refseq": "(R)-3-hydroxybutyrate dehydrogenase; 3-hydroxybutyrate dehydrogenase (heart, mitochondrial); 3-hydroxybutyrate dehydrogenase, type 1; D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor; D-beta-hydroxybutyrate dehydrogenase, mitochondrial; epididymis secretory sperm binding protein; short chain dehydrogenase/reductase family 9C member 1",
"tax_id": 9606,
"disease": "chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); COVID-19 (Disease Ontology:DOID:0080600); hyperthyroidism (Disease Ontology:DOID:7998)",
"pathway": " (hsa:622); (R-HSA-77108); (R-HSA-77111); (R-HSA-9837999)",
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"function": "D-beta-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced Atherosclerosis through the Activation of Nrf2., [RefSeq, PubMed]; Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and clinical significance of BDH1 in liver cancer., [RefSeq, PubMed]; MTA2 triggered R-loop trans-regulates BDH1-mediated beta-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]",
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],
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"go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0099617 matrix side of mitochondrial inner membrane;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane",
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],
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"protein_name": "Matrilin-2",
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"organism": "Human",
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"gene_names_refseq": "MATN2",
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"protein_names_refseq": "matrilin-2 isoform c precursor; testis tissue sperm-binding protein Li 94mP",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4147)",
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"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11124542;11237011;11852232;12975309;17525332;23481700;23584533;25813380;25892735;26992070;29557506;30459171;31844290;32046115;32157095;32387766;32488085;32938616;33592498;33633437;33968037;34019948;34171305;35051231;35274748;35318648;37074911;37938771;38235996;38253038;38568332;38665916;9083061",
"class_list": "",
"function": "Extracellular matrix changes in corneal opacification vary depending on etiology. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in matrix assembly., [UniProtKB]; Low expression of TGF-beta2 and matrilin2 in human aqueous humour with acute primary angle closure., [RefSeq, PubMed]; MATN2 overexpression suppresses tumor growth in ovarian cancer via PTEN/PI3K/AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Matrilin-2, a filament-forming protein widely distributed in extracellular matrices., [RefSeq, PubMed]; Mechanistic Roles of Matrilin-2 and Klotho in Modulating the Inflammatory Activity of Human Aortic Valve Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Peritumoral matrilin-2 staining may be useful in distinguishing basal cell carcinoma from folliculocentric basaloid proliferation., [RefSeq, PubMed]; This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent",
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"protein_names_refseq": "EGF-like protein 3; EGF-like-domain, multiple 3; epidermal growth factor-like protein 3; multiple EGF-like domains protein 6; multiple epidermal growth factor-like domains protein 6 isoform 1 precursor; multiple epidermal growth factor-like domains protein 6",
"tax_id": 9606,
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"publication_id_list": "10.1101/2023.09.13.557529;11237011;27846572;28218747;29719292;30451992;30459171;30524438;31844290;32938616;33026655;34171305;34411563;36241641;37074911;9693030",
"class_list": "",
"function": "A role for the MEGF6 gene in predisposition to osteoporosis., [RefSeq, PubMed]; MEGF6 accelerated Colorectal Cancer cell growth and inhibited apoptosis, and promoted Colorectal Cancer metastasis by inducing the Epithelial-to-Mesenchymal Transition., [RefSeq, PubMed]",
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"secondary_ac_list": "Q4AC86;Q5VV39",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane",
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},
{
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],
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"protein_name": "Zinc finger protein 40",
"gene_name": "HIVEP1",
"organism": "Human",
"refseq_name": "zinc finger protein 40",
"refseq_ac": [
{
"id": "NP_002105",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002105",
"type": "external"
}
],
"gene_names_uniprotkb": "HIVEP1; ZNF40",
"gene_names_refseq": "CIRIP; CRYBP1; GAAP; HIVEP1; MBP-1; PRDII-BF1; Schnurri-1; ZAS1; ZNF40A; ZNF40",
"protein_names_uniprotkb": "Zinc finger protein 40; CIRIP; Cirhin interaction protein; GAAP; Gate keeper of apoptosis-activating protein; HIV-EP1; Human immunodeficiency virus type I enhancer-binding protein 1; MBP-1; Major histocompatibility complex-binding protein 1; PRDII-BF1; Positive regulatory domain II-binding factor 1",
"protein_names_refseq": "cirhin interaction protein; gate keeper of apoptosis-activating protein; human immunodeficiency virus type I enhancer binding protein 1; major histocompatibility complex binding protein 1; positive regulatory domain II binding factor 1; zinc finger protein 40",
"tax_id": 9606,
"disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); Alzheimer's disease (Disease Ontology:DOID:10652)",
"pathway": " (hsa:3096)",
"pathway_count": 1,
"publication_count": 60,
"publication_id_list": "11237011;11818340;1567844;16394016;17081983;1727488;18669648;19690332;19732766;20068230;20068231;20305658;2106471;2108316;22299025;2248949;23186163;23301498;23481700;23975832;25892735;26375851;27452731;27920218;28228285;28514659;28657654;28832583;28834231;29237092;29242379;29508533;29632046;29632711;29786170;30059200;30315122;30429286;30524438;30620550;30779550;31492838;31637018;32574038;33214551;34019948;34185709;34846842;35132862;35254053;35289036;35513511;37340703;37541260;38665916;39302247;39531497;39534244;40136647;8289330",
"class_list": "",
"function": "Downregulation of tumor suppressor MBP-1 by microRNA-363 in gastric carcinogenesis., [RefSeq, PubMed]; This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]., [RefSeq]; 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., [UniProtKB]",
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"reported_phosphosites": 27,
"reported_mutagensis": 0,
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"reported_snv": 153,
"reported_interactions": 0,
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"biomarker_type": "",
"glycan_count": 1,
"disease_count": 2,
"glyco_site_count": 72,
"binding_glycan_count": 0,
"secondary_ac_list": "B2RTU3;Q14122;Q5MPB1;Q5VW60",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030509 BMP signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 13.2,
"record_id": "P15822-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H165-1",
"uniprot_id": [
{
"id": "BC11A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H165",
"type": "external"
}
],
"mass": 91197.0,
"length": 835,
"protein_name": "BCL11 transcription factor A",
"gene_name": "BCL11A",
"organism": "Human",
"refseq_name": "BCL11 transcription factor A isoform 2",
"refseq_ac": [
{
"id": "NP_060484",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060484",
"type": "external"
}
],
"gene_names_uniprotkb": "BCL11A; CTIP1; EVI9; KIAA1809; ZNF856",
"gene_names_refseq": "BCL11A; CTIP1; DILOS; EVI9; HBFQTL5; SMARCM1; ZNF856",
"protein_names_uniprotkb": "BCL11 transcription factor A; B-cell CLL/lymphoma 11A; B-cell lymphoma/leukemia 11A; BCL-11A; COUP-TF-interacting protein 1; EVI-9; Ecotropic viral integration site 9 protein homolog; Zinc finger protein 856",
"protein_names_refseq": "B cell CLL/lymphoma 11A; B-cell CLL/lymphoma 11A (zinc finger protein); B-cell lymphoma/leukemia 11A; BAF chromatin remodeling complex subunit BCL11A; BCL11 transcription factor A isoform 2; BCL11A B-cell CLL/lymphoma 11A (zinc finger protein); BCL11A, BAF complex component; C2H2-type zinc finger protein; COUP-TF-interacting protein 1; ecotropic viral integration site 9 homolog; ecotropic viral integration site 9 protein homolog; zinc finger protein 856",
"tax_id": 9606,
"disease": "specific developmental disorder (Disease Ontology:DOID:0060038); autism spectrum disorder (Disease Ontology:DOID:0060041); sickle cell anemia (Disease Ontology:DOID:10923); beta thalassemia (Disease Ontology:DOID:12241); neurodegenerative disease (Disease Ontology:DOID:1289); lung non-small cell carcinoma (Disease Ontology:DOID:3908); schizophrenia (Disease Ontology:DOID:5419); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Dias-Logan syndrome (MONDO:MONDO:0014914)",
"pathway": " (hsa:53335); (R-HSA-9700645); (R-HSA-9725370); (R-HSA-9933946); (R-HSA-9934037)",
"pathway_count": 5,
"publication_count": 159,
"publication_id_list": "10216106;10556217;10702393;10706082;10706887;10934142;11110708;11161790;11237011;11280786;11310834;11504915;11719382;11751994;11850821;11943732;11988758;12112524;12185581;12368262;12424201;12750159;12800156;12920229;12934099;14962911;15169778;15208656;15374880;15588951;15895073;16153455;16161041;16170336;16704730;16825495;16871283;16939498;16959974;17086210;17185414;17353907;17416736;17483340;17625570;17640523;17767159;18097461;18452557;18593892;18594010;18701132;18724359;18923523;18923524;18923525;19369195;19413330;19456272;19459784;19690332;20454865;21134980;21164297;21213368;21415216;21494621;21502504;21596819;21656749;21838707;21847362;21948233;22249260;22327622;22347464;22570254;22658521;23104988;23139213;23201355;23239810;23644491;23661334;23785148;23957430;24060861;24445538;24475247;24496003;24518094;24613930;24675041;24736082;25228534;25342631;25393796;25418920;25421750;25576301;25755297;25813404;25921060;26001147;26062823;26301689;26375765;26464158;26601204;26939704;26992070;27245569;27453576;27573755;27874193;27920218;28404650;28659337;28741662;28832583;28834231;28904123;29242379;29393594;29455642;29557506;29606353;29632711;29873274;30131584;30250039;30315122;30379171;30692217;31366041;31388026;31844290;32357974;32897882;33298915;33691108;33912179;33936100;33968037;34509645;35051231;35494241;35580925;35739577;36584999;37148312;37895276;38364109;38939975;39423807;39607926;7824924;8633037;9819383",
"class_list": "",
"function": "Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to gamma-Globin Gene Promoter Sequences. Publication Status: Online-Only, [RefSeq, PubMed]; Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients., [RefSeq, PubMed]; Let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching., [RefSeq, PubMed]; RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines., [RefSeq, PubMed]; This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353, PubMed:39423807). Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal hemoglobin (HbF) level (PubMed:26375765, PubMed:29606353, PubMed:39423807, PubMed:39607926). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis (By similarity). Essential factor in lymphopoiesis required for B-cell formation in fetal liver (By similarity). May function as a modulator of the transcriptional repression activity of NR2F2 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [Genetic analysis of a family with BCL11A-related intellectual disability]., [RefSeq, PubMed]",
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"biomarker_type": "",
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"secondary_ac_list": "D6W5D7;Q66LN6;Q86W14;Q8WU92;Q96JL6;Q9H163;Q9H164;Q9H3G9;Q9NWA7",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016514 SWI/SNF complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0010976 positive regulation of neuron projection development",
"synthesized_glycan_count": 0,
"hit_score": 16.2,
"record_id": "Q9H165-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "A6QL63-1",
"uniprot_id": [
{
"id": "ABTB3_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6QL63",
"type": "external"
}
],
"mass": 120884.0,
"length": 1104,
"protein_name": "Ankyrin repeat- and BTB/POZ domain-containing protein 3",
"gene_name": "ABTB3",
"organism": "Human",
"refseq_name": "ankyrin repeat- and BTB/POZ domain-containing protein 3 isoform b",
"refseq_ac": [
{
"id": "NP_001017523",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017523",
"type": "external"
}
],
"gene_names_uniprotkb": "ABTB3; BTBD11",
"gene_names_refseq": "ABTB2B; ABTB3; BTBD11",
"protein_names_uniprotkb": "Ankyrin repeat- and BTB/POZ domain-containing protein 3; BTB/POZ domain-containing protein 11",
"protein_names_refseq": "ANK-repeat BTB domain containing protein; BTB (POZ) domain containing 11; BTB domain containing 11; BTB/POZ domain-containing protein 11; ankyrin repeat and BTB/POZ domain-containing protein 3; ankyrin repeat and BTB/POZ domain-containing protein BTBD11; ankyrin repeat- and BTB/POZ domain-containing protein 3 isoform b",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:121551)",
"pathway_count": 1,
"publication_count": 17,
"publication_id_list": "11237011;23481700;28411811;28832583;29557506;29769354;30379171;30429286;31848261;32157095;32265295;33981976;35051231;35132862;35494241;36010968;36241641",
"class_list": "",
"function": "Cortical and hippocampal inhibitory interneuron-specific protein localized at glutamatergic (excitatory) synapses, where it supports cell type-specific synaptic function., [UniProtKB, UniProtKB]",
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"secondary_ac_list": "A4FU41;B3KXG3;C9J019;C9JK80;E9PHS4;Q3ZTQ4;Q52M89;Q6ZV99;Q8N245",
"ec_number_list": [],
"go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0030165 PDZ domain binding",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0016020 membrane",
"go_biological_process": "",
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},
{
"uniprot_canonical_ac": "P56817-1",
"uniprot_id": [
{
"id": "BACE1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P56817",
"type": "external"
}
],
"mass": 55764.0,
"length": 501,
"protein_name": "Beta-secretase 1",
"gene_name": "BACE1",
"organism": "Human",
"refseq_name": "beta-secretase 1 isoform F",
"refseq_ac": [
{
"id": "NP_001193978",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193978",
"type": "external"
}
],
"gene_names_uniprotkb": "BACE1; BACE; KIAA1149",
"gene_names_refseq": "ASP2; BACE1; BACE; HSPC104",
"protein_names_uniprotkb": "Beta-secretase 1; 3.4.23.46; ASP2; Asp 2; Aspartyl protease 2; Beta-site APP cleaving enzyme 1; Beta-site amyloid precursor protein cleaving enzyme 1; Memapsin-2; Membrane-associated aspartic protease 2",
"protein_names_refseq": "APP beta-secretase; asp 2; aspartyl protease 2; beta-secretase 1 isoform F; beta-site APP cleaving enzyme 1; beta-site APP-cleaving enzyme; beta-site amyloid beta A4 precursor protein-cleaving enzyme; memapsin-2; membrane-associated aspartic protease 2; transmembrane aspartic proteinase Asp2",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652); dementia (Disease Ontology:DOID:1307); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); sensory peripheral neuropathy (Disease Ontology:DOID:2491); schizophrenia (Disease Ontology:DOID:5419)",
"pathway": " (hsa:23621); (R-HSA-977225)",
"pathway_count": 2,
"publication_count": 115,
"publication_id_list": "10.1101/2023.09.13.557529;10097139;10319874;10391242;10411933;10531052;10583407;10591213;10591214;10656250;10677483;10887202;10956649;11021803;11083922;11237011;11278492;11278841;11401442;11466313;11467836;11516562;11590439;11860271;118839;11953458;12206667;12454989;1270801;14506261;14567678;15034149;15064394;15096037;15286784;15451669;15615712;15628850;15886016;15962837;16033761;16174740;16407538;16799559;16965550;16979658;17425515;18065497;18070888;1837051;18449172;18484335;1849145;18660751;19011241;19658395;19828817;20354142;20484053;20676056;20807650;20826464;2118650;2195544;22065755;22131221;22621900;23109336;23813966;2409350;24833601;24893886;25523424;25663301;26018760;26417681;26668317;26686862;26807092;27084579;27179792;27302062;279930;2900981;29142073;3035556;30429286;3053705;3080684;3094007;3142462;31844290;32387766;32938616;33298915;33592498;33912179;33968037;34087483;35051231;3675579;38253038;38856925;38868939;39125924;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427",
"class_list": "",
"function": "Alternative splicing in the BACE-1 5'UTR affects the efficiency of translation initiation Publication Status: Online-Only, [RefSeq, PubMed]; Associations of CSF BACE1 with amyloid pathology, neurodegeneration, and cognition in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Cerebrovascular Endothelial Dysfunction: Role of BACE1. Review article, [RefSeq, PubMed]; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Serum Beta-Secretase 1 Activity Is a Potential Marker for the Differential Diagnosis between Alzheimer's Disease and Frontotemporal Dementia: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]., [RefSeq]",
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"secondary_ac_list": "A0M8W7;B0YIU9;E9PE65;H7BXJ9;Q9BYB9;Q9BYC0;Q9BYC1;Q9UJT5;Q9ULS1",
"ec_number_list": [
{
"id": "3.4.21.75",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75",
"type": "external"
},
{
"id": "3.4.23.46",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.46",
"type": "external"
},
{
"id": "2.3.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
"type": "external"
},
{
"id": "2.3.1.80",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80",
"type": "external"
}
],
"go_molecular_function": "GO:0004175 endopeptidase activity;GO:0019899 enzyme binding;GO:0001540 amyloid-beta binding;GO:0008233 peptidase activity;GO:0008798 beta-aspartyl-peptidase activity",
"go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0010288 response to lead ion;GO:0016485 protein processing;GO:0050435 amyloid-beta metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 15.8,
"record_id": "P56817-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O75363-1",
"uniprot_id": [
{
"id": "BCAS1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75363",
"type": "external"
}
],
"mass": 61709.0,
"length": 584,
"protein_name": "Breast carcinoma-amplified sequence 1",
"gene_name": "BCAS1",
"organism": "Human",
"refseq_name": "breast carcinoma-amplified sequence 1 isoform 1",
"refseq_ac": [
{
"id": "NP_003648",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003648",
"type": "external"
}
],
"gene_names_uniprotkb": "BCAS1; AIBC1; NABC1",
"gene_names_refseq": "AIBC1; BCAS1; NABC1; PMES-2",
"protein_names_uniprotkb": "Breast carcinoma-amplified sequence 1; Amplified and overexpressed in breast cancer; Novel amplified in breast cancer 1",
"protein_names_refseq": "amplified and overexpressed in breast cancer; breast carcinoma amplified sequence 1; breast carcinoma-amplified sequence 1 isoform 1; novel amplified in breast cancer 1; protein having mRNA enriched in synaptosomes 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8537)",
"pathway_count": 1,
"publication_count": 30,
"publication_id_list": "10857754;11237011;14567997;15583422;18510355;19562805;24715725;26154972;26811146;27846572;27920218;28218747;28904123;29393594;29508533;29557506;29632046;29789417;30315122;31154438;31530632;31844290;31848261;31998317;33298915;33912179;34357683;35051231;35132862;9671742",
"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for myelination., [UniProtKB, UniProtKB]; This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]., [RefSeq]",
"predicted_glycosites": 1,
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"secondary_ac_list": "A0AVG5;Q68CZ3",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0042552 myelination",
"synthesized_glycan_count": 0,
"hit_score": 3.3,
"record_id": "O75363-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NRL2-1",
"uniprot_id": [
{
"id": "BAZ1A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NRL2",
"type": "external"
}
],
"mass": 178702.0,
"length": 1556,
"protein_name": "Bromodomain adjacent to zinc finger domain protein 1A",
"gene_name": "BAZ1A",
"organism": "Human",
"refseq_name": "bromodomain adjacent to zinc finger domain protein 1A isoform a",
"refseq_ac": [
{
"id": "NP_038476",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_038476",
"type": "external"
}
],
"gene_names_uniprotkb": "BAZ1A; ACF1; HSPC317; WCRF180",
"gene_names_refseq": "ACF1; BAZ1A; WALp1; WCRF180; hACF1",
"protein_names_uniprotkb": "Bromodomain adjacent to zinc finger domain protein 1A; ATP-dependent chromatin-remodeling protein; ATP-utilizing chromatin assembly and remodeling factor 1; CHRAC subunit ACF1; WCRF180; Williams syndrome transcription factor-related chromatin-remodeling factor 180; hACF1; hWALp1",
"protein_names_refseq": "ATP-dependent chromatin remodeling protein; ATP-utilizing chromatin assembly and remodeling factor 1; CHRAC subunit ACF1; bromodomain adjacent to zinc finger domain protein 1A isoform a; bromodomain adjacent to zinc finger domain protein 1A; hWALp1; williams syndrome transcription factor-related chromatin-remodeling factor 180",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11177)",
"pathway_count": 1,
"publication_count": 99,
"publication_id_list": "10655480;10662543;10880450;11237011;12198550;12434153;14759371;17081983;17099699;17322306;17519354;18077418;18452278;18669648;18767875;19007248;19413330;19651622;19690332;19691289;20068231;21406692;23186163;23481700;24366607;24714562;25418920;25576301;25593309;25645385;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28801535;28832583;28834231;28904123;29021563;29242379;29393594;29493099;29557506;29632046;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31085244;31154438;31217245;31373491;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37082578;37938771;40914422",
"class_list": "",
"function": "African American Prostate Cancer Displays Quantitatively Distinct Vitamin D Receptor Cistrome-transcriptome Relationships Regulated by BAZ1A. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes recovery after DNA damage, in part by recruiting SMARCA5 to damaged chromatin Publication Status: Online-Only, [RefSeq, PubMed]; 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results revealed chromatin remodeling modulator BAZ1A acting as a novel regulator of cellular senescence in both normal and cancer cells, indicating a new target for potential cancer treatment, [RefSeq, PubMed]; The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]., [RefSeq]",
"predicted_glycosites": 1,
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"secondary_ac_list": "Q9NZ15;Q9P065;Q9UIG1;Q9Y3V3",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0000228 nuclear chromosome;GO:0005721 pericentric heterochromatin;GO:0008623 CHRAC;GO:0016590 ACF complex",
"go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0006275 regulation of DNA replication",
"synthesized_glycan_count": 0,
"hit_score": 10.4,
"record_id": "Q9NRL2-1",
"record_type": "protein",
"filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P11836-1",
"uniprot_id": [
{
"id": "CD20_HUMAN",
"url": "https://www.uniprot.org/uniprot/P11836",
"type": "external"
}
],
"mass": 33077.0,
"length": 297,
"protein_name": "B-lymphocyte antigen CD20",
"gene_name": "MS4A1",
"organism": "Human",
"refseq_name": "B-lymphocyte antigen CD20",
"refseq_ac": [
{
"id": "NP_068769",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769",
"type": "external"
}
],
"gene_names_uniprotkb": "MS4A1; CD20",
"gene_names_refseq": "B1; Bp35; CD20; CVID5; FMC7; LEU-16; MS4A1; S7",
"protein_names_uniprotkb": "B-lymphocyte antigen CD20; B-lymphocyte surface antigen B1; Bp35; Leukocyte surface antigen Leu-16; Membrane-spanning 4-domains subfamily A member 1",
"protein_names_refseq": "B-lymphocyte antigen CD20; B-lymphocyte cell-surface antigen B1; CD20 antigen; CD20 receptor; leukocyte surface antigen Leu-16; membrane-spanning 4-domains, subfamily A, member 1",
"tax_id": 9606,
"disease": "common variable immunodeficiency 5 (Disease Ontology:DOID:0081148); glomerulonephritis (Disease Ontology:DOID:2921)",
"pathway": " (hsa:931)",
"pathway_count": 1,
"publication_count": 89,
"publication_id_list": "11237011;12920111;16785532;17395584;18292551;18346788;18474602;19367720;20038800;20105447;20844564;21444918;22615937;23481700;24190977;2448768;2456210;24616531;2466899;24715725;2472394;25502872;25548167;25875651;25892735;26154972;26375851;26811146;27198675;27467957;27503676;27846572;27920218;28063628;28218747;28467828;28832583;28904123;29242379;29314611;29437277;29508533;29557506;29632046;29632711;29769354;29789417;30315122;30626607;30784271;31217245;31340979;31530632;31844290;31937595;31998317;32350084;32502341;3260267;32983136;33091337;33141586;33298915;33912179;33936100;34078123;34211107;34357683;34433824;34654826;34743199;34932366;34958272;35051231;35091527;35154160;35225660;35494241;35561310;37074911;37390984;37433400;38846084;3925015;7678037;7684739;7743181;8360479;9119530",
"class_list": "",
"function": "B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:12920111, PubMed:3925015, PubMed:7684739). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:12920111, PubMed:18474602, PubMed:7684739)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies. Publication Status: Online-Only, [RefSeq, PubMed]; CD20 expression, TrkB activation and functional activity of diffuse large B cell lymphoma-derived small extracellular vesicles., [RefSeq, PubMed]; CD20 positive CD8 T cells are a unique and transcriptionally-distinct subset of T cells with distinct transmigration properties. Publication Status: Online-Only, [RefSeq, PubMed]; MS4A1 as a Potential Independent Prognostic Factor of Breast Cancer Related to Lipid Metabolism and Immune Microenvironment Based on TCGA Database Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+ were key subpopulations in intrahepatic cholangiocarcinoma., [RefSeq, PubMed]; This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A6NMS4;B4DT24;P08984;Q13963",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0023026 MHC class II protein complex binding;GO:0005154 epidermal growth factor receptor binding;GO:0019865 immunoglobulin binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0044853 plasma membrane raft;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0051262 protein tetramerization;GO:0042113 B cell activation;GO:0050853 B cell receptor signaling pathway;GO:0030183 B cell differentiation",
"synthesized_glycan_count": 0,
"hit_score": 9.5,
"record_id": "P11836-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000110001001.111.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q15293-1",
"uniprot_id": [
{
"id": "RCN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15293",
"type": "external"
}
],
"mass": 38890.0,
"length": 331,
"protein_name": "Reticulocalbin-1",
"gene_name": "RCN1",
"organism": "Human",
"refseq_name": "reticulocalbin-1 precursor",
"refseq_ac": [
{
"id": "NP_002892",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002892",
"type": "external"
}
],
"gene_names_uniprotkb": "RCN1; RCN",
"gene_names_refseq": "HEL-S-84; PIG20; RCAL; RCN1; RCN",
"protein_names_uniprotkb": "Reticulocalbin-1",
"protein_names_refseq": "epididymis secretory protein Li 84; proliferation-inducing gene 20; reticulocalbin 1, EF-hand calcium binding domain; reticulocalbin-1 precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:5954); (R-HSA-381426); (R-HSA-8957275)",
"pathway_count": 3,
"publication_count": 170,
"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15104674;15126567;15308688;15469690;15485880;15525596;15642270;16959974;17047378;17074750;17249697;17312271;17985932;18446792;18702456;19159218;20068231;20166139;22121020;22424782;22544926;22661428;23090970;23584533;24190977;24275569;2476804;2479552;25418920;25502872;25645385;25813380;25892735;26091039;26154972;26811146;26992070;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28512129;28649982;28832583;28834231;28860189;28904123;29093164;29242379;29317506;29371260;29393594;29508533;29557506;29632046;29741879;29769354;29786170;30059200;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33537174;33592498;33936100;33968037;33981976;34019948;34171305;34185709;34357683;34405274;34509645;34725712;34846842;35051231;35138101;35251023;35254053;35289036;35318648;35580925;36010968;36215666;36241641;36284347;37074911;37340703;37746742;37938771;38057406;38665916;38713738;40596516;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8586628;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210",
"class_list": "",
"function": "Downregulation of RCN1 inhibits esophageal squamous cell carcinoma progression and M2 macrophage polarization. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of RCN1 promotes pyroptosis in acute myeloid leukemia cells., [RefSeq, PubMed]; May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment., [UniProtKB]; RCN1 deficiency inhibits oral squamous cell carcinoma progression and THP-1 macrophage M2 polarization. Publication Status: Online-Only, [RefSeq, PubMed]; Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]., [RefSeq]",
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{
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{
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{
"id": "NP_001014977",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014977",
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],
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"gene_names_refseq": "BAF-L; BAF2; BAFL; BANF2; C20orf179",
"protein_names_uniprotkb": "Barrier-to-autointegration factor-like protein; BAF-L; Barrier-to-autointegration factor 2",
"protein_names_refseq": "barrier to autointegration factor 2; barrier-to-autointegration factor-like protein isoform 1; barrier-to-autointegration factor-like protein; testis secretory sperm-binding protein Li 212a",
"tax_id": 9606,
"disease": "Nestor-Guillermo progeria syndrome (Disease Ontology:DOID:0081334)",
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"function": "BAF and BAF-L might contribute to the shaping of the spermatozoon nucleus and, after fertilisation, its transition to the male pronucleus., [RefSeq, PubMed]; BAF-L Modulates Histone-to-Protamine Transition during Spermiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in BANF1 regulation and influence tissue-specific roles of BANF1., [UniProtKB]",
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},
{
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{
"id": "AVIL_HUMAN",
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"protein_name": "Advillin",
"gene_name": "AVIL",
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"refseq_name": "advillin",
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{
"id": "NP_006567",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006567",
"type": "external"
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],
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"gene_names_refseq": "ADVIL; AVIL; DOC6; NPHS21; p92",
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"protein_names_refseq": "advillin",
"tax_id": 9606,
"disease": "nephrotic syndrome type 21 (Disease Ontology:DOID:0112267)",
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"publication_id_list": "11237011;12034507;15096633;18022635;20393563;25576301;29058690;31844290;32651364;33392160;34948433;35051231;37762498;9664034",
"class_list": "",
"function": "A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690)., [UniProtKB, PubMed, PubMed]; NMR structure of the C-terminal headpiece subdomains of advillin. Evaluation of F-actin-binding requirements., [RefSeq, PubMed]; Podocyte migration rate was increased by overexpression of WT Avil or PLCE1, or by EGF stimulation; however, this increased PMR was ameliorated by inhibition of the ARP2/3 complex, indicating that ARP-dependent lamellipodia formation occurs downstream of AVIL and PLCE1 function., [RefSeq, PubMed]; Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants., [RefSeq, PubMed]; Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_cellular_component": "GO:0005884 actin filament;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0030424 axon",
"go_biological_process": "GO:0007015 actin filament organization;GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development;GO:0051016 barbed-end actin filament capping;GO:0008154 actin polymerization or depolymerization",
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},
{
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{
"id": "TADA3_HUMAN",
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"protein_name": "Transcriptional adapter 3",
"gene_name": "TADA3",
"organism": "Human",
"refseq_name": "transcriptional adapter 3 isoform a",
"refseq_ac": [
{
"id": "NP_001265199",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265199",
"type": "external"
}
],
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"gene_names_refseq": "ADA3; NGG1; STAF54; TADA3L; TADA3; hADA3",
"protein_names_uniprotkb": "Transcriptional adapter 3; ADA3 homolog; ADA3-like protein; STAF54; Transcriptional adapter 3-like; hADA3",
"protein_names_refseq": "ADA3 homolog; ADA3-like protein; alteration/deficiency in activation 3; epididymis secretory sperm binding protein; transcriptional adapter 3 isoform a; transcriptional adapter 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10474); (R-HSA-3214847); (R-HSA-5689880); (R-HSA-9772755)",
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"function": "DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]., [RefSeq]; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Transcriptional adaptor 3 influences the proliferative and invasive phenotypes of non-small cell lung cancer cells via regulating EMT., [RefSeq, PubMed]",
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"secondary_ac_list": "Q6FI83;Q9UFS2",
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"go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0016922 nuclear receptor binding",
"go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex;GO:0072686 mitotic spindle",
"go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression",
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},
{
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],
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{
"id": "NP_001342405",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342405",
"type": "external"
}
],
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"gene_names_refseq": "GOLGA8Q",
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},
{
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{
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],
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"protein_name": "Elongator complex protein 5",
"gene_name": "ELP5",
"organism": "Human",
"refseq_name": "elongator complex protein 5 isoform 2",
"refseq_ac": [
{
"id": "NP_981958",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_981958",
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],
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"protein_names_uniprotkb": "Elongator complex protein 5; Dermal papilla-derived protein 6; S-phase 2 protein",
"protein_names_refseq": "S-phase 2 protein; dermal papilla derived protein 6; elongator complex protein 5 isoform 2; elongator complex protein 5",
"tax_id": 9606,
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"function": "Cloning and characterization of the DERP6 gene, isolated from testis cDNA library; results indicate that the DERP6 may be involved in p53-mediated gene transcription, [RefSeq, PubMed]; Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in cell migration (By similarity)., [UniProtKB, PubMed, UniProtKB]; Data identify DERP6/ELP5 and C3ORF75/ELP6 as key players for migration, invasion and tumorigenicity of melanoma cells, as integral subunits of Elongator., [RefSeq, PubMed]; Loss of ELP5 impairs the integrity and stability of the Elongator complex to abrogate wobble U34 tRNA modification, and directly impedes the wobble U34 modification-dependent translation of hnRNPQ mRNA. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0033588 elongator holoenzyme complex",
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"url": "https://www.uniprot.org/uniprot/P28749",
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"protein_name": "Retinoblastoma-like protein 1",
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"organism": "Human",
"refseq_name": "retinoblastoma-like protein 1 isoform a",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002886",
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],
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"gene_names_refseq": "CP107; PRB1; RBL1; p107",
"protein_names_uniprotkb": "Retinoblastoma-like protein 1; 107 kDa retinoblastoma-associated protein; p107; pRb1",
"protein_names_refseq": "107 kDa retinoblastoma-associated protein; retinoblastoma-like 1; retinoblastoma-like protein 1 isoform a; retinoblastoma-like protein 1",
"tax_id": 9606,
"disease": "prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); cancer (Disease Ontology:DOID:162)",
"pathway": " (hsa:5933); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-2173796); (R-HSA-6804114); (R-HSA-69205); (R-HSA-69231)",
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"function": "Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904)., [UniProtKB, PubMed, UniProtKB, PubMed]; PP2A/B55alpha substrate recruitment as defined by the retinoblastoma-related protein p107. Publication Status: Online-Only, [RefSeq, PubMed]; Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:1990841 promoter-specific chromatin binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin",
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{
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{
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"protein_name": "T-box transcription factor TBX15",
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"organism": "Human",
"refseq_name": "T-box transcription factor TBX15 isoform 1",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317606",
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],
"gene_names_uniprotkb": "TBX15; TBX14",
"gene_names_refseq": "TBX14; TBX15",
"protein_names_uniprotkb": "T-box transcription factor TBX15; T-box protein 14; T-box protein 15; T-box transcription factor TBX14",
"protein_names_refseq": "T-box 14; T-box 15; T-box protein 14; T-box protein 15; T-box transcription factor TBX14; T-box transcription factor TBX15 isoform 1; T-box transcription factor TBX15",
"tax_id": 9606,
"disease": "pelviscapular dysplasia (MONDO:MONDO:0009845)",
"pathway": " (hsa:6913)",
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"function": "Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes., [RefSeq, PubMed]; Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes. Erratum:[Genome Med. 2021 Aug 30;13(1):139. doi: 10.1186/s13073-021-00954-3. PMID: 34461981] Publication Status: Online-Only, [RefSeq, PubMed]; MiR-4732-3p prevents lung cancer progression via inhibition of the TBX15/TNFSF11 axis., [RefSeq, PubMed]; Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2011 Nov;43(11):1164], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity)., [UniProtKB]; TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome., [RefSeq, PubMed]; The overexpression and clinical significance of TBX15 in human gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]., [RefSeq]",
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{
"uniprot_canonical_ac": "P46100-1",
"uniprot_id": [
{
"id": "ATRX_HUMAN",
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],
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"protein_name": "Chromatin remodeler ATRX",
"gene_name": "ATRX",
"organism": "Human",
"refseq_name": "transcriptional regulator ATRX isoform 1",
"refseq_ac": [
{
"id": "NP_000480",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000480",
"type": "external"
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],
"gene_names_uniprotkb": "ATRX; RAD54L; XH2",
"gene_names_refseq": "ATRX; JMS; MRX52; RAD54L; RAD54; XH2; XNP; ZNF-HX",
"protein_names_uniprotkb": "Chromatin remodeler ATRX; 3.6.4.-; Transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XNP; Znf-HX",
"protein_names_refseq": "ATP-dependent helicase ATRX; X-linked helicase II; X-linked nuclear protein; transcriptional regulator ATRX isoform 1; transcriptional regulator ATRX",
"tax_id": 9606,
"disease": "X-linked intellectual disability-hypotonic facies syndrome-1 (Disease Ontology:DOID:0080982); alpha thalassemia-X-linked intellectual disability syndrome (Disease Ontology:DOID:0110030); alpha-thalassemia myelodysplasia syndrome (Disease Ontology:DOID:0112125); intellectual disability (Disease Ontology:DOID:1059); sarcoma (Disease Ontology:DOID:1115); islet cell tumor (Disease Ontology:DOID:1799); melanoma (Disease Ontology:DOID:1909); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409)",
"pathway": " (hsa:546); (R-HSA-9670095); (R-HSA-9670613); (R-HSA-9670615)",
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"function": "Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice. Publication Status: Online-Only, [RefSeq, PubMed]; 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 CTCF within the H19 imprinting control region (ICR) and involved in establishment 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss of ATRX and DAXX in pancreatic neuroendocrine tumors: Association with recurrence risk, cellular phenotype, and heterogeneity., [RefSeq, PubMed]; Mutations in ATRX have been shown to perturb gene expression and DNA methylation; this is a report of 127 mutations including 32 reported here for the first time., [RefSeq, PubMed]; The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]., [RefSeq]; The translocation activity of Rad54 reduces crossover outcomes during homologous recombination., [RefSeq, PubMed]",
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"id": "3.1.-.-",
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],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0016605 PML body;GO:0000228 nuclear chromosome",
"go_biological_process": "GO:0031509 subtelomeric heterochromatin formation;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II",
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},
{
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{
"id": "RBMX2_HUMAN",
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"type": "external"
}
],
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{
"id": "NP_057108",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057108",
"type": "external"
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],
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"tax_id": 9606,
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"pathway": " (hsa:51634); (R-HSA-72163)",
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"publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15302935;16314458;16809785;17081983;17095540;17287340;17332742;17606899;18322460;18452278;18593880;18669648;18707149;18767875;19007248;19103666;19165350;19413330;19536130;19651622;19664994;19664995;19691289;20068231;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24714562;24737827;24914973;25555158;25576301;2558966;26385511;26420826;26728094;26969736;27377154;27459055;27600516;27683217;28062851;28076346;28502770;28781166;28832583;28834231;29242379;29301961;29360106;29361316;29393594;29557506;2963332;30315277;30379171;30705154;30728453;30765414;30833945;30975767;31409651;31530632;31844290;32157095;32161166;32179686;32329775;32357974;32494006;32897882;32938616;32983136;33243851;33446560;33509932;33592498;33691108;33968037;34171305;34301950;34822310;34914762;35051231;35385551;35580925;36010968;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529",
"class_list": "",
"function": "Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "A8K9Z0;Q5JY82;Q9Y3I8",
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"go_molecular_function": "GO:0003723 RNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0031965 nuclear membrane;GO:0005686 U2 snRNP",
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},
{
"uniprot_canonical_ac": "O14492-1",
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{
"id": "SH2B2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14492",
"type": "external"
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],
"mass": 67738.0,
"length": 632,
"protein_name": "SH2B adapter protein 2",
"gene_name": "SH2B2",
"organism": "Human",
"refseq_name": "SH2B adapter protein 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001346157",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001346157",
"type": "external"
}
],
"gene_names_uniprotkb": "SH2B2; APS",
"gene_names_refseq": "APS; SH2B2",
"protein_names_uniprotkb": "SH2B adapter protein 2; Adapter protein with pleckstrin homology and Src homology 2 domains; SH2 and PH domain-containing adapter protein APS",
"protein_names_refseq": "SH2 and PH domain-containing adapter protein APS; SH2B adapter protein 2 isoform 2; adapter protein with pleckstrin homology and Src homology 2 domains",
"tax_id": 9606,
"disease": "chromosome 16p11.2 deletion syndrome, 220-kb (Disease Ontology:DOID:0060398)",
"pathway": " (hsa:10603); (R-HSA-1433559); (R-HSA-983231)",
"pathway_count": 3,
"publication_count": 75,
"publication_id_list": "10374881;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;11994499;12032298;12134158;12400014;12427746;12444928;15020713;15247287;15378031;15710388;15737992;16054028;16129412;16141217;1630448;16780420;17027967;17196961;17904548;18588518;19293402;20237496;20530532;20627800;218813;23190452;23481700;24715725;25576301;25880248;26845023;26992070;27846572;28514659;28832583;28904123;29242379;29393594;30315122;31154438;31217245;31844290;32157095;32357974;33141586;33298915;33691108;33981976;3409321;34357683;34561969;35051231;7520444;7539802;7684496;8662638;8816476;9065479;9230307;9233773;9326583;9331217;9422515;9528781;9927674;9989826",
"class_list": "",
"function": "Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Studies indicate that insulin receptor (IR) and IGF Type 1 Receptor (IGFR) have been identified as important partners of Grb10/14 and SH2B1/B2 adaptors. Review article, [RefSeq, PubMed]; The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]., [RefSeq]",
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"secondary_ac_list": "A0A0A0MTI2;A6ND74",
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"go_molecular_function": "GO:0042169 SH2 domain binding;GO:0035591 signaling adaptor activity;GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0001725 stress fiber",
"go_biological_process": "GO:0035556 intracellular signal transduction;GO:0050853 B cell receptor signaling pathway;GO:0008286 insulin receptor signaling pathway",
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},
{
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"uniprot_id": [
{
"id": "BT3A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00481",
"type": "external"
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],
"mass": 57677.0,
"length": 513,
"protein_name": "Butyrophilin subfamily 3 member A1",
"gene_name": "BTN3A1",
"organism": "Human",
"refseq_name": "butyrophilin subfamily 3 member A1 isoform c precursor",
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{
"id": "NP_001138480",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138480",
"type": "external"
}
],
"gene_names_uniprotkb": "BTN3A1; BTF5",
"gene_names_refseq": "BT3.1; BTF5; BTN3.1; BTN3A1; CD277",
"protein_names_uniprotkb": "Butyrophilin subfamily 3 member A1",
"protein_names_refseq": "butyrophilin subfamily 3 member A1 isoform c precursor; dJ45P21.3 (butyrophilin, subfamily 3, member A1)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11119); (R-HSA-8851680)",
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"publication_count": 46,
"publication_id_list": "37268159;11237011;12502743;16751379;17785817;19531472;20208008;20610803;20944003;21113407;21918970;22767497;22846996;23481700;24036152;24190977;24703779;24714562;25637025;25657647;26154972;28514659;29351928;29437277;29786170;30315122;30410026;31217245;31844290;32157095;32350084;32938616;32983136;33298915;33912179;33968037;34171305;35051231;36215666;37171180;37674084;37688767;38450995;39342337;9149941;9382921",
"class_list": "",
"function": "Association of BTN3A1 gene polymorphisms with systemic lupus erythematosus in a Chinese Han population., [RefSeq, PubMed]; BTN3A1 expressed in cervical cancer cells promotes Vgamma9Vdelta2 T cells exhaustion through upregulating transcription factors NR4A2/3 downstream of TCR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1., [RefSeq, PubMed]; Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vgamma9Vdelta2 T cells., [RefSeq, PubMed]; Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene polymorphisms on the risk of systemic lupus erythematosus: a multifactorial dimensional reduction analysis., [RefSeq, PubMed]; The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding",
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"go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0001819 positive regulation of cytokine production;GO:0002250 adaptive immune response;GO:0050798 activated T cell proliferation;GO:0001817 regulation of cytokine production",
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},
{
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{
"id": "CCL25_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15444",
"type": "external"
}
],
"mass": 16609.0,
"length": 150,
"protein_name": "C-C motif chemokine 25",
"gene_name": "CCL25",
"organism": "Human",
"refseq_name": "C-C motif chemokine 25 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001188288",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188288",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL25; SCYA25; TECK",
"gene_names_refseq": "CCL25; Ck beta-15; Ckb15; SCYA25; TECK",
"protein_names_uniprotkb": "C-C motif chemokine 25; Chemokine TECK; Small-inducible cytokine A25; Thymus-expressed chemokine",
"protein_names_refseq": "C-C motif chemokine 25 isoform 2 precursor; C-C motif chemokine 25; TECKvar; chemokine (C-C motif) ligand 25; chemokine TECK; small inducible cytokine subfamily A (Cys-Cys), member 25; small-inducible cytokine A25; thymus expressed chemokine",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6370); (R-HSA-380108); (R-HSA-418594)",
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"publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;12949249;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;23341447;2423119;2534964;2748346;2834384;29632711;2970963;3098319;32064335;32323823;3260265;33058852;33347617;34808497;35561310;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9285413;9390561;9463416;9618518",
"class_list": "",
"function": "CCL25 and CCR9 is a unique pathway that potentiates pannus formation by remodeling RA macrophages into mature osteoclasts., [RefSeq, PubMed]; CCL25 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Intratumoral delivery of CCL25 enhances immunotherapy against triple-negative breast cancer by recruiting CCR9(+) T cells. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00853 restrains T cell acute lymphoblastic leukemia invasion and infiltration by regulating CCR9/CCL25., [RefSeq, PubMed]; Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. Isoform 2 is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4., [UniProtKB]; The role of the CCL25-CCR9 axis in beta-cell function: potential for therapeutic intervention in type 2 diabetes., [RefSeq, PubMed]; This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]., [RefSeq]; Thymusexpressed chemokine secreted by breast cancer cells promotes metastasis and inhibits apoptosis., [RefSeq, PubMed]",
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"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway",
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{
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}
],
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"protein_name": "Zinc finger protein 774",
"gene_name": "ZNF774",
"organism": "Human",
"refseq_name": "zinc finger protein 774",
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{
"id": "NP_001004309",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004309",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 774",
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"function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF774 is a potent suppressor of hepatocarcinogenesis through dampening the NOTCH2 signaling. Erratum:[Oncogene. 2020 Mar;39(13):2844. doi: 10.1038/s41388-020-1180-0. PMID: 32015484], [RefSeq, PubMed]",
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{
"id": "NP_001014979",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014979",
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{
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"function": "BCAS3 (17q23) and BCAS4 (20q13) undergo amplification, overexpression, and fusion in breast cancer., [RefSeq, PubMed]",
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"protein_name": "Syntaxin-1A",
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],
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"disease": "Hirschsprung's disease (Disease Ontology:DOID:10487); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); disease of mental health (Disease Ontology:DOID:150); type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:6804); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-264876); (R-HSA-422356); (R-HSA-449836); (R-HSA-5250971); (R-HSA-5682910); (R-HSA-6794361); (R-HSA-888590); (R-HSA-9609523); (R-HSA-9662360)",
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"function": "Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients., [RefSeq, PubMed]; Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy., [RefSeq, PubMed]; Oligomeric alpha-Syn and SNARE complex proteins in peripheral extracellular vesicles of neural origin are biomarkers for Parkinson's disease., [RefSeq, PubMed]; Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Also plays an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features. Publication Status: Online-Only, [RefSeq, PubMed]; Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]",
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"go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0044325 transmembrane transporter binding;GO:0019900 kinase binding",
"go_cellular_component": "GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005576 extracellular region;GO:0005829 cytosol",
"go_biological_process": "GO:0035494 SNARE complex disassembly;GO:0010701 positive regulation of norepinephrine secretion;GO:0006886 intracellular protein transport;GO:0016925 protein sumoylation;GO:0032940 secretion by cell",
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},
{
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 18",
"gene_name": "ADAMTS18",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein",
"refseq_ac": [
{
"id": "NP_955387",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_955387",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS18; ADAMTS21",
"gene_names_refseq": "ADAMTS18; ADAMTS21; KNO2; MMCAT",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 18; 3.4.24.-; ADAM-TS 18; ADAM-TS18; ADAMTS-18",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 18; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21; disintegrin and metalloprotease-like protein",
"tax_id": 9606,
"disease": "microcornea-myopic chorioretinal atrophy (MONDO:MONDO:0014195)",
"pathway": " (hsa:170692); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)",
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"publication_id_list": "10229672;10386589;10706100;10809722;10986281;11067851;11237011;11375993;11867212;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16464858;1649600;16507336;16631740;16825321;16959974;1698775;1707285;17332331;17354228;17546048;17608959;18398821;18434311;18658137;18720094;19010778;19571574;19657146;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21862674;21864727;22159414;22588082;23035980;23667181;23818446;23845380;23889335;25544610;28228285;29351928;32218432;33469885;33968037;34320216;35051231;35580925;36632911;38199772;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107",
"class_list": "",
"function": "Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma., [RefSeq, PubMed]; Adamts18 links luminal hormone receptor signaling to basement membrane remodeling and stem cell activation. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis., [RefSeq, PubMed]; Comparison of the effects of C-terminal truncation on the GAG-binding properties and aggrecanase activity of ADAMTS-5 relative to three other ADAMTS family members, ADAMTS-9, ADAMTS-16 and ADAMTS-18, [RefSeq, PubMed]; Functional epigenetics show ADAMTS18 to be a novel functional tumor suppressor, being frequently inactivated epigenetically in multiple carcinomas., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Secreted protease ADAMTS18 in development and disease. Review article, [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]., [RefSeq]; [A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations]., [RefSeq, PubMed]",
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{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
"type": "external"
},
{
"id": "3.4.24.82",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82",
"type": "external"
},
{
"id": "3.4.24.14",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14",
"type": "external"
},
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "3.4.24.87",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87",
"type": "external"
},
{
"id": "2.4.1.221",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
"type": "external"
}
],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0031012 extracellular matrix",
"go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0001654 eye development;GO:0090331 negative regulation of platelet aggregation",
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"hit_score": 7.6,
"record_id": "Q8TE60-1",
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},
{
"uniprot_canonical_ac": "O15155-1",
"uniprot_id": [
{
"id": "BET1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15155",
"type": "external"
}
],
"mass": 13289.0,
"length": 118,
"protein_name": "BET1 homolog",
"gene_name": "BET1",
"organism": "Human",
"refseq_name": "BET1 homolog isoform 2",
"refseq_ac": [
{
"id": "NP_001304668",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304668",
"type": "external"
}
],
"gene_names_uniprotkb": "BET1",
"gene_names_refseq": "BET1; HBET1; MDRP",
"protein_names_uniprotkb": "BET1 homolog; Golgi vesicular membrane-trafficking protein p18; hBET1",
"protein_names_refseq": "BET1 homolog isoform 2; BET1 homolog; Bet1p homolog; Golgi vesicular membrane trafficking protein p18; blocked early in transport 1 homolog; golgi vesicular membrane-trafficking protein p18",
"tax_id": 9606,
"disease": "congenital muscular dystrophy with rapid progression (Disease Ontology:DOID:0061202)",
"pathway": " (hsa:10282); (R-HSA-204005); (R-HSA-6807878)",
"pathway_count": 3,
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"class_list": "",
"function": "BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy., [RefSeq, PubMed]; Large-scale genetic screens identify BET-1 as a cytoskeleton regulator promoting actin function and life span., [RefSeq, PubMed]; Required for vesicular transport from the ER to the Golgi complex (PubMed:34779586). Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity)., [UniProtKB, UniProtKB, PubMed]; Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane., [UniProtKB, UniProtKB]; The distinct localizations of rsec22 and rbet1 may reflect their participation in opposite directions of membrane flow between the endoplasmic reticulum and Golgi apparatus., [RefSeq, PubMed]; This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]",
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"secondary_ac_list": "Q96EA0",
"ec_number_list": [],
"go_molecular_function": "GO:0005484 SNAP receptor activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle",
"go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048280 vesicle fusion with Golgi apparatus",
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"hit_score": 17.7,
"record_id": "O15155-1",
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},
{
"uniprot_canonical_ac": "P09564-1",
"uniprot_id": [
{
"id": "CD7_HUMAN",
"url": "https://www.uniprot.org/uniprot/P09564",
"type": "external"
}
],
"mass": 25409.0,
"length": 240,
"protein_name": "T-cell antigen CD7",
"gene_name": "CD7",
"organism": "Human",
"refseq_name": "T-cell antigen CD7 precursor",
"refseq_ac": [
{
"id": "NP_006128",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006128",
"type": "external"
}
],
"gene_names_uniprotkb": "CD7",
"gene_names_refseq": "CD7; GP40; LEU-9; TP41; Tp40",
"protein_names_uniprotkb": "T-cell antigen CD7; GP40; T-cell leukemia antigen; T-cell surface antigen Leu-9; TP41",
"protein_names_refseq": "CD7 antigen (p41); T-cell antigen CD7 precursor; T-cell antigen CD7; T-cell leukemia antigen; T-cell surface antigen Leu-9; p41 protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:924)",
"pathway_count": 1,
"publication_count": 25,
"publication_id_list": "10652336;11237011;1703303;1709867;1711009;19159218;19349973;19901323;2479685;25810538;26154972;27397612;29493099;29557506;33298915;34034609;34176091;3501369;35051231;35332132;37074911;37314354;38123919;7506726;8918688",
"class_list": "",
"function": "Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia., [RefSeq, PubMed]; CD7 activation regulates cytotoxicity-driven pathology in systemic sclerosis, yielding a target for selective cell depletion. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value of lymphoid marker CD7 expression in acute myeloid leukemia patients undergoing allogeneic hematopoietic cell transplantation in first morphological complete remission., [RefSeq, PubMed]; Quantitative analyses of CD7, CD33, CD34, CD56, and CD123 within the FLT3-ITD/NPM1-MUT myeloblastic/monocytic bulk AML blastic populations., [RefSeq, PubMed]; T cells expressing CD5/CD7 bispecific chimeric antigen receptors with fully human heavy-chain-only domains mitigate tumor antigen escape. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008]., [RefSeq]; Transmembrane glycoprotein expressed by T-cells and natural killer (NK) cells and their precursors (PubMed:7506726). Plays a costimulatory role in T-cell activation upon binding to its ligand K12/SECTM1 (PubMed:10652336). In turn, mediates the production of cytokines such as IL-2 (PubMed:1709867). On resting NK-cells, CD7 activation results in a significant induction of interferon-gamma levels (PubMed:7506726)., [UniProtKB, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0038023 signaling receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006955 immune response;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0042110 T cell activation;GO:0002250 adaptive immune response;GO:0002726 positive regulation of T cell cytokine production",
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"record_id": "P09564-1",
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},
{
"uniprot_canonical_ac": "Q12962-1",
"uniprot_id": [
{
"id": "TAF10_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q12962",
"type": "external"
}
],
"mass": 21711.0,
"length": 218,
"protein_name": "Transcription initiation factor TFIID subunit 10",
"gene_name": "TAF10",
"organism": "Human",
"refseq_name": "transcription initiation factor TFIID subunit 10",
"refseq_ac": [
{
"id": "NP_006275",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006275",
"type": "external"
}
],
"gene_names_uniprotkb": "TAF10; TAF2A; TAF2H; TAFII30",
"gene_names_refseq": "TAF10; TAF2A; TAF2H; TAFII30",
"protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 10; STAF28; TAF(II)30; TAFII-30; TAFII30; Transcription initiation factor TFIID 30 kDa subunit",
"protein_names_refseq": "STAF28; TAF(II)30; TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa; TAFII-30; TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD; transcription initiation factor TFIID 30 kD subunit; transcription initiation factor TFIID 30 kDa subunit; transcription initiation factor TFIID subunit 10",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6881); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-3214847); (R-HSA-5689880); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)",
"pathway_count": 12,
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"class_list": "",
"function": "Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]., [RefSeq]; Lysine oxidation of the transcription factor TAF10 by LOXL2 is a controlled protein modification and demonstrates a role for protein oxidation in regulating pluripotency genes., [RefSeq, PubMed]; Small molecule Z363 co-regulates TAF10 and MYC via the E3 ligase TRIP12 to suppress tumour growth., [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). TAF10 is also component of the PCAF histone acetylase complex, the TATA-binding protein-free TAF complex (TFTC) and the STAGA transcription coactivator-HAT complex (PubMed:10373431, PubMed:11564863, PubMed:12601814, PubMed:18206972, PubMed:9885574). May regulate cyclin E expression (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]",
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"glyco_site_count": 2,
"binding_glycan_count": 0,
"secondary_ac_list": "O00703;Q13175;Q6FH13",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0030331 nuclear estrogen receptor binding;GO:0070063 RNA polymerase binding",
"go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm",
"go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription",
"synthesized_glycan_count": 0,
"hit_score": 18.3,
"record_id": "Q12962-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H2M3-1",
"uniprot_id": [
{
"id": "BHMT2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H2M3",
"type": "external"
}
],
"mass": 40354.0,
"length": 363,
"protein_name": "S-methylmethionine--homocysteine S-methyltransferase BHMT2",
"gene_name": "BHMT2",
"organism": "Human",
"refseq_name": "S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 2",
"refseq_ac": [
{
"id": "NP_001171476",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171476",
"type": "external"
}
],
"gene_names_uniprotkb": "BHMT2",
"gene_names_refseq": "BHMT2",
"protein_names_uniprotkb": "S-methylmethionine--homocysteine S-methyltransferase BHMT2; 2.1.1.10; Betaine--homocysteine S-methyltransferase 2; SMM-hcy methyltransferase",
"protein_names_refseq": "S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 2; S-methylmethionine--homocysteine S-methyltransferase BHMT2; SMM-hcy methyltransferase; betaine-homocysteine methyltransferase 2",
"tax_id": 9606,
"disease": "congenital heart disease (Disease Ontology:DOID:1682); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:23743); (R-HSA-1614635)",
"pathway_count": 2,
"publication_count": 22,
"publication_id_list": "11087663;11237011;12818402;18230605;18427977;18457970;24275569;25846410;26213999;26612412;26992070;28904123;29356306;29557506;29786170;30429286;31848261;33592498;34357683;35051231;35580925;35835902",
"class_list": "",
"function": "A three-way interaction among maternal and fetal variants in BHMT2, GSTP1 and GPX3 contribute to congenital heart defects, [RefSeq, PubMed]; Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring., [RefSeq, PubMed]; Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase., [RefSeq, PubMed]; Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]; Hyperhomocysteinemia, a risk factor for coronary diseases, can be caused by genetic mutations in BHMT2 metabolism., [RefSeq, PubMed]; Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor., [UniProtKB, PubMed]; Multiple SNPs in BHMT and BHMT2 were identified to be associated with the occurrence of infant obstructive heart defects and interaction effects with maternal use of folic acid supplements., [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction., [RefSeq, PubMed]; The faster evolutionary rate of BHMT2 overall suggests that selective constraints were reduced relative to BHMT. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_snv": 7,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "B7Z516;Q9NXX7",
"ec_number_list": [
{
"id": "2.1.1.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.10",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0061627 S-methylmethionine-homocysteine S-methyltransferase activity;GO:0008172 S-methyltransferase activity",
"go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0032259 methylation;GO:0033477 S-methylmethionine metabolic process;GO:0046500 S-adenosylmethionine metabolic process;GO:0071267 L-methionine salvage",
"synthesized_glycan_count": 0,
"hit_score": 2.3,
"record_id": "Q9H2M3-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P16410-1",
"uniprot_id": [
{
"id": "CTLA4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P16410",
"type": "external"
}
],
"mass": 24656.0,
"length": 223,
"protein_name": "Cytotoxic T-lymphocyte protein 4",
"gene_name": "CTLA4",
"organism": "Human",
"refseq_name": "cytotoxic T-lymphocyte protein 4 isoform CTLA-4delTM precursor",
"refseq_ac": [
{
"id": "NP_001032720",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032720",
"type": "external"
}
],
"gene_names_uniprotkb": "CTLA4; CD152",
"gene_names_refseq": "ALPS5; CD152; CD; CELIAC3; CTLA-4; CTLA4; GRD4; GSE; IDDM12",
"protein_names_uniprotkb": "Cytotoxic T-lymphocyte protein 4; CTLA-4; Cytotoxic T-lymphocyte-associated antigen 4",
"protein_names_refseq": "celiac disease 3; cytotoxic T lymphocyte associated antigen 4 short spliced form; cytotoxic T-lymphocyte protein 4 isoform CTLA-4delTM precursor; cytotoxic T-lymphocyte-associated serine esterase-4; gluten-sensitive enteropathy; insulin-dependent diabetes mellitus 12; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4",
"tax_id": 9606,
"disease": "immunoglobulin alpha deficiency (Disease Ontology:DOID:0060025); developmental disorder of mental health (Disease Ontology:DOID:0060037); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); benign neoplasm (Disease Ontology:DOID:0060072); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); alcohol-associated liver disease (Disease Ontology:DOID:0070658); lupus nephritis (Disease Ontology:DOID:0080162); latent autoimmune diabetes in adults (Disease Ontology:DOID:0080846); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); silicosis (Disease Ontology:DOID:10325); celiac disease (Disease Ontology:DOID:10608); anogenital venereal wart (Disease Ontology:DOID:11168); sarcoidosis (Disease Ontology:DOID:11335); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); primary biliary cholangitis (Disease Ontology:DOID:12236); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); malaria (Disease Ontology:DOID:12365); hepatitis A (Disease Ontology:DOID:12549); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); urinary schistosomiasis (Disease Ontology:DOID:1394); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); multiple sclerosis (Disease Ontology:DOID:2377); basal cell carcinoma (Disease Ontology:DOID:2513); asthma (Disease Ontology:DOID:2841); invasive ductal carcinoma (Disease Ontology:DOID:3008); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); atopic dermatitis (Disease Ontology:DOID:3310); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); autoimmune hemolytic anemia (Disease Ontology:DOID:718); autoimmune thyroiditis (Disease Ontology:DOID:7188); monoclonal gammopathy of uncertain significance (Disease Ontology:DOID:7442); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); psoriasis (Disease Ontology:DOID:8893); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); iridocyclitis (Disease Ontology:DOID:9383); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (MONDO:MONDO:0014493)",
"pathway": " (hsa:1493); (R-HSA-389356); (R-HSA-389513); (R-HSA-8877330)",
"pathway_count": 4,
"publication_count": 62,
"publication_id_list": "10189842;10475192;10493833;10533284;10694513;10799894;10842319;10903931;10924276;11237011;11279501;11279502;11735222;11976720;11994459;12220513;12724780;12876557;15138458;15142525;15452244;15657618;15688186;16002699;16551244;16818765;16873067;1713603;1714933;17377532;18468488;18595775;18641304;19405949;19426230;19800266;21156796;25213377;25329329;28484017;28832583;29242379;29632711;3220103;32983136;35051231;39340674;39397428;39456030;7807015;8609386;8638161;8649453;8946678;9175836;9228944;9259273;9398332;9712716;9813138;9973379;9973466",
"class_list": "",
"function": "Association of four CTLA-4 gene polymorphisms with pemphigus risk: a systematic review, meta-analysis, and meta-regression., [RefSeq, PubMed]; Decoding the genetic influence of CT60 non-coding polymorphism in CTLA-4 gene and sCTLA-4 biomarker with rheumatoid arthritis in the Indian population. Publication Status: Online-Only, [RefSeq, PubMed]; High PD-1 and CTLA-4 expression correlates with host immune suppression in patients and a mouse model infected with Echinococcus multilocularis. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy receptor: the affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28 (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:28484017)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibitory receptor acting as a major negative regulator of T-cell responses. Acts as a decoy receptor: the affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28., [UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_phosphosites": 8,
"reported_mutagensis": 13,
"reported_glycation": 0,
"reported_snv": 15,
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"missing_score": 10000,
"biomarker_type": "",
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"disease_count": 58,
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"secondary_ac_list": "A0N1S0;E9PDH0;O95653;Q0PP65;Q52MC1;Q53TD5;Q5S005;Q8WXJ1;Q96P43;Q9UKN9",
"ec_number_list": [],
"go_molecular_function": "GO:0140319 receptor decoy activity",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0009897 external side of plasma membrane;GO:0045334 clathrin-coated endocytic vesicle",
"go_biological_process": "GO:0006955 immune response;GO:0043065 positive regulation of apoptotic process;GO:0042130 negative regulation of T cell proliferation;GO:0050852 T cell receptor signaling pathway;GO:0006974 DNA damage response",
"synthesized_glycan_count": 0,
"hit_score": 6.5,
"record_id": "P16410-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q92917-1",
"uniprot_id": [
{
"id": "GPKOW_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q92917",
"type": "external"
}
],
"mass": 52229.0,
"length": 476,
"protein_name": "G-patch domain and KOW motifs-containing protein",
"gene_name": "GPKOW",
"organism": "Human",
"refseq_name": "G-patch domain and KOW motifs-containing protein",
"refseq_ac": [
{
"id": "NP_056513",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056513",
"type": "external"
}
],
"gene_names_uniprotkb": "GPKOW; GPATC5; GPATCH5; T54",
"gene_names_refseq": "GPATC5; GPATCH5; GPKOW; Mos2; Spp2; T54",
"protein_names_uniprotkb": "G-patch domain and KOW motifs-containing protein; G-patch domain-containing protein 5; Protein MOS2 homolog; Protein T54",
"protein_names_refseq": "G patch domain and KOW motifs-containing protein; G-patch domain and KOW motifs-containing protein; protein MOS2 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27238); (R-HSA-72163); (R-HSA-9918481)",
"pathway_count": 3,
"publication_count": 190,
"publication_id_list": "10882114;11014198;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16271871;16314458;16491121;16809785;17081983;17095540;17332742;17606899;18220336;18322460;18452278;18491316;18593880;18669648;19103666;19165350;19413330;19536130;19651622;19690332;20068231;20423332;20980672;21536652;2176635;21880142;21911577;22110043;22365833;22424782;22645359;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25296192;25418920;25555158;25576301;2558966;25880248;25892735;26092250;26385511;26420826;26728094;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28657654;28781166;28832583;28834231;28904123;29237092;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30059200;30315277;30410026;30429286;30524438;30599162;30620550;30705154;30728453;30765414;30975767;31217245;31373491;31409651;31492838;31844290;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33177556;33243851;33298915;33392160;33446560;33509932;33592498;33633747;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34405274;34509645;34822310;34932366;35051231;35132862;35215846;35251023;35254053;35385551;35561310;35580925;35705054;36010968;36215666;37340703;37541260;3757028;37938771;39531497;39534244;40307207;40596516;8566756;8608946;8938429;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529",
"class_list": "",
"function": "RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed]; This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "Q59EK5;Q9BQA8",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex",
"go_biological_process": "GO:0000398 mRNA splicing, via spliceosome",
"synthesized_glycan_count": 0,
"hit_score": 19.9,
"record_id": "Q92917-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UBD0-1",
"uniprot_id": [
{
"id": "HSFX1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UBD0",
"type": "external"
}
],
"mass": 46742.0,
"length": 423,
"protein_name": "Heat shock transcription factor, X-linked",
"gene_name": "HSFX1; HSFX2",
"organism": "Human",
"refseq_name": "heat shock transcription factor, X-linked",
"refseq_ac": [
{
"id": "NP_001157887",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157887",
"type": "external"
}
],
"gene_names_uniprotkb": "HSFX1; HSFX2; LW-1",
"gene_names_refseq": "HSFX2",
"protein_names_uniprotkb": "Heat shock transcription factor, X-linked",
"protein_names_refseq": "heat shock transcription factor, X-linked",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:100130086); (hsa:100506164)",
"pathway_count": 2,
"publication_count": 8,
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},
{
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{
"id": "SRTD1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UHV2",
"type": "external"
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],
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"protein_name": "SERTA domain-containing protein 1",
"gene_name": "SERTAD1",
"organism": "Human",
"refseq_name": "SERTA domain-containing protein 1",
"refseq_ac": [
{
"id": "NP_037508",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_037508",
"type": "external"
}
],
"gene_names_uniprotkb": "SERTAD1; SEI1; TRIPBR1",
"gene_names_refseq": "SEI1; SERTAD1; TRIP-Br1; TRIPBR1",
"protein_names_uniprotkb": "SERTA domain-containing protein 1; CDK4-binding protein p34SEI1; SEI-1; TRIP-Br1; Transcriptional regulator interacting with the PHD-bromodomain 1; p34(SEI-1)",
"protein_names_refseq": "CDK4-binding protein p34SEI1; CDK4-binding protein p34SEI; SEI-1; SERTA domain-containing protein 1; p34(SEI-1); transcriptional regulator interacting with the PHD-bromodomain 1",
"tax_id": 9606,
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"pathway": " (hsa:29950)",
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"function": "Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A., [UniProtKB]; Inhibitory Role of TRIP-Br1/XIAP in Necroptosis under Nutrient/Serum Starvation., [RefSeq, PubMed]; Interacts with low- and high-risk HPV11 and HPV16 E6 proteins in yeast, in vitro and in mammalian cell cultures, [RefSeq, PubMed]; P34SEI-1 strongly suppressed CREB-mediated transcription, and this suppression was overcome by excess amount of CBP, [RefSeq, PubMed]; SERTAD1 initiates NLRP3-mediated inflammasome activation through restricting NLRP3 polyubiquitination., [RefSeq, PubMed]",
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"disease": "prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); cystinosis (Disease Ontology:DOID:1064); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); islet cell tumor (Disease Ontology:DOID:1799); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); non-functioning pancreatic endocrine tumor (Disease Ontology:DOID:7698); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); type 2 diabetes mellitus (Disease Ontology:DOID:9352); encephalitis (Disease Ontology:DOID:9588); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:MONDO:0012183)",
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"function": "DDX18 Facilitates the Tumorigenesis of Lung Adenocarcinoma by Promoting Cell Cycle Progression through the Upregulation of CDK4. Publication Status: Online-Only, [RefSeq, PubMed]; SelK promotes glioblastoma cell proliferation by inhibiting beta-TrCP1 mediated ubiquitin-dependent degradation of CDK4. Publication Status: Online-Only, [RefSeq, PubMed]; Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"id": "2.7.11.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8",
"type": "external"
},
{
"id": "2.7.11.19",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19",
"type": "external"
},
{
"id": "4.1.1.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32",
"type": "external"
},
{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
"type": "external"
},
{
"id": "2.7.11.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "3.1.13.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1",
"type": "external"
},
{
"id": "5.6.2.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6",
"type": "external"
},
{
"id": "3.6.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
"type": "external"
}
],
"go_molecular_function": "GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity;GO:0030332 cyclin binding;GO:0106310 protein serine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle",
"synthesized_glycan_count": 0,
"hit_score": 46.4,
"record_id": "P11802-1",
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"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95365-1",
"uniprot_id": [
{
"id": "ZBT7A_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95365",
"type": "external"
}
],
"mass": 61439.0,
"length": 584,
"protein_name": "Zinc finger and BTB domain-containing protein 7A",
"gene_name": "ZBTB7A",
"organism": "Human",
"refseq_name": "zinc finger and BTB domain-containing protein 7A",
"refseq_ac": [
{
"id": "NP_001304919",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919",
"type": "external"
}
],
"gene_names_uniprotkb": "ZBTB7A; FBI1; LRF; ZBTB7; ZNF857A",
"gene_names_refseq": "FBI-1; FBI1; LRF; MNDLFH; TIP21; ZBTB7A; ZBTB7; ZNF857A; pokemon",
"protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 7A; FBI-1; Factor binding IST protein 1; Factor that binds to inducer of short transcripts protein 1; HIV-1 1st-binding protein 1; Leukemia/lymphoma-related factor; POK erythroid myeloid ontogenic factor; POZ and Krueppel erythroid myeloid ontogenic factor; Pokemon 1; Pokemon; TIP21; TTF-I-interacting peptide 21; Zinc finger protein 857A",
"protein_names_refseq": "HIV-1 1st-binding protein 1; POK erythroid myeloid ontogenic factor; POZ and Krueppel erythroid myeloid ontogenic factor; TTF-I-interacting peptide 21; factor binding IST protein 1; factor that binds to inducer of short transcripts protein 1; leukemia/lymphoma-related factor; lymphoma related factor; pokemon 1; zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein; zinc finger and BTB domain-containing protein 7A; zinc finger protein 857A",
"tax_id": 9606,
"disease": "macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MONDO:MONDO:0859231)",
"pathway": " (hsa:51341)",
"pathway_count": 1,
"publication_count": 94,
"publication_id_list": "11907272;12004059;12750370;14701838;15302935;15662416;16964243;17052694;17081983;17189472;17322306;17595526;18220336;18452278;18669648;19413330;19415658;19651622;19690332;20068231;20812024;23186163;23481700;24275569;24514149;25114211;25218447;25418920;25505266;25514493;25576301;25892735;26446488;26455326;26816381;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28904123;29242379;29493099;29557506;29632711;29769354;29786170;29789417;29813070;30315122;30429286;30833945;31092671;31154438;31217245;31645653;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34509645;34515416;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37065756;37182800;37486375;38253038;39095579;39197198;40596516;9927193;9973611",
"class_list": "",
"function": "Found that FBI-1 binds to inverted sequence repeats downstream of the HIV-1 transcription start site, [RefSeq, PubMed]; POZ domain of FBI1 represses transcription of ADH5., [RefSeq, PubMed]; Pokemon inhibits Bim transcription to promote the proliferation, anti-anoikis, invasion, histological grade, and dukes stage of colorectal neoplasms. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that FBI-1 is a cellular factor that preferentially associates with active chromatin and that can specifically stimulate Tat-activated HIV-1 transcription., [RefSeq, PubMed]; Targeting Pokemon is a novel strategy to suppress cancer aggressiveness of non-small cell lung cancer: Identification of Pokemon as ideal target for developing anti-NSCLC drugs., [RefSeq, PubMed]; Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (PubMed:14701838, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26455326, PubMed:26816381). Directly and specifically binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions (PubMed:12004059, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26816381). Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms (PubMed:25514493). That is, recruits the chromatin regulator HDAC1 to the SMAD4-DNA complex and in parallel prevents the recruitment of the transcriptional activators CREBBP and EP300 (PubMed:25514493). Collaborates with transcription factors like RELA to modify the accessibility of gene transcription regulatory regions to secondary transcription factors (By similarity). Also directly interacts with transcription factors like SP1 to prevent their binding to DNA (PubMed:12004059). Functions as an androgen receptor/AR transcriptional corepressor by recruiting NCOR1 and NCOR2 to the androgen response elements/ARE on target genes (PubMed:20812024). Thereby, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Involved in the switch between fetal and adult globin expression during erythroid cells maturation (PubMed:26816381). Through its interaction with the NuRD complex regulates chromatin at the fetal globin genes to repress their transcription (PubMed:26816381). Specifically represses the transcription of the tumor suppressor ARF isoform from the CDKN2A gene (By similarity). Efficiently abrogates E2F1-dependent CDKN2A transactivation (By similarity). Regulates chondrogenesis through the transcriptional repression of specific genes via a mechanism that also requires histone deacetylation (By similarity). Regulates cell proliferation through the transcriptional regulation of genes involved in glycolysis (PubMed:26455326). Involved in adipogenesis through the regulation of genes involved in adipocyte differentiation (PubMed:14701838). Plays a key role in the differentiation of lymphoid progenitors into B and T lineages (By similarity). Promotes differentiation towards the B lineage by inhibiting the T-cell instructive Notch signaling pathway through the specific transcriptional repression of Notch downstream target genes (By similarity). Also regulates osteoclast differentiation (By similarity). May also play a role, independently of its transcriptional activity, in double-strand break repair via classical non-homologous end joining/cNHEJ (By similarity). Recruited to double-strand break sites on damage DNA, interacts with the DNA-dependent protein kinase complex and directly regulates its stability and activity in DNA repair (By similarity). May also modulate the splicing activity of KHDRBS1 toward BCL2L1 in a mechanism which is histone deacetylase-dependent and thereby negatively regulates the pro-apoptotic effect of KHDRBS1 (PubMed:24514149)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; Transcriptional repression of lncRNA and miRNA subsets mediated by LRF during erythropoiesis., [RefSeq, PubMed]; ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1., [RefSeq, PubMed]",
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"secondary_ac_list": "D6W619;O00456;Q14D41;Q5XG86",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0046332 SMAD binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0035861 site of double-strand break;GO:0070418 DNA-dependent protein kinase complex",
"go_biological_process": "GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:2000677 regulation of transcription regulatory region DNA binding;GO:0043249 erythrocyte maturation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006110 regulation of glycolytic process",
"synthesized_glycan_count": 0,
"hit_score": 9.8,
"record_id": "O95365-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96E35-1",
"uniprot_id": [
{
"id": "ZMY19_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96E35",
"type": "external"
}
],
"mass": 26433.0,
"length": 227,
"protein_name": "Zinc finger MYND domain-containing protein 19",
"gene_name": "ZMYND19",
"organism": "Human",
"refseq_name": "zinc finger MYND domain-containing protein 19",
"refseq_ac": [
{
"id": "NP_612471",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_612471",
"type": "external"
}
],
"gene_names_uniprotkb": "ZMYND19; MIZIP",
"gene_names_refseq": "MIZIP; ZMYND19",
"protein_names_uniprotkb": "Zinc finger MYND domain-containing protein 19; MCH-R1-interacting zinc finger protein; Melanin-concentrating hormone receptor 1-interacting zinc finger protein",
"protein_names_refseq": "MCH-R1-interacting zinc finger protein; melanin-concentrating hormone receptor 1 interacting zinc-finger protein; zinc finger MYND domain-containing protein 19; zinc finger, MYND domain containing 19",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:116225)",
"pathway_count": 1,
"publication_count": 19,
"publication_id_list": "12208518;16039987;24714562;25418920;25505266;26728094;29393594;29557506;30429286;31217245;31844290;32157095;32387766;32938616;32983136;33141586;33392160;33912179;35051231",
"class_list": "",
"function": "May be involved as a regulatory molecule in GPR24/MCH-R1 signaling., [UniProtKB]; Our results suggest that MIZIP might play an important role in mammalian cells by associating with tubulin and thus might provide a link between MCHR1 and tubulin functions., [RefSeq, PubMed]; Was identified from human brain and interacts with the C-terminus of melanin-concentrating hormone receptor 1, [RefSeq, PubMed]; ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]., [RefSeq]",
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"missing_score": 10000,
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"secondary_ac_list": "Q5T366",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 2.0,
"record_id": "Q96E35-1",
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},
{
"uniprot_canonical_ac": "P01732-1",
"uniprot_id": [
{
"id": "CD8A_HUMAN",
"url": "https://www.uniprot.org/uniprot/P01732",
"type": "external"
}
],
"mass": 25729.0,
"length": 235,
"protein_name": "T-cell surface glycoprotein CD8 alpha chain",
"gene_name": "CD8A",
"organism": "Human",
"refseq_name": "T-cell surface glycoprotein CD8 alpha chain isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001139345",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139345",
"type": "external"
}
],
"gene_names_uniprotkb": "CD8A; MAL",
"gene_names_refseq": "CD8A; CD8alpha; CD8; IMD116; Leu2; p32",
"protein_names_uniprotkb": "T-cell surface glycoprotein CD8 alpha chain; T-lymphocyte differentiation antigen T8/Leu-2",
"protein_names_refseq": "CD8 antigen, alpha polypeptide (p32); CD8a molecule; Leu2 T-lymphocyte antigen; OKT8 T-cell antigen; T cell co-receptor; T-cell antigen Leu2; T-cell surface glycoprotein CD8 alpha chain isoform 1 precursor; T-cell surface glycoprotein CD8 alpha chain; T-lymphocyte differentiation antigen T8/Leu-2; T8 T-cell antigen",
"tax_id": 9606,
"disease": "erythema multiforme (Disease Ontology:DOID:0050185); immunodeficiency 116 (Disease Ontology:DOID:0061082); COVID-19 (Disease Ontology:DOID:0080600); stomach cancer (Disease Ontology:DOID:10534); brain infarction (Disease Ontology:DOID:3454); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); amphetamine abuse (Disease Ontology:DOID:670)",
"pathway": " (hsa:925); (R-HSA-198933)",
"pathway_count": 2,
"publication_count": 118,
"publication_id_list": "10499918;10746781;11237011;11265639;11435463;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12853576;14500983;1460019;14719373;14970179;15034010;15136729;15155468;15187158;15304001;1547508;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16236125;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17341584;17658607;17678538;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23657257;23695528;23929856;24305946;2496167;2509342;2512251;2536941;25703557;25716998;25880248;26082771;26154972;26284469;26300885;26563160;2784196;28832583;29242379;29557506;29786170;30429286;30459171;31154438;31844290;32983136;35051231;38395904;38420798;3871356;38805302;38845009;39087476;3918796;3936473;6605969;7531291;7542404;7923932;8178173;8995416;9177355;9285412;9314561;9700512;9730896",
"class_list": "",
"function": "Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models. Publication Status: Online-Only, [RefSeq, PubMed]; Induced CD8alpha identifies human NK cells with enhanced proliferative fitness and modulates NK cell activation. Publication Status: Online-Only, [RefSeq, PubMed]; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). This mechanism enables CTLs to recognize and eliminate infected cells and tumor cells. In NK-cells, the presence of CD8A homodimers at the cell surface provides a survival mechanism allowing conjugation and lysis of multiple target cells. CD8A homodimer molecules also promote the survival and differentiation of activated lymphocytes into memory CD8 T-cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS). Publication Status: Online-Only, [RefSeq, PubMed]; Striking a balance: the Goldilocks effect of CD8alpha expression on NK cells. Publication Status: Online-Only, [RefSeq, PubMed]; The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]., [RefSeq]; The Role of CD8A in the Immune Microenvironment of Breast Cancer., [RefSeq, PubMed]",
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"secondary_ac_list": "B4DT80;D6W5M8;Q13970;Q4ZG17",
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"go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0015026 coreceptor activity;GO:0042288 MHC class I protein binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0044853 plasma membrane raft;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0042110 T cell activation;GO:0050852 T cell receptor signaling pathway",
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},
{
"uniprot_canonical_ac": "O75173-1",
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{
"id": "ATS4_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75173",
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}
],
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 4",
"gene_name": "ADAMTS4",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS4; KIAA0688; PRO1563",
"gene_names_refseq": "ADAMTS-2; ADAMTS-4; ADAMTS4; ADMP-1",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 4; 3.4.24.82; ADAM-TS 4; ADAM-TS4; ADAMTS-4; ADMP-1; Aggrecanase-1",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor; ADAM-TS 4; ADAM-TS4; a disintegrin and metalloproteinase with thrombospondin motifs 4; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4; aggrecanase-1; epididymis secretory sperm binding protein",
"tax_id": 9606,
"disease": "transient cerebral ischemia (Disease Ontology:DOID:224); rheumatoid arthritis (Disease Ontology:DOID:7148); degenerative disc disease (Disease Ontology:DOID:90); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:9507); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 4,
"publication_count": 81,
"publication_id_list": "10.1101/2023.09.13.557529;10229672;10356395;10386589;10706100;10809722;10827174;10986281;11067851;11237011;11375993;11872628;12727852;12843408;12975309;14973287;15234972;15591058;15958533;16133547;16464858;1649600;16631740;16723216;16825321;1698775;1707285;17332331;17354228;17608959;18042673;18434311;18658137;18718938;18720094;19010778;19071032;19571574;19657146;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22588082;23035980;23090970;23481700;23845380;23889335;23897278;24190977;25544610;30459171;31844290;31848261;32157095;32387766;32488085;33358865;33592498;34185709;35051231;38867123;38990242;39415271;39672391;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107",
"class_list": "glycogene",
"function": "ADAMTS-4_v1 is expressed as a protein in vivo in human osteoarthritis synovium, functions as an aggrecanase, and cleaves other proteoglycan substrates., [RefSeq, PubMed]; ADAMTS4 exacerbates lung cancer progression via regulating c-Myc protein stability and activating MAPK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Amino-terminally elongated Abeta peptides are generated by the secreted metalloprotease ADAMTS4 and deposit in a subset of Alzheimer's disease brains., [RefSeq, PubMed]; Analysis of osteoarthritic synovium using primers designed to amplify across the exon 8/9 junction resulted in amplification of the expected product and a smaller product missing 161 bp from the 5' end of exon 9, the result of alternative splicing, [RefSeq, PubMed]; Cleaves aggrecan, a cartilage proteoglycan, at the '392-Glu-|-Ala-393' site and may be involved in its turnover (PubMed:10356395, PubMed:10827174). Also cleaves COMP (PubMed:39672391). May play an important role in the destruction of aggrecan in arthritic diseases. Could be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease., [UniProtKB, PubMed, PubMed, PubMed]; MiR-126a-5p inhibits H1N1-induced inflammation and matrix protease secretion in lung fibroblasts by targeting ADAMTS-4. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]",
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"reported_snv": 1072,
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"missing_score": 3939,
"biomarker_type": "",
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"glyco_site_count": 8,
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"secondary_ac_list": "Q2HYD0;Q5VTW2;Q6P4Q8;Q6UWA8;Q9UN83",
"ec_number_list": [
{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
"type": "external"
},
{
"id": "3.4.24.82",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82",
"type": "external"
},
{
"id": "3.4.24.14",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14",
"type": "external"
},
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "3.4.24.87",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87",
"type": "external"
},
{
"id": "2.4.1.221",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
"type": "external"
}
],
"go_molecular_function": "GO:0002020 protease binding;GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0008233 peptidase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016607 nuclear speck;GO:0031012 extracellular matrix",
"go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development;GO:0030167 proteoglycan catabolic process",
"synthesized_glycan_count": 0,
"hit_score": 8.7,
"record_id": "O75173-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100101001001.111.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95198-1",
"uniprot_id": [
{
"id": "KLHL2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95198",
"type": "external"
}
],
"mass": 65975.0,
"length": 593,
"protein_name": "Kelch-like protein 2",
"gene_name": "KLHL2",
"organism": "Human",
"refseq_name": "kelch-like protein 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001154993",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154993",
"type": "external"
}
],
"gene_names_uniprotkb": "KLHL2",
"gene_names_refseq": "ABP-KELCH; KLHL2; MAV; MAYVEN",
"protein_names_uniprotkb": "Kelch-like protein 2; Actin-binding protein Mayven",
"protein_names_refseq": "actin-binding protein Mayven; kelch-like 2, Mayven; kelch-like protein 2 isoform 2; kelch-like protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11275); (R-HSA-8951664); (R-HSA-983168)",
"pathway_count": 3,
"publication_count": 167,
"publication_id_list": "10397770;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15383316;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15715669;15735724;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19615748;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23349464;23401859;23453757;23535662;23535663;23563313;23583660;23838290;23912815;23986495;24076655;24366543;24397554;24636985;24641320;24714562;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26811146;26906416;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28832583;29153394;29393594;29437277;29557506;30315122;30379171;30610225;30833945;31154438;31844290;32005965;32157095;32284348;32357974;32938616;33141586;33298915;33444648;33717175;33912179;34171305;34185709;34357683;34932366;35051231;35580925;36010968;36241641;37938771;9380723;9668046;9790970;9887101;9891082",
"class_list": "",
"function": "Overexpression of Mayven may promote tumor growth through c-Jun and cyclin D1, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, WNK1, WNK3 and WNK4, leading most often to their proteasomal degradation (PubMed:23838290). The BCR(KLHL2) complex catalyzes ubiquitination and degradation of NPTXR (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4 (PubMed:23838290). Plays a role in the reorganization of the actin cytoskeleton (PubMed:10397770). Promotes growth of cell projections in oligodendrocyte precursors (PubMed:15715669)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]",
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"secondary_ac_list": "A6NCM7;B2RD18;B4DFH7;F5H6M3;Q8N484;Q8TBH5",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0001726 ruffle",
"go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 17.0,
"record_id": "O95198-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O14880-1",
"uniprot_id": [
{
"id": "MGST3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14880",
"type": "external"
}
],
"mass": 16516.0,
"length": 152,
"protein_name": "Glutathione S-transferase 3, mitochondrial",
"gene_name": "MGST3",
"organism": "Human",
"refseq_name": "glutathione S-transferase 3, mitochondrial",
"refseq_ac": [
{
"id": "NP_004519",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004519",
"type": "external"
}
],
"gene_names_uniprotkb": "MGST3",
"gene_names_refseq": "GST-3; GST-III; MGST3",
"protein_names_uniprotkb": "Glutathione S-transferase 3, mitochondrial; 1.11.1.-; 2.5.1.-; 4.4.1.20; GST-3; Glutathione peroxidase MGST3; LTC4 synthase MGST3",
"protein_names_refseq": "LTC4 synthase MGST3; glutathione S-transferase 3, mitochondrial; glutathione peroxidase MGST3; microsomal GST-3; microsomal GST-III; microsomal glutathione S-transferase III",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4259); (R-HSA-156590); (R-HSA-5423646)",
"pathway_count": 3,
"publication_count": 105,
"publication_id_list": "10329152;10587441;10783391;11237011;11327815;11409944;11904223;12042665;12144777;12211029;12627223;12727802;12933810;14742434;1504254;16081649;16298388;16385575;1643250;16548513;16970545;18357469;18416522;19463;20083122;20085333;21044946;21106529;21668448;22522127;23162467;23481700;24715725;25576301;25645385;2573352;26154972;26375851;26768311;27184847;27600516;27846572;27920218;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30484775;31154438;31844290;31848261;31937595;32157095;32265295;32325220;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;3372534;33912179;33936100;34171305;34211107;35051231;35083852;35251023;36215666;36241641;36284347;36370807;3770744;37938771;3931076;4768551;7764673;7766804;8182750;8203914;8331657;8431482;8439558;8703034;8812420;8975785;9278457;9551553;9576847;9839448",
"class_list": "",
"function": "Displays both glutathione S-transferase and glutathione peroxidase activities toward oxyeicosanoids, as part of cellular detoxification as well as synthesis of bioactive metabolites (PubMed:36370807, PubMed:9278457). Catalyzes conjugate addition of reduced glutathione to the alpha, beta-unsaturated C=C carbonyl group of eisosanoids such as leukotriene A4 and 15-deoxy-Delta12,14-prostaglandin J2 to form GSH adducts relevant to the inflammatory response (PubMed:36370807, PubMed:9278457). Catalyzes glutathione-dependent reduction of eicosanoid peroxides to yield the corresponding eicosanoid hydroxides (PubMed:9278457)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 2,
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"secondary_ac_list": "B2R592;Q6ICN4",
"ec_number_list": [
{
"id": "1.11.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
"type": "external"
},
{
"id": "5.3.99.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3",
"type": "external"
},
{
"id": "2.5.1.18",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18",
"type": "external"
},
{
"id": "4.4.1.20",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20",
"type": "external"
},
{
"id": "2.5.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-",
"type": "external"
},
{
"id": "1.11.1.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12",
"type": "external"
},
{
"id": "1.11.1.9",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9",
"type": "external"
}
],
"go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0004464 leukotriene-C4 synthase activity;GO:0042802 identical protein binding;GO:0004602 glutathione peroxidase activity;GO:0016740 transferase activity",
"go_cellular_component": "GO:0005635 nuclear envelope;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane",
"go_biological_process": "GO:0006629 lipid metabolic process;GO:0019370 leukotriene biosynthetic process;GO:0019369 arachidonate metabolic process;GO:0006692 prostanoid metabolic process;GO:0006691 leukotriene metabolic process",
"synthesized_glycan_count": 0,
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"record_id": "O14880-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9P2F9-1",
"uniprot_id": [
{
"id": "ZN319_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2F9",
"type": "external"
}
],
"mass": 65547.0,
"length": 582,
"protein_name": "Zinc finger protein 319",
"gene_name": "ZNF319",
"organism": "Human",
"refseq_name": "zinc finger protein 319",
"refseq_ac": [
{
"id": "NP_065858",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065858",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF319; KIAA1388",
"gene_names_refseq": "ZFP319; ZNF319",
"protein_names_uniprotkb": "Zinc finger protein 319",
"protein_names_refseq": "zinc finger protein 319",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57567)",
"pathway_count": 1,
"publication_count": 21,
"publication_id_list": "11237011;20068231;25755297;26992070;27846572;28832583;28834231;28904123;29242379;29393594;29493099;29789417;30429286;31154438;31844290;32357974;32897882;33392160;33968037;34902746;35580925",
"class_list": "",
"function": "Genome-wide CRISPR/Cas9 knockout screening uncovers ZNF319 as a novel tumor suppressor critical for breast cancer metastasis., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]",
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"secondary_ac_list": "Q52LH8",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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{
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"tax_id": 9606,
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"pathway": " (hsa:55722); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)",
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"function": "Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia., [RefSeq, PubMed]; Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.', trans 'Assoziation von CEP72 rs924607TTGenotyp mit Vincristin-induzierter peripherer Neuropathie, gemessen durch Untersuchungen der motorischen Nervenleitung. Erratum:[Klin Padiatr. 2020 Nov;232(6):e12. doi: 10.1055/a-1313-8762. PMID: 33242893], [RefSeq, PubMed]; Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients., [RefSeq, PubMed]; Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs) (PubMed:19536135). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"protein_name": "Butyrophilin subfamily 3 member A2",
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"function": "CpG-specific DNA methylation of ADAMTSL2 and BTN3A2 at rheumatoid arthritis diagnosis can serve as a marker of treatment response., [RefSeq, PubMed]; Our results identify PRSS16 and BTN3A2, two genes thought to play important roles in regulating the immune response, as potentially novel susceptibility genes for Type I Deabetes. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]",
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{
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],
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"protein_name": "Beclin-2",
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],
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"tax_id": 9606,
"disease": "breast cancer (Disease Ontology:DOID:1612); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:441925)",
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"function": "Beclin 2 negatively regulates innate immune signaling and tumor development., [RefSeq, PubMed]; Both transfected and endogenous beclin 2 coimmunoprecipitated with vGPCR. Beclin 2 overexpression decreased HA-vGPCR steady-state levels. It regulates vGPCR levels by a lysosomal degradation pathway., [RefSeq, PubMed]; Distinct patterns of Beclin 1 and Beclin 2 were associated with aggressive clinical outcomes. Beclin 1 overexpression, as well as Beclin 2 overexpression and depletion, contributed to tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; Further data showed that reactive oxygen species-c-Jun activation by HBx resulted in the release of beclin-1 from its association with beclin-2 to form a complex with VPS34, thus enhancing autophagosome formation. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G protein-coupled receptors turnover. Regulates degradation in lysosomes of a variety of G protein-coupled receptors via its interaction with GPRASP1/GASP1., [UniProtKB, PubMed]; Polar BECN2 CCD interface residues result in a metastable homodimer, facilitating dissociation, but enable better interactions with polar ATG14 residues stabilizing the BECN2:ATG14 heterodimer., [RefSeq, PubMed]; Study identified a previously uncharacterized mammalian-specific protein, Beclin 2, which, like Beclin 1, functions in autophagy and interacts with class III PI3K complex components.[Beclin 2], [RefSeq, PubMed]",
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},
{
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{
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],
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"protein_name": "Meiosis initiator protein",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001297053",
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],
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"protein_names_refseq": "HMG domain containing; basic helix-loop-helix and HMG box domain containing 1; basic helix-loop-helix and HMG box domain-containing protein 1; basic helix-loop-helix and HMG-box containing 1; meiosis initiator protein",
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"function": "Gatekeeper of meiotic initiation in both male and female germ cells. In complex with STRA8, directly activates the transcription of a subset of critical meiotic genes playing a central role in cell-cycle switching from mitosis to meiosis. Temporal expression of MEIOSIN is required for meiotic entry decision., [UniProtKB, UniProtKB]; Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0071300 cellular response to retinoic acid;GO:0048477 oogenesis",
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{
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"protein_name": "Betaine--homocysteine S-methyltransferase 1",
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],
"gene_names_uniprotkb": "BHMT",
"gene_names_refseq": "BHMT1; BHMT; HEL-S-61p",
"protein_names_uniprotkb": "Betaine--homocysteine S-methyltransferase 1; 2.1.1.5",
"protein_names_refseq": "betaine--homocysteine S-methyltransferase 1; epididymis secretory sperm binding protein Li 61p; phi-crystallin",
"tax_id": 9606,
"disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); cerebral infarction (Disease Ontology:DOID:3526); hepatocellular carcinoma (Disease Ontology:DOID:684); pulmonary embolism (Disease Ontology:DOID:9477)",
"pathway": " (hsa:635); (R-HSA-1614635); (R-HSA-6798163)",
"pathway_count": 3,
"publication_count": 40,
"publication_id_list": "10075673;10444331;10529246;10767172;10966938;11231903;11237011;12220488;12818402;12951056;14429690;16729965;18230605;18457970;19236841;19357133;20207735;22825317;25892735;26374642;27486859;27862975;29557506;30315122;30429286;31558761;31844290;33124720;33894044;33912179;33975330;34019948;34357683;35580925;37203835;39117631;6163778;8798461;9281325;9681996",
"class_list": "",
"function": "BHMT polymorphism and susceptibility to PTE in Chinese patients. Erratum:[Eur Rev Med Pharmacol Sci. 2023 Jul;27(13):5947. doi: 10.26355/eurrev_202307_32944. PMID: 37458620], [RefSeq, PubMed]; Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients., [RefSeq, PubMed]; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Lower levels of BHMT or CBS promoter total methylation might be associated with increased the risk of treatment failure., [RefSeq, PubMed]; Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis. Erratum:[Signal Transduct Target Ther. 2024 Dec 11;9(1):360. doi: 10.1038/s41392-024-02054-1. PMID: 39663370] Publication Status: Online-Only, [RefSeq, PubMed]; The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_phosphosites": 1,
"reported_mutagensis": 12,
"reported_glycation": 0,
"reported_snv": 1,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 5,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q9UNI9",
"ec_number_list": [
{
"id": "2.1.1.5",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.5",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0047150 betaine-homocysteine S-methyltransferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0032259 methylation;GO:0006577 amino-acid betaine metabolic process;GO:0006579 amino-acid betaine catabolic process;GO:0071267 L-methionine salvage;GO:0071266 'de novo' L-methionine biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 4.3,
"record_id": "Q93088-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O75531-1",
"uniprot_id": [
{
"id": "BAF_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75531",
"type": "external"
}
],
"mass": 10059.0,
"length": 89,
"protein_name": "Barrier-to-autointegration factor",
"gene_name": "BANF1",
"organism": "Human",
"refseq_name": "barrier-to-autointegration factor",
"refseq_ac": [
{
"id": "NP_001137457",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457",
"type": "external"
}
],
"gene_names_uniprotkb": "BANF1; BAF; BCRG1",
"gene_names_refseq": "BAF; BANF1; BCRP1; D14S1460; NGPS",
"protein_names_uniprotkb": "Barrier-to-autointegration factor; Breakpoint cluster region protein 1",
"protein_names_refseq": "BAF nuclear assembly factor 1; barrier to autointegration factor 1; barrier-to-autointegration factor; breakpoint cluster region protein 1",
"tax_id": 9606,
"disease": "Nestor-Guillermo progeria syndrome (Disease Ontology:DOID:0081334); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:8815); (R-HSA-162592); (R-HSA-164843); (R-HSA-175567); (R-HSA-177539); (R-HSA-180689); (R-HSA-180910); (R-HSA-2980766); (R-HSA-2995383)",
"pathway_count": 9,
"publication_count": 123,
"publication_id_list": "10908652;10924106;11005805;11237011;11285238;11792822;12163470;12228227;12493765;12663813;12808465;14645565;15098018;15130582;15479846;15546916;15681850;15731250;16175173;16203725;16291214;16337940;16339967;16371512;16495336;16680152;16704422;17170708;18005698;18628300;19413330;19608861;19620630;20068231;20511217;20576617;20711181;21549337;2171144;21795390;22121020;22399800;22770216;24265311;24430874;24600006;24715725;24945635;2539592;25576301;25645385;25810538;25991860;26154972;26375851;26992070;27397612;27543614;27600516;27846572;27862975;27875273;27920218;28228285;28510447;28832583;28834231;28841419;28904123;29242379;29493099;29508533;29557506;29632711;29786170;29789417;30315122;3032450;30429286;30484775;30833945;31164634;31222486;31796734;31844290;31848261;31998317;32157095;32350084;32494070;32502341;32792394;32897882;32938616;32983136;33691108;33717175;33744941;33981976;34019948;34087483;34171305;34909681;35051231;35251023;35561310;35580925;36284347;36746947;37938771;37982568;38129539;38261746;7937898;8883604;9038339;9188609;9436978;9465049;9582382;9740667;9783751;9860958",
"class_list": "",
"function": "(Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome (PubMed:11005805, PubMed:16680152, PubMed:9465049). EMD and BAF are cooperative cofactors of HIV-1 infection (PubMed:16680152). Association of EMD with the viral DNA requires the presence of BAF and viral integrase (PubMed:16680152). The association of viral DNA with chromatin requires the presence of BAF and EMD (PubMed:16680152)., [UniProtKB, PubMed, PubMed, PubMed]; Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments., [RefSeq, PubMed]; Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubMed:18005698, PubMed:25991860, PubMed:28841419, PubMed:31796734, PubMed:32792394). Contains two non-specific double-stranded DNA (dsDNA)-binding sites which promote DNA cross-bridging (PubMed:9465049). Plays a key role in nuclear membrane reformation at the end of mitosis by driving formation of a single nucleus in a spindle-independent manner (PubMed:28841419). Transiently cross-bridges anaphase chromosomes via its ability to bridge distant DNA sites, leading to the formation of a dense chromatin network at the chromosome ensemble surface that limits membranes to the surface (PubMed:28841419). Also acts as a negative regulator of innate immune activation by restricting CGAS activity toward self-DNA upon acute loss of nuclear membrane integrity (PubMed:32792394). Outcompetes CGAS for DNA-binding, thereby preventing CGAS activation and subsequent damaging autoinflammatory responses (PubMed:32792394). Also involved in DNA damage response: interacts with PARP1 in response to oxidative stress, thereby inhibiting the ADP-ribosyltransferase activity of PARP1 (PubMed:31796734). Involved in the recognition of exogenous dsDNA in the cytosol: associates with exogenous dsDNA immediately after its appearance in the cytosol at endosome breakdown and is required to avoid autophagy (PubMed:25991860). In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication (PubMed:18005698)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study., [RefSeq, PubMed]; RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling., [RefSeq, PubMed]; The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "O60558;Q6FGG7",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0003690 double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0006979 response to oxidative stress;GO:0045071 negative regulation of viral genome replication;GO:0009615 response to virus;GO:0006325 chromatin organization;GO:0007084 mitotic nuclear membrane reassembly",
"synthesized_glycan_count": 0,
"hit_score": 12.6,
"record_id": "O75531-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P46663-1",
"uniprot_id": [
{
"id": "BKRB1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P46663",
"type": "external"
}
],
"mass": 40495.0,
"length": 353,
"protein_name": "B1 bradykinin receptor",
"gene_name": "BDKRB1",
"organism": "Human",
"refseq_name": "B1 bradykinin receptor",
"refseq_ac": [
{
"id": "NP_000701",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000701",
"type": "external"
}
],
"gene_names_uniprotkb": "BDKRB1; BRADYB1",
"gene_names_refseq": "B1BKR; B1R; BDKRB1; BKB1R; BKR1; BRADYB1",
"protein_names_uniprotkb": "B1 bradykinin receptor; B1R; BK-1 receptor",
"protein_names_refseq": "B1 bradykinin receptor; BK-1 receptor; bradykinin B1 receptor; bradykinin receptor 1",
"tax_id": 9606,
"disease": "overactive bladder syndrome (Disease Ontology:DOID:0070355); pleurisy (Disease Ontology:DOID:10247); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); epilepsy (Disease Ontology:DOID:1826); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary fibrosis (Disease Ontology:DOID:3770); rhinitis (Disease Ontology:DOID:4483); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); diabetic neuropathy (Disease Ontology:DOID:9743)",
"pathway": " (hsa:623); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)",
"pathway_count": 4,
"publication_count": 135,
"publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10422787;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11007482;11015615;11237011;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16634148;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;19413330;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;2841328;3086311;3202875;32938616;33284471;3366244;35051231;3525564;36142237;37703419;37818853;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8651911;8660997;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594",
"class_list": "",
"function": "Bradykinin receptor expression and bradykinin-mediated sensitization of human sensory neurons., [RefSeq, PubMed]; Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020]., [RefSeq]; Bradykinin-bradykinin receptor (B1R) signalling is involved in the blood-brain barrier disruption in moyamoya disease., [RefSeq, PubMed]; Correlation of matrix-related airway remodeling and bradykinin B1 receptor expression with fixed airflow obstruction in severe asthma., [RefSeq, PubMed]; The Role of Bradykinin Receptors in Hereditary Angioedema Due to C1-Inhibitor Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]",
"predicted_glycosites": 3,
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"missing_score": 10000,
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"secondary_ac_list": "A8K7F5;Q546S7;Q8N0Y8",
"ec_number_list": [],
"go_molecular_function": "GO:0042277 peptide binding;GO:0004947 bradykinin receptor activity",
"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane",
"go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0016477 cell migration;GO:0032496 response to lipopolysaccharide",
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"record_id": "P46663-1",
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},
{
"uniprot_canonical_ac": "P35070-1",
"uniprot_id": [
{
"id": "BTC_HUMAN",
"url": "https://www.uniprot.org/uniprot/P35070",
"type": "external"
}
],
"mass": 19746.0,
"length": 178,
"protein_name": "Probetacellulin",
"gene_name": "BTC",
"organism": "Human",
"refseq_name": "probetacellulin isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001303892",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303892",
"type": "external"
}
],
"gene_names_uniprotkb": "BTC",
"gene_names_refseq": "BTC",
"protein_names_uniprotkb": "Probetacellulin",
"protein_names_refseq": "probetacellulin isoform 2 precursor; probetacellulin",
"tax_id": 9606,
"disease": "otitis media (Disease Ontology:DOID:10754); insulinoma (Disease Ontology:DOID:3892); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:685); (R-HSA-1227986); (R-HSA-1236394); (R-HSA-1250196); (R-HSA-1250342); (R-HSA-1250347); (R-HSA-1251985); (R-HSA-1257604); (R-HSA-177929); (R-HSA-179812); (R-HSA-180292); (R-HSA-180336); (R-HSA-182971); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-212718); (R-HSA-2219530); (R-HSA-5638303); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8863795); (R-HSA-9009391); (R-HSA-9634638); (R-HSA-9664565); (R-HSA-9665686)",
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"publication_count": 558,
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"class_list": "",
"function": "Betacellulin enhances ovarian cancer cell migration by up-regulating Connexin43 via MEK-ERK signaling., [RefSeq, PubMed]; Betacellulin regulates gap junction intercellular communication by inducing the phosphorylation of connexin 43 in human granulosa-lutein cells. Publication Status: Online-Only, [RefSeq, PubMed]; Despite both ligands binding to the EGFR, BTC biases the EGFR to dimerize with ErbB3 to regulate the biologic response., [RefSeq, PubMed]; Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells., [UniProtKB, PubMed]; This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]., [RefSeq]",
"predicted_glycosites": 1,
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"secondary_ac_list": "Q96F48",
"ec_number_list": [],
"go_molecular_function": "GO:0005154 epidermal growth factor receptor binding;GO:0008083 growth factor activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane",
"go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0051781 positive regulation of cell division;GO:0045840 positive regulation of mitotic nuclear division;GO:0038134 ERBB2-EGFR signaling pathway",
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"record_id": "P35070-1",
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},
{
"uniprot_canonical_ac": "Q6E213-1",
"uniprot_id": [
{
"id": "AWAT2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6E213",
"type": "external"
}
],
"mass": 38094.0,
"length": 333,
"protein_name": "Acyl-CoA wax alcohol acyltransferase 2",
"gene_name": "AWAT2",
"organism": "Human",
"refseq_name": "acyl-CoA wax alcohol acyltransferase 2",
"refseq_ac": [
{
"id": "NP_001002254",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002254",
"type": "external"
}
],
"gene_names_uniprotkb": "AWAT2; DC4; DGAT2L4; MFAT; WS",
"gene_names_refseq": "ARAT; AWAT2; DC4; DGAT2L4; MFAT; WS",
"protein_names_uniprotkb": "Acyl-CoA wax alcohol acyltransferase 2; 11-cis-RE-synthase; 11-cis-specific retinyl-ester synthase; 2.3.1.20; 2.3.1.75; 2.3.1.76; ARAT; Acyl-CoA retinol O-fatty-acyltransferase; Diacylglycerol O-acyltransferase 2-like protein 4; Diacylglycerol O-acyltransferase candidate 4; Long-chain-alcohol O-fatty-acyltransferase 2; Multifunctional O-acyltransferase; Retinol O-fatty-acyltransferase; Wax synthase; hDC4; hWS",
"protein_names_refseq": "11-cis-RE-synthase; 11-cis-specific retinyl-ester synthase; acyl-CoA retinol O-fatty-acyltransferase; acyl-CoA wax alcohol acyltransferase 2; diacylglycerol O-acyltransferase 2-like protein 4; diacylglycerol O-acyltransferase candidate 4; long-chain-alcohol O-fatty-acyltransferase 2; multifunctional O-acyltransferase; retinol O-fatty-acyltransferase",
"tax_id": 9606,
"disease": "dry eye syndrome (Disease Ontology:DOID:10140)",
"pathway": " (hsa:158835); (R-HSA-1482883); (R-HSA-2187335); (R-HSA-9640463)",
"pathway_count": 4,
"publication_count": 37,
"publication_id_list": "11237011;11481335;12177057;12367507;14521909;14970677;15220348;15220349;15272052;15364929;15671038;16106050;16128572;1742276;18452279;1925597;19781940;19846785;19957260;19962385;20034933;21068004;2303470;23143414;23905688;24799687;2542268;28096191;28420705;2937147;3170584;34838721;3485310;4772407;9541407;9705317;9756920",
"class_list": "",
"function": "Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15220349, PubMed:15671038, PubMed:16106050, PubMed:28420705). Shows a preference for medium chain acyl-CoAs from C12 to C16 in length and fatty alcohols shorter than C20, as the acyl donors and acceptors, respectively (PubMed:15220349, PubMed:15671038). Also possesses acyl-CoA retinol acyltransferase (ARAT) activity that preferentially esterifies 11-cis-retinol, a chromophore precursor of bleached opsin pigments in cone cells (PubMed:16106050, PubMed:24799687). Shows higher catalytic efficiency toward 11-cis-retinol versus 9-cis-retinol, 13-cis-retinol, and all-trans-retinol substrates (PubMed:24799687)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Analysis of AWAT1 and AWAT2 substrate specificity and differentiation-specific expression pattern, [RefSeq, PubMed]; Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes., [RefSeq, PubMed]; MFAT is a multifunctional acyltransferase that likely plays an important role in lipid metabolism in human skin., [RefSeq, PubMed]; This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]., [RefSeq]",
"predicted_glycosites": 0,
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"missing_score": 10000,
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"secondary_ac_list": "Q6IEE3;Q6P437",
"ec_number_list": [
{
"id": "2.3.1.20",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20",
"type": "external"
},
{
"id": "2.3.1.76",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76",
"type": "external"
},
{
"id": "3.1.1.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4",
"type": "external"
},
{
"id": "3.1.1.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3",
"type": "external"
},
{
"id": "2.3.1.22",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22",
"type": "external"
},
{
"id": "2.3.1.75",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.75",
"type": "external"
},
{
"id": "2.3.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0004144 diacylglycerol O-acyltransferase activity;GO:0047196 long-chain-alcohol O-fatty-acyltransferase activity;GO:0003846 2-acylglycerol O-acyltransferase activity;GO:0050252 retinol O-fatty-acyltransferase activity;GO:0008374 O-acyltransferase activity",
"go_cellular_component": "GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006629 lipid metabolic process;GO:0010025 wax biosynthetic process;GO:0036155 acylglycerol acyl-chain remodeling;GO:0006640 monoacylglycerol biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 3.8,
"record_id": "Q6E213-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P50895-1",
"uniprot_id": [
{
"id": "BCAM_HUMAN",
"url": "https://www.uniprot.org/uniprot/P50895",
"type": "external"
}
],
"mass": 67405.0,
"length": 628,
"protein_name": "Basal cell adhesion molecule",
"gene_name": "BCAM",
"organism": "Human",
"refseq_name": "basal cell adhesion molecule isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001013275",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013275",
"type": "external"
}
],
"gene_names_uniprotkb": "BCAM; LU; MSK19",
"gene_names_refseq": "AU; B-CAM; BCAM; CD239; F8/G253; LU; MSK19",
"protein_names_uniprotkb": "Basal cell adhesion molecule; Auberger B antigen; B-CAM cell surface glycoprotein; F8/G253 antigen; Lutheran antigen; Lutheran blood group glycoprotein",
"protein_names_refseq": "Auberger b antigen; B-CAM cell surface glycoprotein; B-cell adhesion molecule; F8/G253 antigen; Lutheran blood group variant LUGA; basal cell adhesion molecule (Lu and Au blood groups); basal cell adhesion molecule isoform 2 precursor",
"tax_id": 9606,
"disease": "obsolete blood group--lutheran system (MONDO:MONDO:0020614); obsolete lutheran null (MONDO:MONDO:0044257)",
"pathway": " (hsa:4059)",
"pathway_count": 1,
"publication_count": 45,
"publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12754519;15238148;15975931;16335952;17158232;17319831;17638854;18815288;23090970;23160466;24190977;24275569;24366607;25576301;25813380;27862975;29391424;29557506;29741879;30429286;31413112;32157095;32350084;32938616;33592498;33968037;34019948;34087483;34171305;35051231;35251023;35580925;37074911;37340703;37938771;38665916;40930100;7777537;7954395;9166867;9192786;9616226",
"class_list": "",
"function": "The Laminin 511/521-binding site on the Lutheran blood group glycoprotein is located at the flexible junction of Ig domains 2 and 3., [RefSeq, PubMed]; The interaction of the Lu cytoplasmic tail with the cytoskeleton regulates its adhesive receptor function, [RefSeq, PubMed]; This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Transmembrane glycoprotein that functions as both a receptor and an adhesion molecule playing a crucial role in cell adhesion, motility, migration and invasion (PubMed:9616226, PubMed:31413112). Extracellular domain enables binding to extracellular matrix proteins, such as laminin, integrin and other ligands while its intracellular domain interacts with cytoskeletal proteins like hemoglobin, facilitating cell signal transduction (PubMed:17158232). Serves as a receptor for laminin alpha-5/LAMA5 to promote cell adhesion (PubMed:15975931). Mechanistically, JAK2 induces BCAM phosphorylation and activates its adhesion to laminin by stimulating a Rap1/AKT signaling pathway in the absence of EPOR (PubMed:23160466)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]",
"predicted_glycosites": 2,
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"reported_mutagensis": 3,
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"reported_snv": 32,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 67,
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"secondary_ac_list": "A8MYF9;A9YWT5;A9YWT6;Q86VC7",
"ec_number_list": [],
"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0043236 laminin binding;GO:0005055 laminin receptor activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007160 cell-matrix adhesion",
"synthesized_glycan_count": 0,
"hit_score": 11.9,
"record_id": "P50895-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000011001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O14981-1",
"uniprot_id": [
{
"id": "BTAF1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14981",
"type": "external"
}
],
"mass": 206887.0,
"length": 1849,
"protein_name": "TATA-binding protein-associated factor 172",
"gene_name": "BTAF1",
"organism": "Human",
"refseq_name": "TATA-binding protein-associated factor 172",
"refseq_ac": [
{
"id": "NP_003963",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003963",
"type": "external"
}
],
"gene_names_uniprotkb": "BTAF1; TAF172",
"gene_names_refseq": "BTAF1; MOT1; TAF(II)170; TAF172; TAFII170",
"protein_names_uniprotkb": "TATA-binding protein-associated factor 172; 3.6.4.-; ATP-dependent helicase BTAF1; B-TFIID transcription factor-associated 170 kDa subunit; TAF(II)170; TAF-172; TBP-associated factor 172",
"protein_names_refseq": "ATP-dependent helicase BTAF1; B-TFIID transcription factor-associated 170 kDa subunit; BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae); TATA-binding protein-associated factor 172; TBP-associated factor 172",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9044)",
"pathway_count": 1,
"publication_count": 78,
"publication_id_list": "10642510;15302935;15509807;16385451;16531235;17547437;18025106;18691976;19691289;20627952;22424782;23186163;23481700;24366607;24715725;25418920;25576301;25645385;25802875;25892735;26154972;26811146;26992070;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;9342322;9488487",
"class_list": "",
"function": "Histone acetylation, although it occurs, is dispensable for TFIID and SWI/SNF recruitment by the strong enhancers, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner., [UniProtKB]; Results support a model for a BTAF1-mediated release of TBP-NC2 complexes from chromatin., [RefSeq, PubMed]; This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]., [RefSeq]; We propose that these density rearrangements in the structure are a likely reflection of the plasticity of the interactions between TFIID and its many partner proteins., [RefSeq, PubMed]",
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"biomarker_type": "",
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B4E0W6;O43578",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003712 transcription coregulator activity;GO:0017025 TBP-class protein binding",
"go_cellular_component": "GO:0005654 nucleoplasm",
"go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0035562 negative regulation of chromatin binding",
"synthesized_glycan_count": 0,
"hit_score": 8.1,
"record_id": "O14981-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O15072-1",
"uniprot_id": [
{
"id": "ATS3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15072",
"type": "external"
}
],
"mass": 135603.0,
"length": 1205,
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 3",
"gene_name": "ADAMTS3",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 3 preproprotein",
"refseq_ac": [
{
"id": "NP_055058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055058",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS3; KIAA0366",
"gene_names_refseq": "ADAMTS-4; ADAMTS3; HKLLS3",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 3; 3.4.24.-; ADAM-TS 3; ADAM-TS3; ADAMTS-3; PC II-NP; Procollagen II N-proteinase; Procollagen II amino propeptide-processing enzyme",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 3 preproprotein; ADAM-TS 3; ADAM-TS3; ADAMTS-3; PC II-NP; a disintegrin and metalloproteinase with thrombospondin motifs 3; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3; procollagen II N-proteinase; procollagen II amino propeptide-processing enzyme; zinc metalloendopeptidase",
"tax_id": 9606,
"disease": "Hennekam syndrome (Disease Ontology:DOID:0060366); hennekam lymphangiectasia-lymphedema syndrome 3 (MONDO:MONDO:0032564)",
"pathway": " (hsa:9508); (R-HSA-1650814); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 4,
"publication_count": 56,
"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10479448;10934207;11067851;11408482;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16464858;16591531;18487197;18720094;19075007;19693541;19796186;20470363;21878990;21967573;22588082;23584533;23889335;2543975;25544610;28985353;29242379;29518549;29557506;29789417;30450763;31154438;31611695;3173483;31844290;32161166;32350084;32488085;33968037;35051231;35251023;36010968;37217939;37336268;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318",
"class_list": "",
"function": "ADAMTS3 restricts cancer invasion in models of early breast cancer progression through enhanced fibronectin degradation., [RefSeq, PubMed]; Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens., [UniProtKB]; Molecular cloning and in silico analysis identify potential transcription factor binding sites in the ADAMTS3 promoter region and show that SP1 downregulated ADAMTS3 transcriptional activity in osteosarcoma cell lines. As consistent with the transcriptional activity, mRNA, and protein expression levels were also decreased by SP1., [RefSeq, PubMed]; Results corroborate the recent in vitro and murine data that suggest a close functional interaction between ADAMTS3 and CCBE1 in triggering VEGFR3 signaling, a cornerstone for the differentiation and function of lymphatic endothelial cells., [RefSeq, PubMed]; There is report of one family supporting mutations in ADAMTS3 as causative for the phenotype labeled as HKLLS3. Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of ADAMTS3., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]., [RefSeq]",
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"biomarker_type": "",
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"disease_count": 2,
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"secondary_ac_list": "A1L3U9;Q9BXZ8",
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{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
"type": "external"
},
{
"id": "3.4.24.82",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82",
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},
{
"id": "3.4.24.14",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14",
"type": "external"
},
{
"id": "3.4.24.19",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19",
"type": "external"
},
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "3.4.24.87",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87",
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
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}
],
"go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0008201 heparin binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0010573 vascular endothelial growth factor production",
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"hit_score": 7.8,
"record_id": "O15072-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O75061-1",
"uniprot_id": [
{
"id": "AUXI_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75061",
"type": "external"
}
],
"mass": 99997.0,
"length": 913,
"protein_name": "Auxilin",
"gene_name": "DNAJC6",
"organism": "Human",
"refseq_name": "auxilin isoform 1",
"refseq_ac": [
{
"id": "NP_001243793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243793",
"type": "external"
}
],
"gene_names_uniprotkb": "DNAJC6; KIAA0473",
"gene_names_refseq": "DJC6; DNAJC6; PARK19",
"protein_names_uniprotkb": "Auxilin; 3.1.3.-; DnaJ homolog subfamily C member 6",
"protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 6; DnaJ (Hsp40) homolog, subfamily C, member 6; auxilin isoform 1; auxilin; putative tyrosine-protein phosphatase auxilin",
"tax_id": 9606,
"disease": "Parkinson's disease 19A (Disease Ontology:DOID:0060891); Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:9829); (R-HSA-432720); (R-HSA-432722); (R-HSA-8856828)",
"pathway_count": 4,
"publication_count": 206,
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"class_list": "",
"function": "DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia., [RefSeq, PubMed]; DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]., [RefSeq]; Downregulation of Protease Cathepsin D and Upregulation of Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Early onset Parkinson is associated with several SNPs and haplotypes of DNAJC6 gene., [RefSeq, PubMed]; Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a protein phosphatase and/or a lipid phosphatase. Co-chaperone that recruits HSPA8/HSC70 to clathrin-coated vesicles (CCVs) and promotes the ATP-dependent dissociation of clathrin from CCVs and participates in clathrin-mediated endocytosis of synaptic vesicles and their recycling and also in intracellular trafficking (PubMed:18489706). Firstly, binds tightly to the clathrin cages, at a ratio of one DNAJC6 per clathrin triskelion. The HSPA8:ATP complex then binds to the clathrin-auxilin cage, initially at a ratio of one HSPA8 per triskelion leading to ATP hydrolysis stimulation and causing a conformational change in the HSPA8. This cycle is repeated three times to drive to a complex containing the clathrin-auxilin cage associated to three HSPA8:ADP complex. The ATP hydrolysis of the third HSPA8:ATP complex leads to a concerted dismantling of the cage into component triskelia. Then, dissociates from the released triskelia and be recycled to initiate another cycle of HSPA8's recruitment. Also acts during the early steps of clathrin-coated vesicle (CCV) formation through its interaction with the GTP bound form of DNM1 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations. Erratum:[Sci Adv. 2023 Nov 3;9(44):eadl1498. doi: 10.1126/sciadv.adl1498. PMID: 37922364] Publication Status: Online-Only, [RefSeq, PubMed]",
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "B7Z3V8;D3DQ65;D3DQ66;Q32M66;Q4G0K1;Q5T614;Q5T615",
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{
"id": "3.1.22.1",
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"type": "external"
},
{
"id": "2.7.1.153",
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},
{
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},
{
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},
{
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},
{
"id": "3.1.3.-",
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},
{
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},
{
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},
{
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},
{
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{
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{
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{
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{
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{
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},
{
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{
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{
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0017124 SH3 domain binding;GO:0031072 heat shock protein binding;GO:0030276 clathrin binding;GO:0004721 phosphoprotein phosphatase activity;GO:0032050 clathrin heavy chain binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0030136 clathrin-coated vesicle;GO:0031982 vesicle",
"go_biological_process": "GO:0072583 clathrin-dependent endocytosis;GO:0046907 intracellular transport;GO:0036465 synaptic vesicle recycling;GO:0072318 clathrin coat disassembly;GO:0016191 synaptic vesicle uncoating",
"synthesized_glycan_count": 0,
"hit_score": 20.7,
"record_id": "O75061-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95816-1",
"uniprot_id": [
{
"id": "BAG2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95816",
"type": "external"
}
],
"mass": 23772.0,
"length": 211,
"protein_name": "BAG family molecular chaperone regulator 2",
"gene_name": "BAG2",
"organism": "Human",
"refseq_name": "BAG family molecular chaperone regulator 2",
"refseq_ac": [
{
"id": "NP_004273",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273",
"type": "external"
}
],
"gene_names_uniprotkb": "BAG2",
"gene_names_refseq": "BAG-2; BAG2; dJ417I1.2",
"protein_names_uniprotkb": "BAG family molecular chaperone regulator 2; BAG-2; Bcl-2-associated athanogene 2",
"protein_names_refseq": "BAG family molecular chaperone regulator 2; BCL2 associated athanogene 2; bcl-2-associated athanogene 2; dJ417I1.2 (BAG-family molecular chaperone regulator 2)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9532); (R-HSA-3371453); (R-HSA-9918487)",
"pathway_count": 3,
"publication_count": 90,
"publication_id_list": "10954706;11230166;11747420;12853476;12917326;12974469;15271996;15364926;15802566;1586970;16278218;1754405;18235501;18235502;18550409;18691976;18991276;19229036;19651622;19914676;20068231;22465953;22541429;22735644;22940245;23186163;23301498;23349863;23481700;24318877;24366607;24681825;25418920;25576301;26735137;26992070;28228285;28510447;28649982;28904123;29117567;29242379;29393594;29493099;29786170;30315122;30429286;30484775;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32890404;32938616;32983136;33298915;33465208;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34405274;34509645;34696522;34725712;35051231;35083852;35561310;35585045;35612780;36284347;36593950;37217939;38177122;38236773;38665916;40596516;7585962;8721986;8946918;9305631;9873016;9920933",
"class_list": "",
"function": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]., [RefSeq]; BAG2 drives chemoresistance of breast cancer by exacerbating mutant p53 aggregate. Publication Status: Online-Only, [RefSeq, PubMed]; BAG2 prevents Tau hyperphosphorylation and increases p62/SQSTM1 in cell models of neurodegeneration., [RefSeq, PubMed]; BAG2 was directly phosphorylated at serine 20 in vitro by MAPKAPK2 and MAPKAP2 is also required for phosphorylation of BAG2 in vivo., [RefSeq, PubMed]; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016)., [UniProtKB, PubMed, PubMed]; Recruitment of BAG2 to DNAJ-PKAc scaffolds promotes cell survival and resistance to drug-induced apoptosis in fibrolamellar carcinoma., [RefSeq, PubMed]",
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"reported_phosphosites": 10,
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"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "B4DXE2;Q08AS9;Q6FID0",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0051087 protein-folding chaperone binding;GO:0031072 heat shock protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0044325 transmembrane transporter binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0030424 axon;GO:0030425 dendrite;GO:0101031 protein folding chaperone complex;GO:1901588 dendritic microtubule",
"go_biological_process": "GO:0010954 positive regulation of protein processing;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0031397 negative regulation of protein ubiquitination;GO:0019538 protein metabolic process",
"synthesized_glycan_count": 0,
"hit_score": 9.3,
"record_id": "O95816-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P27037-1",
"uniprot_id": [
{
"id": "AVR2A_HUMAN",
"url": "https://www.uniprot.org/uniprot/P27037",
"type": "external"
}
],
"mass": 57848.0,
"length": 513,
"protein_name": "Activin receptor type-2A",
"gene_name": "ACVR2A",
"organism": "Human",
"refseq_name": "activin receptor type-2A isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001265508",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265508",
"type": "external"
}
],
"gene_names_uniprotkb": "ACVR2A; ACVR2",
"gene_names_refseq": "ACTRII; ACVR2A; ACVR2",
"protein_names_uniprotkb": "Activin receptor type-2A; 2.7.11.30; ACTR-IIA; ACTRIIA; Activin receptor type IIA",
"protein_names_refseq": "activin A receptor, type IIA; activin receptor type-2A isoform 1 precursor; activin receptor type-2A",
"tax_id": 9606,
"disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); Marfan syndrome (Disease Ontology:DOID:14323); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); Lynch syndrome (Disease Ontology:DOID:3883); Weissenbacher-Zweymuller syndrome (Disease Ontology:DOID:4258); cocaine dependence (Disease Ontology:DOID:9975)",
"pathway": " (hsa:92); (R-HSA-1181150); (R-HSA-1433617); (R-HSA-1502540); (R-HSA-201451); (R-HSA-9839406)",
"pathway_count": 6,
"publication_count": 96,
"publication_id_list": "10.1101/2023.09.13.557529;10067895;10458166;10473623;10587654;10652306;10712517;10746731;10822381;10934479;11016919;11024047;11117535;11121043;11158580;11278251;11294908;11389842;11485994;11509558;11571290;11714695;11779503;11779505;12063393;12151385;12519765;12592392;12667445;12821673;12857866;1311955;1314589;14978253;15062104;15087470;15123686;15150278;15350224;15485907;15531507;16140969;16260601;16672363;17029022;17068149;17272273;17311849;17344846;17356069;17906079;17911401;18166170;18951876;19114992;19615748;20694664;21248752;21356369;21383881;21532621;21791611;23481700;25368322;25603319;28228285;29242379;31844290;31937595;32938616;33141586;33420656;33936100;33968037;34932366;35051231;35580925;37378449;39107843;7644468;7791754;8119126;8196624;8622651;8653785;8721982;8878477;8893010;9032295;9136927;9288972;9311995;9436979;9459292;9670020;9702198",
"class_list": "",
"function": "Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2., [RefSeq, PubMed]; Activin a Receptor Type 2A Mutation Affects the Tumor Biology of Microsatellite Instability-High Gastric Cancer., [RefSeq, PubMed]; Circular RNA ACVR2A promotes the progression of hepatocellular carcinoma through mir-511-5p targeting PI3K-Akt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A (PubMed:17911401, PubMed:10652306). Mediates induction of adipogenesis by GDF6 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]., [RefSeq]",
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"reported_mutagensis": 0,
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"reported_snv": 9,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 2,
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"glyco_site_count": 2,
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"secondary_ac_list": "B2RAB8;B4DWQ2;D3DP85;Q53TH4;Q6NWV2;Q92474",
"ec_number_list": [
{
"id": "2.7.11.30",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30",
"type": "external"
},
{
"id": "2.3.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
"type": "external"
}
],
"go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0015026 coreceptor activity;GO:0019838 growth factor binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0048179 activin receptor complex",
"go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071363 cellular response to growth factor stimulus;GO:0030509 BMP signaling pathway;GO:0030501 positive regulation of bone mineralization",
"synthesized_glycan_count": 0,
"hit_score": 10.1,
"record_id": "P27037-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P34820-1",
"uniprot_id": [
{
"id": "BMP8B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P34820",
"type": "external"
}
],
"mass": 44768.0,
"length": 402,
"protein_name": "Bone morphogenetic protein 8B",
"gene_name": "BMP8B",
"organism": "Human",
"refseq_name": "bone morphogenetic protein 8B preproprotein",
"refseq_ac": [
{
"id": "NP_001711",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001711",
"type": "external"
}
],
"gene_names_uniprotkb": "BMP8B; BMP8",
"gene_names_refseq": "BMP8B; BMP8; OP2",
"protein_names_uniprotkb": "Bone morphogenetic protein 8B; BMP-8B; BMP-8; OP-2; Osteogenic protein 2",
"protein_names_refseq": "bone morphogenetic protein 8 (osteogenic protein 2); bone morphogenetic protein 8B preproprotein; osteogenic protein 2",
"tax_id": 9606,
"disease": "diabetes mellitus (Disease Ontology:DOID:9351); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:656)",
"pathway_count": 1,
"publication_count": 18,
"publication_id_list": "10.1101/2023.09.13.557529;1460021;26992070;27920218;29632046;29789417;32350084;32387766;32694734;33968037;34489410;34509645;34680872;38127951;38253038;38819709;39894887;9070944",
"class_list": "",
"function": "BMP8 and activated brown adipose tissue in human newborns. Publication Status: Online-Only, [RefSeq, PubMed]; Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis. GeneRIF: BMP8B is upregulated in human NASH in hepatocytes and HSC. The absence of BMP8B prevents HSC activation, reduces inflammation and affects the wound-healing responses, thereby limiting NASH progression., [RefSeq, PubMed]; Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH). Publication Status: Online-Only, [RefSeq, PubMed]; Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity)., [UniProtKB]; P200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Reports on the mouse homolog of this gene., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]., [RefSeq]",
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"secondary_ac_list": "E7EMY8;Q32NE5;Q53ZM7;Q9NUF0",
"ec_number_list": [],
"go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0030154 cell differentiation;GO:0001501 skeletal system development;GO:0030509 BMP signaling pathway;GO:0001503 ossification;GO:0045596 negative regulation of cell differentiation",
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},
{
"uniprot_canonical_ac": "P54687-1",
"uniprot_id": [
{
"id": "BCAT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P54687",
"type": "external"
}
],
"mass": 42966.0,
"length": 386,
"protein_name": "Branched-chain-amino-acid aminotransferase, cytosolic",
"gene_name": "BCAT1",
"organism": "Human",
"refseq_name": "branched-chain-amino-acid aminotransferase, cytosolic isoform 2",
"refseq_ac": [
{
"id": "NP_001171562",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171562",
"type": "external"
}
],
"gene_names_uniprotkb": "BCAT1; BCT1; ECA39",
"gene_names_refseq": "BCAT1; BCATC; BCT1; ECA39; MECA39; PNAS121; PP18",
"protein_names_uniprotkb": "Branched-chain-amino-acid aminotransferase, cytosolic; 2.6.1.42; BCAT(c)",
"protein_names_refseq": "branched chain amino-acid transaminase 1, cytosolic; branched chain aminotransferase 1, cytosolic; branched-chain-amino-acid aminotransferase, cytosolic isoform 2; placental protein 18",
"tax_id": 9606,
"disease": "amino acid metabolic disorder (Disease Ontology:DOID:9252)",
"pathway": " (hsa:586); (R-HSA-70895)",
"pathway_count": 2,
"publication_count": 110,
"publication_id_list": "10832746;10947204;11013134;11181649;11237011;11264579;11406611;11738050;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;16143519;17371050;22291014;22544926;22956686;23301498;23481700;23485643;24366607;24449431;24715725;25576301;25810538;26154972;26251176;26992070;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29093164;29242379;29314611;29317506;29393594;29437277;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30573663;3082934;31092671;31154438;31217245;31222486;31435015;31530632;31844290;31848261;31937595;31998317;32161166;32350084;32357974;32502341;32897882;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34211107;34357683;34405274;34561969;34725712;35051231;35154160;35251023;35561310;35580925;3597357;36241641;36284347;38309289;38340163;38369471;38621458;38665916;39085353;6928646;7356336;8692959;8824301;9165094;9214289;9889013",
"class_list": "",
"function": "Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine., [UniProtKB, UniProtKB]; Cross-talk between BCKDK-mediated phosphorylation and STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM progression., [RefSeq, PubMed]; High expression of BCAT1 sensitizes AML cells to PARP inhibitor by suppressing DNA damage response., [RefSeq, PubMed]; HuR promotes castration-resistant prostate cancer progression by altering ERK5 activation via posttranscriptional regulation of BCAT1. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of BCAT1-mediated cytosolic leucine metabolism regulates Th17 responses via the mTORC1-HIF1alpha pathway., [RefSeq, PubMed]; Integrated single-cell and bulk characterization of branched chain amino acid metabolism-related key gene BCAT1 and association with prognosis and immunogenicity of clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]., [RefSeq]",
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"secondary_ac_list": "B3KY27;B7Z2M5;B7Z5L0;F5H5E4;Q68DQ7;Q96MY9",
"ec_number_list": [
{
"id": "2.6.1.42",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.42",
"type": "external"
}
],
"go_molecular_function": "GO:0004084 branched-chain-amino-acid transaminase activity;GO:0052654 L-leucine-2-oxoglutarate transaminase activity;GO:0052655 L-valine-2-oxoglutarate transaminase activity;GO:0052656 L-isoleucine-2-oxoglutarate transaminase activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol",
"go_biological_process": "GO:0006629 lipid metabolic process;GO:0000082 G1/S transition of mitotic cell cycle;GO:0009082 branched-chain amino acid biosynthetic process;GO:0009098 L-leucine biosynthetic process;GO:0009099 L-valine biosynthetic process",
"synthesized_glycan_count": 0,
"hit_score": 11.3,
"record_id": "P54687-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P80723-1",
"uniprot_id": [
{
"id": "BASP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P80723",
"type": "external"
}
],
"mass": 22693.0,
"length": 227,
"protein_name": "Brain acid soluble protein 1",
"gene_name": "BASP1",
"organism": "Human",
"refseq_name": "brain acid soluble protein 1",
"refseq_ac": [
{
"id": "NP_001258535",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258535",
"type": "external"
}
],
"gene_names_uniprotkb": "BASP1; NAP22",
"gene_names_refseq": "BASP1; CAP-23; CAP23; NAP-22; NAP22",
"protein_names_uniprotkb": "Brain acid soluble protein 1; 22 kDa neuronal tissue-enriched acidic protein; Neuronal axonal membrane protein NAP-22",
"protein_names_refseq": "22 kDa neuronal tissue-enriched acidic protein; brain acid soluble protein 1; brain acid-soluble protein 1; neuronal axonal membrane protein NAP-22; neuronal tissue-enriched acidic protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10409); (R-HSA-9035034)",
"pathway_count": 2,
"publication_count": 77,
"publication_id_list": "11237011;14701728;16777452;17081983;17322306;17765681;17924679;18212344;18268500;18491316;18510355;18578522;18669648;18767875;19413330;19651622;19664994;19664995;20058876;20068231;20233848;21119010;23096567;23186163;24275569;25114211;25255805;25502872;25505266;25576301;25668492;27278019;27452731;27481945;28218747;28657654;28832583;29242379;29393594;29508533;29557506;29786170;30429286;30833945;31154438;31217245;31611695;31844290;31871319;32350084;32938616;33043033;33123756;33141586;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34433824;34846842;35318648;35580925;36215666;36241641;36284347;36756695;36961398;37243901;37337843;37505219;40596516;9310187;9749536",
"class_list": "",
"function": "BASP1 can confer WT1 cosuppressor activity in transfection assays, and elimination of endogenous BASP1 expression augments transcriptional activation by WT1., [RefSeq, PubMed]; BASP1 expression is associated with poor prognosis and is correlated with immune infiltration in gastric cancer., [RefSeq, PubMed]; BASP1 promotes high glucose-induced endothelial apoptosis in diabetes via activation of EGFR signaling., [RefSeq, PubMed]; Circ_0008285 silencing suppresses angiotensin II-induced vascular smooth muscle cell apoptosis in thoracic aortic aneurysm via miR-150-5p/BASP1 axis., [RefSeq, PubMed]; Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-kappaB/MGMT Axis., [RefSeq, PubMed]; Myeloid-specific ablation of Basp1 ameliorates diet-induced NASH in mice by attenuating pro-inflammatory signaling., [RefSeq, PubMed]; Proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophrenia and supports the view of a neuritic and synaptic dysfunction in the neuropathology, [RefSeq, PubMed]; This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]., [RefSeq]",
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"reported_snv": 12,
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"secondary_ac_list": "B4DJA8;D3DTD5;O43596;Q5U0S0;Q9BWA5",
"ec_number_list": [],
"go_molecular_function": "GO:0005516 calmodulin binding;GO:0019904 protein domain specific binding;GO:0003714 transcription corepressor activity;GO:0000976 transcription cis-regulatory region binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016607 nuclear speck",
"go_biological_process": "GO:0051260 protein homooligomerization;GO:0021762 substantia nigra development;GO:0045892 negative regulation of DNA-templated transcription;GO:0060421 positive regulation of heart growth;GO:0097435 supramolecular fiber organization",
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},
{
"uniprot_canonical_ac": "Q13873-1",
"uniprot_id": [
{
"id": "BMPR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13873",
"type": "external"
}
],
"mass": 115201.0,
"length": 1038,
"protein_name": "Bone morphogenetic protein receptor type-2",
"gene_name": "BMPR2",
"organism": "Human",
"refseq_name": "bone morphogenetic protein receptor type-2 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001195",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001195",
"type": "external"
}
],
"gene_names_uniprotkb": "BMPR2; PPH1",
"gene_names_refseq": "BMPR-II; BMPR2; BMPR3; BMR2; BRK-3; POVD1; PPH1; T-ALK",
"protein_names_uniprotkb": "Bone morphogenetic protein receptor type-2; 2.7.11.30; BMP type II receptor; BMP type-2 receptor; BMPR-2; BMPR-II; Bone morphogenetic protein receptor type II",
"protein_names_refseq": "BMP type II receptor; BMP type-2 receptor; bone morphogenetic protein receptor type II; bone morphogenetic protein receptor type-2 isoform 1 precursor; bone morphogenetic protein receptor, type II (serine/threonine kinase); type II activin receptor-like kinase; type II receptor for bone morphogenetic protein-4",
"tax_id": 9606,
"disease": "pulmonary venoocclusive disease 1 (Disease Ontology:DOID:0081268); primary pulmonary hypertension (Disease Ontology:DOID:14557); heart septal defect (Disease Ontology:DOID:1681); asthma (Disease Ontology:DOID:2841); pulmonary venoocclusive disease (Disease Ontology:DOID:5453); pulmonary hypertension (Disease Ontology:DOID:6432)",
"pathway": " (hsa:659); (R-HSA-201451)",
"pathway_count": 2,
"publication_count": 114,
"publication_id_list": "10.1101/2023.09.13.557529;10458166;10587654;10712517;10903931;10973254;11015450;11016919;11115378;11121043;11158580;11278251;11509558;11571290;11714695;11779505;12045205;12151385;12358323;12446270;12519765;12592392;12821673;12857866;15965979;16429395;16672363;17029022;17068149;17094948;17311849;17322306;17344846;17356069;18691976;19369195;21791611;21976273;24018044;24190977;24936649;25187962;25645385;25880248;27600516;27846572;27862975;28228285;28467828;28507310;28649982;28657654;28832583;28834231;28904123;29212066;29242379;29314611;29331515;29508533;29557506;29632711;29671580;29741879;29786170;29789417;30192525;30429286;30459171;30626607;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33308444;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36284347;37074911;37938771;38791441;39125626;7644468;7673243;7791754;7890683;8119126;8653785;8893010;9136927;9436979",
"class_list": "",
"function": "BMPR2 Loss Activates AKT by Disrupting DLL4/NOTCH1 and PPARgamma Signaling in Pulmonary Arterial Hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Can also mediate signaling through the activation of the p38MAPK cascade (PubMed:12045205). Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. Promotes signaling also by binding to activin A/INHBA (PubMed:24018044)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]., [RefSeq]",
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"secondary_ac_list": "Q13161;Q16569;Q4ZG08;Q53SA5;Q585T8",
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{
"id": "2.7.11.30",
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"type": "external"
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{
"id": "2.3.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
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],
"go_molecular_function": "GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0046872 metal ion binding;GO:0045296 cadherin binding;GO:0005024 transforming growth factor beta receptor activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0005912 adherens junction;GO:0009986 cell surface",
"go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048286 lung alveolus development",
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{
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{
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"url": "https://www.uniprot.org/uniprot/Q14032",
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],
"mass": 46299.0,
"length": 418,
"protein_name": "Bile acid-CoA:amino acid N-acyltransferase",
"gene_name": "BAAT",
"organism": "Human",
"refseq_name": "bile acid-CoA:amino acid N-acyltransferase",
"refseq_ac": [
{
"id": "NP_001121082",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121082",
"type": "external"
}
],
"gene_names_uniprotkb": "BAAT",
"gene_names_refseq": "BAAT; BACAT; BACD1; BAT; FHCA3; HCHO",
"protein_names_uniprotkb": "Bile acid-CoA:amino acid N-acyltransferase; 2.3.1.65; 3.1.2.27; 3.1.2.2; BACAT; BAT; Bile acid-CoA thioesterase; Choloyl-CoA hydrolase; Glycine N-choloyltransferase; Long-chain fatty-acyl-CoA hydrolase",
"protein_names_refseq": "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase); bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase); bile acid-CoA thioesterase; bile acid-CoA:amino acid N-acyltransferase; choloyl-CoA hydrolase; long-chain fatty-acyl-CoA hydrolase",
"tax_id": 9606,
"disease": "disease of metabolism (Disease Ontology:DOID:0014667); familial hypercholanemia 3 (Disease Ontology:DOID:0061180)",
"pathway": " (hsa:570); (R-HSA-159418); (R-HSA-193368); (R-HSA-9033241)",
"pathway_count": 4,
"publication_count": 127,
"publication_id_list": "10022913;10051404;10092594;10334992;10334993;10358072;10479480;10562279;10601278;10655068;10673331;10749848;10884298;10987286;11060344;11067870;11101887;11158055;11159893;11237011;11387316;11546814;11673457;11781871;11870371;11931631;11980911;12220224;12239217;12393883;12404239;12404240;12456682;12486725;12559034;12578380;12663868;12679481;12704183;12704386;12717447;12810727;12815072;12885776;13416382;1400444;14699511;15545321;15858711;16317684;16541101;16854980;16908160;17007944;1708392;17650074;17726030;18359941;18712838;19197237;19208625;19584060;19632994;20178365;2019602;2037576;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23018617;23337244;23415802;23481700;2384150;23963456;24235149;24865970;25016021;25538232;25854684;26086376;26138649;26220973;26344566;26992070;27155186;27230263;27397612;27597759;28521612;28611990;28765278;28787099;29557506;31154438;31844290;31848261;34932366;35051231;35580925;7077161;7508385;7557095;7588781;7649182;7719337;7790377;8034703;8132774;8387517;8824437;8858165;8902629;8943006;8991089;9090381;9090382;9090383;9539740;9653144;9660774;9668159;9837948",
"class_list": "",
"function": "BAAT polymorphisms might not be associated with anti-tuberculosis drug-induced hepatotoxicity in the Chinese population, [RefSeq, PubMed]; Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12239217, PubMed:12810727, PubMed:8034703). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; These results indicate that even small changes in the carboxy terminus of BAAT can have significant effects on activity and substrate specificity, [RefSeq, PubMed]",
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"secondary_ac_list": "Q3B7W9;Q96L31",
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{
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{
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},
{
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{
"id": "AVL9_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NBF6",
"type": "external"
}
],
"mass": 71947.0,
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"protein_name": "Late secretory pathway protein AVL9 homolog",
"gene_name": "AVL9",
"organism": "Human",
"refseq_name": "late secretory pathway protein AVL9 homolog isoform 1",
"refseq_ac": [
{
"id": "NP_055875",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055875",
"type": "external"
}
],
"gene_names_uniprotkb": "AVL9; KIAA0241",
"gene_names_refseq": "AVL9; KIAA0241",
"protein_names_uniprotkb": "Late secretory pathway protein AVL9 homolog",
"protein_names_refseq": "AVL9 homolog (S. cerevisiase); late secretory pathway protein AVL9 homolog isoform 1; late secretory pathway protein AVL9 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23080)",
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"publication_id_list": "11237011;18669648;22595670;23481700;24129315;24715725;25645385;25880248;26375851;26992070;27600516;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29786170;29789417;30315122;30524438;30779550;31154438;31217245;31373491;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32678693;32897882;32938616;33141586;33537174;33592498;33691108;33880595;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35132862;35251023;35318648;35561310;35580925;36010968;36241641;37938771;40307207",
"class_list": "",
"function": "Clinical significance and functions of miR-203a-3p/AVL9 axis in human non-small-cell lung cancer., [RefSeq, PubMed]; Functions in cell migration., [UniProtKB, PubMed]; Hsa_circ_0058357 acts as a ceRNA to promote nonsmall cell lung cancer progression via the hsamiR243p/AVL9 axis., [RefSeq, PubMed]",
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},
{
"uniprot_canonical_ac": "Q8NFU0-1",
"uniprot_id": [
{
"id": "BEST4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NFU0",
"type": "external"
}
],
"mass": 53497.0,
"length": 473,
"protein_name": "Bestrophin-4",
"gene_name": "BEST4",
"organism": "Human",
"refseq_name": "bestrophin-4",
"refseq_ac": [
{
"id": "NP_695006",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_695006",
"type": "external"
}
],
"gene_names_uniprotkb": "BEST4; VMD2L2",
"gene_names_refseq": "BEST4; VMD2L2",
"protein_names_uniprotkb": "Bestrophin-4; Vitelliform macular dystrophy 2-like protein 2",
"protein_names_refseq": "bestrophin-4; vitelliform macular dystrophy 2-like 2; vitelliform macular dystrophy 2-like protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:266675); (R-HSA-2672351)",
"pathway_count": 2,
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"class_list": "",
"function": "BEST2 and BEST4 could be added to the lineage-specific genes of humans intestinal epithelial cells Publication Status: Online-Only, [RefSeq, PubMed]; Forms calcium-sensitive chloride channels. Permeable to bicarbonate., [UniProtKB, UniProtKB]; Human Best4 chloride channels on excised membrane patches can be activated by free calcium (Ca2+) on the cytoplasmic side., [RefSeq, PubMed]; Identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains, [RefSeq, PubMed]; Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by Calcium (Ca2+) (PubMed:12907679, PubMed:18400985). Mediates the movement of hydrogencarbonate and chloride (PubMed:12907679, PubMed:18400985)., [UniProtKB, PubMed, PubMed]; Oncogenic potential of BEST4 in colorectal cancer via activation of PI3K/Akt signaling., [RefSeq, PubMed]; Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells., [RefSeq, PubMed]; This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
},
{
"id": "1.8.5.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1",
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},
{
"id": "1.11.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-",
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},
{
"id": "5.6.1.6",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6",
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}
],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity;GO:0160133 bicarbonate channel activity",
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},
{
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{
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],
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"protein_name": "Ribosome biogenesis protein BRX1 homolog",
"gene_name": "BRIX1",
"organism": "Human",
"refseq_name": "ribosome biogenesis protein BRX1 homolog",
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{
"id": "NP_060791",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060791",
"type": "external"
}
],
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"function": "BRIX1 promotes ribosome synthesis and enhances glycolysis by selected translation of GLUT1 in colorectal cancer., [RefSeq, PubMed]; Required for biogenesis of the 60S ribosomal subunit., [UniProtKB]",
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},
{
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],
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060932",
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}
],
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"protein_names_refseq": "BRICK1, SCAR/WAVE actin nucleating complex subunit; haematopoietic stem/progenitor cell protein 300; protein BRICK1",
"tax_id": 9606,
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"function": "Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity)., [UniProtKB, UniProtKB, PubMed]",
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"go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030027 lamellipodium;GO:0070062 extracellular exosome;GO:0031209 SCAR complex",
"go_biological_process": "GO:0008064 regulation of actin polymerization or depolymerization;GO:0007015 actin filament organization;GO:0016601 Rac protein signal transduction;GO:0031334 positive regulation of protein-containing complex assembly;GO:2000601 positive regulation of Arp2/3 complex-mediated actin nucleation",
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},
{
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{
"id": "BAALC_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WXS3",
"type": "external"
}
],
"mass": 15551.0,
"length": 145,
"protein_name": "Brain and acute leukemia cytoplasmic protein",
"gene_name": "BAALC",
"organism": "Human",
"refseq_name": "brain and acute leukemia cytoplasmic protein isoform 2",
"refseq_ac": [
{
"id": "NP_001019543",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019543",
"type": "external"
}
],
"gene_names_uniprotkb": "BAALC",
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"protein_names_uniprotkb": "Brain and acute leukemia cytoplasmic protein",
"protein_names_refseq": "BAALC, MAP3K1 and KLF4 binding; BAALC, MEKK1 and KLF4 binding; brain and acute leukemia cytoplasmic protein isoform 2; brain and acute leukemia cytoplasmic protein; brain and acute leukemia, cytoplasmic",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79870)",
"pathway_count": 1,
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"publication_id_list": "11707601;15604894;15749074;17646667;18378853;28657654;29557506;31154438;31844290;31848261;32862286;33242229;33453340;33894142;35429905",
"class_list": "",
"function": "Allogeneic stem cell transplantation mitigates the adverse prognostic impact of high diagnostic BAALC and MN1 expression in AML., [RefSeq, PubMed]; BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults., [RefSeq, PubMed]; High BAALC expression is an independent adverse prognostic factor and is associated with a specific gene-expression profile, [RefSeq, PubMed]; High transcript levels occur in leukemic blasts from some patients with acute myeloid leukemia., [RefSeq, PubMed]; IPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia. Erratum:[Cell Stem Cell. 2023 Sep 7;30(9):1282. doi: 10.1016/j.stem.2023.07.015. PMID: 37683606], [RefSeq, PubMed]; Low expression of both ERG and BAALC identifies T-ALL patients with a distinctly favorable long-term outcome., [RefSeq, PubMed]; May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A., [UniProtKB, UniProtKB]; Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia., [RefSeq, PubMed]; Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype., [RefSeq, PubMed]; The BAALC gene, located on chromosome 8q22.3, encodes a protein with no homology to any known proteins or functional domains. Review article, [RefSeq, PubMed]; This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 14",
"gene_name": "ADAMTS14",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein",
"refseq_ac": [
{
"id": "NP_542453",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542453",
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],
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"gene_names_refseq": "ADAMTS14",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 14; 3.4.24.-; ADAM-TS 14; ADAM-TS14; ADAMTS-14",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 14; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14",
"tax_id": 9606,
"disease": "primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); osteoarthritis (Disease Ontology:DOID:8398)",
"pathway": " (hsa:140766); (R-HSA-1650814); (R-HSA-5083635); (R-HSA-5173214)",
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"publication_id_list": "10.1038/emboj.2013.79;10479448;10934207;11067851;11741898;11779638;11867212;12473679;12475640;12646579;1323838;14500733;15044469;1577494;15913795;16464858;16591531;18487197;18720094;19075007;19693541;19796186;20470363;21878990;21967573;22588082;23584533;23889335;2543975;25544610;25863161;29331515;29557506;31152061;31217245;31611695;3173483;32350084;32938616;33592498;35051231;35251023;35572505;36010968;36658113;37550675;37725302;37929635;3905801;3938630;39894887;6307276;6809411;710450;9054364;9545296;9560306;9582318",
"class_list": "",
"function": "Association between ADAMTS14_rs4747096 gene polymorphism and bone mineral density of Chinese Han population residing in fluorine exposed areas in ShanXi Province, China., [RefSeq, PubMed]; Correlation investigation between a single nucleotide polymorphism in ADAMTS14 (rs4747096) and osteoarthritis: a meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that ADAMTS2, 3 and 14 cleave the amino-propeptide of fibrillar collagens. [review] Review article, [RefSeq, PubMed]; Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form (PubMed:31152061)., [UniProtKB, PubMed, PubMed]; Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene. Publication Status: Online-Only, [RefSeq, PubMed]; Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function., [RefSeq, PubMed]; Survival Prognosis, Tumor Immune Landscape, and Immune Responses of ADAMTS14 in Clear Cell Renal Cell Carcinoma and Its Potential Mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]., [RefSeq]; This study suggest potentially important role for the ADAMTS14 gene in predisposition to MS. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
"type": "external"
},
{
"id": "3.4.24.82",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82",
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19",
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{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
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{
"id": "3.4.24.87",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
"type": "external"
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],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix",
"go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0030574 collagen catabolic process",
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{
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{
"id": "BSND_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WZ55",
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],
"mass": 35197.0,
"length": 320,
"protein_name": "Barttin",
"gene_name": "BSND",
"organism": "Human",
"refseq_name": "barttin",
"refseq_ac": [
{
"id": "NP_476517",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_476517",
"type": "external"
}
],
"gene_names_uniprotkb": "BSND; BART",
"gene_names_refseq": "BART; BSND; DFNB73",
"protein_names_uniprotkb": "Barttin",
"protein_names_refseq": "Bartter syndrome, infantile, with sensorineural deafness (Barttin); barttin CLCNK type accessory beta subunit; barttin CLCNK-type chloride channel accessory beta subunit; barttin; deafness, autosomal recessive 73",
"tax_id": 9606,
"disease": "Bartter disease type 4a (Disease Ontology:DOID:0110145); sensorineural hearing loss (Disease Ontology:DOID:10003); Bartter disease (Disease Ontology:DOID:445)",
"pathway": " (hsa:7809); (R-HSA-2672351)",
"pathway_count": 2,
"publication_count": 98,
"publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12111250;12393854;12574213;12761627;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16328537;16773427;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;18776122;19153159;19307298;19380724;19387438;19620632;19646679;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26013830;26359375;26562072;28071645;28154142;28470573;28790369;29674316;32184353;35580925;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806",
"class_list": "",
"function": "DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels., [RefSeq, PubMed]; Increasing expression of barttin over that of ClC-K partially recovered this insufficiency, indicating that N-terminal modifications of barttin alter both binding affinities and gating properties, [RefSeq, PubMed]; Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830). Most likely acts as a chaperone that allosterically regulates proper sorting of CLCNKA:BSND and CLCNKB:BSND channels at the basolateral plasma membrane domain and functional switch to ion conducting state. Mediates constitutive opening of channel common gates (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma, [RefSeq, PubMed]; This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0017081 chloride channel regulator activity;GO:0005254 chloride channel activity",
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},
{
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{
"id": "AZIN2_HUMAN",
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],
"mass": 49980.0,
"length": 460,
"protein_name": "Antizyme inhibitor 2",
"gene_name": "AZIN2",
"organism": "Human",
"refseq_name": "antizyme inhibitor 2 isoform 1",
"refseq_ac": [
{
"id": "NP_001280491",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280491",
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],
"gene_names_uniprotkb": "AZIN2; ADC; KIAA1945; ODCP",
"gene_names_refseq": "ADC; AZIB1; AZIN2; ODC-p; ODC1L; ODCp",
"protein_names_uniprotkb": "Antizyme inhibitor 2; ADC; ARGDC; Arginine decarboxylase; AzI2; ODC-like protein; ODC-p; Ornithine decarboxylase-like protein; ornithine decarboxylase paralog",
"protein_names_refseq": "ODC antizyme inhibitor-2; ODC-like protein; ODC-paralogue; antizyme inhibitor 2 isoform 1; arginine decarboxylase; ornithine decarboxylase like; ornithine decarboxylase-like protein; ornithine decarboxylase-paralog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:113451); (R-HSA-351143)",
"pathway_count": 2,
"publication_count": 22,
"publication_id_list": "11237011;11587527;11804860;11914032;14738999;17900240;19718454;19756694;19832840;19956990;20188728;29242379;31844290;32387766;32488085;32502341;32938616;33586680;33968037;34046926;35580925;37899497",
"class_list": "",
"function": "AZIN2 expression appears to be restricted to brain and testis and it is a labile protein degraded by a ubiquitin-dependent mechanism. Review article, [RefSeq, PubMed]; Aberrant AZIN2 and polyamine metabolism precipitates tau neuropathology., [RefSeq, PubMed]; Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking (PubMed:20188728)., [UniProtKB, PubMed, PubMed]; Antizyme inhibitor 2 (AZIN2) associates with better prognosis of head and neck minor salivary gland adenoid cystic carcinoma., [RefSeq, PubMed]; Enhanced anti-tumor activity of arginine decarboxylase through the incorporation of aromatic amino acids at the multimer-forming interface., [RefSeq, PubMed]; The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0030424 axon",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0043085 positive regulation of catalytic activity;GO:0042177 negative regulation of protein catabolic process;GO:0033387 putrescine biosynthetic process from arginine, via ornithine;GO:1902269 positive regulation of polyamine transmembrane transport",
"synthesized_glycan_count": 0,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96KV6-1",
"uniprot_id": [
{
"id": "BT2A3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96KV6",
"type": "external"
}
],
"mass": 65713.0,
"length": 586,
"protein_name": "Putative butyrophilin subfamily 2 member A3",
"gene_name": "BTN2A3P",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
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"protein_names_uniprotkb": "Putative butyrophilin subfamily 2 member A3",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "",
"pathway": "",
"pathway_count": 0,
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9BRD0-1",
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{
"id": "BUD13_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BRD0",
"type": "external"
}
],
"mass": 70521.0,
"length": 619,
"protein_name": "BUD13 homolog",
"gene_name": "BUD13",
"organism": "Human",
"refseq_name": "BUD13 homolog isoform 2",
"refseq_ac": [
{
"id": "NP_001153208",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153208",
"type": "external"
}
],
"gene_names_uniprotkb": "BUD13",
"gene_names_refseq": "ACHPS; BUD13; Cwc26; fSAP71",
"protein_names_uniprotkb": "BUD13 homolog",
"protein_names_refseq": "BUD13 homolog isoform 2; BUD13 homolog; functional spliceosome-associated protein 71",
"tax_id": 9606,
"disease": "achalasia-progeroid syndrome (MONDO:MONDO:0700300)",
"pathway": " (hsa:84811); (R-HSA-72163)",
"pathway_count": 2,
"publication_count": 127,
"publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15302935;15592455;16314458;16809785;16964243;17081983;17095540;17332742;17606899;18212344;18220336;18322460;18452278;18593880;18669648;18767875;19007248;19103666;19165350;19413330;19536130;19651622;19656773;19664994;19664995;19690332;19691289;20058876;20068231;20166139;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22544926;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25218447;25555158;2558966;26375851;26385511;26420826;26969736;27377154;27459055;27683217;28062851;28076346;28502770;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29493099;29557506;2963332;29786170;30315277;30410026;30429286;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32357974;32494006;32938616;33243851;33446560;33509932;33717175;33968037;33986338;34301950;34822310;35051231;35385551;35580925;35670808;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529",
"class_list": "",
"function": "Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features., [RefSeq, PubMed]; Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003723 RNA binding",
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"go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:1903241 U2-type prespliceosome assembly",
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"hit_score": 12.8,
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},
{
"uniprot_canonical_ac": "Q9BZE3-1",
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{
"id": "BARH1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BZE3",
"type": "external"
}
],
"mass": 35074.0,
"length": 327,
"protein_name": "BarH-like 1 homeobox protein",
"gene_name": "BARHL1",
"organism": "Human",
"refseq_name": "barH-like 1 homeobox protein",
"refseq_ac": [
{
"id": "NP_064448",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_064448",
"type": "external"
}
],
"gene_names_uniprotkb": "BARHL1; FKSG31",
"gene_names_refseq": "BARHL1",
"protein_names_uniprotkb": "BarH-like 1 homeobox protein",
"protein_names_refseq": "barH-like 1 homeobox protein",
"tax_id": 9606,
"disease": "triple-receptor negative breast cancer (Disease Ontology:DOID:0060081); Alzheimer's disease (Disease Ontology:DOID:10652); high grade glioma (Disease Ontology:DOID:3070)",
"pathway": " (hsa:56751)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "10814725;15487006;21602885;24715725;29557506;30379171;31154438;38253038;38358459",
"class_list": "",
"function": "Expression of Barhl1 decelerates tumor growth both in human and in murine medulloblastomas., [RefSeq, PubMed]; Homeobox Protein BarH-like 1 Promotes Gastric Cancer Progression by Activating Coiled-Coil Domain-Containing Protein 178., [RefSeq, PubMed]",
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"secondary_ac_list": "Q5T6V2;Q9NY88",
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"go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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"record_id": "Q9BZE3-1",
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},
{
"uniprot_canonical_ac": "Q9C0J1-1",
"uniprot_id": [
{
"id": "B3GN4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9C0J1",
"type": "external"
}
],
"mass": 42310.0,
"length": 378,
"protein_name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4",
"gene_name": "B3GNT4",
"organism": "Human",
"refseq_name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 2",
"refseq_ac": [
{
"id": "NP_001317421",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317421",
"type": "external"
}
],
"gene_names_uniprotkb": "B3GNT4; PRO4344",
"gene_names_refseq": "B3GN-T4; B3GNT4; beta3Gn-T4",
"protein_names_uniprotkb": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4; 2.4.1.149; BGnT-4; Beta-1,3-Gn-T4; Beta-1,3-N-acetylglucosaminyltransferase 4; Beta3Gn-T4; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4",
"protein_names_refseq": "BGnT-4; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 2; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4; beta-1,3-Gn-T4; beta-1,3-N-acetylglucosaminyltransferase 4; beta-1,3-N-acetylglucosaminyltransferase bGn-T4",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79369); (R-HSA-2022854); (R-HSA-913709)",
"pathway_count": 3,
"publication_count": 45,
"publication_id_list": "10.1101/2023.09.13.557529;10206952;10330415;10430883;10491328;10504389;10580128;10753916;11030741;11042166;11042394;11237011;11283017;11304796;11588157;11821425;11901181;12218059;12855678;12975309;1329093;15486459;15560372;15620693;17021253;17113861;1714903;18537974;22183981;24643043;32938616;35051231;38034954;7655172;8333853;8611500;8920913;9295285;9394011;9405439;9417100;9435216;9597550;9915862;9988682",
"class_list": "glycogene;glycosyltransferase",
"function": "Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides., [UniProtKB, PubMed]; This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 2,
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"reported_snv": 678,
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"missing_score": 10000,
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"secondary_ac_list": "Q8N5W4;Q8N934;Q8ND21;Q8WWR5;Q8WY02;Q96QH5",
"ec_number_list": [
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "2.4.1.147",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.147",
"type": "external"
},
{
"id": "2.4.1.149",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.149",
"type": "external"
},
{
"id": "2.4.1.206",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.206",
"type": "external"
},
{
"id": "2.4.1.146",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.146",
"type": "external"
}
],
"go_molecular_function": "GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity;GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane",
"go_biological_process": "GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0030311 poly-N-acetyllactosamine biosynthetic process",
"synthesized_glycan_count": 1159,
"hit_score": 5.0,
"record_id": "Q9C0J1-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.001.11000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NUP1-1",
"uniprot_id": [
{
"id": "BL1S4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NUP1",
"type": "external"
}
],
"mass": 23351.0,
"length": 217,
"protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 4",
"gene_name": "BLOC1S4",
"organism": "Human",
"refseq_name": "biogenesis of lysosome-related organelles complex 1 subunit 4",
"refseq_ac": [
{
"id": "NP_060836",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060836",
"type": "external"
}
],
"gene_names_uniprotkb": "BLOC1S4; CNO",
"gene_names_refseq": "BCAS4L; BLOC1S4; BLOS4; CNO",
"protein_names_uniprotkb": "Biogenesis of lysosome-related organelles complex 1 subunit 4; BLOC-1 subunit 4; Protein cappuccino homolog",
"protein_names_refseq": "BLOC-1 subunit 4; biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino; biogenesis of lysosome-related organelles complex 1 subunit 4; protein cappuccino homolog",
"tax_id": 9606,
"disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)",
"pathway": " (hsa:55330); (R-HSA-432722)",
"pathway_count": 2,
"publication_count": 69,
"publication_id_list": "10394364;11590181;11604418;11694590;11994746;15102850;16155256;17116749;17182842;18212344;22203680;22203954;22645359;23186163;23481700;24714562;24715725;25505266;25576301;25645385;25892735;26375851;26728094;26811146;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;31217245;31530632;31844290;31848261;32265295;32357974;32387766;32502341;32938616;32983136;33298915;33537174;33592498;33717175;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35154160;35580925;36010968;36241641;8374173;8524399;8670264",
"class_list": "",
"function": "Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking., [UniProtKB, PubMed]; Melanoma cells depleted of cappuccino protein have increased nuclear localization of cis-diaminedichloroplatinum II, increased nuclear DNA damage by platination, and increased apoptosis, resulting in increased treatment sensitivity., [RefSeq, PubMed]; This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"missing_score": 10000,
"biomarker_type": "",
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"glyco_site_count": 0,
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"secondary_ac_list": "Q6NVY6;Q96G84",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1904115 axon cytoplasm;GO:0031083 BLOC-1 complex",
"go_biological_process": "GO:0031175 neuron projection development;GO:0008089 anterograde axonal transport;GO:0032438 melanosome organization;GO:0048490 anterograde synaptic vesicle transport",
"synthesized_glycan_count": 0,
"hit_score": 7.0,
"record_id": "Q9NUP1-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NY30-1",
"uniprot_id": [
{
"id": "BTG4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NY30",
"type": "external"
}
],
"mass": 25970.0,
"length": 223,
"protein_name": "Protein BTG4",
"gene_name": "BTG4",
"organism": "Human",
"refseq_name": "protein BTG4 isoform 1",
"refseq_ac": [
{
"id": "NP_060059",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060059",
"type": "external"
}
],
"gene_names_uniprotkb": "BTG4; PC3B",
"gene_names_refseq": "APRO3; BTG4; OOMD8; OZEMA8; PC3B",
"protein_names_uniprotkb": "Protein BTG4; BTG family member 4; Protein PC3b",
"protein_names_refseq": "B-cell translocation gene 4; BTG family member 4; protein BTG4 isoform 1; protein BTG4; protein PC3b",
"tax_id": 9606,
"disease": "oocyte maturation defect 8 (MONDO:MONDO:0033564)",
"pathway": " (hsa:54766); (R-HSA-9820841)",
"pathway_count": 2,
"publication_count": 15,
"publication_id_list": "10995567;11237011;15672409;18519671;20309940;25418920;26929215;29393594;29632046;31844290;32093041;32502391;34647228;36471203;39894887",
"class_list": "",
"function": "A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility., [RefSeq, PubMed]; A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility., [RefSeq, PubMed]; Adapter protein that bridges CNOT7, a catalytic subunit of the CCR4-NOT complex, to EIF4E (By similarity). Facilitates maternal mRNAs decay during the maturation of oocytes and in the fertilized egg, and is required for the maternal-zygotic transition (MZT), zygotic cleavage and initiation of embryonic development (PubMed:32502391)., [UniProtKB, PubMed, UniProtKB]; BTG4 could contribute to chronic lymphocytic leykemia pathogenesis following inactivation by haploinsufficiency., [RefSeq, PubMed]; BTG4 is A Novel p53 Target Gene That Inhibits Cell Growth and Induces Apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility., [RefSeq, PubMed]; MiR-34b/c and BTG4 are novel tumor suppressors in colorectal cancer (CRC) and that the miR-34b/c CpG island, which bidirectionally regulates miR-34b/c and BTG4, is a frequent target of epigenetic silencing in CRC, [RefSeq, PubMed]; Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q8NEH7",
"ec_number_list": [],
"go_molecular_function": "GO:0003730 mRNA 3'-UTR binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030182 neuron differentiation;GO:0051726 regulation of cell cycle",
"synthesized_glycan_count": 0,
"hit_score": 1.8,
"record_id": "Q9NY30-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9P281-1",
"uniprot_id": [
{
"id": "BAHC1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P281",
"type": "external"
}
],
"mass": 280016.0,
"length": 2639,
"protein_name": "BAH and coiled-coil domain-containing protein 1",
"gene_name": "BAHCC1",
"organism": "Human",
"refseq_name": "BAH and coiled-coil domain-containing protein 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001278253",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278253",
"type": "external"
}
],
"gene_names_uniprotkb": "BAHCC1; BAHD2; KIAA1447",
"gene_names_refseq": "BAHCC1; BAHD2",
"protein_names_uniprotkb": "BAH and coiled-coil domain-containing protein 1; BAH domain-containing protein 2; Bromo adjacent homology domain-containing protein 2",
"protein_names_refseq": "BAH and coiled-coil domain-containing protein 1 isoform 1; BAH and coiled-coil domain-containing protein 1; BAH domain-containing protein 2; bromo adjacent homology domain-containing protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57597)",
"pathway_count": 1,
"publication_count": 27,
"publication_id_list": "11237011;17525332;19608861;23186163;25645385;26992070;27928163;28832583;28834231;29242379;29557506;29786170;30379171;30429286;30524438;31492838;32157095;32350084;32387766;32897882;33139953;33912179;33968037;34509645;35051231;35251023;35580925",
"class_list": "",
"function": "BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis., [RefSeq, PubMed]; Variants. We identified two candidate homozygous missense variants, R942Q in the tubulin-folding cofactor D (TBCD) gene and H250Q in the bromo-adjacent homology domain and coiled-coil containing 1 (BAHCC1) gene, located on chromosome 17q25.3 with an interval of 1.4 Mbp., [RefSeq, PubMed]",
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"secondary_ac_list": "A0A075B747;Q5U629",
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"go_molecular_function": "GO:0003682 chromatin binding",
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"record_id": "Q9P281-1",
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},
{
"uniprot_canonical_ac": "Q9P2N4-3",
"uniprot_id": [
{
"id": "ATS9_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2N4",
"type": "external"
}
],
"mass": 216491.0,
"length": 1935,
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 9",
"gene_name": "ADAMTS9",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor",
"refseq_ac": [
{
"id": "NP_001305710",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305710",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS9; KIAA1312",
"gene_names_refseq": "ADAMTS9",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 9; 3.4.24.-; ADAM-TS 9; ADAM-TS9; ADAMTS-9",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor; a disintegrin and metalloproteinase with thrombospondin motifs 9; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9",
"tax_id": 9606,
"disease": "scoliosis (Disease Ontology:DOID:0060249); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:56999); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 4,
"publication_count": 78,
"publication_id_list": "10.1101/2023.09.13.557529;10229672;10386589;10706100;10809722;10936055;10986281;11067851;11375993;11872628;12514189;12727852;12843408;14973287;15234972;15591058;15599946;15958533;16133547;16464858;1649600;16507336;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;18720094;19010778;19571574;19657146;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22419820;22588082;23035980;23481700;23845380;23889335;24715725;25544610;29393594;29557506;30459171;31154438;31844290;32157095;32938616;33968037;34085704;35051231;36093887;37074911;37105505;37169079;37938771;37957805;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107",
"class_list": "glycogene",
"function": "Ancillary domains of ADAMTS-9 are required both for specific extracellular localization and for its versicanase and aggrecanase activities, [RefSeq, PubMed]; Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos., [UniProtKB, PubMed, PubMed]; Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate., [RefSeq, PubMed]; Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis., [RefSeq, PubMed]; Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability., [RefSeq, PubMed]; LncRNA ADAMTS9-AS1 knockdown restricts cell proliferation and EMT in non-small cell lung cancer., [RefSeq, PubMed]; LncRNA ADAMTS9-AS2 regulates periodontal ligament cell migration under mechanical compression via ADAMTS9/fibronectin., [RefSeq, PubMed]; Negative effect of TGFbeta1 on ADAMTS-1, -5, -9, and -15 coupled with increases in their inhibitor, TIMP-3 may aid the accumulation of versican in the stromal compartment of the prostate in BPH and prostate cancer, [RefSeq, PubMed]; TSR-1 domain-bearing truncated ADAMTS-9 demonstrates positive GAG-binding ability & displayed low aggrecanase activity., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]., [RefSeq]",
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"reported_snv": 2465,
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"missing_score": 9641,
"biomarker_type": "",
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"secondary_ac_list": "A1L4L0;B7ZVX9;B9ZVN0;Q9NR29",
"ec_number_list": [
{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
"type": "external"
},
{
"id": "3.4.24.82",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82",
"type": "external"
},
{
"id": "3.4.24.14",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14",
"type": "external"
},
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
},
{
"id": "3.4.24.87",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87",
"type": "external"
},
{
"id": "2.4.1.221",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
"type": "external"
}
],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0009986 cell surface;GO:0031012 extracellular matrix",
"go_biological_process": "GO:0090673 endothelial cell-matrix adhesion;GO:0006508 proteolysis;GO:0015031 protein transport;GO:0030198 extracellular matrix organization;GO:0010596 negative regulation of endothelial cell migration",
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"hit_score": 8.8,
"record_id": "Q9P2N4-3",
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},
{
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{
"id": "ATS1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UHI8",
"type": "external"
}
],
"mass": 105358.0,
"length": 967,
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 1",
"gene_name": "ADAMTS1",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 1 preproprotein",
"refseq_ac": [
{
"id": "NP_008919",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008919",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS1; KIAA1346; METH1",
"gene_names_refseq": "ADAMTS1; C3-C5; METH1",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 1; 3.4.24.-; ADAM-TS 1; ADAM-TS1; ADAMTS-1; METH-1",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 1 preproprotein; ADAM-TS 1; ADAM-TS1; ADAMTS-1; METH-1; a disintegrin and metalloproteinase with thrombospondin motifs 1; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1; human metalloproteinase with thrombospondin type 1 motifs; metalloprotease and thrombospondin-1",
"tax_id": 9606,
"disease": "epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); ureteral obstruction (Disease Ontology:DOID:5199); urinary tract obstruction (Disease Ontology:DOID:5200); myocardial infarction (Disease Ontology:DOID:5844)",
"pathway": " (hsa:9510); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 4,
"publication_count": 79,
"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10229672;10386589;10438512;10706100;10785405;10809722;10986281;11067851;11237011;11375993;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16464858;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;17897672;18434311;18658137;18720094;19010778;19571574;19657146;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22588082;23035980;23584533;23845380;23889335;24714562;25544610;25576301;27846572;30459171;31844290;32938616;32983136;33592498;33968037;35051231;36371587;37254794;37951335;38263290;38665916;39333870;39672391;40878842;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107",
"class_list": "glycogene",
"function": "ADAMTS-1 has nuclear localization in cells with epithelial origin and leads to decreased cell migration., [RefSeq, PubMed]; ADAMTS1 as potential prognostic biomarker promotes malignant invasion of glioma., [RefSeq, PubMed]; Cyclic increase in the ADAMTS1-L1CAM-EGFR axis promotes the EMT and cervical lymph node metastasis of oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Metalloprotease which cleaves aggrecan, a cartilage proteoglycan, at the '1938-Glu-|-Leu-1939' site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Also cleaves COMP (PubMed:39672391). Has angiogenic inhibitor activity (PubMed:10438512). May play a critical role in follicular rupture (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1., [RefSeq, PubMed]; The oncogenic ADAMTS1-VCAN-EGFR cyclic axis drives anoikis resistance and invasion in renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"reported_snv": 1306,
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{
"id": "3.4.24.-",
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{
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{
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],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008201 heparin binding;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0031012 extracellular matrix;GO:0031410 cytoplasmic vesicle;GO:0005604 basement membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0007229 integrin-mediated signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0030198 extracellular matrix organization;GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation",
"synthesized_glycan_count": 0,
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},
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{
"id": "BTNL2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UIR0",
"type": "external"
}
],
"mass": 53517.0,
"length": 482,
"protein_name": "Butyrophilin-like protein 2",
"gene_name": "BTNL2",
"organism": "Human",
"refseq_name": "butyrophilin-like protein 2 precursor",
"refseq_ac": [
{
"id": "NP_001291490",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291490",
"type": "external"
}
],
"gene_names_uniprotkb": "BTNL2",
"gene_names_refseq": "BTL-II; BTN7; BTNL2; HSBLMHC1; SS2",
"protein_names_uniprotkb": "Butyrophilin-like protein 2; BTL-II",
"protein_names_refseq": "butyrophilin-like 2 (MHC class II associated); butyrophilin-like protein 2 precursor; butyrophilin-like protein 2",
"tax_id": 9606,
"disease": "berylliosis (Disease Ontology:DOID:10322); sarcoidosis (Disease Ontology:DOID:11335); Graves' disease (Disease Ontology:DOID:12361); Kawasaki disease (Disease Ontology:DOID:13378); coronary artery disease (Disease Ontology:DOID:3393); tuberculosis (Disease Ontology:DOID:399); rheumatoid arthritis (Disease Ontology:DOID:7148); ulcerative colitis (Disease Ontology:DOID:8577); sarcoidosis, susceptibility to, 2 (MONDO:MONDO:0012888)",
"pathway": " (hsa:56244); (R-HSA-8851680)",
"pathway_count": 2,
"publication_count": 21,
"publication_id_list": "10803852;12502743;15516930;15735647;16080124;16321988;16690410;16751379;17237401;17785817;19531472;20208008;20944003;24036152;24703779;25637025;25657647;33022050;34871226;35017553;35494241",
"class_list": "",
"function": "Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; BNTL2 associates with sarcoidosis in both White Americans and African-Americans, with risk effects in Whites independent of HLA-DRB1 associations, and negative interactions between BRNL2 and HLA classII in African-Americans. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Cancer cell-expressed BTNL2 facilitates tumour immune escape via engagement with IL-17A-producing gammadelta T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association study identifies BTNL2 associated with atopic asthma in children., [RefSeq, PubMed]; Negative regulator of T-cell proliferation., [UniProtKB]; Resiults show that BTNL2 rs2076530 polymorphism is associated with type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus because of its strong linkage disequalibrium with predisposing HLA DQB1-DRB1 haplotypes in Caucasian populations GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sarcoidosis is associated with a truncating splice site mutation in BTNL2 GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2005 Jun;37(6):652], [RefSeq, PubMed]; Shared Signature of Recent Positive Selection on the TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North Borneo., [RefSeq, PubMed]; Structural analysis of BTNL2 shows a molecule with an extracellular region containing two sets of two Ig domains, a transmembrane region, and a previously unreported cytoplasmic tail, [RefSeq, PubMed]; This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0001817 regulation of cytokine production",
"synthesized_glycan_count": 0,
"hit_score": 2.2,
"record_id": "Q9UIR0-7",
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"kg_view_protein": true
},
{
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{
"id": "ATS7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKP4",
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}
],
"mass": 184095.0,
"length": 1686,
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 7",
"gene_name": "ADAMTS7",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 7 preproprotein",
"refseq_ac": [
{
"id": "NP_055087",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055087",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS7",
"gene_names_refseq": "ADAM-TS 7; ADAM-TS7; ADAMTS-7; ADAMTS7",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 7; 3.4.24.-; ADAM-TS 7; ADAM-TS7; ADAMTS-7",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 7 preproprotein; COMPase; a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 7; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11173); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 3,
"publication_count": 38,
"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10464288;11067851;15192113;16464858;16585064;18720094;19487464;19796186;22588082;23090970;23481700;23584533;23889335;24190977;24715725;25544610;25892735;28904123;29242379;29557506;30459171;31844290;31848261;32938616;32983136;33592498;33717175;34171305;35051231;35462367;36562301;36662289;37675562;38396951;38528617;39672391",
"class_list": "",
"function": "ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1., [RefSeq, PubMed]; ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice., [RefSeq, PubMed]; ADAMTS-7 is the first metalloproteinase found to bind directly to and degrade COMP, [RefSeq, PubMed]; Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Findings demonstrate that ADAMTS-7, a direct target of PTHrP signaling, negatively regulates endochondral bone formation by associating with and inactivating GEP chondrogenic growth factor., [RefSeq, PubMed]; Metalloprotease (PubMed:16585064, PubMed:39672391). Was previously shown to degrade COMP (PubMed:16585064). However, a later study found no activity against COMP (PubMed:39672391)., [UniProtKB, PubMed, PubMed]; MiR-654-5p Suppresses Migration and Proliferation of Vascular Smooth Muscle Cells by Targeting ADAMTS-7., [RefSeq, PubMed]; The Association of ADAMTS7 Gene Polymorphisms with the Risk of Coronary Artery Disease Occurrence and Cardiovascular Survival in the Polish Population: A Case-Control and a Prospective Cohort Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]., [RefSeq]",
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{
"id": "3.4.24.-",
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14",
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{
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},
{
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{
"id": "2.4.1.221",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221",
"type": "external"
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],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0031012 extracellular matrix",
"go_biological_process": "GO:0043931 ossification involved in bone maturation;GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0071773 cellular response to BMP stimulus",
"synthesized_glycan_count": 0,
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},
{
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{
"id": "ATS6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKP5",
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],
"mass": 125273.0,
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 6",
"gene_name": "ADAMTS6",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein",
"refseq_ac": [
{
"id": "NP_922932",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_922932",
"type": "external"
}
],
"gene_names_uniprotkb": "ADAMTS6",
"gene_names_refseq": "ADAM-TS 6; ADAM-TS6; ADAMTS-6; ADAMTS6",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 6; 3.4.24.-; ADAM-TS 6; ADAM-TS6; ADAMTS-6",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 6; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11174); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 3,
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"publication_id_list": "10464288;11067851;12697333;16129570;16464858;18720094;19796186;22588082;23889335;25544610;29331515;29475036;29557506;30012220;31844290;32157095;32502341;32938616;32983136;33298915;33851708;36810712",
"class_list": "",
"function": "Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Publication Status: Online-Only, [RefSeq, PubMed]; High ADAMTS-6 expression is a marker of poor prognosis in patients with esophageal squamous cell carcinoma., [RefSeq, PubMed]; Identified a disintegrin and metalloproteinase with thrombospondin motifs 6 serve as a novel gastric cancer prognostic biomarker by bioinformatics analysis., [RefSeq, PubMed]; Study shows that the ADAMTS6 transcript contains unusually large untranslated regions (UTRs) at both the 5' and 3'end, and the 5'UTR contains 11 AUG codons upstream of the predicted ADAMTS6 start codon., [RefSeq, PubMed]; The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]., [RefSeq]",
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{
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{
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{
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],
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{
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{
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],
"mass": 96460.0,
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"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 8",
"gene_name": "ADAMTS8",
"organism": "Human",
"refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein",
"refseq_ac": [
{
"id": "NP_008968",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_008968",
"type": "external"
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],
"gene_names_uniprotkb": "ADAMTS8; METH2",
"gene_names_refseq": "ADAM-TS8; ADAMTS8; METH2",
"protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 8; 3.4.24.-; ADAM-TS 8; ADAM-TS8; ADAMTS-8; METH-2; METH-8",
"protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein; ADAMTS-8; METH-2; METH-8; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8",
"tax_id": 9606,
"disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:11095); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)",
"pathway_count": 4,
"publication_count": 75,
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"class_list": "glycogene",
"function": "ADAMTS8 and ADAMTS15 have emerged as novel predictors of survival in patients with breast carcinoma, [RefSeq, PubMed]; ADAMTS8 inhibited lung cancer progression through suppressing VEGFA., [RefSeq, PubMed]; ADAMTS8 inhibits glioma development in vitro and in vivo., [RefSeq, PubMed]; Ability of ADAMTS-8 to cleave aggrecan at aggrecanase-susceptible Glu373-Ala374 peptide bond. Presence of ADAMTS-8 mRNA transcripts in normal and osteoarthritic human cartilage. (ADAMTS-8), [RefSeq, PubMed]; Downdownregulation of METH-2 expression in primary NSCLC, often associated with promoter hypermethylation, is a frequent event, which may be related to the development of the disease., [RefSeq, PubMed]; HSFAS mediates fibroblast proliferation, migration, trans-differentiation and apoptosis in hypertrophic scars via interacting with ADAMTS8., [RefSeq, PubMed]; Has anti-angiogenic properties., [UniProtKB]; Post-translational regulation and proteolytic activity of the metalloproteinase ADAMTS8., [RefSeq, PubMed]; The Prognostic Value of ADAMTS8 and Its Role as a Tumor Suppressor in Breast Cancer., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]., [RefSeq]",
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{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
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},
{
"id": "3.4.24.82",
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{
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{
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{
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},
{
"id": "2.4.1.221",
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}
],
"go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0031012 extracellular matrix",
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},
{
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"mass": 56180.0,
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"protein_name": "Beta-secretase 2",
"gene_name": "BACE2",
"organism": "Human",
"refseq_name": "beta-secretase 2 isoform A preproprotein",
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{
"id": "NP_036237",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036237",
"type": "external"
}
],
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"gene_names_refseq": "AEPLC; ALP56; ASP1; ASP21; BACE2; BAE2; CDA13; CEAP1; DRAP",
"protein_names_uniprotkb": "Beta-secretase 2; 3.4.23.45; ASP1; Asp 1; Aspartic-like protease 56 kDa; Aspartyl protease 1; Beta-site APP cleaving enzyme 2; Beta-site amyloid precursor protein cleaving enzyme 2; DRAP; Down region aspartic protease; Memapsin-1; Membrane-associated aspartic protease 1; Theta-secretase",
"protein_names_refseq": "56 kDa aspartic-like protease; Down syndrome region aspartic protease; SLCO3A1/BACE2 fusion; aspartyl protease 1; beta-secretase 2 isoform A preproprotein; beta-site APP-cleaving enzyme 2; beta-site amyloid beta A4 precursor protein-cleaving enzyme 2; memapsin-1; membrane-associated aspartic protease 1; theta-secretase; transmembrane aspartic proteinase Asp1",
"tax_id": 9606,
"disease": "Alzheimer's disease (Disease Ontology:DOID:10652); frontotemporal dementia (Disease Ontology:DOID:9255)",
"pathway": " (hsa:25825)",
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"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10591213;10677483;10683441;10749877;10838186;10965118;11083922;11316808;11423558;12975309;15857888;16305800;16757812;16816112;16965550;20058876;21907142;23481700;23584533;23754390;24366607;25418920;25505266;25645385;25813380;26811146;27726376;29331515;29393594;29557506;29786170;30429286;30459171;31844290;32157095;32265295;32350084;32387766;32488085;32938616;33141586;33592498;33968037;34087483;34171305;34185709;35051231;35318648;35580925;36215666;36284347;37074911",
"class_list": "",
"function": "Data characterize the human beta-secretase 2 (BACE2) 5'-flanking region., [RefSeq, PubMed]; Data indicate that despite being homologous in amino acid sequence, beta-site beta amyloid precursor protein cleaving enzyme 2(BACE2) and BACE1 have distinct functions and transcriptional regulation, [RefSeq, PubMed]; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672 (PubMed:10591213, PubMed:11083922, PubMed:11423558, PubMed:15857888, PubMed:16816112). Involved in the proteolytic shedding of PMEL at early stages of melanosome biogenesis. Cleaves PMEL within the M-beta fragment to release the amyloidogenic PMEL luminal fragment containing M-alpha and a small portion of M-beta N-terminus. This is a prerequisite step for subsequent processing and assembly of PMEL fibrils into amyloid sheets (PubMed:23754390). Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity",
"go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0050435 amyloid-beta metabolic process",
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},
{
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],
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278445",
"type": "external"
}
],
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"protein_names_refseq": "coiled-coil domain-containing protein 187 isoform 1; coiled-coil domain-containing protein 187",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:399693); (R-HSA-9013106)",
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"secondary_ac_list": "Q8N5P7",
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"go_molecular_function": "GO:0008017 microtubule binding",
"go_cellular_component": "GO:0005813 centrosome",
"go_biological_process": "GO:0034453 microtubule anchoring",
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},
{
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],
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"protein_name": "Uncharacterized membrane protein C3orf80",
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{
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],
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{
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],
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},
{
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{
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"protein_name": "Photoreceptor cilium actin regulator",
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{
"id": "NP_001025054",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054",
"type": "external"
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],
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"tax_id": 9606,
"disease": "retinitis pigmentosa 54 (Disease Ontology:DOID:0110364)",
"pathway": " (hsa:388939)",
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"publication_id_list": "19901323;20398884;20398886;20811058;21412943;24780881;26758079;27029556;28763557;28837730;29393594;31548259;31819343;31844290;32265295;32983136;35051231;35580925;36396885",
"class_list": "",
"function": "A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa., [RefSeq, PubMed]; Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility., [RefSeq, PubMed]; C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported., [RefSeq, PubMed]; Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa., [RefSeq, PubMed]; Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort., [RefSeq, PubMed]; On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations., [RefSeq, PubMed]; Plays an essential role for normal photoreceptor cell maintenance and vision., [UniProtKB, PubMed]; The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]., [RefSeq]; We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005929 cilium;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment",
"go_biological_process": "GO:0007601 visual perception;GO:0035845 photoreceptor cell outer segment organization;GO:1903546 protein localization to photoreceptor outer segment",
"synthesized_glycan_count": 0,
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"record_id": "A6NGG8-1",
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},
{
"uniprot_canonical_ac": "A6NI87-1",
"uniprot_id": [
{
"id": "CBY3_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6NI87",
"type": "external"
}
],
"mass": 27343.0,
"length": 242,
"protein_name": "Sperm annulus positioning complex subunit Chibby3",
"gene_name": "CBY3",
"organism": "Human",
"refseq_name": "sperm annulus positioning complex subunit Chibby3",
"refseq_ac": [
{
"id": "NP_001157916",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157916",
"type": "external"
}
],
"gene_names_uniprotkb": "CBY3",
"gene_names_refseq": "CBY3",
"protein_names_uniprotkb": "Sperm annulus positioning complex subunit Chibby3",
"protein_names_refseq": "Protein chibby homolog 3; sperm annulus positioning complex subunit Chibby3; sperm annulus positionning complex subunit Chibby3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:646019)",
"pathway_count": 1,
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"publication_id_list": "38197861",
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"function": "Plays a key role in the correct positioning of the annulus, a septin-based ring structure in the sperm flagellum, serving both as a physical barrier and a membrane diffusion barrier that separates the midpiece (MP) from the principal piece (PP) (By similarity). This positioning is essential for proper sperm motility and function (By similarity). CBY3 interacts with CIBAR1 to form a complex which localizes to the curved membrane region of the flagellar pocket (By similarity). By doing so, may provide stability and rigidity to the periannular membrane to prevent membrane deformation (By similarity). This function is crucial for halting annulus migration at the proximal end of the fibrous sheath-containing PP (By similarity)., [UniProtKB, UniProtKB]",
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"go_cellular_component": "GO:0097227 sperm annulus",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation",
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},
{
"uniprot_canonical_ac": "P13987-1",
"uniprot_id": [
{
"id": "CD59_HUMAN",
"url": "https://www.uniprot.org/uniprot/P13987",
"type": "external"
}
],
"mass": 14177.0,
"length": 128,
"protein_name": "CD59 glycoprotein",
"gene_name": "CD59",
"organism": "Human",
"refseq_name": "CD59 glycoprotein preproprotein",
"refseq_ac": [
{
"id": "NP_000602",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000602",
"type": "external"
}
],
"gene_names_uniprotkb": "CD59; MIC11; MIN1; MIN2; MIN3; MSK21",
"gene_names_refseq": "16.3A5; 1F5; CD59; EJ16; EJ30; EL32; G344; HRF-20; HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL; MSK21; p18-20",
"protein_names_uniprotkb": "CD59 glycoprotein; 1F5 antigen; 20 kDa homologous restriction factor; HRF-20; HRF20; MAC-IP; MAC-inhibitory protein; MACIF; MEM43 antigen; MIRL; Membrane attack complex inhibition factor; Membrane inhibitor of reactive lysis; Protectin",
"protein_names_refseq": "1F5 antigen; 20 kDa homologous restriction factor; CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344); CD59 blood group antigen; CD59 glycoprotein preproprotein; CD59 glycoprotein; CD59 molecule, complement regulatory protein; Ly-6-like protein; MEM43 antigen; T cell-activating protein; human leukocyte antigen MIC11; lymphocytic antigen CD59/MEM43; membrane attack complex (MAC) inhibition factor; membrane attack complex inhibition factor; membrane inhibitor of reactive lysis; protectin; surface anitgen recognized by monoclonal antibody 16.3A5",
"tax_id": 9606,
"disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); endometrial cancer (Disease Ontology:DOID:1380); anterior uveitis (Disease Ontology:DOID:1407); ovarian cancer (Disease Ontology:DOID:2394); nephrosis (Disease Ontology:DOID:2527); glomerulonephritis (Disease Ontology:DOID:2921); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); myocardial infarction (Disease Ontology:DOID:5844); neuromyelitis optica (Disease Ontology:DOID:8869); diabetic retinopathy (Disease Ontology:DOID:8947); primary CD59 deficiency (MONDO:MONDO:0012858)",
"pathway": " (hsa:966); (R-HSA-204005); (R-HSA-5694530); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-977606)",
"pathway_count": 6,
"publication_count": 312,
"publication_id_list": "37268159;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10052452;10207177;10318838;10445031;10531307;10559958;10559959;10652252;1067618;10679020;10747087;10761932;10788476;10805801;10825291;10903204;10921873;10982397;11035026;11035033;11172815;11237011;11285137;11306556;11461920;11689559;11694537;11703931;11726511;11748249;11782012;11882685;11927603;11939578;12047556;12055245;12070132;12235121;12237308;12388752;12634853;1377690;1381503;1382994;1383553;1386357;14654841;14742712;15037235;15616190;15632110;15728195;15813748;15878873;16030262;16079145;16129679;16192651;16303754;1631136;16495487;16624868;16633337;16723730;1680566;1689664;16912714;16926190;1692709;16940185;1698710;16999828;17005010;17010120;17038314;17074750;17182573;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17499046;17505110;17562788;17566972;17607000;17684057;17760859;17927562;17956946;18025080;18086915;18182008;18283111;18283113;18287528;18524849;18780401;18809720;18843296;1898986;19015319;19109418;19164740;19265014;19269366;19296914;19566487;1957170;19631211;19638414;19656848;19758564;20357002;20427317;20477988;20533886;20545907;20637885;20679433;20805473;20966969;21136679;21219331;21478858;21525241;21532587;21689688;21788512;21844168;21878990;22013193;22094269;22157747;22304919;22424782;22544926;22675024;22802338;22869377;22898188;23090970;23149847;23345538;23378591;23479643;23481700;23487775;23584533;23650620;23698585;23839779;23852824;23864707;24119662;24190977;2420889;2465906;2466593;24715725;2475111;2475570;2476718;24806965;2481448;24917561;25202031;25406594;25436559;25492864;25576301;25586378;25619252;25619253;25645385;25813380;2606909;26791533;27600516;28228285;28510447;28832583;28904123;29242379;293688;293746;29557506;2956252;2971659;29741879;29786170;301546;30237853;30315122;30429286;30524438;30779550;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32125861;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32983136;33123756;33141586;33214551;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34846842;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36396448;36797260;37050931;37074911;37522198;37938771;3848661;38665916;39435487;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7512825;7514386;7520819;7542572;760802;761607;7690834;7691276;7691959;8001155;8128252;8132710;8221884;8253837;8276756;8345200;8495193;8505331;8620540;8636227;8663406;8670172;8692836;8786315;8991093;9038722;9053451;9054419;9094723;9114004;9150144;9177194;9235986;9244307;9288971;9307973;9323141;9380700;9382863;9395526;9405360;9472029;9490716;9647643;9671725;9751720;978134;9990005",
"class_list": "",
"function": "CD59 Expression in Skeletal Muscles and Its Role in Myasthenia Gravis. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple CD59 Polymorphisms in Chinese Patients with Mycobacterium tuberculosis Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Potent inhibitor of the complement membrane attack complex (MAC) action, which protects human cells from damage during complement activation (PubMed:11882685, PubMed:1698710, PubMed:2475111, PubMed:2475570, PubMed:2606909, PubMed:9053451). Acts by binding to the beta-haipins of C8 (C8A and C8B) components of the assembling MAC, forming an intermolecular beta-sheet that prevents incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore (PubMed:11882685, PubMed:1698710, PubMed:36797260)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SARS-CoV-2 hijacks host CD55, CD59 and factor H to impair antibody-dependent complement-mediated lysis., [RefSeq, PubMed]; The bioinformatics analysis of CD59 in Helicobacter pylori infected gastric cancer., [RefSeq, PubMed]; The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit complement membrane attack complex (MAC) assembly on cell membranes., [UniProtKB, PubMed]; This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"reported_snv": 9,
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"biomarker_type": "",
"glycan_count": 226,
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"secondary_ac_list": "E9PR17",
"ec_number_list": [],
"go_molecular_function": "GO:0001848 complement binding;GO:0140311 protein sequestering activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface",
"go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007596 blood coagulation;GO:0045916 negative regulation of complement activation;GO:0030449 regulation of complement activation;GO:0001971 negative regulation of activation of membrane attack complex",
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"record_id": "P13987-1",
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},
{
"uniprot_canonical_ac": "P07766-1",
"uniprot_id": [
{
"id": "CD3E_HUMAN",
"url": "https://www.uniprot.org/uniprot/P07766",
"type": "external"
}
],
"mass": 23147.0,
"length": 207,
"protein_name": "T-cell surface glycoprotein CD3 epsilon chain",
"gene_name": "CD3E",
"organism": "Human",
"refseq_name": "T-cell surface glycoprotein CD3 epsilon chain precursor",
"refseq_ac": [
{
"id": "NP_000724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724",
"type": "external"
}
],
"gene_names_uniprotkb": "CD3E; T3E",
"gene_names_refseq": "CD3E; CD3epsilon; IMD18; T3E; TCRE",
"protein_names_uniprotkb": "T-cell surface glycoprotein CD3 epsilon chain; T-cell surface antigen T3/Leu-4 epsilon chain",
"protein_names_refseq": "CD3-epsilon; CD3e antigen, epsilon polypeptide (TiT3 complex); CD3e molecule, epsilon (CD3-TCR complex); T-cell antigen receptor complex, epsilon subunit of T3; T-cell surface antigen T3/Leu-4 epsilon chain; T-cell surface glycoprotein CD3 epsilon chain precursor; T-cell surface glycoprotein CD3 epsilon chain",
"tax_id": 9606,
"disease": "immunodeficiency 18 (Disease Ontology:DOID:0111971); severe acute respiratory syndrome (Disease Ontology:DOID:2945)",
"pathway": " (hsa:916); (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)",
"pathway_count": 7,
"publication_count": 183,
"publication_id_list": "10384095;10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11237011;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11855827;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12110186;12213321;12473184;12483297;12485116;12522270;12588680;12660731;12893276;12938237;12947224;1387664;14510693;14514672;14719373;14970179;15034010;15084594;15122200;15125833;15136729;15144186;15145317;15155468;15187158;15294938;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15546002;15580655;15592455;15607800;15778510;15781451;15800062;15851719;15864273;15972658;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19359216;19592130;19690332;20346773;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;22661428;23302904;23580664;23695528;23929856;24305946;2470098;2530588;25703557;25716998;26284469;26300885;26507128;28165004;28265006;29493099;29557506;29863979;3012357;30522017;31020640;31313098;32357974;3267235;32730808;32983136;35051231;35241687;35580925;35710869;38614099;40592325;7479848;7531291;7542404;7565724;7761456;8178173;8490660;8520027;8550590;8601309;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9698567;9700512;9730896;9846482;9850860;9990853",
"class_list": "",
"function": "Low transcriptomic of PTPRCv1 and CD3E is an independent predictor of mortality in HIV and tuberculosis co-infected patient. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple Signaling Roles of CD3epsilon and Its Application in CAR-T Cell Therapy., [RefSeq, PubMed]; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response (PubMed:15294938, PubMed:15546002, PubMed:2470098, PubMed:40592325, PubMed:8490660). When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z (PubMed:2470098, PubMed:40592325). All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain (PubMed:2470098, PubMed:40592325). Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:40592325). CD3E ITAM phosphorylation creates docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (By similarity). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development (By similarity). Also participates in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128). In addition to its role as a TCR coreceptor, it serves as a receptor for ITPRIPL1 (PubMed:38614099). Ligand recognition inhibits T-cell activation by promoting interaction with NCK1, which prevents CD3E-ZAP70 interaction and blocks the ERK-NFkB signaling cascade and calcium influx (PubMed:12110186, PubMed:38614099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8K997",
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"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0042101 T cell receptor complex;GO:0043197 dendritic spine;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0010628 positive regulation of gene expression",
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"hit_score": 18.7,
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{
"id": "CCNB2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95067",
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],
"mass": 45282.0,
"length": 398,
"protein_name": "G2/mitotic-specific cyclin-B2",
"gene_name": "CCNB2",
"organism": "Human",
"refseq_name": "G2/mitotic-specific cyclin-B2",
"refseq_ac": [
{
"id": "NP_004692",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004692",
"type": "external"
}
],
"gene_names_uniprotkb": "CCNB2",
"gene_names_refseq": "CCNB2; HsT17299",
"protein_names_uniprotkb": "G2/mitotic-specific cyclin-B2",
"protein_names_refseq": "G2/mitotic-specific cyclin-B2",
"tax_id": 9606,
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"pathway": " (hsa:9133); (R-HSA-156711); (R-HSA-162658); (R-HSA-2500257); (R-HSA-2514853); (R-HSA-2565942); (R-HSA-2980767); (R-HSA-2995383); (R-HSA-3301854); (R-HSA-69273); (R-HSA-69478); (R-HSA-8852276)",
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"class_list": "",
"function": "Cyclin B2 impairs the p53 signaling in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008]., [RefSeq]; Essential for the control of the cell cycle at the G2/M (mitosis) transition., [UniProtKB]; Hsa_circ_0000285 knockdown inhibits the progression of hepatocellular carcinoma by sponging miR-582-3p to regulate CCNB2 expression., [RefSeq, PubMed]; Prognostic value of cyclin B1 and cyclin B2 expression in breast cancer: A systematic review and updated meta-analysis., [RefSeq, PubMed]; Upregulation of CCNB2 and a novel lncRNAs-related risk model predict prognosis in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0045296 cadherin binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol",
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},
{
"uniprot_canonical_ac": "O95415-1",
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{
"id": "BRI3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95415",
"type": "external"
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],
"mass": 13645.0,
"length": 125,
"protein_name": "Membrane protein BRI3",
"gene_name": "BRI3",
"organism": "Human",
"refseq_name": "membrane protein BRI3 isoform b",
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{
"id": "NP_001152963",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152963",
"type": "external"
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],
"gene_names_uniprotkb": "BRI3",
"gene_names_refseq": "BRI3; I3",
"protein_names_uniprotkb": "Membrane protein BRI3; Brain protein I3; pRGR2",
"protein_names_refseq": "membrane protein BRI3 isoform b; membrane protein BRI3; pRGR2",
"tax_id": 9606,
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"pathway": " (hsa:25798); (R-HSA-6798695)",
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"class_list": "",
"function": "In the context of hepatocellular carcinoma cells, BRI3 is a target of WNT signaling., [RefSeq, PubMed]; NRBP1-Containing CRL2/CRL4A Regulates Amyloid beta Production by Targeting BRI2 and BRI3 for Degradation., [RefSeq, PubMed]; Participates in tumor necrosis factor-alpha (TNF)-induced cell death (PubMed:14592447). May be a target of Wnt/beta-catenin signaling in the liver (PubMed:20538055)., [UniProtKB, PubMed, PubMed]",
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},
{
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"protein_name": "Transmembrane reductase CYB561D2",
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"organism": "Human",
"refseq_name": "transmembrane reductase CYB561D2 isoform 1",
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{
"id": "NP_001278213",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278213",
"type": "external"
}
],
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"protein_names_uniprotkb": "Transmembrane reductase CYB561D2; 7.2.1.3; Cytochrome b561 domain-containing protein 2; Putative tumor suppressor protein 101F6",
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"tax_id": 9606,
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"function": "The protein exhibits the characteristics typical of members of the cytochrome b561 family, being a hydrophobic, transmembrane heme protein. It is capable of oxidation-reduction reaction and is a candidate tumor suppressor gene product., [RefSeq, PubMed]; Transmembrane reductase that may use ascorbate as an electron donor in the cytoplasm and transfer electrons across endoplasmic reticulum membranes to reduce monodehydro-L-ascorbate radical and iron cations Fe(3+) in the lumen of that compartment., [UniProtKB, PubMed, PubMed]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:7.2.1.3",
"type": "external"
}
],
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/O14613",
"type": "external"
}
],
"mass": 22484.0,
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"protein_name": "Cdc42 effector protein 2",
"gene_name": "CDC42EP2",
"organism": "Human",
"refseq_name": "cdc42 effector protein 2",
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{
"id": "NP_006770",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006770",
"type": "external"
}
],
"gene_names_uniprotkb": "CDC42EP2; BORG1; CEP2",
"gene_names_refseq": "BORG1; CDC42EP2; CEP2",
"protein_names_uniprotkb": "Cdc42 effector protein 2; Binder of Rho GTPases 1",
"protein_names_refseq": "CDC42 effector protein (Rho GTPase binding) 2; CRIB-containing BOGR1 protein; binder of Rho GTPases 1; cdc42 effector protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10435); (R-HSA-5687128); (R-HSA-9013148); (R-HSA-9013406)",
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"class_list": "",
"function": "Activations of Rac1 and Cdc42 are involved in the hypoxia-induced production of angiogenesis-promoting factors and tumor suppressors, and suggest that the Rho family GTPases Rac1 and Cdc42 may contribute to the hypoxia-mediated angiogenesis., [RefSeq, PubMed]; CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]., [RefSeq]; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner., [UniProtKB, PubMed, PubMed]; Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling. Review article, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding;GO:0001515 opioid peptide activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0007015 actin filament organization;GO:0030036 actin cytoskeleton organization;GO:0007266 Rho protein signal transduction;GO:0031334 positive regulation of protein-containing complex assembly;GO:0008360 regulation of cell shape",
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},
{
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}
],
"mass": 47443.0,
"length": 435,
"protein_name": "T-box transcription factor T",
"gene_name": "TBXT",
"organism": "Human",
"refseq_name": "T-box transcription factor T isoform 2",
"refseq_ac": [
{
"id": "NP_001257413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413",
"type": "external"
}
],
"gene_names_uniprotkb": "TBXT; T",
"gene_names_refseq": "SAVA; TBXT; TFT; T",
"protein_names_uniprotkb": "T-box transcription factor T; Brachyury protein; Protein T",
"protein_names_refseq": "T brachyury transcription factor; T, brachyury homolog; T-box transcription factor T isoform 2; brachyury protein; protein T",
"tax_id": 9606,
"disease": "neural tube defect (Disease Ontology:DOID:0080074); chordoma (Disease Ontology:DOID:3302); sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (MONDO:MONDO:0014314); neural tube defects, susceptibility to (MONDO:MONDO:0020705)",
"pathway": " (hsa:6862); (R-HSA-9733709); (R-HSA-9754189); (R-HSA-9758919); (R-HSA-9793380); (R-HSA-9796292); (R-HSA-9823730)",
"pathway_count": 7,
"publication_count": 60,
"publication_id_list": "10441331;10655587;11237011;15095414;15110706;15449172;17068183;17204604;18042803;18550259;18729794;19415658;19479054;19564924;19801981;21245162;21630377;21741376;21855631;22611028;24253444;25186612;25187301;25693565;25843708;25921273;25936800;26015544;26783251;27705785;28178531;28832583;28904123;29234012;29242379;29393594;29508533;29636455;29729076;30237576;30379171;30629940;30779550;31637018;31840817;32265295;32448362;32502341;32795420;33054971;33091337;33521702;33734319;34392582;34837714;35051231;35580925;38418917;8963900;9417125",
"class_list": "",
"function": "Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay., [RefSeq, PubMed]; Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site., [UniProtKB, UniProtKB]; Machine learning based tissue analysis reveals Brachyury has a diagnosis value in breast cancer., [RefSeq, PubMed]; On the genetic basis of tail-loss evolution in humans and apes., [RefSeq, PubMed]; Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis., [RefSeq, PubMed]; Targeted brachyury degradation disrupts a highly specific autoregulatory program controlling chordoma cell identity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]., [RefSeq]",
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"secondary_ac_list": "E7ERD6;Q4KMP4",
"ec_number_list": [],
"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0001708 cell fate specification;GO:0060379 cardiac muscle cell myoblast differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
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},
{
"uniprot_canonical_ac": "P11912-1",
"uniprot_id": [
{
"id": "CD79A_HUMAN",
"url": "https://www.uniprot.org/uniprot/P11912",
"type": "external"
}
],
"mass": 25038.0,
"length": 226,
"protein_name": "B-cell antigen receptor complex-associated protein alpha chain",
"gene_name": "CD79A",
"organism": "Human",
"refseq_name": "B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001774",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774",
"type": "external"
}
],
"gene_names_uniprotkb": "CD79A; IGA; MB1",
"gene_names_refseq": "CD79A; IGAlpha; IGA; MB-1; MB1",
"protein_names_uniprotkb": "B-cell antigen receptor complex-associated protein alpha chain; Ig-alpha; MB-1 membrane glycoprotein; Membrane-bound immunoglobulin-associated protein; Surface IgM-associated protein",
"protein_names_refseq": "B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor; B-cell antigen receptor complex-associated protein alpha chain; CD79a antigen (immunoglobulin-associated alpha); CD79a molecule, immunoglobulin-associated alpha; MB-1 membrane glycoprotein; ig-alpha; membrane-bound immunoglobulin-associated protein; surface IgM-associated protein",
"tax_id": 9606,
"disease": "agammaglobulinemia 3 (Disease Ontology:DOID:0081137)",
"pathway": " (hsa:973); (R-HSA-5690714); (R-HSA-9679191); (R-HSA-983695)",
"pathway_count": 4,
"publication_count": 191,
"publication_id_list": "10051622;10087012;10432293;10498607;10525050;10556826;10648173;10706702;10748115;10770799;1081164;10880360;10900006;10983984;11042164;11071869;11226282;11237011;11449366;11606584;11901194;11909947;11920841;11994425;12181444;12453414;12456653;12573241;1372019;1374290;1375264;1376928;1395095;15161916;15187135;1534761;1538135;1550550;15509800;1599430;16115318;1639443;16408005;16522641;16849466;16906149;1702903;1705565;17224452;1729378;17452328;17486119;17662961;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18991276;18995841;19206206;19249086;19372136;2011584;20192804;20223979;20940318;21408196;21469132;21822214;22180443;22210847;22401777;22552008;22814904;2303036;2304550;23641311;23719902;23836650;24190977;24272870;24584101;2463161;24715725;24769851;25418920;25801024;26002965;26375851;26811146;26992070;27846572;27893789;27920218;28063628;28218747;28228285;28425720;28649982;28832583;28904123;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29741879;29769354;29786170;29945920;30201761;30315122;30410026;30626607;31048504;31092671;31154438;31530632;31844290;31937595;31998317;32265295;32350084;32357974;32502341;32897882;32983136;33091337;33141586;33298915;33691108;33717175;33936100;34093574;34357683;34932366;3500860;35051231;35154160;35561310;35580925;35981043;36426942;36469024;37074911;37520541;38630892;39894887;4589993;6335036;7514267;7524079;7528218;7538118;7561031;7592958;7618087;7643857;7687428;7687539;7688784;7691807;7706301;7916003;7927516;803528;8163536;8207205;8306975;8475064;8617796;8947047;9057631;9235916;9326643;9341187;9382888;9480991;9531288;9547345;9601638;9697839;9705962;9890995",
"class_list": "",
"function": "Compromised antigen binding and signaling interfere with bispecific CD19 and CD79a chimeric antigen receptor function., [RefSeq, PubMed]; Immunoglobulin A levels and its correlation with neutrophil-to-lymphocyte ratio as inflammatory biomarkers for dry eye disease in type 2 diabetes: a retrospective study. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression., [RefSeq, PubMed]; 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., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A0N775;Q53FB8",
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"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane;GO:0005771 multivesicular body;GO:0019815 B cell receptor complex",
"go_biological_process": "GO:0042113 B cell activation;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0030183 B cell differentiation;GO:0042100 B cell proliferation",
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"hit_score": 20.7,
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},
{
"uniprot_canonical_ac": "P12645-1",
"uniprot_id": [
{
"id": "BMP3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P12645",
"type": "external"
}
],
"mass": 53372.0,
"length": 472,
"protein_name": "Bone morphogenetic protein 3",
"gene_name": "BMP3",
"organism": "Human",
"refseq_name": "bone morphogenetic protein 3 preproprotein",
"refseq_ac": [
{
"id": "NP_001192",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192",
"type": "external"
}
],
"gene_names_uniprotkb": "BMP3; BMP3A",
"gene_names_refseq": "BMP-3A; BMP3",
"protein_names_uniprotkb": "Bone morphogenetic protein 3; BMP-3A; BMP-3; Bone morphogenetic protein 3A; Osteogenin",
"protein_names_refseq": "bone morphogenetic protein 3 (osteogenic); bone morphogenetic protein 3 preproprotein; bone morphogenetic protein 3A; osteogenin",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:651)",
"pathway_count": 1,
"publication_count": 25,
"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11138004;13678778;15269709;15475196;17924656;23584533;24190977;29314611;29557506;29789417;31665064;3201241;32157095;32568738;32938616;34350522;35051231;35081500;35251023;35254053;35561310;36461613;37074911",
"class_list": "",
"function": "Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentiation and ossification (PubMed:11138004, PubMed:15269709). Initiates signaling cascades by associating with type II receptor ACVR2B to activate SMAD2-dependent and SMAD-independent signaling cascades including TAK1 and JNK pathways (PubMed:31665064)., [UniProtKB, PubMed, PubMed, PubMed]; Inhibition of BMP3 increases the inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis., [RefSeq, PubMed]; LncRNA SNHG3 regulates the BMSC osteogenic differentiation in bone metastasis of breast cancer by modulating the miR-1273g-3p/BMP3 axis., [RefSeq, PubMed]; Overexpression of lncRNA A2M-AS1 inhibits cell growth and aggressiveness via regulating the miR-587/bone morphogenetic protein 3 axis in lung adenocarcinoma., [RefSeq, PubMed]; Results found that BMP3 gene was extensively hypermethylated and downregulated in colorectal cancer (CRC) and suggest that BMP3 acts as a tumor suppressor or has a growth rate-limiting role in CRC development and progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]., [RefSeq]; USF2 reduces BMP3 expression via transcriptional activation of miR-34a, thus promoting osteogenic differentiation of BMSCs., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0070700 BMP receptor binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0007267 cell-cell signaling;GO:0001501 skeletal system development;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway;GO:0001649 osteoblast differentiation;GO:0051216 cartilage development",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y3T9-1",
"uniprot_id": [
{
"id": "NOC2L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y3T9",
"type": "external"
}
],
"mass": 84919.0,
"length": 749,
"protein_name": "Nucleolar complex protein 2 homolog",
"gene_name": "NOC2L",
"organism": "Human",
"refseq_name": "nucleolar complex protein 2 homolog",
"refseq_ac": [
{
"id": "NP_056473",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056473",
"type": "external"
}
],
"gene_names_uniprotkb": "NOC2L; NIR",
"gene_names_refseq": "NET15; NET7; NIR; NOC2L; PPP1R112",
"protein_names_uniprotkb": "Nucleolar complex protein 2 homolog; NOC2-like protein; Novel INHAT repressor; Protein NOC2 homolog",
"protein_names_refseq": "NOC2-like protein; NOC2L nucleolar associated transcriptional repressor; novel INHAT (inhibitor of histone acetyltransferase) repressor; novel INHAT repressor; nucleolar complex associated 2 homolog; nucleolar complex protein 2 homolog; protein NOC2 homolog; protein phosphatase 1, regulatory subunit 12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26155); (R-HSA-6804756)",
"pathway_count": 2,
"publication_count": 147,
"publication_id_list": "10435622;10500146;10570149;10604467;10673500;10673501;10710310;10884347;11230166;11239457;11447225;11511362;11546806;11551930;11740489;11780126;12064478;12393879;12429849;12702766;12851404;12914926;14702041;15053879;15866171;16083285;16322561;16565220;17081983;17108107;17349958;17591690;17924679;18212344;18452278;18490454;18491316;18669648;18691976;18707149;19007248;19121998;19413330;19415658;19651622;19664995;19690332;19691289;19965871;20068231;20123734;20166139;20959462;21317932;21406692;22363708;23000554;23186163;23481700;23485397;23676219;24145406;24275569;24366607;24714562;24715725;24874608;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26992070;27058226;27600516;27846572;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31099044;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32931817;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34725712;34932366;35051231;35580925;36010968;36215666;36241641;37938771;40596516;40914422;9925639",
"class_list": "",
"function": "A transcriptional repressor NIR functions in the rRNA biogenesis of both the 40S and 60S subunits., [RefSeq, PubMed]; Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter., [UniProtKB, PubMed, PubMed, PubMed]; Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]., [RefSeq]; LncRNA NOC2L-4.1 functions as a tumor oncogene in cervical cancer progression by regulating the miR-630/YAP1 pathway., [RefSeq, PubMed]; NIR promotes progression of colorectal cancer through regulating RB., [RefSeq, PubMed]; Upon recruitment by p53, NIR represses transcription of both p53-dependent reporters and endogenous target genes, [RefSeq, PubMed]",
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"secondary_ac_list": "Q5SVA3;Q9BTN6",
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"go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0042393 histone binding;GO:0031491 nucleosome binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0030690 Noc1p-Noc2p complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0042273 ribosomal large subunit biogenesis;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0034644 cellular response to UV",
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},
{
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{
"id": "FLOT2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14254",
"type": "external"
}
],
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"protein_name": "Flotillin-2",
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"organism": "Human",
"refseq_name": "flotillin-2 isoform 1",
"refseq_ac": [
{
"id": "NP_004466",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004466",
"type": "external"
}
],
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"gene_names_refseq": "ECS-1; ECS1; ESA1; ESA; FLOT2; M17S1",
"protein_names_uniprotkb": "Flotillin-2; ESA; Epidermal surface antigen; Membrane component chromosome 17 surface marker 1",
"protein_names_refseq": "Flotillin 2 (epidermal surface antigen 1); flotillin-2 isoform 1; membrane component chromosome 17 surface marker 1; membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:2319); (R-HSA-5213460); (R-HSA-5675482); (R-HSA-8849932); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9696264); (R-HSA-9696273)",
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"class_list": "",
"function": "Analysis and Investigation of Bioinformatics and Epigenetics Reveal the Underlying Mechanisms by which FLOT2 Modulates the Progression of Diffuse Large B-cell Lymphoma., [RefSeq, PubMed]; Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]., [RefSeq]; EFR3A: a new raft domain organizing protein? Publication Status: Online-Only, [RefSeq, PubMed]; Fat mass and obesity-associated protein (FTO)-induced upregulation of flotillin-2 (FLOT2) contributes to cancer aggressiveness in diffuse large B-cell lymphoma (DLBCL) via activating the PI3K/Akt/mTOR signal pathway., [RefSeq, PubMed]; Flotillin-2 regulates epidermal growth factor receptor activation, degradation by Cbl-mediated ubiquitination, and cancer growth., [RefSeq, PubMed]; HDAC6-mediated deacetylation of FLOT2 maintains stability and tumorigenic function of FLOT2 in nasopharyngeal carcinoma., [RefSeq, PubMed]; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function., [UniProtKB]",
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"go_molecular_function": "GO:0002020 protease binding",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion",
"go_biological_process": "GO:0044860 protein localization to plasma membrane raft;GO:1903905 positive regulation of establishment of T cell polarity;GO:0007155 cell adhesion;GO:0010629 negative regulation of gene expression;GO:0072659 protein localization to plasma membrane",
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},
{
"uniprot_canonical_ac": "Q9UKY1-1",
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{
"id": "ZHX1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKY1",
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}
],
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"protein_name": "Zinc fingers and homeoboxes protein 1",
"gene_name": "ZHX1",
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{
"id": "NP_001017926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017926",
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}
],
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"protein_names_uniprotkb": "Zinc fingers and homeoboxes protein 1",
"protein_names_refseq": "zinc finger and homeodomain protein 1; zinc fingers and homeobox 1; zinc fingers and homeoboxes protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:11244)",
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"function": "A search of ZHX1-interacting proteins using a yeast two-hybrid system, [RefSeq, PubMed]; Acts as a transcriptional repressor. Increases DNMT3B-mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins., [UniProtKB, PubMed]; Structure of the tandem zinc-finger region of human ZHX1, [RefSeq, PubMed]; The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]., [RefSeq]; This study characterized features of ZHX-1 involved in nuclear localization, dimerization, and transcriptional activity, and mapped these domains., [RefSeq, PubMed]; Together, this study demonstrates that ZHX1 plays crucial roles in the progression of glioblastoma, and its findings suggest that ZHX1 be viewed as a potential prognostic maker and therapeutic target of glioblastoma., [RefSeq, PubMed]; ZHX1 expression is correlated with renal cell carcinoma progression and poor survival. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q8IWD8",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0046982 protein heterodimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "Q5JY77-1",
"uniprot_id": [
{
"id": "GASP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JY77",
"type": "external"
}
],
"mass": 156865.0,
"length": 1395,
"protein_name": "G protein-coupled receptor-associated sorting protein 1",
"gene_name": "GPRASP1",
"organism": "Human",
"refseq_name": "G-protein coupled receptor-associated sorting protein 1",
"refseq_ac": [
{
"id": "NP_001092880",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092880",
"type": "external"
}
],
"gene_names_uniprotkb": "GPRASP1; GASP; KIAA0443",
"gene_names_refseq": "GASP-1; GASP1; GASP; GPRASP1",
"protein_names_uniprotkb": "G protein-coupled receptor-associated sorting protein 1; GASP-1",
"protein_names_refseq": "G-protein coupled receptor-associated sorting protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9737)",
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"publication_id_list": "12142540;15086532;15452121;16049099;23954414;25706089;29557506;30379171;30429286;31154438;31848261;34171305;35051231;35122807;35494241;35580925;36264603;36801507;37217939",
"class_list": "",
"function": "Comprehensive pan-cancer analysis of role of GPRASP1, associated with clinical outcomes, immune microenvironment, and immunotherapeutic efficiency in pancreatic cancer., [RefSeq, PubMed]; G-protein coupled receptor-associated sorting protein 1 (GASP-1), a ubiquitous tumor marker, promotes proliferation and invasion of triple negative breast cancer., [RefSeq, PubMed]; GPRASP1 is a candidate anti-oncogene and correlates with immune microenvironment and immunotherapeutic efficiency in head and neck cancer., [RefSeq, PubMed]; Identified a protein that binds preferentially to the cytoplasmic tail of the delta opioid receptor as a candidate heterotrimeric GTP-binding protein (G protein)-coupled receptor-associated sorting protein (GASP) [GASP], [RefSeq, PubMed]; Modulates lysosomal sorting and functional down-regulation of a variety of G protein-coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2., [UniProtKB, PubMed, PubMed, PubMed]; Modulation of the D2-GASP interaction is important for the functional down-regulation of D2 dopamine receptors., [RefSeq, PubMed]; Study demonstrated that binding of clozapine or olanzapine to the 5-HT7 receptor leads to antagonist-mediated lysosomal degradation by exposing key residues in the C-terminal tail that interact with GASP-1, [RefSeq, PubMed]; This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]., [RefSeq]",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/O75444",
"type": "external"
}
],
"mass": 38492.0,
"length": 373,
"protein_name": "Transcription factor Maf",
"gene_name": "MAF",
"organism": "Human",
"refseq_name": "transcription factor Maf isoform b",
"refseq_ac": [
{
"id": "NP_001026974",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974",
"type": "external"
}
],
"gene_names_uniprotkb": "MAF",
"gene_names_refseq": "AYGRP; CCA4; CTRCT21; MAF; c-MAF",
"protein_names_uniprotkb": "Transcription factor Maf; Proto-oncogene c-Maf; V-maf musculoaponeurotic fibrosarcoma oncogene homolog",
"protein_names_refseq": "Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene; T lymphocyte c-maf long form; c-maf proto-oncogene; proto-oncogene c-Maf; transcription factor Maf isoform b; transcription factor Maf; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog",
"tax_id": 9606,
"disease": "cataract 21 multiple types (Disease Ontology:DOID:0110256); Ayme-Gripp syndrome (Disease Ontology:DOID:0111688); cataract (Disease Ontology:DOID:83); multiple myeloma (Disease Ontology:DOID:9538)",
"pathway": " (hsa:4094); (R-HSA-8940973); (R-HSA-9976102)",
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"publication_id_list": "11106645;11545733;11772997;12149651;12231506;12391164;12529404;14765127;14998494;15007382;15963504;16025100;16099986;16247450;16470690;16751105;17074750;17875808;17897790;18042454;18477452;19143053;19182255;19389811;19801668;20686481;20877012;21173110;24442204;24664492;25645385;25755297;25865393;25865493;25993510;26967290;26992070;27600516;27797343;27862975;28832583;29242379;29493099;29557506;29786170;29789417;29914532;31154438;31222486;31844290;31848261;32157095;32350084;32387766;32488085;32983136;33123756;33592498;34509645;35051231;35395181;35467036;35580925;35613277;36010968;36284347;36719481;37710417;37938771;7891679;9182762;9616139",
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"function": "Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; C-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells., [RefSeq, PubMed]; C-Maf: The magic wand that turns on LSEC fate., [RefSeq, PubMed]; Differential metabolic requirement governed by transcription factor c-Maf dictates innate gammadeltaT17 effector functionality in mice and humans., [RefSeq, PubMed]; Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway., [RefSeq, PubMed]; The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; Transcription factor c-Maf drives macrophages to promote hypertrophic scar formation., [RefSeq, PubMed]",
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"secondary_ac_list": "Q66I47;Q9UP93",
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"go_molecular_function": "GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin",
"go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0070306 lens fiber cell differentiation",
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"record_id": "O75444-2",
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},
{
"uniprot_canonical_ac": "O15525-1",
"uniprot_id": [
{
"id": "MAFG_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15525",
"type": "external"
}
],
"mass": 17850.0,
"length": 162,
"protein_name": "Transcription factor MafG",
"gene_name": "MAFG",
"organism": "Human",
"refseq_name": "transcription factor MafG",
"refseq_ac": [
{
"id": "NP_002350",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002350",
"type": "external"
}
],
"gene_names_uniprotkb": "MAFG",
"gene_names_refseq": "MAFG; hMAF",
"protein_names_uniprotkb": "Transcription factor MafG; V-maf musculoaponeurotic fibrosarcoma oncogene homolog G; hMAF",
"protein_names_refseq": "basic leucine zipper transcription factor MafG; transcription factor MafG; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4097); (R-HSA-9759194); (R-HSA-9818028); (R-HSA-983231)",
"pathway_count": 4,
"publication_count": 117,
"publication_id_list": "10821856;11042108;11062261;11154691;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12234984;12427746;15020713;15247287;15710388;16054028;1630448;17027967;17196961;17925401;18160138;19273602;19293402;20068231;20112406;20452972;20530532;20627800;21775727;218813;22789539;22965115;23186163;24714562;24715725;25114211;25218447;25469497;25576301;25755297;25772364;26154972;26728094;26845023;26992070;27161318;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28860189;28985506;29233872;29242379;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;31217245;31597407;31844290;31989830;32157095;32265295;32284348;32303435;32336239;32387766;32488085;32502341;32582032;32649885;32897882;32938616;32983136;33043019;33592498;33859744;33912179;3409321;34171305;34932366;35051231;35254053;35580925;36215666;36241641;36284347;36654385;37938771;40596516;8662638;8816476;8932385;9065479;9150357;9166829;9195958;9230307;9286713;9326583;9331217;9421508;9422515;9927674",
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"function": "Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]., [RefSeq]; MAFG-AS1/MAFG positive feedback loop contributes to cisplatin resistance in bladder urothelial carcinoma through antagonistic ferroptosis., [RefSeq, PubMed]; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites (PubMed:11154691, PubMed:8932385, PubMed:9421508). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor (PubMed:11154691). Transcription factor, component of erythroid-specific transcription factor NFE2L2 (PubMed:11154691). Activates globin gene expression when associated with NFE2L2 (PubMed:11154691). May be involved in signal transduction of extracellular H(+) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm",
"go_biological_process": "GO:0045604 regulation of epidermal cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression",
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},
{
"uniprot_canonical_ac": "Q9Y5Q3-1",
"uniprot_id": [
{
"id": "MAFB_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y5Q3",
"type": "external"
}
],
"mass": 35792.0,
"length": 323,
"protein_name": "Transcription factor MafB",
"gene_name": "MAFB",
"organism": "Human",
"refseq_name": "transcription factor MafB",
"refseq_ac": [
{
"id": "NP_005452",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005452",
"type": "external"
}
],
"gene_names_uniprotkb": "MAFB; KRML",
"gene_names_refseq": "DURS3; KRML; MAFB; MCTO",
"protein_names_uniprotkb": "Transcription factor MafB; Maf-B; V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
"protein_names_refseq": "Kreisler maf-related leucine zipper homolog; MAFB/Kreisler basic region/leucine zipper transcription factor; transcription factor MafB; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B",
"tax_id": 9606,
"disease": "Duane retraction syndrome 3 (Disease Ontology:DOID:0061029); multicentric carpotarsal osteolysis syndrome (Disease Ontology:DOID:0111534); Duane retraction syndrome (Disease Ontology:DOID:12557)",
"pathway": " (hsa:9935); (R-HSA-5617472)",
"pathway_count": 2,
"publication_count": 74,
"publication_id_list": "10444328;10777502;15135046;15867264;15963504;16079151;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18042454;18781158;19115252;19143053;19232136;19747919;1975088;19782034;19854132;19932079;20085832;22387013;22569366;22705304;22879880;23219899;23534758;23630040;24174538;24312487;24442204;24586203;25101834;25135475;2570724;25913784;27181683;27397612;27846572;29393594;29557506;30429286;30779550;31154438;31848261;32387766;32502341;32938616;32983136;34185709;35051231;35580925;36010968;36284347;36764337;36897571;36930354;37917179;37938771;37996430;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740",
"class_list": "",
"function": "Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB. Publication Status: Online-Only, [RefSeq, PubMed]; MAFB shapes human monocyte-derived macrophage response to SARS-CoV-2 and controls severe COVID-19 biomarker expression. Publication Status: Online-Only, [RefSeq, PubMed]; MafB-dependent neurotransmitter signaling promotes beta cell migration in the developing pancreas., [RefSeq, PubMed]; Misexpression of LINC01410, FOSL1, and MAFB in peripheral blood mononuclear cells associated with diabetic nephropathy., [RefSeq, PubMed]; Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B3KNE1;Q9H1F1",
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"go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016485 protein processing;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "Q9Y5Q3-1",
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},
{
"uniprot_canonical_ac": "Q5XKL5-3",
"uniprot_id": [
{
"id": "BTBD8_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5XKL5",
"type": "external"
}
],
"mass": 199030.0,
"length": 1792,
"protein_name": "BTB/POZ domain-containing protein 8",
"gene_name": "BTBD8",
"organism": "Human",
"refseq_name": "BTB/POZ domain-containing protein 8 isoform 2",
"refseq_ac": [
{
"id": "NP_056052",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056052",
"type": "external"
}
],
"gene_names_uniprotkb": "BTBD8; KIAA1107",
"gene_names_refseq": "BTBD8; KIAA1107",
"protein_names_uniprotkb": "BTB/POZ domain-containing protein 8; AP2-interacting clathrin-endocytosis; APache",
"protein_names_refseq": "AP2-interacting clathrin-endocytosis protein; APache; BTB (POZ) domain containing 8; BTB domain protein; BTB/POZ domain-containing protein 8 isoform 2; BTB/POZ domain-containing protein 8; double BTB/POZ domain containing protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:284697)",
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"publication_count": 6,
"publication_id_list": "14654994;29262337;29557506;32157095;33981976;35494241",
"class_list": "",
"function": "Expression pattern of BTBD8 shows it may have a function related to brain development, [RefSeq, PubMed]; Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission., [UniProtKB, UniProtKB]",
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"secondary_ac_list": "A0A1B0GUL6;A0A1B0GWG1;O14767;Q6V9S5;Q8N3X7;Q9UPP5",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030424 axon;GO:0030122 AP-2 adaptor complex",
"go_biological_process": "GO:0016182 synaptic vesicle budding from endosome;GO:0048488 synaptic vesicle endocytosis",
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"record_id": "Q5XKL5-3",
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},
{
"uniprot_canonical_ac": "P24863-1",
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{
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"url": "https://www.uniprot.org/uniprot/P24863",
"type": "external"
}
],
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"protein_name": "Cyclin-C",
"gene_name": "CCNC",
"organism": "Human",
"refseq_name": "cyclin-C isoform b",
"refseq_ac": [
{
"id": "NP_001013417",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013417",
"type": "external"
}
],
"gene_names_uniprotkb": "CCNC",
"gene_names_refseq": "CCNC; CycC; SRB11; hSRB11",
"protein_names_uniprotkb": "Cyclin-C; SRB11 homolog; hSRB11",
"protein_names_refseq": "SRB11 homolog; cyclin-C isoform b",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:892); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-212436); (R-HSA-2173796); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)",
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"class_list": "",
"function": "Component of the Mediator complex, a coactivator involved in regulated gene 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. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Genome-wide CRISPR screens reveal cyclin C as synthetic survival target of BRCA2., [RefSeq, PubMed]; Loss of Cyclin C or CDK8 provides ATR inhibitor resistance by suppressing transcription-associated replication stress., [RefSeq, PubMed]; The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "B4DPZ1;Q9H543",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 mediator complex;GO:1990508 CKM complex;GO:0000307 cyclin-dependent protein kinase holoenzyme complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045746 negative regulation of Notch signaling pathway;GO:0045023 G0 to G1 transition;GO:0006357 regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 21.8,
"record_id": "P24863-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
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},
{
"uniprot_canonical_ac": "Q6QEF8-1",
"uniprot_id": [
{
"id": "CORO6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6QEF8",
"type": "external"
}
],
"mass": 52762.0,
"length": 472,
"protein_name": "Coronin-6",
"gene_name": "CORO6",
"organism": "Human",
"refseq_name": "coronin-6 isoform 1",
"refseq_ac": [
{
"id": "NP_116243",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116243",
"type": "external"
}
],
"gene_names_uniprotkb": "CORO6; PP1009; PP1782; PP1881",
"gene_names_refseq": "CORO6; ClipinE",
"protein_names_uniprotkb": "Coronin-6; Clipin-E; Coronin-like protein E",
"protein_names_refseq": "clipin-E; coronin, actin binding protein 6; coronin-6 isoform 1; coronin-like protein E",
"tax_id": 9606,
"disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)",
"pathway": " (hsa:84940)",
"pathway_count": 1,
"publication_count": 16,
"publication_id_list": "11237011;15498874;24715725;29557506;30410026;31844290;32350084;32387766;32938616;33141586;33298915;33968037;34509645;34561969;35051231;38253038",
"class_list": "",
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"secondary_ac_list": "B3KU26;Q71MF3;Q8WYH7;Q96K02",
"ec_number_list": [],
"go_molecular_function": "GO:0051015 actin filament binding",
"go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0030027 lamellipodium",
"go_biological_process": "GO:0007015 actin filament organization;GO:0051129 negative regulation of cellular component organization",
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"hit_score": 1.9,
"record_id": "Q6QEF8-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q53T94-1",
"uniprot_id": [
{
"id": "TAF1B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q53T94",
"type": "external"
}
],
"mass": 68832.0,
"length": 588,
"protein_name": "TATA box-binding protein-associated factor RNA polymerase I subunit B",
"gene_name": "TAF1B",
"organism": "Human",
"refseq_name": "TATA box-binding protein-associated factor RNA polymerase I subunit B isoform b",
"refseq_ac": [
{
"id": "NP_001305905",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305905",
"type": "external"
}
],
"gene_names_uniprotkb": "TAF1B",
"gene_names_refseq": "MGC:9349; RAF1B; RAFI63; SL1; TAF1B; TAFI63",
"protein_names_uniprotkb": "TATA box-binding protein-associated factor RNA polymerase I subunit B; RNA polymerase I-specific TBP-associated factor 63 kDa; TAFI63; TATA box-binding protein-associated factor 1B; TBP-associated factor 1B; Transcription initiation factor SL1/TIF-IB subunit B",
"protein_names_refseq": "RNA polymerase I-specific TBP-associated factor 63 kDa; SL1, 63kD subunit; TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD; TATA box-binding protein-associated factor 1B; TATA box-binding protein-associated factor RNA polymerase I subunit B isoform b; TATA-box binding protein associated factor, RNA polymerase I, B; TBP-associated factor 1B; transcription initiation factor SL1/TIF-IB subunit B",
"tax_id": 9606,
"disease": "mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); Lynch syndrome (Disease Ontology:DOID:3883)",
"pathway": " (hsa:9014); (R-HSA-427359); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)",
"pathway_count": 7,
"publication_count": 97,
"publication_id_list": "10082553;10471499;10894955;10913176;11237011;11250901;11250903;11283244;12393749;12646563;14610093;14969726;15469825;1547496;15558034;15970593;16514417;16603771;17318177;17355984;18485871;19608861;19838300;21559432;21921198;21921199;22645359;22805593;23481700;23555303;23667505;23897426;24714562;24901984;24952918;25576301;25645385;25880248;25892735;25916849;26024233;26154972;26593443;26992070;27418187;27418309;27600516;27846572;27920218;2805069;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33968037;33981976;34171305;34357683;34405274;34509645;34932366;35051231;35318648;35580925;36010968;7491500;7597036;7801123;7801130;9582279",
"class_list": "",
"function": "AEP coactivator complex facilitates the initiation of RNAP2-dependent transcription via SL1 activity by loading TBP onto the TATA element. Publication Status: Online-Only, [RefSeq, PubMed]; Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]",
"predicted_glycosites": 0,
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"reported_mutagensis": 3,
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"reported_snv": 4,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"binding_glycan_count": 0,
"secondary_ac_list": "B4DI42;F8WD72;Q15574;Q8WVC3",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0017025 TBP-class protein binding;GO:0001164 RNA polymerase I core promoter sequence-specific DNA binding",
"go_cellular_component": "GO:0005668 RNA polymerase transcription factor SL1 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0070860 RNA polymerase I core factor complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0042790 nucleolar large rRNA transcription by RNA polymerase I;GO:0001188 RNA polymerase I preinitiation complex assembly",
"synthesized_glycan_count": 0,
"hit_score": 9.8,
"record_id": "Q53T94-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P20807-1",
"uniprot_id": [
{
"id": "CAN3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P20807",
"type": "external"
}
],
"mass": 94254.0,
"length": 821,
"protein_name": "Calpain-3",
"gene_name": "CAPN3",
"organism": "Human",
"refseq_name": "calpain-3 isoform a",
"refseq_ac": [
{
"id": "NP_000061",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000061",
"type": "external"
}
],
"gene_names_uniprotkb": "CAPN3; CANP3; CANPL3; NCL1",
"gene_names_refseq": "CANP3; CANPL3; CAPN3; LGMD2A; LGMD2; LGMDD4; LGMDR1; nCL-1; p94",
"protein_names_uniprotkb": "Calpain-3; 3.4.22.54; CANP 3; Calcium-activated neutral proteinase 3; Calpain L3; Calpain p94; Muscle-specific calcium-activated neutral protease 3; New calpain 1; nCL-1",
"protein_names_refseq": "calpain p94, large [catalytic] subunit; calpain, large polypeptide L3; calpain-3 isoform a; muscle-specific calcium-activated neutral protease 3 large subunit; new calpain 1",
"tax_id": 9606,
"disease": "autosomal dominant limb-girdle muscular dystrophy (Disease Ontology:DOID:0110273); autosomal recessive limb-girdle muscular dystrophy (Disease Ontology:DOID:0110274); autosomal recessive limb-girdle muscular dystrophy type 2A (Disease Ontology:DOID:0110275); hereditary spastic paraplegia 76 (Disease Ontology:DOID:0110821); intellectual disability (Disease Ontology:DOID:1059); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); hereditary spastic paraplegia (Disease Ontology:DOID:2476); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular dystrophy (Disease Ontology:DOID:9884); obesity (Disease Ontology:DOID:9970); muscular dystrophy, limb-girdle, autosomal dominant 4 (MONDO:MONDO:0029133)",
"pathway": " (hsa:825); (R-HSA-1474228)",
"pathway_count": 2,
"publication_count": 83,
"publication_id_list": "10229672;10330340;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12727852;12843408;14583192;14973287;15234972;15591058;15958533;16133547;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19571574;19657146;19714641;20068231;20142769;20634290;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23357851;23707407;23845380;24846670;2555341;27020652;27234031;27259757;27657329;28881388;29351928;32157095;32488085;34185709;35051231;35580925;36215666;37217939;37589857;37938771;38299438;38561828;38830343;39894887;7075587;7547873;7720071;8226919;8624690;8626565;9065415;9115292;9148753;9150160;9266733;9452114;9461298;9655129;9762961;9771675;9852107",
"class_list": "",
"function": "Calcium-regulated non-lysosomal thiol-protease., [UniProtKB, UniProtKB, UniProtKB]; Calcium-regulated non-lysosomal thiol-protease. Proteolytically cleaves CTBP1 at 'His-409'. Mediates, with UTP25, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329)., [UniProtKB, PubMed, PubMed, PubMed]; Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]., [RefSeq]; Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene., [RefSeq, PubMed]; Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. Publication Status: Online-Only, [RefSeq, PubMed]; The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy., [RefSeq, PubMed]; Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1., [RefSeq, PubMed]",
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"secondary_ac_list": "A6H8K6;Q7L4R0;Q9BQC8;Q9BTU4;Q9Y5S6;Q9Y5S7",
"ec_number_list": [
{
"id": "3.4.22.53",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.53",
"type": "external"
},
{
"id": "3.4.22.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-",
"type": "external"
},
{
"id": "3.4.22.52",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52",
"type": "external"
},
{
"id": "3.4.22.54",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.54",
"type": "external"
}
],
"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0003824 catalytic activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0043066 negative regulation of apoptotic process;GO:0046716 muscle cell cellular homeostasis;GO:0051592 response to calcium ion;GO:0006915 apoptotic process",
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},
{
"uniprot_canonical_ac": "Q9Y2R2-1",
"uniprot_id": [
{
"id": "PTN22_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y2R2",
"type": "external"
}
],
"mass": 91705.0,
"length": 807,
"protein_name": "Tyrosine-protein phosphatase non-receptor type 22",
"gene_name": "PTPN22",
"organism": "Human",
"refseq_name": "tyrosine-protein phosphatase non-receptor type 22 isoform 4",
"refseq_ac": [
{
"id": "NP_001295226",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295226",
"type": "external"
}
],
"gene_names_uniprotkb": "PTPN22; PTPN8",
"gene_names_refseq": "LYP1; LYP2; LYP; PEP; PTPN22.5; PTPN22.6; PTPN22; PTPN8",
"protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 22; 3.1.3.48; Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP; LyP; Lymphoid phosphatase; PEP; PEST-domain phosphatase",
"protein_names_refseq": "PEST-domain phosphatase; hematopoietic cell protein-tyrosine phosphatase 70Z-PEP; lymphoid-specific protein tyrosine phosphatase; protein tyrosine phosphatase, non-receptor type 22 (lymphoid); protein tyrosine phosphatase, non-receptor type 8; tyrosine-protein phosphatase non-receptor type 22 isoform 4",
"tax_id": 9606,
"disease": "Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Addison's disease (Disease Ontology:DOID:13774); hypothyroidism (Disease Ontology:DOID:1459); urticaria (Disease Ontology:DOID:1555); multiple sclerosis (Disease Ontology:DOID:2377); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); coronary artery disease (Disease Ontology:DOID:3393); systemic scleroderma (Disease Ontology:DOID:418); myasthenia gravis (Disease Ontology:DOID:437); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); rheumatoid arthritis (Disease Ontology:DOID:7148); autoimmune thyroiditis (Disease Ontology:DOID:7188); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744); Meniere's disease (Disease Ontology:DOID:9849); alopecia areata (Disease Ontology:DOID:986)",
"pathway": " (hsa:26191); (R-HSA-202427); (R-HSA-202430)",
"pathway_count": 3,
"publication_count": 103,
"publication_id_list": "10068674;10790433;11237011;11827988;11882361;12485116;12764153;12938237;15004560;15084594;15208781;15273934;15489910;15489916;15531553;15719322;16015369;16364187;16461343;17729039;18056643;18981062;19167335;19265110;19371084;20058876;20346773;21044313;21287672;21543337;21719704;22426112;22427951;22952725;23186163;23580664;23871208;23991106;24366607;24715725;2530588;25418920;25576301;25892735;26154972;26375851;26811146;26929215;26992070;27043286;27846572;27869121;27920218;28063628;28218747;28228285;28437437;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30784271;31092671;31154438;31217245;31530632;31844290;32357974;32387766;32502341;32897882;32983136;33298915;33691108;33912179;33968037;34087483;34932366;35051231;35580925;36284347;37893542;38112398;38777143;39342392;39425874;40914422;8520027;9850860",
"class_list": "",
"function": "A novel gain-of-function phosphorylation site modulates PTPN22 inhibition of TCR signaling., [RefSeq, PubMed]; Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating 'Tyr-493' residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106). Acts as an activator of NLRP3 inflammasome assembly by mediating dephosphorylation of 'Tyr-861' of NLRP3 (PubMed:27043286). Dephosphorylates phospho-anandamide (p-AEA), an endocannabinoid to anandamide (also called N-arachidonoylethanolamide) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Association between PYTPN22 rs2476601, VEGF rs833070, TNFAIP3 rs6920220 Polymorphisms and Risk for Rheumatoid Arthritis in Early Undifferentiated Arthritis Patients: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in childhood onset type 1 diabetes in a Pakistani population. Publication Status: Online-Only, [RefSeq, PubMed]; Data demonstrate a novel interaction between Lyp and the adaptor Grb2 and are consistent with a negative regulatory role for Lyp in T-cell signaling., [RefSeq, PubMed]; Increased expression of protein tyrosine phosphatase nonreceptor type 22 alters early T-cell receptor signaling and differentiation of CD4[+] T cells in chronic heart failure., [RefSeq, PubMed]; LYP regulates SLP76 and other adaptor proteins in T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Lyp may play an antagonistic role in signaling by the Bcr-Abl fusion protein, [RefSeq, PubMed]; This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"total_reported_n_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 8,
"reported_mutagensis": 4,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 29,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A0N0K6;B1ALC8;D4NZ71;E9PLD8;E9PPI1;O95063;O95064;Q6IPX8;Q8WVM1",
"ec_number_list": [
{
"id": "3.1.3.16",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16",
"type": "external"
},
{
"id": "3.1.3.48",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48",
"type": "external"
},
{
"id": "3.1.3.21",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21",
"type": "external"
},
{
"id": "3.1.3.18",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18",
"type": "external"
},
{
"id": "3.1.3.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-",
"type": "external"
},
{
"id": "2.7.10.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2",
"type": "external"
},
{
"id": "3.1.3.5",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5",
"type": "external"
},
{
"id": "3.1.3.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2",
"type": "external"
},
{
"id": "2.7.10.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1",
"type": "external"
},
{
"id": "2.7.10.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4",
"type": "external"
},
{
"id": "3.1.3.67",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67",
"type": "external"
},
{
"id": "3.1.3.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27",
"type": "external"
}
],
"go_molecular_function": "GO:0017124 SH3 domain binding;GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0016791 phosphatase activity;GO:0004726 non-membrane spanning protein tyrosine phosphatase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0009898 cytoplasmic side of plasma membrane",
"go_biological_process": "GO:0034141 positive regulation of toll-like receptor 3 signaling pathway;GO:0006629 lipid metabolic process;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0032496 response to lipopolysaccharide",
"synthesized_glycan_count": 0,
"hit_score": 10.6,
"record_id": "Q9Y2R2-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96AQ6-1",
"uniprot_id": [
{
"id": "PBIP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96AQ6",
"type": "external"
}
],
"mass": 80643.0,
"length": 731,
"protein_name": "Pre-B-cell leukemia transcription factor-interacting protein 1",
"gene_name": "PBXIP1",
"organism": "Human",
"refseq_name": "pre-B-cell leukemia transcription factor-interacting protein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001304663",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304663",
"type": "external"
}
],
"gene_names_uniprotkb": "PBXIP1; HPIP",
"gene_names_refseq": "HPIP; PBXIP1",
"protein_names_uniprotkb": "Pre-B-cell leukemia transcription factor-interacting protein 1; Hematopoietic PBX-interacting protein",
"protein_names_refseq": "hematopoietic PBX-interacting protein; pre-B-cell leukemia homeobox interacting protein 1; pre-B-cell leukemia transcription factor-interacting protein 1 isoform 2; pre-B-cell leukemia transcription factor-interacting protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57326)",
"pathway_count": 1,
"publication_count": 87,
"publication_id_list": "10.1101/2023.09.13.557529;10825160;11237011;12360403;17043237;17081983;18578522;18669648;19007248;19651622;20068231;20112406;21406692;22187427;23090970;23186163;23481700;24190977;24275569;24715725;25418920;25576301;26154972;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29741879;29786170;30315122;30429286;30484775;31092671;31154438;31530632;31611695;31844290;31848261;32131934;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33717175;33936100;33968037;34078123;34357683;34405274;34846842;34932366;35051231;35251023;35254053;35580925;36010968;36241641;37074911;37217939;37541260;37797694;37938771;38665916;40596516",
"class_list": "",
"function": "HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover., [RefSeq, PubMed]; HPIP is a target of GATA1 and CTCF in erythroid cells and plays an important role in erythroid differentiation by modulating the PI3K/AKT pathway, [RefSeq, PubMed]; HPIP is overexpressed in pancreatic ductal adenocarcinoma tissue. Knockdown of HPIP promotes the apoptosis and inhibits the proliferation and G0/G1 to S transition of PDAC cells., [RefSeq, PubMed]; Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]., [RefSeq]",
"predicted_glycosites": 0,
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"biomarker_type": "",
"glycan_count": 14,
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"secondary_ac_list": "Q5T174;Q5T176;Q9H8X6;Q9HA02;Q9HD85",
"ec_number_list": [],
"go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity;GO:0140297 DNA-binding transcription factor binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005667 transcription regulator complex",
"go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0030097 hemopoiesis",
"synthesized_glycan_count": 0,
"hit_score": 10.4,
"record_id": "Q96AQ6-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P68400-1",
"uniprot_id": [
{
"id": "CSK21_HUMAN",
"url": "https://www.uniprot.org/uniprot/P68400",
"type": "external"
}
],
"mass": 45144.0,
"length": 391,
"protein_name": "Casein kinase II subunit alpha",
"gene_name": "CSNK2A1",
"organism": "Human",
"refseq_name": "casein kinase II subunit alpha isoform a",
"refseq_ac": [
{
"id": "NP_001886",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001886",
"type": "external"
}
],
"gene_names_uniprotkb": "CSNK2A1; CK2A1",
"gene_names_refseq": "CK2A1; CKII; CSNK2A1; Cka1; Cka2; OCNDS",
"protein_names_uniprotkb": "Casein kinase II subunit alpha; 2.7.11.1; CK II alpha",
"protein_names_refseq": "CK2 catalytic subunit alpha; casein kinase 2, alpha 1 polypeptide; casein kinase II alpha 1 polypeptide pseudogene; casein kinase II alpha 1 subunit; casein kinase II subunit alpha isoform a; protein kinase CK2",
"tax_id": 9606,
"disease": "aromatase excess syndrome (Disease Ontology:DOID:0090122); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); protein-energy malnutrition (Disease Ontology:DOID:11801); urethral obstruction (Disease Ontology:DOID:12577); Sjogren's syndrome (Disease Ontology:DOID:12894); endometrial cancer (Disease Ontology:DOID:1380); bladder neck obstruction (Disease Ontology:DOID:13948); hypothyroidism (Disease Ontology:DOID:1459); prostatitis (Disease Ontology:DOID:14654); breast cancer (Disease Ontology:DOID:1612); disorder of sexual development (Disease Ontology:DOID:1923); ovarian cancer (Disease Ontology:DOID:2394); endometriosis (Disease Ontology:DOID:289); placental insufficiency (Disease Ontology:DOID:3891); esophagus adenocarcinoma (Disease Ontology:DOID:4914); myocardial infarction (Disease Ontology:DOID:5844); prostate carcinoma in situ (Disease Ontology:DOID:8634); Okur-Chung neurodevelopmental syndrome (MONDO:MONDO:0014893)",
"pathway": " (hsa:1457); (R-HSA-1483191); (R-HSA-201688); (R-HSA-2514853); (R-HSA-445144); (R-HSA-6804756); (R-HSA-6814122); (R-HSA-8934903); (R-HSA-8939243); (R-HSA-8948751); (R-HSA-9755511); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9929491); (R-HSA-9931529); (R-HSA-9931530)",
"pathway_count": 16,
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"function": "CK2 activity is crucial for proper glucagon expression., [RefSeq, PubMed]; CSNK2A1 confers gemcitabine resistance to pancreatic ductal adenocarcinoma via inducing autophagy., [RefSeq, PubMed]; Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]., [RefSeq]; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family., [RefSeq, PubMed]; Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion., [RefSeq, PubMed]",
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],
"go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016301 kinase activity;GO:0051879 Hsp90 protein binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016605 PML body",
"go_biological_process": "GO:1905818 regulation of chromosome separation;GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation",
"synthesized_glycan_count": 0,
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"record_id": "P68400-1",
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},
{
"uniprot_canonical_ac": "P17948-1",
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{
"id": "VGFR1_HUMAN",
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],
"mass": 150769.0,
"length": 1338,
"protein_name": "Vascular endothelial growth factor receptor 1",
"gene_name": "FLT1",
"organism": "Human",
"refseq_name": "vascular endothelial growth factor receptor 1 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001153392",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153392",
"type": "external"
}
],
"gene_names_uniprotkb": "FLT1; FLT; FRT; VEGFR1",
"gene_names_refseq": "FLT-1; FLT1; FLT; VEGFR-1; VEGFR1",
"protein_names_uniprotkb": "Vascular endothelial growth factor receptor 1; 2.7.10.1; FLT-1; FLT; Fms-like tyrosine kinase 1; Tyrosine-protein kinase FRT; Tyrosine-protein kinase receptor FLT; VEGFR-1; Vascular permeability factor receptor",
"protein_names_refseq": "fms related tyrosine kinase 1; fms-like tyrosine kinase 1; fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor); tyrosine-protein kinase FRT; tyrosine-protein kinase receptor FLT; vascular endothelial growth factor receptor 1 isoform 2 precursor; vascular endothelial growth factor receptor 1; vascular permeability factor receptor",
"tax_id": 9606,
"disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); atrial fibrillation (Disease Ontology:DOID:0060224); cerebral cavernous malformation (Disease Ontology:DOID:0060669); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); pre-eclampsia (Disease Ontology:DOID:10591); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); corneal neovascularization (Disease Ontology:DOID:11382); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); retinopathy of prematurity (Disease Ontology:DOID:13025); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); Kawasaki disease (Disease Ontology:DOID:13378); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); Leydig cell tumor (Disease Ontology:DOID:2696); allergic contact dermatitis (Disease Ontology:DOID:3042); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); thyroid gland carcinoma (Disease Ontology:DOID:3963); macular retinal edema (Disease Ontology:DOID:4449); renal cell carcinoma (Disease Ontology:DOID:4450); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); osteoarthritis (Disease Ontology:DOID:8398); prostate carcinoma in situ (Disease Ontology:DOID:8634); vascular dementia (Disease Ontology:DOID:8725); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); nasopharynx carcinoma (Disease Ontology:DOID:9261)",
"pathway": " (hsa:2321); (R-HSA-194306); (R-HSA-195399)",
"pathway_count": 3,
"publication_count": 109,
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"class_list": "",
"function": "FLT1 activation in cancer cells promotes PARP-inhibitor resistance in breast cancer., [RefSeq, PubMed]; Has a truncated kinase domain; it increases phosphorylation of SRC at 'Tyr-418' by unknown means and promotes tumor cell invasion., [UniProtKB, PubMed]; Interaction of Purine and its Derivatives with A1, A2-Adenosine Receptors and Vascular Endothelial Growth Factor Receptor-1 (Vegf-R1) as a Therapeutic Alternative to Treat Cancer., [RefSeq, PubMed]; May function as decoy receptor for VEGFA., [UniProtKB, PubMed]; Overexpression of Human sFLT1 in the Spongiotrophoblast Is Sufficient to Induce Placental Dysfunction and Fetal Growth Restriction in Transgenic Mice. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylates PLCG., [UniProtKB, PubMed]; This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. Acts as a positive regulator of postnatal retinal hyaloid vessel regression (By similarity). May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferation seems to be cell-type specific. Promotes PGF-mediated proliferation of endothelial cells, proliferation of some types of cancer cells, but does not promote proliferation of normal fibroblasts (in vitro). Has very high affinity for VEGFA and relatively low protein kinase activity; may function as a negative regulator of VEGFA signaling by limiting the amount of free VEGFA and preventing its binding to KDR. Modulates KDR signaling by forming heterodimers with KDR. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leading to activation of phosphatidylinositol kinase and the downstream signaling pathway. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Phosphorylates SRC and YES1, and may also phosphorylate CBL. Promotes phosphorylation of AKT1 at 'Ser-473'. Promotes phosphorylation of PTK2/FAK1 (PubMed:16685275)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]",
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"biomarker_type": "",
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"secondary_ac_list": "A3E342;A3E344;A8KA71;B0LPF1;B2BF46;B2BF47;B2BF48;B3FR89;B5A923;F5H5L6;O60722;P16057;Q12954",
"ec_number_list": [
{
"id": "2.7.12.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2",
"type": "external"
},
{
"id": "2.7.10.1",
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{
"id": "2.7.10.2",
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{
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},
{
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},
{
"id": "2.7.1.40",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40",
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},
{
"id": "2.7.1.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32",
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{
"id": "2.7.1.82",
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},
{
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{
"id": "2.7.11.13",
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},
{
"id": "2.7.11.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23",
"type": "external"
}
],
"go_molecular_function": "GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0005021 vascular endothelial growth factor receptor activity;GO:0036332 placental growth factor receptor activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0043235 receptor complex",
"go_biological_process": "GO:1990384 hyaloid vascular plexus regression;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration;GO:0018108 peptidyl-tyrosine phosphorylation",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q13042-1",
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{
"id": "CDC16_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13042",
"type": "external"
}
],
"mass": 71656.0,
"length": 620,
"protein_name": "Cell division cycle protein 16 homolog",
"gene_name": "CDC16",
"organism": "Human",
"refseq_name": "cell division cycle protein 16 homolog isoform 1",
"refseq_ac": [
{
"id": "NP_001072113",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072113",
"type": "external"
}
],
"gene_names_uniprotkb": "CDC16; ANAPC6",
"gene_names_refseq": "ANAPC6; APC6; CDC16Hs; CDC16; CUT9",
"protein_names_uniprotkb": "Cell division cycle protein 16 homolog; APC6; Anaphase-promoting complex subunit 6; CDC16 homolog; CDC16Hs; Cyclosome subunit 6",
"protein_names_refseq": "anaphase-promoting complex, subunit 6; cell division cycle 16 homolog; cell division cycle protein 16 homolog isoform 1; cell division cycle protein 16 homolog; cyclosome subunit 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8881); (R-HSA-141430); (R-HSA-174048); (R-HSA-174084); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-176407); (R-HSA-176408); (R-HSA-176409); (R-HSA-176412); (R-HSA-179409); (R-HSA-2467813); (R-HSA-2559582); (R-HSA-68867); (R-HSA-69017); (R-HSA-8853884); (R-HSA-9687136); (R-HSA-983168)",
"pathway_count": 19,
"publication_count": 200,
"publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12646216;12832467;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16565220;16595681;16626623;16648845;16824194;16849449;16954532;16964243;17187060;17234884;17485488;18267069;18411265;18452278;18485873;18555777;18555778;18662542;18669648;18691976;19028597;19352404;19452197;19489725;19651622;19664995;19668213;19690332;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20351173;20452968;21325273;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22885700;23186163;23481700;23603117;23846687;23851460;2405250;24706756;24715725;25043029;25231993;25418920;25645385;26083744;26154972;26222030;26375851;26992070;27120157;27249176;27509861;27600516;27846572;27862975;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29033132;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34595750;34932366;35051231;35088579;35318648;35561310;35580925;36010968;36241641;36284347;37074911;37938771;38665916;40914422;7736578;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9405394;9628895;9635433;9668046;9892021",
"class_list": "",
"function": "Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:18485873). APC/C acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). APC/C is activated by CDC20 in the metaphase/anaphase transition of cell cycle, targeting the degradation of cyclin B and securin (PubMed:27120157, PubMed:27509861). APC/C is regulated by the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation (PubMed:27509861)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DEPDC1B Promotes Melanoma Angiogenesis and Metastasis through Sequestration of Ubiquitin Ligase CDC16 to Stabilize Secreted SCUBE3., [RefSeq, PubMed]; The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]., [RefSeq]",
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 7,
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"reported_glycation": 0,
"reported_snv": 10,
"reported_interactions": 0,
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"biomarker_type": "",
"glycan_count": 10,
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"binding_glycan_count": 0,
"secondary_ac_list": "A2A365;Q5T8C8;Q7Z651;Q96AE6;Q9Y564",
"ec_number_list": [],
"go_molecular_function": "GO:0140767 enzyme-substrate adaptor activity",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex",
"go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0031145 anaphase-promoting complex-dependent catabolic process;GO:0070979 protein K11-linked ubiquitination",
"synthesized_glycan_count": 0,
"hit_score": 21.3,
"record_id": "Q13042-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q16627-1",
"uniprot_id": [
{
"id": "CCL14_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16627",
"type": "external"
}
],
"mass": 10678.0,
"length": 93,
"protein_name": "C-C motif chemokine 14",
"gene_name": "CCL14",
"organism": "Human",
"refseq_name": "C-C motif chemokine 14 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_116738",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116738",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL14; NCC2; SCYA14",
"gene_names_refseq": "CC-1; CC-3; CCL14; CKB1; HCC-1(1-74); HCC-1/HCC-3; HCC-1; HCC-3; MCIF; NCC-2; NCC2; SCYA14; SCYL2; SY14",
"protein_names_uniprotkb": "C-C motif chemokine 14; Chemokine CC-1/CC-3; HCC-1(1-74); HCC-1/HCC-3; NCC-2; Small-inducible cytokine A14",
"protein_names_refseq": "C-C motif chemokine 14 isoform 2 precursor; C-C motif chemokine 14; chemokine (C-C motif) ligand 14; chemokine CC-1/CC-3; chemokine CC-3; hemofiltrate CC chemokine 1; new CC chemokine 2; small inducible cytokine subfamily A (Cys-Cys), member 14; small-inducible cytokine A14",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6358)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "10213461;10978165;11085751;11237011;17691823;29557506;30459171;31848261;32157095;35580925;35973397;36409028;37596698;8551235;9600961",
"class_list": "",
"function": "CCL14 exacerbates intraplaque vulnerability by promoting neovascularization in the human carotid plaque., [RefSeq, PubMed]; Chemokine CCL14 affected the clinical outcome and correlated with immune infiltrates in thyroid carcinoma., [RefSeq, PubMed]; Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induces intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and is inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes, eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5., [UniProtKB, PubMed]; Performance of urinary C-C motif chemokine ligand 14 for the prediction of persistent acute kidney injury: a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009]., [RefSeq]",
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"secondary_ac_list": "E1P649;E1P650;Q13954",
"ec_number_list": [],
"go_molecular_function": "GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0006954 inflammatory response;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0070098 chemokine-mediated signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 1.8,
"record_id": "Q16627-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9HCM9-1",
"uniprot_id": [
{
"id": "TRI39_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HCM9",
"type": "external"
}
],
"mass": 59690.0,
"length": 518,
"protein_name": "E3 ubiquitin-protein ligase TRIM39",
"gene_name": "TRIM39",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase TRIM39 isoform 1",
"refseq_ac": [
{
"id": "NP_067076",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_067076",
"type": "external"
}
],
"gene_names_uniprotkb": "TRIM39; RNF23; TFP",
"gene_names_refseq": "RNF23; TFP; TRIM39B; TRIM39",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM39; 2.3.2.27; RING finger protein 23; RING-type E3 ubiquitin transferase TRIM39; Testis-abundant finger protein; Tripartite motif-containing protein 39",
"protein_names_refseq": "E3 ubiquitin-protein ligase TRIM39 isoform 1; E3 ubiquitin-protein ligase TRIM39; RING-type E3 ubiquitin transferase TRIM39; ring finger protein 23; testis-abundant finger protein; tripartite motif-containing protein 39",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:56658); (R-HSA-983168)",
"pathway_count": 2,
"publication_count": 46,
"publication_id_list": "11006080;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16094384;16595681;16702430;16849449;16954532;18662542;19028597;19100260;19352404;19452197;19489725;19851334;19874575;19940261;22529100;2261476;23213251;23481700;26363554;26992070;30429286;30833945;32161166;32938616;32983136;33298915;33311639;33846303;33968037;34171305;35051231;35174936;36010968;38253038;40596516;9380723;9668046",
"class_list": "",
"function": "E3 ubiquitin-protein ligase (PubMed:22529100). May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly-ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1 (PubMed:19100260, PubMed:22529100). Regulates the G1/S transition of the cell cycle and DNA damage-induced G2 arrest by stabilizing CDKN1A/p21 (PubMed:23213251). Positively regulates CDKN1A/p21 stability by competing with DTL for CDKN1A/p21 binding, therefore disrupting DCX(DTL) E3 ubiquitin ligase complex-mediated CDKN1A/p21 ubiquitination and degradation (PubMed:23213251)., [UniProtKB, PubMed, PubMed, PubMed]; Nasopharyngeal carcinoma MHC region deep sequencing identifies HLA and novel non-HLA TRIM31 and TRIM39 loci. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the G1/S transition of the cell cycle and DNA damage-induced G2 arrest by stabilizing CDKN1A/p21 (PubMed:23213251). Positively regulates CDKN1A/p21 stability by competing with DTL for CDKN1A/p21 binding, therefore disrupting DCX(DTL) E3 ubiquitin ligase complex-mediated CDKN1A/p21 ubiquitination and degradation (PubMed:23213251). Negatively regulates the canonical NF-kappa-B signaling pathway via stabilization of CACTIN in an ubiquitination-independent manner (PubMed:26363554)., [UniProtKB, PubMed, PubMed]; TRIM39 deficiency inhibits tumor progression and autophagic flux in colorectal cancer via suppressing the activity of Rab7. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM39 is a poor prognostic factor for patients with estrogen receptor-positive breast cancer and promotes cell cycle progression., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"ec_number_list": [
{
"id": "2.3.2.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24",
"type": "external"
},
{
"id": "2.3.2.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23",
"type": "external"
},
{
"id": "2.3.2.26",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31",
"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-",
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32",
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},
{
"id": "3.6.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25",
"type": "external"
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{
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"type": "external"
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{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol",
"go_biological_process": "GO:0045087 innate immune response;GO:0006915 apoptotic process;GO:2001235 positive regulation of apoptotic signaling pathway;GO:0050821 protein stabilization;GO:0043124 negative regulation of canonical NF-kappaB signal transduction",
"synthesized_glycan_count": 0,
"hit_score": 5.0,
"record_id": "Q9HCM9-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q16637-1",
"uniprot_id": [
{
"id": "SMN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16637",
"type": "external"
}
],
"mass": 31849.0,
"length": 294,
"protein_name": "Survival motor neuron protein",
"gene_name": "SMN1; SMN2",
"organism": "Human",
"refseq_name": "survival motor neuron protein isoform d",
"refseq_ac": [
{
"id": "NP_000335",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000335",
"type": "external"
}
],
"gene_names_uniprotkb": "SMN1; SMN2; SMN1; SMN2; SMNC; SMNT; SMN",
"gene_names_refseq": "BCD541; GEMIN1; SMA1; SMA2; SMA3; SMA4; SMA@; SMA; SMN1; SMNT; SMN; T-BCD541; TDRD16A",
"protein_names_uniprotkb": "Survival motor neuron protein; Component of gems 1; Gemin-1",
"protein_names_refseq": "component of gems 1; gemin-1; survival motor neuron 1 protein; survival motor neuron protein isoform d; tudor domain containing 16A",
"tax_id": 9606,
"disease": "adult spinal muscular atrophy (Disease Ontology:DOID:0050529); intermediate spinal muscular atrophy (Disease Ontology:DOID:0050530); childhood spinal muscular atrophy (Disease Ontology:DOID:0060160); juvenile spinal muscular atrophy (Disease Ontology:DOID:12376); spinal muscular atrophy (Disease Ontology:DOID:12377); Werdnig-Hoffmann disease (Disease Ontology:DOID:13137)",
"pathway": " (hsa:6606); (hsa:6607); (R-HSA-191859); (R-HSA-9754678)",
"pathway_count": 4,
"publication_count": 154,
"publication_id_list": "10500148;10531003;10556282;10601333;10725331;10732802;10732817;10851237;11135666;11237011;11283611;11333016;11551898;11574476;11641277;11714716;11748230;12065586;12067652;12095920;12441251;12628254;12776181;12975319;14715275;15249625;15345747;15580564;16087681;16565220;17081983;17103222;17178713;17487921;18093976;18452278;18491316;18669648;18691976;18767875;18984161;19369195;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19838190;20058876;20068231;20166139;21072240;21088113;21389246;21406692;21609790;21700224;21816274;22101937;22223895;22607171;23022347;23063131;23186163;23301498;23481700;24275569;24714562;24715725;25576301;25737013;25880248;25892735;26092730;26154972;26375851;26700805;26992070;27846572;27920218;28228285;28832583;28904123;29061699;29242379;29393594;29493099;29508533;29632711;29769354;29786170;30484775;31217245;31799625;31844290;32157095;32357974;32387766;32502341;32680882;32897882;32908316;32938616;32995776;32995777;33080218;33141586;33188728;33268501;33298915;33479166;33592498;33691108;33717175;33754639;33912179;33936100;33981976;34019948;34171305;34211107;34315815;34373319;34509645;34624207;35051231;35561310;35580925;36010968;36284347;36610391;37938771;37957344;38520993;38806879;38969036;40914422;7552146;7639755;7658877;7813012;8196654;8551862;8670859;8838816;9147655;9158159;9259265;9323129;9503025;9837824;9845364",
"class_list": "",
"function": "Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study., [RefSeq, PubMed]; Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations., [RefSeq, PubMed]; Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. Review article, [RefSeq, PubMed]; SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:18984161, PubMed:9845364). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (PubMed:18984161). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:17178713, PubMed:21816274, PubMed:22101937). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625). Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131). Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
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"reported_phosphosites": 11,
"reported_mutagensis": 30,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 6,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K0V4;Q13119;Q549U5;Q96J51",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030424 axon",
"go_biological_process": "GO:0007409 axonogenesis;GO:0000387 spliceosomal snRNP assembly;GO:0006353 DNA-templated transcription termination;GO:0000245 spliceosomal complex assembly;GO:0000375 RNA splicing, via transesterification reactions",
"synthesized_glycan_count": 0,
"hit_score": 15.7,
"record_id": "Q16637-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P21127-1",
"uniprot_id": [
{
"id": "CD11B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P21127",
"type": "external"
}
],
"mass": 92620.0,
"length": 795,
"protein_name": "Cyclin-dependent kinase 11B",
"gene_name": "CDK11B",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 11B isoform 3",
"refseq_ac": [
{
"id": "NP_277022",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_277022",
"type": "external"
}
],
"gene_names_uniprotkb": "CDK11B; CDC2L1; CDK11; PITSLREA",
"gene_names_refseq": "CDC2L1; CDK11-p110; CDK11-p46; CDK11-p58; CDK11B; CDK11; CLK-1; PITSLREA; PK58; p58CDC2L1; p58CLK-1; p58",
"protein_names_uniprotkb": "Cyclin-dependent kinase 11B; 2.7.11.22; 2.7.11.23; CLK-1; Cell division cycle 2-like protein kinase 1; Cell division protein kinase 11B; Galactosyltransferase-associated protein kinase p58/GTA; PITSLRE serine/threonine-protein kinase CDC2L1; p58 CLK-1",
"protein_names_refseq": "CDC-related protein kinase p58; PITSLRE serine/threonine-protein kinase CDC2L1; cell division cycle 2-like 1 (PITSLRE proteins); cell division protein kinase 11B; cyclin-dependent kinase 11B isoform 3; galactosyltransferase-associated protein kinase p58/GTA; p58 CLK-1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:984); (R-HSA-380270)",
"pathway_count": 2,
"publication_count": 80,
"publication_id_list": "10882096;11237011;11980906;12082095;12221128;12501247;12624090;14511641;15883043;16327805;1639388;16462731;16964243;17081983;17344846;18216018;18220336;18669648;19690332;20068231;21078675;21406692;2217177;23186163;23481700;24436071;25645385;25892735;25965346;26375851;27862975;27920218;29493099;29557506;30315122;30397120;30429286;30779550;31154438;31511426;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32367068;32387766;32488085;32938616;33298915;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34509645;35051231;35580925;36010968;36104565;36215666;36284347;36327972;36988771;37217939;37938771;38019613;38059508;40858114;40914422;41100585;7790358;8195233;9580558;9750192",
"class_list": "",
"function": "CDK10, CDK11, FOXO1, and FOXO3 Gene Expression in Alzheimer's Disease Encephalic Samples., [RefSeq, PubMed]; CDK11 facilitates centromeric transcription to maintain centromeric cohesion during mitosis., [RefSeq, PubMed]; Cyclin-dependent protein kinase that acts as a regulator of transcription and pre-mRNA splicing (PubMed:12501247, PubMed:18216018, PubMed:32367068, PubMed:36104565). Acts as a key regulator of pre-mRNA splicing by mediating phosphorylation of SF3B1, enabling the association between SF3B1 and U5 and U6 snRNAs in the activated spliceosome, thereby promoting spliceosome assembly (PubMed:36104565, PubMed:38059508). Also acts as a regulator of transcription by phosphorylating 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:32367068, PubMed:40858114). Involved in replication-dependent transcription of histone genes: binds to histone genes and phosphorylates POLR2A at 'Ser-2' of the CTD to specifically control transcriptional elongation of histones and recruitment of 3'-end processing factors (PubMed:32367068). Part of a transcription checkpoint upstream of CDK9, which regulates promoter-proximal pausing by RNA polymerase II, a transcription halt following transcription initiation, but prior to elongation (PubMed:40858114). Probably regulates promoter-proximal pausing by mediating phosphorylation of POLR2A at 'Ser-2' of the CTD (PubMed:40858114). Activated by the CDK-activating kinase (CAK) complex consisting of CDK7, cyclin-H/CCNH and MAT1, which is a master regulator of CDK activity (PubMed:41100585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Isoform expressed in a non-cell cycle-dependent manner., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Isoform specifically expressed during the G2-M phases of the cell cycle (PubMed:12082095, PubMed:2217177). Phosphorylates 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:38019613). Promotes centromeric transcription to maintain centromeric cohesion during mitosis (PubMed:24436071, PubMed:38019613)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Isoform specifically expressed during the G2-M phases of the cell cycle. Phosphorylates 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A. Promotes centromeric transcription to maintain centromeric cohesion during mitosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]",
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"secondary_ac_list": "B7ZVY7;J3KTL7;J3QR29;J3QR44;O95265;Q12817;Q12818;Q12819;Q12820;Q12822;Q8N530;Q9NZS5;Q9UBJ0;Q9UBQ1;Q9UBR0;Q9UNY2;Q9UP57;Q9UP58;Q9UP59",
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{
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{
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{
"id": "NP_001273185",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273185",
"type": "external"
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],
"gene_names_uniprotkb": "STAC3",
"gene_names_refseq": "CMYO13; CMYP13; MYPBB; NAM; STAC3",
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"protein_names_refseq": "SH3 and cysteine-rich domain-containing protein 3 isoform b; SH3 and cysteine-rich domain-containing protein 3",
"tax_id": 9606,
"disease": "congenital myopathy 13 (Disease Ontology:DOID:0060346)",
"pathway": " (hsa:246329)",
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"publication_id_list": "11237011;23736855;28777491;29078335;30779550;33409656;33691108;35051231;35580925;36010968;36030003;39894887",
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"function": "A mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy., [RefSeq, PubMed]; Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335)., [UniProtKB, PubMed, UniProtKB, PubMed]; STAC3 related congenital myopathy: A case series of seven Comorian patients., [RefSeq, PubMed]; Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing., [RefSeq, PubMed]; The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]., [RefSeq]",
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{
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{
"id": "NP_001338505",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338505",
"type": "external"
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],
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"gene_names_refseq": "C14orf53; CCDC196; LINC00238; NCRNA00238",
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"pathway": " (hsa:440184)",
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"function": "LINC00238 inhibits hepatic carcinoma progression by activating TMEM106Cmediated apoptosis pathway., [RefSeq, PubMed]",
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{
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{
"id": "CABP4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P57796",
"type": "external"
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],
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"length": 275,
"protein_name": "Calcium-binding protein 4",
"gene_name": "CABP4",
"organism": "Human",
"refseq_name": "calcium-binding protein 4 isoform b",
"refseq_ac": [
{
"id": "NP_001287824",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287824",
"type": "external"
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],
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"tax_id": 9606,
"disease": "cone-rod synaptic disorder, congenital nonprogressive (MONDO:MONDO:0012490)",
"pathway": " (hsa:57010)",
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"class_list": "",
"function": "CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities., [RefSeq, PubMed]; Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up., [RefSeq, PubMed]; In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene., [RefSeq, PubMed]; Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)., [UniProtKB]; This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0043195 terminal bouton;GO:0045202 synapse",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/P13805",
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],
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"protein_name": "Troponin T, slow skeletal muscle",
"gene_name": "TNNT1",
"organism": "Human",
"refseq_name": "troponin T, slow skeletal muscle isoform b",
"refseq_ac": [
{
"id": "NP_001119604",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604",
"type": "external"
}
],
"gene_names_uniprotkb": "TNNT1; TNT",
"gene_names_refseq": "ANM; NEM5; STNT; TNNT1; TNTS; TNT",
"protein_names_uniprotkb": "Troponin T, slow skeletal muscle; Slow skeletal muscle troponin T; TnTs; sTnT",
"protein_names_refseq": "slow skeletal muscle troponin T; troponin T type 1 (skeletal, slow); troponin T, slow skeletal muscle isoform b; troponin-T1, skeletal, slow",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); nemaline myopathy 5B (Disease Ontology:DOID:0081374); nemaline myopathy 5C (Disease Ontology:DOID:0081375); nemaline myopathy 5A (Disease Ontology:DOID:0110936); nemaline myopathy (Disease Ontology:DOID:3191)",
"pathway": " (hsa:7138); (R-HSA-390522)",
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"publication_id_list": "10191089;10747208;10952871;11237011;20418543;2824479;29178646;29493099;29557506;31154438;31844290;31848261;31970803;32157095;32938616;32994279;33592498;35165004;35510366;36871674;37217939;37632133;37938771;38853457;38973201;8135831;8403232",
"class_list": "",
"function": "Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma., [RefSeq, PubMed]; TNNT1 accelerates migration, invasion and EMT progression in lung cancer cells., [RefSeq, PubMed]; This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Troponin T1 in tumorigenesis and immune modulation: Insights into multiple cancers and kidney renal clear cell carcinoma., [RefSeq, PubMed]; WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0031014 troponin T binding;GO:0005523 tropomyosin binding;GO:0030172 troponin C binding;GO:0031013 troponin I binding",
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"go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0045214 sarcomere organization;GO:0031444 slow-twitch skeletal muscle fiber contraction;GO:0045932 negative regulation of muscle contraction;GO:0006937 regulation of muscle contraction",
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},
{
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"protein_name": "Transcription elongation factor SPT5",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490",
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],
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"gene_names_refseq": "SPT5H; SPT5; SUPT5H; Tat-CT1",
"protein_names_uniprotkb": "Transcription elongation factor SPT5; DRB sensitivity-inducing factor 160 kDa subunit; DRB sensitivity-inducing factor large subunit; DSIF large subunit; DSIF p160; Tat-CT1 protein; Tat-cotransactivator 1 protein; hSPT5",
"protein_names_refseq": "DRB sensitivity-inducing factor 160 kDa subunit; DRB sensitivity-inducing factor large subunit; DSIF large subunit; DSIF p160; Tat-cotransactivator 1 protein; hSPT5; suppressor of Ty 5 homolog; transcription elongation factor SPT5 isoform a; transcription elongation factor SPT5",
"tax_id": 9606,
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"pathway": " (hsa:6829); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-72086); (R-HSA-75955); (R-HSA-77075)",
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"function": "A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals. Review article, [RefSeq, PubMed]; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II (PubMed:10075709, PubMed:10199401, PubMed:10421630, PubMed:10757782, PubMed:10912001, PubMed:11112772, PubMed:11553615, PubMed:12653964, PubMed:12718890, PubMed:15136722, PubMed:15380072, PubMed:9450929, PubMed:9857195). DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A (PubMed:10075709, PubMed:10421630, PubMed:10757782, PubMed:10912001, PubMed:11112772, PubMed:11553615, PubMed:12653964, PubMed:12718890, PubMed:15136722, PubMed:15380072, PubMed:9450929, PubMed:9857195). DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter (PubMed:10075709, PubMed:10199401, PubMed:10757782, PubMed:10912001, PubMed:11112772, PubMed:11553615, PubMed:12653964, PubMed:12718890, PubMed:15136722, PubMed:15380072, PubMed:9450929, PubMed:9857195). Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex (PubMed:10075709, PubMed:10199401, PubMed:10421630, PubMed:10757782, PubMed:10912001, PubMed:11112772, PubMed:11553615, PubMed:12653964, PubMed:12718890, PubMed:15136722, PubMed:15380072, PubMed:9450929, PubMed:9857195). DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II (PubMed:16214896). TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme (PubMed:16214896). Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites (PubMed:16214896). Following phosphorylation by CDK9, DSIF can also positively regulate transcriptional elongation (PubMed:16427012). Required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat (PubMed:10393184, PubMed:10454543, PubMed:11809800, PubMed:9514752). DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences (PubMed:11112772, PubMed:14701750)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia. Review article Publication Status: Online-Only, [RefSeq, PubMed]; RBM22 regulates RNA polymerase II 5' pausing, elongation rate, and termination by coordinating 7SK-P-TEFb complex and SPT5. Publication Status: Online-Only, [RefSeq, PubMed]; ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters., [RefSeq, PubMed]",
"predicted_glycosites": 3,
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"biomarker_type": "",
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"glyco_site_count": 12,
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"secondary_ac_list": "O43279;Q59G52;Q99639",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity",
"go_cellular_component": "GO:0032044 DSIF complex;GO:0005634 nucleus;GO:0005654 nucleoplasm",
"go_biological_process": "GO:0032785 negative regulation of DNA-templated transcription, elongation;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016239 positive regulation of macroautophagy",
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},
{
"uniprot_canonical_ac": "P30279-1",
"uniprot_id": [
{
"id": "CCND2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P30279",
"type": "external"
}
],
"mass": 33067.0,
"length": 289,
"protein_name": "G1/S-specific cyclin-D2",
"gene_name": "CCND2",
"organism": "Human",
"refseq_name": "G1/S-specific cyclin-D2",
"refseq_ac": [
{
"id": "NP_001750",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001750",
"type": "external"
}
],
"gene_names_uniprotkb": "CCND2",
"gene_names_refseq": "CCND2; KIAK0002; MPPH3",
"protein_names_uniprotkb": "G1/S-specific cyclin-D2",
"protein_names_refseq": "G1/S-specific cyclin-D2",
"tax_id": 9606,
"disease": "colon adenoma (Disease Ontology:DOID:0050912); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); nephritis (Disease Ontology:DOID:10952); polycystic ovary syndrome (Disease Ontology:DOID:11612); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); impotence (Disease Ontology:DOID:1875); hepatitis B (Disease Ontology:DOID:2043); nephroblastoma (Disease Ontology:DOID:2154); colon cancer (Disease Ontology:DOID:219); transitional cell carcinoma (Disease Ontology:DOID:2671); granulosa cell tumor (Disease Ontology:DOID:2999); germinoma (Disease Ontology:DOID:3304); invasive lobular carcinoma (Disease Ontology:DOID:3457); liver cancer (Disease Ontology:DOID:3571); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); seminoma (Disease Ontology:DOID:4440); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); multiple myeloma (Disease Ontology:DOID:9538); megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MONDO:MONDO:0014408)",
"pathway": " (hsa:894); (R-HSA-69205); (R-HSA-69231); (R-HSA-8934593); (R-HSA-9661069); (R-HSA-9754119)",
"pathway_count": 6,
"publication_count": 207,
"publication_id_list": "10207050;10228158;10380706;10385618;10454584;10499802;10597240;10692433;10831586;10856244;10973815;11032757;11073976;11157749;11231573;11237011;11416152;11719808;11884610;11959842;11988738;12172539;12435635;12444543;12747775;12782299;1386335;1386336;1423597;14517297;14597415;14990995;15014447;15331439;15469821;15510213;15542782;15579463;16195327;16287839;16476733;16782892;17092340;17121911;17237358;17254966;17254967;17363486;17431401;17486076;17589498;17873913;17908796;1826560;1828392;1828393;1828394;18414028;18446792;18710949;18827403;19075005;19114653;19458076;19487459;20107323;20663872;20843055;20952511;21423214;21715330;22323446;22424782;22544926;22759635;23007395;23186163;23481700;23622515;23737759;23807770;24366607;24388988;24515438;24705253;24714562;24715725;24876129;24919854;25418920;25452107;25486476;25502872;25562167;25576301;25733683;25880248;26154972;26375851;26606677;26716895;26728094;26749280;26826116;26992070;27146121;27496135;27843138;27846572;27862975;27920218;28218747;28228285;28418845;28446606;28578693;28607489;28643014;28832583;28904123;29242379;29269870;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30234987;30315122;30524438;30711375;30724426;30779550;31092671;31154438;31217245;31530632;31543423;31831640;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32502341;32897882;32983136;33068248;33141586;33298915;33691108;33717175;33854235;33854239;33936100;33968037;34110834;34171305;34185709;34211107;34405274;34932366;35051231;35318648;35580925;36241641;36284347;36581221;37866807;37938771;38372094;38862457;7623816;7797074;7929342;7954814;8114698;8114739;8139570;8246996;8288595;8336704;8386878;8413249;8455931;8497257;8618861;8674031;8943353;9020173;9042862;9106657;9144196;9190208;9325318;9342358;9447971;9448290;9508775;9520412;9662327;9778043",
"class_list": "",
"function": "GABA regulates the proliferation and apoptosis of head and neck squamous cell carcinoma cells by promoting the expression of CCND2 and BCL2L1., [RefSeq, PubMed]; Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition (PubMed:18827403, PubMed:8114739). Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase (PubMed:18827403, PubMed:8114739). Hypophosphorylates RB1 in early G(1) phase (PubMed:18827403, PubMed:8114739). Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals (PubMed:18827403, PubMed:8114739)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]., [RefSeq]; Up-regulation of lncRNA WT1-AS ameliorates Abeta-stimulated neuronal injury through modulation of miR-186-5p/CCND2 axis in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; [Bioinformatic analysis of CCND2 expression in papillary thyroid carcinoma and its impact on immune infiltration]., [RefSeq, PubMed]",
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"missing_score": 10000,
"biomarker_type": "prognostic",
"glycan_count": 0,
"disease_count": 29,
"glyco_site_count": 0,
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"secondary_ac_list": "A8K531;Q13955;Q5U035",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0051301 cell division;GO:0000082 G1/S transition of mitotic cell cycle;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle",
"synthesized_glycan_count": 0,
"hit_score": 20.8,
"record_id": "P30279-1",
"record_type": "protein",
"filter_code": "0001000.1000111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q7Z6B0-1",
"uniprot_id": [
{
"id": "CCD91_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z6B0",
"type": "external"
}
],
"mass": 49971.0,
"length": 441,
"protein_name": "Coiled-coil domain-containing protein 91",
"gene_name": "CCDC91",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 91 isoform 2",
"refseq_ac": [
{
"id": "NP_001317296",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317296",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC91; GGABP; HSD8",
"gene_names_refseq": "CCDC91; HSD8; p56",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 91; GGA-binding partner; p56 accessory protein",
"protein_names_refseq": "GGA-binding partner; coiled-coil domain-containing protein 91 isoform 2; coiled-coil domain-containing protein 91; p56 accessory protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55297)",
"pathway_count": 1,
"publication_count": 36,
"publication_id_list": "11237011;12808037;12858163;17596511;20068231;20808825;24715725;25645385;26992070;27600516;27846572;27920218;28063628;28228285;28832583;29242379;29331515;29493099;29557506;29632046;30429286;31530632;31844290;31848261;31937595;32157095;32387766;32488085;32502341;32938616;33392160;33968037;36010968;36990086;37938771;38627542",
"class_list": "",
"function": "A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis., [RefSeq, PubMed]; A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes., [RefSeq, PubMed]; Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; P56 tightly cooperates with the GGAs in the sorting of cathepsin D to lysosomes, probably by enabling the movement of GGA-containing transport carriers., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "B3KSA3;C9JR07;Q68D43;Q6IA78;Q8NEN7;Q9NUW9",
"ec_number_list": [],
"go_molecular_function": "GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005802 trans-Golgi network",
"go_biological_process": "GO:0015031 protein transport;GO:0090160 Golgi to lysosome transport;GO:0048193 Golgi vesicle transport",
"synthesized_glycan_count": 0,
"hit_score": 3.7,
"record_id": "Q7Z6B0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8WWB3-1",
"uniprot_id": [
{
"id": "DYDC1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WWB3",
"type": "external"
}
],
"mass": 20893.0,
"length": 177,
"protein_name": "DPY30 domain-containing protein 1",
"gene_name": "DYDC1",
"organism": "Human",
"refseq_name": "DPY30 domain-containing protein 1 isoform a",
"refseq_ac": [
{
"id": "NP_001255982",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001255982",
"type": "external"
}
],
"gene_names_uniprotkb": "DYDC1; DPY30D1; RSD-9; RSD9",
"gene_names_refseq": "DPY30D1; DYDC1",
"protein_names_uniprotkb": "DPY30 domain-containing protein 1",
"protein_names_refseq": "DPY30 domain-containing protein 1 isoform a; DPY30 domain-containing protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:143241)",
"pathway_count": 1,
"publication_count": 3,
"publication_id_list": "11237011;19545932;39894887",
"class_list": "",
"function": "Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Plays a crucial role during acrosome biogenesis (PubMed:19545932)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]",
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"secondary_ac_list": "A8K927;Q5QP03;Q5QP04;Q6WNP4;Q6ZU87",
"ec_number_list": [],
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"go_cellular_component": "GO:0001534 radial spoke;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0048188 Set1C/COMPASS complex",
"go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement",
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},
{
"uniprot_canonical_ac": "Q15811-1",
"uniprot_id": [
{
"id": "ITSN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15811",
"type": "external"
}
],
"mass": 195422.0,
"length": 1721,
"protein_name": "Intersectin-1",
"gene_name": "ITSN1",
"organism": "Human",
"refseq_name": "intersectin-1 isoform ITSN-s",
"refseq_ac": [
{
"id": "NP_001001132",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001132",
"type": "external"
}
],
"gene_names_uniprotkb": "ITSN1; ITSN; SH3D1A",
"gene_names_refseq": "ITSN1; ITSN; SH3D1A; SH3P17",
"protein_names_uniprotkb": "Intersectin-1; SH3 domain-containing protein 1A; SH3P17",
"protein_names_refseq": "SH3 domain-containing protein 1A; Src homology 3 domain-containing protein; human intersectin-SH3 domain-containing protein SH3P17; intersectin 1 (SH3 domain protein); intersectin-1 isoform ITSN-s",
"tax_id": 9606,
"disease": "intellectual disability (Disease Ontology:DOID:1059)",
"pathway": " (hsa:6453); (R-HSA-193648); (R-HSA-3928662); (R-HSA-416482); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-9013408)",
"pathway_count": 9,
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"class_list": "",
"function": "Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Plays a role in synaptic vesicle endocytosis in brain neurons., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A7Y322;A8CTX8;A8CTY3;A8CTY7;A8D7D0;A8DCP3;B4DTM2;E7ERJ1;E9PE44;E9PG01;E9PHV2;O95216;Q0PW94;Q0PW95;Q0PW97;Q14BD3;Q1ED40;Q20BK3;Q9UET5;Q9UK60;Q9UNK1;Q9UNK2;Q9UQ92",
"ec_number_list": [],
"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0070064 proline-rich region binding;GO:0005085 guanyl-nucleotide exchange factor activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0097708 intracellular vesicle;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm",
"go_biological_process": "GO:2001288 positive regulation of caveolin-mediated endocytosis;GO:0015031 protein transport;GO:0035556 intracellular signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0016197 endosomal transport",
"synthesized_glycan_count": 0,
"hit_score": 51.9,
"record_id": "Q15811-1",
"record_type": "protein",
"filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P51636-1",
"uniprot_id": [
{
"id": "CAV2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51636",
"type": "external"
}
],
"mass": 18291.0,
"length": 162,
"protein_name": "Caveolin-2",
"gene_name": "CAV2",
"organism": "Human",
"refseq_name": "caveolin-2 isoform b",
"refseq_ac": [
{
"id": "NP_001193676",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193676",
"type": "external"
}
],
"gene_names_uniprotkb": "CAV2",
"gene_names_refseq": "CAV2; CAV",
"protein_names_uniprotkb": "Caveolin-2",
"protein_names_refseq": "caveolae protein, 20-kD; caveolin-2 isoform b",
"tax_id": 9606,
"disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); primary open angle glaucoma (Disease Ontology:DOID:1070); low tension glaucoma (Disease Ontology:DOID:13544); high grade glioma (Disease Ontology:DOID:3070); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:858); (R-HSA-9009391)",
"pathway_count": 2,
"publication_count": 117,
"publication_id_list": "10218480;10319328;10427092;10749889;10806474;11029009;11029403;11043579;11044445;11185956;11237011;11369763;11689445;11773442;11773443;11825873;11981029;12048194;12091389;12388769;12421825;12431978;12511868;12588983;12682286;12743374;12808053;12881510;1378832;14764897;15033483;15044318;15090535;15231873;15314172;15467163;15496458;15504032;15569929;15657067;15705661;15956360;16239258;16274718;16636149;16645038;16835357;17037979;17081983;17424910;17525128;17535799;17916740;17921256;18081315;18206197;18657504;18669648;19138696;19427337;19778377;19879889;20068231;20166139;20439495;20455999;20650261;20861220;21680538;21851428;22028449;22031296;22266855;22446104;24039841;24530924;25576301;25587652;25667086;25753664;27288742;27600516;27846572;27862975;28539435;29393594;29557506;29738483;29769354;30429286;30779550;31154438;31844290;31848261;32157095;32938616;33975060;33981976;34078402;34509645;35051231;35580925;36215666;36284347;36499524;37938771;7526779;7750475;8552590;8782602;8876252;9173876;9361015;9395517;9565625;9616126;9738464",
"class_list": "",
"function": "A genetic variant conferred high expression of CAV2 promotes pancreatic cancer progression and associates with poor prognosis., [RefSeq, PubMed]; Biochemical and Biophysical Characterization of the Caveolin-2 Interaction with Membranes and Analysis of the Protein Structural Alteration by the Presence of Cholesterol. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a scaffolding protein within caveolar membranes. Interacts directly with G protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity)., [UniProtKB, PubMed, PubMed]; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression., [UniProtKB, UniProtKB]; The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]., [RefSeq]",
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"secondary_ac_list": "A4D0U2;Q9UGM7",
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"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005925 focal adhesion",
"go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0030154 cell differentiation;GO:0043410 positive regulation of MAPK cascade;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0048741 skeletal muscle fiber development",
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"record_id": "P51636-1",
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},
{
"uniprot_canonical_ac": "P07384-1",
"uniprot_id": [
{
"id": "CAN1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P07384",
"type": "external"
}
],
"mass": 81890.0,
"length": 714,
"protein_name": "Calpain-1 catalytic subunit",
"gene_name": "CAPN1",
"organism": "Human",
"refseq_name": "calpain-1 catalytic subunit",
"refseq_ac": [
{
"id": "NP_001185797",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185797",
"type": "external"
}
],
"gene_names_uniprotkb": "CAPN1; CANPL1; PIG30",
"gene_names_refseq": "CANP1; CANPL1; CANP; CAPN1; SPG76; muCANP; muCL",
"protein_names_uniprotkb": "Calpain-1 catalytic subunit; 3.4.22.52; CANP 1; Calcium-activated neutral proteinase 1; Calpain mu-type; Calpain-1 large subunit; Cell proliferation-inducing gene 30 protein; Micromolar-calpain; muCANP",
"protein_names_refseq": "CANP 1; calcium-activated neutral proteinase 1; calpain 1, (mu/I) large subunit; calpain mu-type; calpain, large polypeptide L1; calpain-1 catalytic subunit; calpain-1 large subunit; cell proliferation-inducing gene 30 protein; cell proliferation-inducing protein 30; micromolar-calpain",
"tax_id": 9606,
"disease": "traumatic brain injury (Disease Ontology:DOID:0081292); hereditary spastic paraplegia 76 (Disease Ontology:DOID:0110821); aortic atherosclerosis (Disease Ontology:DOID:10230); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); epilepsy (Disease Ontology:DOID:1826); hereditary spastic paraplegia (Disease Ontology:DOID:2476); acute kidney failure (Disease Ontology:DOID:3021); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:823); (R-HSA-1474228); (R-HSA-6798695); (R-HSA-6809371); (R-HSA-8862803)",
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],
"go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0005509 calcium ion binding;GO:0008233 peptidase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "GO:0098989 NMDA selective glutamate receptor signaling pathway;GO:0006508 proteolysis;GO:0008284 positive regulation of cell population proliferation;GO:0016241 regulation of macroautophagy;GO:0050790 regulation of catalytic activity",
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},
{
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{
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],
"mass": 65102.0,
"length": 583,
"protein_name": "CD166 antigen",
"gene_name": "ALCAM",
"organism": "Human",
"refseq_name": "CD166 antigen isoform 2 precursor",
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{
"id": "NP_001230209",
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],
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"gene_names_refseq": "ALCAM; CD166; MEMD",
"protein_names_uniprotkb": "CD166 antigen; Activated leukocyte cell adhesion molecule",
"protein_names_refseq": "CD166 antigen isoform 2 precursor; CD166 antigen",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:214); (R-HSA-373760)",
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"class_list": "",
"function": "ALCAM on human oligodendrocytes mediates CD4 T cell adhesion., [RefSeq, PubMed]; ALCAM-mediated cDC1 CD8 T cells interactions are suppressed in advanced lung tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts (PubMed:15048703, PubMed:15496415, PubMed:16352806, PubMed:23169771, PubMed:24945728, PubMed:7760007). Promotes T-cell activation and proliferation via its interactions with CD6 (PubMed:15048703, PubMed:16352806, PubMed:24945728). Contributes to the formation and maturation of the immunological synapse via its interactions with CD6 (PubMed:15294938, PubMed:16352806). Mediates homotypic interactions with cells that express ALCAM (PubMed:15496415, PubMed:16352806). Acts as a ligand for the LILRB4 receptor, enhancing LILRB4-mediated inhibition of T cell proliferation (PubMed:29263213). Required for normal hematopoietic stem cell engraftment in the bone marrow (PubMed:24740813). Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction (PubMed:23169771). Inhibits endothelial cell migration and promotes endothelial tube formation via homotypic interactions (PubMed:15496415, PubMed:23169771). Required for normal organization of the lymph vessel network. Required for normal hematopoietic stem cell engraftment in the bone marrow. Plays a role in hematopoiesis; required for normal numbers of hematopoietic stem cells in bone marrow. Promotes in vitro osteoblast proliferation and differentiation (By similarity). Promotes neurite extension, axon growth and axon guidance; axons grow preferentially on surfaces that contain ALCAM. Mediates outgrowth and pathfinding for retinal ganglion cell axons (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical significance of CD166 and HER-2 in different types of gastric cancer., [RefSeq, PubMed]; Inhibits activities of membrane-bound isoforms by competing for the same interaction partners. Inhibits cell attachment via homotypic interactions. Promotes endothelial cell migration. Inhibits endothelial cell tube formation., [UniProtKB, PubMed]; Polymorphisms in the CD6-ALCAM axis may modulate psoriasis risk and outcomes., [RefSeq, PubMed]; This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]., [RefSeq]",
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"biomarker_type": "prognostic",
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"secondary_ac_list": "B2RNS3;B4DTU0;O60892;Q1HGM8;Q1HGM9;Q6PEY4;Q6ZS95",
"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body",
"go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0002250 adaptive immune response;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules",
"synthesized_glycan_count": 0,
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"record_id": "Q13740-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5VWN6-1",
"uniprot_id": [
{
"id": "TASO2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5VWN6",
"type": "external"
}
],
"mass": 268843.0,
"length": 2430,
"protein_name": "Protein TASOR 2",
"gene_name": "TASOR2",
"organism": "Human",
"refseq_name": "protein TASOR 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001308714",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308714",
"type": "external"
}
],
"gene_names_uniprotkb": "TASOR2; C10orf18; FAM208B; KIAA2006",
"gene_names_refseq": "C10orf18; FAM208B; TASOR2; bA318E3.2",
"protein_names_uniprotkb": "Protein TASOR 2",
"protein_names_refseq": "family with sequence similarity 208 member B; protein FAM208B; protein TASOR 2 isoform 2; protein TASOR 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:54906)",
"pathway_count": 1,
"publication_count": 101,
"publication_id_list": "11237011;18669648;19615748;20068231;22898188;23186163;23481700;24275569;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29786170;29789417;30315122;30379171;30524438;30620550;31217245;31492838;31844290;32157095;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;37217939;37340703;37541260;37938771;38665916;39013473;39489739;39531497;40307207;40596516",
"class_list": "",
"function": "Core component of the HUSH2 complex, a multiprotein complex that mediates epigenetic repression of interferon-stimulated genes (PubMed:39013473, PubMed:39489739). TASOR2 is recruited to interferon-stimulated genes by IRF2, leading to transcriptional silencing by the HUSH2 complex via a H3K9me3-independent mechanism (PubMed:39013473). Within the HUSH2 complex, TASOR2 acts as the central scaffold, which recruits MPHOSPH8 and PPHLN1 (PubMed:39013473)., [UniProtKB, PubMed, PubMed]",
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"secondary_ac_list": "Q2YD91;Q5VWN5;Q6ZRQ8;Q8IVG4;Q9BUZ7;Q9H5J9;Q9H7A4;Q9H996;Q9NXA1",
"ec_number_list": [],
"go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0140286 HUSH2 complex",
"go_biological_process": "GO:0045814 negative regulation of gene expression, epigenetic;GO:0032480 negative regulation of type I interferon production",
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"record_id": "Q5VWN6-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P55085-1",
"uniprot_id": [
{
"id": "PAR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P55085",
"type": "external"
}
],
"mass": 44126.0,
"length": 397,
"protein_name": "Proteinase-activated receptor 2",
"gene_name": "F2RL1",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "F2RL1; GPR11; PAR2",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Proteinase-activated receptor 2; Coagulation factor II receptor-like 1; G protein-coupled receptor 11; PAR-2; Thrombin receptor-like 1",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "respiratory allergy (Disease Ontology:DOID:0060496); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); Noonan syndrome (Disease Ontology:DOID:3490); lung disease (Disease Ontology:DOID:850)",
"pathway": " (hsa:2150); (R-HSA-375276); (R-HSA-416476)",
"pathway_count": 3,
"publication_count": 181,
"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10079109;10086357;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10725339;10727532;10788464;10805786;10831593;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11413129;11441110;11447194;11457843;11562423;11683476;11714832;11742120;11753430;11773063;11859856;12120503;12171601;12427552;12540846;12594060;12719537;1280419;12832443;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14519665;14550283;14573733;14607272;15139756;15155775;15539556;1567413;15708858;15879675;15919826;15947423;15951850;16182515;16268778;16339447;16359518;16410250;16476770;16478888;1655761;16714334;16754659;16923326;1710450;1710578;1719979;1722333;17404307;17500066;17693410;18127230;18424071;18434511;18434541;18453611;18474671;1847994;18515384;18577758;18622013;18936096;1905813;19413330;19494303;19684015;19781631;19815543;19864598;19865078;20530726;20584806;20826780;21501162;21627585;22409427;23202369;23446738;23584533;23690594;24906252;25813380;2649896;26600192;26928551;27496565;2841328;28445455;30683917;3086311;3202875;32938616;33592498;3366244;33968037;3525564;35881628;36010968;37217939;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7556175;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8784787;8823230;9020112;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594",
"class_list": "",
"function": "Receptor for trypsin and trypsin-like enzymes coupled to G proteins (PubMed:28445455). Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho (PubMed:28445455). Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergistically with TLR4 and probably TLR2 in inflammatory responses and modulates TLR3 signaling. Has a protective role in establishing the endothelial barrier; the activity involves coagulation factor X. Regulates endothelial cell barrier integrity during neutrophil extravasation, probably following proteolytic cleavage by PRTN3 (PubMed:23202369). Proposed to have a bronchoprotective role in airway epithelium, but also shown to compromise the airway epithelial barrier by interrupting E-cadherin adhesion (PubMed:10086357). Involved in the regulation of vascular tone; activation results in hypotension presumably mediated by vasodilation. Associates with a subset of G proteins alpha subunits such as GNAQ, GNA11, GNA14, GNA12 and GNA13, but probably not with G(o)-alpha, G(i) subunit alpha-1 and G(i) subunit alpha-2. However, according to PubMed:21627585 can signal through G(i) subunit alpha. Believed to be a class B receptor which internalizes as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptor, for extended periods of time. Mediates inhibition of TNF stimulated JNK phosphorylation via coupling to GNAQ and GNA11; the function involves dissociation of RIPK1 and TRADD from TNFR1. Mediates phosphorylation of nuclear factor NF-kappa-B RELA subunit at 'Ser-536'; the function involves IKBKB and is predominantly independent of G proteins. Involved in cellular migration. Involved in cytoskeletal rearrangement and chemotaxis through beta-arrestin-promoted scaffolds; the function is independent of GNAQ and GNA11 and involves promotion of cofilin dephosphorylation and actin filament severing. Induces redistribution of COPS5 from the plasma membrane to the cytosol and activation of the JNK cascade is mediated by COPS5. Involved in the recruitment of leukocytes to the sites of inflammation and is the major PAR receptor capable of modulating eosinophil function such as pro-inflammatory cytokine secretion, superoxide production and degranulation. During inflammation promotes dendritic cell maturation, trafficking to the lymph nodes and subsequent T-cell activation. Involved in antimicrobial response of innate immune cells; activation enhances phagocytosis of Gram-positive and killing of Gram-negative bacteria. Acts synergistically with interferon-gamma in enhancing antiviral responses. Implicated in a number of acute and chronic inflammatory diseases such as of the joints, lungs, brain, gastrointestinal tract, periodontium, skin, and vascular systems, and in autoimmune disorders. Probably mediates activation of pro-inflammatory and pro-fibrotic responses in fibroblasts, triggered by coagulation factor Xa (F10) (By similarity). Mediates activation of barrier protective signaling responses in endothelial cells, triggered by coagulation factor Xa (F10) (PubMed:22409427)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]",
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"secondary_ac_list": "Q13317;Q13346;Q53XJ8",
"ec_number_list": [],
"go_molecular_function": "GO:0015057 thrombin-activated receptor activity;GO:0031681 G-protein beta-subunit binding;GO:0002020 protease binding;GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding",
"go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0031143 pseudopodium;GO:0016020 membrane",
"go_biological_process": "GO:0034141 positive regulation of toll-like receptor 3 signaling pathway;GO:0061028 establishment of endothelial barrier;GO:1900135 positive regulation of renin secretion into blood stream;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 19.5,
"record_id": "P55085-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O60895-1",
"uniprot_id": [
{
"id": "RAMP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/O60895",
"type": "external"
}
],
"mass": 19608.0,
"length": 175,
"protein_name": "Receptor activity-modifying protein 2",
"gene_name": "RAMP2",
"organism": "Human",
"refseq_name": "receptor activity-modifying protein 2 precursor",
"refseq_ac": [
{
"id": "NP_005845",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005845",
"type": "external"
}
],
"gene_names_uniprotkb": "RAMP2",
"gene_names_refseq": "RAMP2",
"protein_names_uniprotkb": "Receptor activity-modifying protein 2; CRLR activity-modifying protein 2; Calcitonin-receptor-like receptor activity-modifying protein 2",
"protein_names_refseq": "CRLR activity-modifying protein 2; calcitonin receptor-like receptor activity modifying protein 2; receptor (G protein-coupled) activity modifying protein 2; receptor (calcitonin) activity modifying protein 2; receptor activity-modifying protein 2 precursor",
"tax_id": 9606,
"disease": "hypertension (Disease Ontology:DOID:10763); adult respiratory distress syndrome (Disease Ontology:DOID:11394); kidney disease (Disease Ontology:DOID:557); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256)",
"pathway": " (hsa:10266); (R-HSA-418555); (R-HSA-419812); (R-HSA-9856530)",
"pathway_count": 4,
"publication_count": 130,
"publication_id_list": "10217420;10376603;10639123;10649434;10764742;11007482;11237011;11693189;11853546;11968001;12036966;12058044;12106601;12176338;12180353;12724311;12860470;1331173;13549488;14615490;14671004;14722252;1517224;15304325;15718470;15765929;15769620;15951850;16313925;16687412;16780920;16923326;17074750;17168849;17665333;18044684;18577758;18710921;19020623;19105585;19723632;19876791;19929708;20381629;20573757;21036126;2163110;2177866;22102369;23153230;23481700;24169554;2417744;24687066;2491850;25297013;2553411;2553705;25645385;2608057;26417854;26432182;26559125;26992070;27566546;27600516;27797339;27862975;2871555;29171818;29242379;29255900;29443750;29557506;29602314;29786170;29789417;2985435;30115739;30429286;30833991;31154438;31205027;3127824;31279028;31311674;31399091;31556018;31800988;31848261;31983287;32145209;32157095;32226383;32266704;32296767;32387766;32497535;32540603;32618402;32636324;32715661;32851644;32938616;33049737;33385343;33936100;34171305;34271220;34499618;34509645;35051231;35324283;35580925;38279501;6085243;6148938;6609312;7876172;8340388;8387282;8514797;8626685;8672451;8700127;9212325;9263355;9417641;9620797;9651336",
"class_list": "",
"function": "Accessory protein that interacts with and modulates the function of G protein-coupled receptors including calcitonin gene-related peptide type 1 receptor (CALCRL) and calcitonin receptor (CALCR) (PubMed:9620797). Required for the transport of CALCRL to the plasma membrane (PubMed:9620797). Together with CALCRL, form a receptor complex for adrenomedullin/ADM (PubMed:22102369, PubMed:32296767, PubMed:9620797). Together with CALCR, act as a receptor complex for calcitonin/CT/CALC (PubMed:35324283). Together with CALCR, also act as a receptor complex for amylin/IAPP (PubMed:35324283)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Accessory protein that interacts with and modulates the function of G-protein coupled receptors including calcitonin gene-related peptide type 1 receptor (CALCRL) and calcitonin receptor (CALCR). Required for the transport of CALCRL to the plasma membrane. Together with CALCRL, form a receptor complex for adrenomedullin/ADM. Together with CALCR, act as a receptor complex for calcitonin/CT/CALC. Together with CALCR, also act as a receptor complex for amylin/IAPP., [UniProtKB, UniProtKB]; Adrenomedullin-Receptor Activity-Modifying Protein 2 System Ameliorates Subretinal Fibrosis by Suppressing Epithelial-Mesenchymal Transition in Age-Related Macular Degeneration., [RefSeq, PubMed]; RAMP2-AS1 stabilized RAPM2 mRNA through TIA1 to inhibit the progression of non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor Activity-Modifying Protein 2 (RAMP2) alters glucagon receptor trafficking in hepatocytes with functional effects on receptor signalling., [RefSeq, PubMed]; The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A7L9S6;K7EMD3;Q8N1F2",
"ec_number_list": [],
"go_molecular_function": "GO:0015026 coreceptor activity;GO:0001605 adrenomedullin receptor activity;GO:1990409 adrenomedullin binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0009986 cell surface;GO:0043235 receptor complex",
"go_biological_process": "GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0006886 intracellular protein transport;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway",
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"record_id": "O60895-1",
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},
{
"uniprot_canonical_ac": "Q9HAN9-1",
"uniprot_id": [
{
"id": "NMNA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HAN9",
"type": "external"
}
],
"mass": 31932.0,
"length": 279,
"protein_name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
"gene_name": "NMNAT1",
"organism": "Human",
"refseq_name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001284707",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284707",
"type": "external"
}
],
"gene_names_uniprotkb": "NMNAT1; NMNAT",
"gene_names_refseq": "LCA9; NMNAT1; NMNAT; PNAT1; SHILCA",
"protein_names_uniprotkb": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; 2.7.7.18; 2.7.7.1; NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NaMN adenylyltransferase 1; Nicotinamide-nucleotide adenylyltransferase 1; Nicotinate-nucleotide adenylyltransferase 1",
"protein_names_refseq": "NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NaMN adenylyltransferase 1; nicotinamide mononucleotide adenylyltransferase 1; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; nicotinate-nucleotide adenylyltransferase 1; pyridine nucleotide adenylyltransferase 1",
"tax_id": 9606,
"disease": "Leber congenital amaurosis 9 (Disease Ontology:DOID:0110005); spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis (Disease Ontology:DOID:0112290); sciatic neuropathy (Disease Ontology:DOID:11446); neurodegenerative disease (Disease Ontology:DOID:1289); retinal degeneration (Disease Ontology:DOID:8466)",
"pathway": " (hsa:64802); (R-HSA-196807)",
"pathway_count": 2,
"publication_count": 92,
"publication_id_list": "10331643;10613898;11027696;11237011;11248244;11594753;11751893;11788603;11866528;11891043;11959140;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17081983;17322306;17402747;17604275;17641676;17868694;17914902;18411268;19413330;19531469;20068231;20166139;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;22842227;22842229;22842230;22842231;23186163;23212377;23230272;24275569;24715725;24717514;24847004;25531177;25576301;26992070;27257257;27846572;27920218;28514659;28832583;29242379;29557506;30379171;30429286;31844290;32157095;32488085;32533184;32897882;32906142;32938616;33087354;33633747;33912179;34561969;34932366;35051231;35580925;38467179;39446354;4349867;8182091;8289818;8527488;8575745;8809081;9473669",
"class_list": "",
"function": "Analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases, [RefSeq, PubMed]; By using a combination of single isomorphous replacement and density modification techniques, the human NMNAT structure was solved by x-ray crystallography to a 2.5-A resolution, revealing a hexamer that is composed of alpha/beta-topology subunits, [RefSeq, PubMed]; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:17402747). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Also acts as a cofactor for glutamate and aspartate ADP-ribosylation by directing PARP1 catalytic activity to glutamate and aspartate residues on histones (By similarity). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity). Neural protection does not correlate with cellular NAD(+) levels but may still require enzyme activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Lactate enhances NMNAT1 lactylation to sustain nuclear NAD[+] salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions., [RefSeq, PubMed]; NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage., [RefSeq, PubMed]; This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
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"reported_phosphosites": 3,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 5,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B1AN63;Q8TAE9;Q9H247;Q9H6B6",
"ec_number_list": [
{
"id": "2.5.1.25",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.25",
"type": "external"
},
{
"id": "2.7.7.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.1",
"type": "external"
},
{
"id": "2.7.7.18",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.18",
"type": "external"
}
],
"go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004515 nicotinate-nucleotide adenylyltransferase activity;GO:0000309 nicotinamide-nucleotide adenylyltransferase activity;GO:0140768 protein ADP-ribosyltransferase-substrate adaptor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin",
"go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:1990966 ATP generation from poly-ADP-D-ribose;GO:0009165 nucleotide biosynthetic process;GO:0034355 NAD+ biosynthetic process via the salvage pathway",
"synthesized_glycan_count": 0,
"hit_score": 9.5,
"record_id": "Q9HAN9-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9HC96-1",
"uniprot_id": [
{
"id": "CAN10_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HC96",
"type": "external"
}
],
"mass": 74952.0,
"length": 672,
"protein_name": "Calpain-10",
"gene_name": "CAPN10",
"organism": "Human",
"refseq_name": "calpain-10 isoform a",
"refseq_ac": [
{
"id": "NP_075571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_075571",
"type": "external"
}
],
"gene_names_uniprotkb": "CAPN10; KIAA1845",
"gene_names_refseq": "CANP10; CAPN10; NIDDM1",
"protein_names_uniprotkb": "Calpain-10; 3.4.22.-; CANP 10; Calcium-activated neutral proteinase 10",
"protein_names_refseq": "calcium-activated neutral proteinase 10; calpain-10 isoform a; calpain-like protease CAPN10",
"tax_id": 9606,
"disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612); pancreatic cancer (Disease Ontology:DOID:1793); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:11132); (R-HSA-1474228)",
"pathway_count": 2,
"publication_count": 68,
"publication_id_list": "10229672;10386589;10706100;10809722;10986281;11017071;11237011;11375993;11872628;12727852;12843408;14759258;14973287;15234972;15471947;15591058;15862281;15958533;16028216;16133547;1649600;16631740;16721485;16825321;16959974;1698775;1707285;17332331;17354228;17572128;17608959;18434311;18452715;18658137;19010778;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23845380;28904123;29493099;29557506;31844290;32161166;32357974;33968037;35051231;38166877;38213994;38253038;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107",
"class_list": "",
"function": "An isoform of calpain-10 is a Ca2+-sensor that functions to trigger exocytosis in pancreatic beta-cells, [RefSeq, PubMed]; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Calpain 10 is a molecule of importance to insulin signaling and secretion that may have relevance to the future development of novel therapeutic targets for the treatment of T2D[review] Review article, [RefSeq, PubMed]; Calpain-10 may require a special intracellular localization or interacting partner(s) to acquire proteolytic activity, [RefSeq, PubMed]; Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]., [RefSeq]; Correlation between TCF7L2 and CAPN10 gene polymorphisms and gestational diabetes mellitus in different geographical regions: a meta-analysis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Molecular role of non-exonic variants in CALPAIN 10 gene in polycystic ovarian syndrome in Saudi women. Publication Status: Online-Only, [RefSeq, PubMed]; Studies confirm calpain 10 expression in cultured muscle cells and support calpains in insulin-stimulated glucose uptake in human skeletal muscle cells that may be relevant to the pathogenesis of the peripheral insulin resistance in type 2 diabetes., [RefSeq, PubMed]",
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"secondary_ac_list": "A8MVS7;Q4ZFV1;Q8NCD4;Q96IG4;Q96JI2;Q9HC89;Q9HC90;Q9HC91;Q9HC92;Q9HC93;Q9HC94;Q9HC95",
"ec_number_list": [
{
"id": "3.4.22.53",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.53",
"type": "external"
},
{
"id": "3.4.22.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-",
"type": "external"
},
{
"id": "3.4.22.52",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52",
"type": "external"
},
{
"id": "3.4.22.54",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.54",
"type": "external"
}
],
"go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0008092 cytoskeletal protein binding;GO:0000149 SNARE binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0032024 positive regulation of insulin secretion;GO:0032869 cellular response to insulin stimulus;GO:0032956 regulation of actin cytoskeleton organization;GO:0046326 positive regulation of D-glucose import",
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"record_id": "Q9HC96-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H3K6-1",
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{
"id": "BOLA2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H3K6",
"type": "external"
}
],
"mass": 10117.0,
"length": 86,
"protein_name": "BolA-like protein 2",
"gene_name": "BOLA2-SMG1P6; BOLA2B; BOLA2",
"organism": "Human",
"refseq_name": "bolA-like protein 2 isoform 2",
"refseq_ac": [
{
"id": "NP_001307508",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307508",
"type": "external"
}
],
"gene_names_uniprotkb": "BOLA2-SMG1P6; BOLA2B; BOLA2; BOLA2-SMG1P6; BOLA2A; BOLA2B; My016",
"gene_names_refseq": "BOLA2A; BOLA2; My016",
"protein_names_uniprotkb": "BolA-like protein 2",
"protein_names_refseq": "BolA-like protein 2 member A; bolA homolog 2; bolA-like protein 2 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:552900); (hsa:654483); (R-HSA-8950505)",
"pathway_count": 3,
"publication_count": 77,
"publication_id_list": "11237011;12665801;16038020;17377532;18548201;18991276;20934997;21872626;21993680;22309771;22706990;22746225;23301498;23481700;24366607;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26613676;26929215;26992070;27487209;27519415;27543614;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30524438;31668704;31844290;32157095;32265295;32387766;32502341;32897882;32938616;32983136;33214551;33592498;33691108;33717175;33968037;33981976;34019948;34078123;34087483;34171305;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;38665916",
"class_list": "",
"function": "Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts together with the monothiol glutaredoxin GLRX3 (PubMed:26613676, PubMed:27519415)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Apo GRX3 and apo BOLA2 form a heterotrimeric complex, composed by two BOLA2 molecules and one GRX3 molecule, [RefSeq, PubMed]; BOLA2 participates in iron homeostasis in vivo., [RefSeq, PubMed]; BOLA2 shows Homo sapiens-specific duplication; this occurred around 280,000 years ago, with the duplication nearly fixed early in the human lineage, [RefSeq, PubMed]; The Glrx3 and BolA2 bound and facilitated Fe-S incorporation into Ciapin1, a [2Fe-2S] protein functioning early in the cytosolic Fe-S assembly pathway. Thus, Glrx3.BolA is a [2Fe-2S] chaperone complex capable of transferring [2Fe-2S] clusters to apoproteins in human cells., [RefSeq, PubMed]; This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]., [RefSeq]; This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments., [RefSeq, PubMed]",
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"secondary_ac_list": "A1L454;A7YDY3",
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"go_molecular_function": "GO:0051537 2 iron, 2 sulfur cluster binding;GO:0051536 iron-sulfur cluster binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006879 intracellular iron ion homeostasis;GO:0045454 cell redox homeostasis;GO:0051604 protein maturation;GO:0044571 [2Fe-2S] cluster assembly",
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},
{
"uniprot_canonical_ac": "Q562F6-1",
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{
"id": "SGO2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q562F6",
"type": "external"
}
],
"mass": 144739.0,
"length": 1265,
"protein_name": "Shugoshin 2",
"gene_name": "SGO2",
"organism": "Human",
"refseq_name": "shugoshin 2 isoform 3",
"refseq_ac": [
{
"id": "NP_001153518",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153518",
"type": "external"
}
],
"gene_names_uniprotkb": "SGO2; SGOL2",
"gene_names_refseq": "SGO2; SGOL2; TRIPIN",
"protein_names_uniprotkb": "Shugoshin 2; Shugoshin-2; Shugoshin-like 2; Tripin",
"protein_names_refseq": "shugoshin 2 isoform 3; shugoshin-like 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:151246); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)",
"pathway_count": 8,
"publication_count": 144,
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"function": "Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recruiting KIF2C to the inner centromere and for correcting defective kinetochore attachments. Involved in centromeric enrichment of AUKRB in prometaphase., [UniProtKB, PubMed, PubMed, PubMed]; High SGO2 Expression Predicts Poor Overall Survival: A Potential Therapeutic Target for Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2013 May;45(5):578], [RefSeq, PubMed]; Results identify an unexpected function of SGO2 in mitotically dividing cells and a mechanism of separase regulation that is independent of securin but still supervised by the spindle assembly checkpoint, [RefSeq, PubMed]; SGOL2 promotes prostate cancer progression by inhibiting RAB1A ubiquitination., [RefSeq, PubMed]; Shugosin 2 is a biomarker for pathological grading and survival prediction in patients with gliomas. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 16,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 8,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q53RR9;Q53T20;Q86XY4;Q8IWK2;Q8IZK1;Q8N1Q5;Q96LQ3",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0030892 mitotic cohesin complex;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region;GO:0000776 kinetochore",
"go_biological_process": "GO:0045143 homologous chromosome segregation;GO:0051301 cell division;GO:0071962 mitotic sister chromatid cohesion, centromeric;GO:0051177 meiotic sister chromatid cohesion;GO:0007059 chromosome segregation",
"synthesized_glycan_count": 0,
"hit_score": 14.7,
"record_id": "Q562F6-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q567U6-1",
"uniprot_id": [
{
"id": "CCD93_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q567U6",
"type": "external"
}
],
"mass": 73198.0,
"length": 631,
"protein_name": "Coiled-coil domain-containing protein 93",
"gene_name": "CCDC93",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 93",
"refseq_ac": [
{
"id": "NP_061917",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061917",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC93",
"gene_names_refseq": "CCDC93",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 93",
"protein_names_refseq": "coiled-coil domain containing 93; coiled-coil domain-containing protein 93",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:54520)",
"pathway_count": 1,
"publication_count": 83,
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"class_list": "",
"function": "(Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface., [UniProtKB, PubMed]; Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels (PubMed:37172566, PubMed:38459129). The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:25355947, PubMed:28892079). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "A8K3V7;Q4LE78;Q53TJ2;Q8TBX5;Q9H6R5;Q9NV15",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0010008 endosome membrane;GO:0032991 protein-containing complex",
"go_biological_process": "GO:0015031 protein transport;GO:0032456 endocytic recycling;GO:0006893 Golgi to plasma membrane transport",
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"record_id": "Q567U6-1",
"record_type": "protein",
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},
{
"uniprot_canonical_ac": "P38936-1",
"uniprot_id": [
{
"id": "CDN1A_HUMAN",
"url": "https://www.uniprot.org/uniprot/P38936",
"type": "external"
}
],
"mass": 18119.0,
"length": 164,
"protein_name": "Cyclin-dependent kinase inhibitor 1",
"gene_name": "CDKN1A",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase inhibitor 1 isoform 1",
"refseq_ac": [
{
"id": "NP_000380",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000380",
"type": "external"
}
],
"gene_names_uniprotkb": "CDKN1A; CAP20; CDKN1; CIP1; MDA6; PIC1; SDI1; WAF1",
"gene_names_refseq": "CAP20; CDKN1A; CDKN1; CIP1; MDA-6; P21; SDI1; WAF1; p21CIP1",
"protein_names_uniprotkb": "Cyclin-dependent kinase inhibitor 1; CDK-interacting protein 1; MDA-6; Melanoma differentiation-associated protein 6; p21",
"protein_names_refseq": "CDK-interacting protein 1; CDK-interaction protein 1; DNA synthesis inhibitor; cyclin-dependent kinase inhibitor 1 isoform 1; cyclin-dependent kinase inhibitor 1A (p21, Cip1); cyclin-dependent kinase inhibitor 1; melanoma differentiation associated protein 6; wild-type p53-activated fragment 1",
"tax_id": 9606,
"disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); pre-malignant neoplasm (Disease Ontology:DOID:0060071); ductal carcinoma in situ (Disease Ontology:DOID:0060074); atrial fibrillation (Disease Ontology:DOID:0060224); T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312); prostate cancer (Disease Ontology:DOID:10283); primary open angle glaucoma (Disease Ontology:DOID:1070); renal hypertension (Disease Ontology:DOID:1073); cholesteatoma of middle ear (Disease Ontology:DOID:10964); lipoid nephrosis (Disease Ontology:DOID:10966); sarcoidosis (Disease Ontology:DOID:11335); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); primary biliary cholangitis (Disease Ontology:DOID:12236); acoustic neuroma (Disease Ontology:DOID:12689); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); papilloma (Disease Ontology:DOID:2615); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); high grade glioma (Disease Ontology:DOID:3070); serous cystadenocarcinoma (Disease Ontology:DOID:3114); inverted papilloma (Disease Ontology:DOID:3179); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular degeneration (Disease Ontology:DOID:4448); pancreatic carcinoma (Disease Ontology:DOID:4905); stomach carcinoma (Disease Ontology:DOID:5517); sebaceous gland neoplasm (Disease Ontology:DOID:5759); growth hormone secreting pituitary adenoma (Disease Ontology:DOID:6255); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); maxillary sinus squamous cell carcinoma (Disease Ontology:DOID:7910); retinal degeneration (Disease Ontology:DOID:8466); ulcerative colitis (Disease Ontology:DOID:8577); psoriasis (Disease Ontology:DOID:8893); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); liver benign neoplasm (Disease Ontology:DOID:916); Barrett's esophagus (Disease Ontology:DOID:9206); ocular hypertension (Disease Ontology:DOID:9282); oral mucosa leukoplakia (Disease Ontology:DOID:9655)",
"pathway": " (hsa:1026); (R-HSA-187577); (R-HSA-198323); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-5674400); (R-HSA-6785807); (R-HSA-6804116); (R-HSA-69202); (R-HSA-69205); (R-HSA-69231); (R-HSA-69563); (R-HSA-69656); (R-HSA-69895); (R-HSA-8852276); (R-HSA-8866911); (R-HSA-8878166); (R-HSA-8941855); (R-HSA-8951664); (R-HSA-9616222); (R-HSA-9617828); (R-HSA-9661069); (R-HSA-9702518); (R-HSA-9703465); (R-HSA-9725370); (R-HSA-9755511); (R-HSA-9825892)",
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"class_list": "",
"function": "CLIC3 interacts with NAT10 to inhibit N4-acetylcytidine modification of p21 mRNA and promote bladder cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; HIV-1 controllers exhibit an enhanced antiretroviral innate state characterised by overexpression of p21 and MCPIP1 and silencing of ERVK-6 RNA expression. Publication Status: Online-Only, [RefSeq, PubMed]; 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 D-CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 for PCNA binding (PubMed:11595739). Negatively regulates the CDK4- and CDK6-driven phosphorylation of RB1 in keratinocytes, thereby resulting in the release of E2F1 and subsequent transcription of E2F1-driven G1/S phase promoting genes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; TRIM40 interacts with ROCK1 directly and inhibits colorectal cancer cell proliferation through the c-Myc/p21 axis., [RefSeq, PubMed]; These findings provide biological insights into the possible role of nonsense-mediated mRNA decay in diverse biological pathways mediated by CDKN1A., [RefSeq, PubMed]; This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcriptome analysis of polyploid giant cancer cells and their progeny reveals a functional role for p21 in polyploidization and depolyploidization., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_phosphosites": 37,
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"reported_glycation": 0,
"reported_snv": 14,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 42,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q14010;Q6FI05;Q9BUT4",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding;GO:0004860 protein kinase inhibitor activity",
"go_cellular_component": "GO:0070557 PCNA-p21 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0071493 cellular response to UV-B;GO:0090400 stress-induced premature senescence;GO:0001934 positive regulation of protein phosphorylation;GO:0007507 heart development;GO:0008285 negative regulation of cell population proliferation",
"synthesized_glycan_count": 0,
"hit_score": 78.1,
"record_id": "P38936-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P27487-1",
"uniprot_id": [
{
"id": "DPP4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P27487",
"type": "external"
}
],
"mass": 88279.0,
"length": 766,
"protein_name": "Dipeptidyl peptidase 4",
"gene_name": "DPP4",
"organism": "Human",
"refseq_name": "dipeptidyl peptidase 4 isoform 1",
"refseq_ac": [
{
"id": "NP_001926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001926",
"type": "external"
}
],
"gene_names_uniprotkb": "DPP4; ADCP2; CD26",
"gene_names_refseq": "ADABP; ADCP2; CD26; DPP4; DPPIV; TP103",
"protein_names_uniprotkb": "Dipeptidyl peptidase 4; 3.4.14.5; ADABP; ADCP-2; Adenosine deaminase complexing protein 2; DPP IV; Dipeptidyl peptidase IV membrane form; Dipeptidyl peptidase IV soluble form; Dipeptidyl peptidase IV; T-cell activation antigen CD26; TP103",
"protein_names_refseq": "ADCP-2; DPP IV; Gly-Pro naphthylamidase; Post-proline dipeptidyl aminopeptidase IV; T-cell activation antigen CD26; Xaa-Pro-dipeptidylaminopeptidase; dipeptidyl peptidase 4 isoform 1; dipeptidyl peptidase IV; dipeptidylpeptidase 4; dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)",
"tax_id": 9606,
"disease": "Middle East respiratory syndrome (Disease Ontology:DOID:0080642); Alzheimer's disease (Disease Ontology:DOID:10652); familial hyperlipidemia (Disease Ontology:DOID:1168); protein-energy malnutrition (Disease Ontology:DOID:11801); nephrotic syndrome (Disease Ontology:DOID:1184); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); familial combined hyperlipidemia (Disease Ontology:DOID:13809); hypothyroidism (Disease Ontology:DOID:1459); hyperinsulinism (Disease Ontology:DOID:2018); hepatitis (Disease Ontology:DOID:2237); ischemia (Disease Ontology:DOID:326); coronary artery disease (Disease Ontology:DOID:3393); peripheral vascular disease (Disease Ontology:DOID:341); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); kidney disease (Disease Ontology:DOID:557); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:1803); (R-HSA-381771); (R-HSA-400511)",
"pathway_count": 3,
"publication_count": 102,
"publication_id_list": "10.1101/2023.09.13.557529;10366038;10570924;10593948;10880264;10900005;10951221;11027426;11237011;11564718;11772392;11773049;11978683;12483204;12540594;12646248;12651102;12676959;12810581;12832764;12906826;1347043;1352530;1352704;14691230;14719035;14719797;1499644;15016824;15126524;15448155;15584901;15619630;16219666;16254193;16335952;16651416;16670267;16728727;1677636;17065399;17287217;17549790;17681422;18202141;18519800;18593849;18708048;19001044;19054851;19159218;19557413;1977364;20684603;23486063;23835475;24190977;24714562;25576301;25892735;26992070;27452731;27600516;27862975;28832583;2890159;29242379;29391424;29493099;29557506;29741879;30594915;30779550;30828317;31844290;32157095;32178593;32350084;32502341;33592498;33981976;35051231;35580925;36284347;37074911;3841689;38665916;38829136;3900195;39038507;39259075;7487939;7883856;7907293;7927537;8096237;8100523;8101391;8428636;8526932;8798518;9413751",
"class_list": "glycogene",
"function": "(Microbial infection) Acts as a receptor for human coronavirus MERS-CoV-2., [UniProtKB, PubMed]; Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation (PubMed:10900005, PubMed:10951221, PubMed:11772392, PubMed:17287217). Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC (PubMed:10900005, PubMed:10951221, PubMed:11772392, PubMed:14691230). Its binding to CAV1 and CARD11 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM (PubMed:10593948, PubMed:16651416). May be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formation (PubMed:18708048). When overexpressed, enhanced cell proliferation, a process inhibited by GPC3 (PubMed:17549790). Also acts as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones such as brain natriuretic peptide 32 (PubMed:10570924, PubMed:16254193). Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline (PubMed:10593948)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dipeptidyl peptidase 4 interacts with porcine coronavirus PHEV spikes and mediates host range expansion., [RefSeq, PubMed]; Exploring the conformational dynamics and key amino acids in the CD26-caveolin-1 interaction and potential therapeutic interventions., [RefSeq, PubMed]; Highlights the key finding that the S1 domain of COVID-19 spike glycoprotein potentially interacts with the human CD26 Publication Status: Online-Only, [RefSeq, PubMed]; Neuro-molecular perspectives on long COVID-19 impacted cerebrovascular diseases - a role for dipeptidyl peptidase IV. Review article, [RefSeq, PubMed]; The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020]., [RefSeq]",
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"reported_snv": 1010,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "predictive",
"glycan_count": 92,
"disease_count": 19,
"glyco_site_count": 12,
"binding_glycan_count": 0,
"secondary_ac_list": "Q53TN1",
"ec_number_list": [
{
"id": "3.4.14.5",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.5",
"type": "external"
}
],
"go_molecular_function": "GO:0008239 dipeptidyl-peptidase activity;GO:0002020 protease binding;GO:0004252 serine-type endopeptidase activity;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation;GO:0016486 peptide hormone processing;GO:0001666 response to hypoxia",
"synthesized_glycan_count": 0,
"hit_score": 20.8,
"record_id": "P27487-1",
"record_type": "protein",
"filter_code": "0010000.1100111.100000.000000000001000000.1100000000000.100.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P19525-1",
"uniprot_id": [
{
"id": "E2AK2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P19525",
"type": "external"
}
],
"mass": 62094.0,
"length": 551,
"protein_name": "Interferon-induced, double-stranded RNA-activated protein kinase",
"gene_name": "EIF2AK2",
"organism": "Human",
"refseq_name": "interferon-induced, double-stranded RNA-activated protein kinase isoform a",
"refseq_ac": [
{
"id": "NP_001129123",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129123",
"type": "external"
}
],
"gene_names_uniprotkb": "EIF2AK2; PKR; PRKR",
"gene_names_refseq": "EIF2AK2; PKR; PPP1R83; PRKR",
"protein_names_uniprotkb": "Interferon-induced, double-stranded RNA-activated protein kinase; 2.7.10.2; 2.7.11.1; Eukaryotic translation initiation factor 2-alpha kinase 2; Interferon-inducible RNA-dependent protein kinase; P1/eIF-2A protein kinase; PKR; Protein kinase RNA-activated; Protein kinase R; Tyrosine-protein kinase EIF2AK2; eIF-2A protein kinase 2; p68 kinase",
"protein_names_refseq": "P1/eIF-2A protein kinase; double stranded RNA activated protein kinase; eIF-2A protein kinase 2; interferon-induced, double-stranded RNA-activated protein kinase isoform a; interferon-inducible elF2alpha kinase; p68 kinase; protein kinase RNA-regulated; protein kinase R; protein kinase, interferon-inducible double stranded RNA dependent; protein phosphatase 1, regulatory subunit 83; tyrosine-protein kinase EIF2AK2",
"tax_id": 9606,
"disease": "dystonia 33 (Disease Ontology:DOID:0060940); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); hepatitis B (Disease Ontology:DOID:2043); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pulmonary venoocclusive disease (Disease Ontology:DOID:5453); leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (MONDO:MONDO:0030035)",
"pathway": " (hsa:5610); (R-HSA-1169408); (R-HSA-169131); (R-HSA-4755510); (R-HSA-909733); (R-HSA-9833109); (R-HSA-9833482)",
"pathway_count": 7,
"publication_count": 417,
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"class_list": "",
"function": "Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation., [RefSeq, PubMed]; IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection (PubMed:18835251, PubMed:19189853, PubMed:19507191, PubMed:21072047, PubMed:21123651, PubMed:22381929, PubMed:22948139, PubMed:23229543). Inhibits viral replication via the integrated stress response (ISR): EIF2S1/eIF-2-alpha phosphorylation in response to viral infection converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, resulting to a shutdown of cellular and viral protein synthesis, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4 (PubMed:19189853, PubMed:21123651, PubMed:22948139, PubMed:23229543). Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1) (PubMed:11836380, PubMed:19189853, PubMed:19840259, PubMed:20171114, PubMed:21710204, PubMed:23115276, PubMed:23399035). Also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation: phosphorylates other substrates including p53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral protein US11 (PubMed:11836380, PubMed:19229320, PubMed:22214662). In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity and phosphorylates CDK1 at 'Tyr-4' upon DNA damage, facilitating its ubiquitination and proteasomal degradation (PubMed:20395957). Either as an adapter protein and/or via its kinase activity, can regulate various signaling pathways (p38 MAP kinase, NF-kappa-B and insulin signaling pathways) and transcription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved in the expression of genes encoding pro-inflammatory cytokines and IFNs (PubMed:22948139, PubMed:23084476, PubMed:23372823). Activates the NF-kappa-B pathway via interaction with IKBKB and TRAF family of proteins and activates the p38 MAP kinase pathway via interaction with MAP2K6 (PubMed:10848580, PubMed:15121867, PubMed:15229216). Can act as both a positive and negative regulator of the insulin signaling pathway (ISP) (PubMed:20685959). Negatively regulates ISP by inducing the inhibitory phosphorylation of insulin receptor substrate 1 (IRS1) at 'Ser-312' and positively regulates ISP via phosphorylation of PPP2R5A which activates FOXO1, which in turn up-regulates the expression of insulin receptor substrate 2 (IRS2) (PubMed:20685959). Can regulate NLRP3 inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 and NLRC4 inflammasomes (PubMed:22801494). Plays a role in the regulation of the cytoskeleton by binding to gelsolin (GSN), sequestering the protein in an inactive conformation away from actin (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Involvement of Protein Kinase R in Double-Stranded RNA-Induced Proteasomal Degradation of Hypoxia Inducible Factor-1alpha., [RefSeq, PubMed]; Structural study of novel vaccinia virus E3L and dsRNA-dependent protein kinase complex., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]., [RefSeq]; The role of protein kinase R in placental inflammation, mtUPR and apoptosis., [RefSeq, PubMed]; [Research Advances in the Association Between Alzheimer's Disease and Double-Stranded RNA-Dependent Protein Kinase]. Review article, [RefSeq, PubMed]",
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"biomarker_type": "",
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],
"go_molecular_function": "GO:0004694 eukaryotic translation initiation factor 2alpha kinase activity;GO:0003723 RNA binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane",
"go_biological_process": "GO:1900225 regulation of NLRP3 inflammasome complex assembly;GO:1901532 regulation of hematopoietic progenitor cell differentiation;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade",
"synthesized_glycan_count": 0,
"hit_score": 42.2,
"record_id": "P19525-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TE68-1",
"uniprot_id": [
{
"id": "ES8L1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TE68",
"type": "external"
}
],
"mass": 80251.0,
"length": 723,
"protein_name": "Epidermal growth factor receptor kinase substrate 8-like protein 1",
"gene_name": "EPS8L1",
"organism": "Human",
"refseq_name": "epidermal growth factor receptor kinase substrate 8-like protein 1 isoform b",
"refseq_ac": [
{
"id": "NP_060199",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060199",
"type": "external"
}
],
"gene_names_uniprotkb": "EPS8L1; DRC3; EPS8R1; PP10566",
"gene_names_refseq": "DRC3; EPS8L1; EPS8R1; PP10566",
"protein_names_uniprotkb": "Epidermal growth factor receptor kinase substrate 8-like protein 1; EPS8-like protein 1; EPS8-related protein 1; Epidermal growth factor receptor pathway substrate 8-related protein 1",
"protein_names_refseq": "EPS8 like 1; EPS8-like protein 1; EPS8-related protein 1; down-regulated in esophageal cancer cDNA 3; epidermal growth factor receptor kinase substrate 8-like protein 1 isoform b; epidermal growth factor receptor kinase substrate 8-like protein 1; epidermal growth factor receptor pathway substrate 8-related protein 1",
"tax_id": 9606,
"disease": "alcohol use disorder (Disease Ontology:DOID:1574)",
"pathway": " (hsa:54869)",
"pathway_count": 1,
"publication_count": 32,
"publication_id_list": "10514543;11237011;12620401;14565974;15498874;18669648;19664994;20068231;23186163;25576301;27397612;29093164;29242379;29371260;29557506;29786170;29789417;30524438;30779550;31844290;32157095;32387766;32488085;33537174;33981976;34087483;34185709;35051231;35318648;35580925;36284347;37889356",
"class_list": "",
"function": "Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals., [RefSeq, PubMed]; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton., [UniProtKB, PubMed]; This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q71RE2;Q8NC10;Q96BB7;Q9BSQ2;Q9GZQ2;Q9NXH0",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding;GO:0042608 T cell receptor binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0032587 ruffle membrane;GO:0032991 protein-containing complex",
"go_biological_process": "GO:0007266 Rho protein signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:1900029 positive regulation of ruffle assembly",
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},
{
"uniprot_canonical_ac": "Q4KMZ1-1",
"uniprot_id": [
{
"id": "IQCC_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q4KMZ1",
"type": "external"
}
],
"mass": 53032.0,
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"protein_name": "IQ domain-containing protein C",
"gene_name": "IQCC",
"organism": "Human",
"refseq_name": "IQ domain-containing protein C isoform 1",
"refseq_ac": [
{
"id": "NP_001153514",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153514",
"type": "external"
}
],
"gene_names_uniprotkb": "IQCC",
"gene_names_refseq": "IQCC",
"protein_names_uniprotkb": "IQ domain-containing protein C",
"protein_names_refseq": "IQ domain-containing protein C isoform 1; IQ domain-containing protein C",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55721)",
"pathway_count": 1,
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},
{
"uniprot_canonical_ac": "Q96BD8-1",
"uniprot_id": [
{
"id": "SKA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96BD8",
"type": "external"
}
],
"mass": 29484.0,
"length": 255,
"protein_name": "SKA complex subunit 1",
"gene_name": "SKA1",
"organism": "Human",
"refseq_name": "SKA complex subunit 1",
"refseq_ac": [
{
"id": "NP_001034624",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034624",
"type": "external"
}
],
"gene_names_uniprotkb": "SKA1; C18orf24",
"gene_names_refseq": "C18orf24; SKA1",
"protein_names_uniprotkb": "SKA complex subunit 1; Spindle and kinetochore-associated protein 1",
"protein_names_refseq": "SKA complex subunit 1; spindle and KT (kinetochore) associated 1; spindle and kinetochore-associated protein 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:220134); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)",
"pathway_count": 8,
"publication_count": 144,
"publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15507212;15561729;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17093495;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18491316;18716626;18923426;19289083;19350017;19387489;19646878;19696148;19815554;19965387;20030946;20101212;20112406;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22371557;22454517;22483620;22608513;22790947;22885700;23085020;23222643;23801653;24413531;24715725;24914801;25418920;25740311;25789526;26981768;26992070;27225956;27600516;27667719;27697923;27846572;27920218;28441529;28479321;28495837;28535377;28649982;28832583;28834231;28904123;29153323;29242379;29331515;29487209;29493099;29557506;29786170;29789417;30779550;30833945;31409757;31530632;31804178;31844290;31848261;32157095;32488085;32491969;32502341;32897882;32938616;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34260926;34932366;35051231;35318648;35561310;35580925;36241641;36592928;36973749;37746945;37814813;9649308;9649503;9892021",
"class_list": "",
"function": "Component of the SKA complex, a microtubule plus end-binding complex of the outer kinetochore that stabilizes spindle microtubule-kinetochore attachments, promotes alignment of chromosomes at the mitotic spindle equator (chromosome congression) and assists suppression of the spindle assembly checkpoint (PubMed:17093495, PubMed:19289083, PubMed:22371557, PubMed:22483620, PubMed:23085020, PubMed:26981768, PubMed:27697923, PubMed:29487209, PubMed:31804178). Kinetochores, consisting of a centromere-associated inner segment and a microtubule-contacting outer segment, play a crucial role in chromosome segregation by mediating the physical connection between centromeric DNA and spindle microtubules (PubMed:19289083, PubMed:22483620, PubMed:23085020, PubMed:28479321, PubMed:29487209). The outer kinetochore is made up of the ten-subunit KMN network complex, comprising the MIS12, NDC80 and KNL1 complexes, and auxiliary microtubule-associated components such as the SKA complex; together they connect the outer kinetochore with the inner kinetochore, bind microtubules, and mediate interactions with mitotic checkpoint proteins that delay anaphase until chromosomes are bioriented on the spindle (PubMed:17093495, PubMed:19289083, PubMed:23085020, PubMed:28479321, PubMed:29487209). The SKA complex is loaded onto bioriented kinetochores and it facilitates chromosome congression by stabilizing microtubules together with MAPRE1, and end-on attachment of the NDC80 complex to depolymerizing spindle microtubules, thereby assisting the poleward-moving kinetochore in withstanding microtubule pulling forces (PubMed:19289083, PubMed:22371557, PubMed:22454517, PubMed:23085020, PubMed:24413531, PubMed:27697923, PubMed:28479321, PubMed:28495837, PubMed:29487209). The complex associates with dynamic microtubule plus-ends and can track both depolymerizing and elongating microtubules (PubMed:23085020, PubMed:29153323). The complex recruits protein phosphatase 1 (PP1) to the kinetochore in prometaphase and metaphase, to oppose spindle assembly checkpoint signaling and promote the onset of anaphase (PubMed:26981768). In the complex, it mediates interactions with microtubules (PubMed:19289083, PubMed:22483620, PubMed:23085020, PubMed:24413531, PubMed:27667719, PubMed:29153323, PubMed:36592928). It also stimulates AURKB/Aurora B catalytic activity (PubMed:27697923). During meiosis the SKA complex stabilizes the meiotic spindle and is required for its migration to the cortex (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated analysis of SKA1-related ceRNA network and SKA1 immunoassays in HCC: A study based on bioinformatic., [RefSeq, PubMed]; Kinetochore-microtubule attachment in human cells is regulated by the interaction of a conserved motif of Ska1 with EB1., [RefSeq, PubMed]; Preliminary exploration of SKA1 expression in lung adenocarcinoma and its clinical significance., [RefSeq, PubMed]; The full Ska1 complex forms assemblies on microtubules that can facilitate the processive movement of microspheres along depolymerizing microtubules., [RefSeq, PubMed]; These data suggest that the Ska1/Ska2 complex plays a critical role in the maintenance of the metaphase plate and/or spindle checkpoint silencing., [RefSeq, PubMed]",
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"secondary_ac_list": "B2R9Y6;B4E0P4",
"ec_number_list": [],
"go_molecular_function": "GO:0008017 microtubule binding",
"go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0000776 kinetochore;GO:0005876 spindle microtubule",
"go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0051310 metaphase chromosome alignment;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation",
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},
{
"uniprot_canonical_ac": "P60033-1",
"uniprot_id": [
{
"id": "CD81_HUMAN",
"url": "https://www.uniprot.org/uniprot/P60033",
"type": "external"
}
],
"mass": 25809.0,
"length": 236,
"protein_name": "CD81 antigen",
"gene_name": "CD81",
"organism": "Human",
"refseq_name": "CD81 antigen isoform 2",
"refseq_ac": [
{
"id": "NP_001284578",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284578",
"type": "external"
}
],
"gene_names_uniprotkb": "CD81; TAPA1; TSPAN28",
"gene_names_refseq": "CD81; CVID6; S5.7; TAPA1; TSPAN28",
"protein_names_uniprotkb": "CD81 antigen; 26 kDa cell surface protein TAPA-1; Target of the antiproliferative antibody 1; Tetraspanin-28; Tspan-28",
"protein_names_refseq": "26 kDa cell surface protein TAPA-1; CD81 antigen (target of antiproliferative antibody 1); CD81 antigen isoform 2; tetraspanin-28; tspan-28",
"tax_id": 9606,
"disease": "common variable immunodeficiency 6 (Disease Ontology:DOID:0081149)",
"pathway": " (hsa:975); (R-HSA-198933); (R-HSA-977606)",
"pathway_count": 3,
"publication_count": 200,
"publication_id_list": "10499918;10531307;1067618;10746781;11226150;11237011;11265639;11489943;11504738;11513152;11556966;11694537;11807247;11857637;11858820;11861603;11939578;11955593;11955595;11955599;12055245;12213321;12437138;12483205;12483297;12588680;12796480;12913001;12970454;1383329;1386357;14719373;14970179;15004227;15034010;15136729;15155468;15161911;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16079145;16091383;16129954;16192651;16339513;16380601;16449649;16551255;16737824;16754721;16893496;16904340;16928187;1695320;16999828;17045824;17057721;17182573;17237375;17337780;17505110;18031695;18037897;18055229;18209062;18234675;18593354;1860863;19149696;19359216;19592130;20237408;20375010;20730098;21241660;21516087;21788512;21800138;21841309;21877119;21930792;22307619;22396535;22802338;23487775;23695528;23858057;23929856;2398277;2420889;24305946;2465906;2466593;2481448;25576301;25703557;25716998;26116703;26284469;26300885;26354436;26992070;27600516;27881302;27916518;27993971;28218747;28510447;28832583;28834231;28871089;29242379;29314611;293688;293746;29437277;29508533;29557506;2956252;2971659;301546;30573663;30833945;31154438;31217245;31611695;31844290;31998317;32157095;32161166;32350084;32488085;32502341;32897882;32938616;32983136;33043033;33298915;33592498;33691108;33936100;33968037;34229054;34357683;34433824;35051231;35154160;35251023;35580925;36010968;36284347;38014564;38070275;3848661;38515751;39140770;39159818;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7531291;7542404;7542572;760802;761607;7690834;7691959;8178173;8345200;8409388;8495193;8766544;8786315;8995416;9038722;9285412;9314561;9700512;9730896;978134",
"class_list": "",
"function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Involved in SAMHD1-dependent restriction of HIV-1 replication. May support early replication of both R5- and X4-tropic HIV-1 viruses in T cells, likely via proteasome-dependent degradation of SAMHD1., [UniProtKB, PubMed]; (Microbial infection) Specifically required for Plasmodium falciparum infectivity of hepatocytes, controlling sporozoite entry into hepatocytes via the parasitophorous vacuole and subsequent parasite differentiation to exoerythrocytic forms., [UniProtKB, PubMed]; CD81 and CD82 expressing tumor-infiltrating lymphocytes in the NSCLC tumor microenvironment play a crucial role in T-cell activation and cytokine production. Publication Status: Online-Only, [RefSeq, PubMed]; CD81 fusion alters SARS-CoV-2 Spike trafficking., [RefSeq, PubMed]; Characterization and verification of CD81 as a potential target in lung squamous cell carcinoma. Erratum:[Biochem Biophys Res Commun. 2024 Oct 15;729:150352. doi: 10.1016/j.bbrc.2024.150352. PMID: 38972138], [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells (PubMed:16449649, PubMed:20237408, PubMed:27881302). Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production (PubMed:15161911, PubMed:20237408). In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype (PubMed:22307619, PubMed:23858057, PubMed:8766544). Present in MHC class II compartments, may also play a role in antigen presentation (PubMed:8409388, PubMed:8766544). Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels (PubMed:28871089). Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The conformation of tetraspanins CD53 and CD81 differentially affects their nanoscale organization and interaction with their partners., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Transcript CD81-215 may be a long noncoding RNA of stromal origin with tumor-promoting role in colon cancer. Erratum:[Cell Biochem Funct. 2024 Dec;42(8):e70018. doi: 10.1002/cbf.70018. PMID: 39572866], [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005178 integrin binding;GO:0023026 MHC class II protein complex binding;GO:0015485 cholesterol binding;GO:0001618 virus receptor activity;GO:1990459 transferrin receptor binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome",
"go_biological_process": "GO:1903911 positive regulation of receptor clustering;GO:0031623 receptor internalization;GO:0043410 positive regulation of MAPK cascade;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0072659 protein localization to plasma membrane",
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},
{
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{
"id": "CC186_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z3E2",
"type": "external"
}
],
"mass": 103687.0,
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"protein_name": "Coiled-coil domain-containing protein 186",
"gene_name": "CCDC186",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 186 isoform 1",
"refseq_ac": [
{
"id": "NP_001308758",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308758",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC186; C10orf118",
"gene_names_refseq": "C10orf118; CCCP-1; CCCP1; CCDC186; golgin104",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 186; CTCL tumor antigen HD-CL-01/L14-2",
"protein_names_refseq": "CTCL tumor antigen HD-CL-01/L14-2; CTCL tumor antigen L14-2; coiled-coil domain-containing protein 186 isoform 1; coiled-coil domain-containing protein 186",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55088)",
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"class_list": "",
"function": "A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy., [RefSeq, PubMed]; Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0031267 small GTPase binding",
"go_cellular_component": "GO:0005802 trans-Golgi network",
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},
{
"uniprot_canonical_ac": "P15311-1",
"uniprot_id": [
{
"id": "EZRI_HUMAN",
"url": "https://www.uniprot.org/uniprot/P15311",
"type": "external"
}
],
"mass": 69413.0,
"length": 586,
"protein_name": "Ezrin",
"gene_name": "EZR",
"organism": "Human",
"refseq_name": "ezrin",
"refseq_ac": [
{
"id": "NP_001104547",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104547",
"type": "external"
}
],
"gene_names_uniprotkb": "EZR; VIL2",
"gene_names_refseq": "CVIL; CVL; EZR; HEL-S-105; VIL2",
"protein_names_uniprotkb": "Ezrin; Cytovillin; Villin-2; p81",
"protein_names_refseq": "cytovillin 2; epididymis secretory protein Li 105; ezrin; p81; villin 2 (ezrin)",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7430); (R-HSA-373752); (R-HSA-437239); (R-HSA-9662360); (R-HSA-9662361)",
"pathway_count": 5,
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"class_list": "",
"function": "Ez-Metastasizing: The Crucial Roles of Ezrin in Metastasis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury., [RefSeq, PubMed]; Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin., [RefSeq, PubMed]; Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis., [UniProtKB, PubMed, PubMed, PubMed]; The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Variant in EZR leads to defects in lens development., [RefSeq, PubMed]",
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"secondary_ac_list": "E1P5A8;P23714;Q4VX75;Q96CU8;Q9NSJ4",
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"go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0003723 RNA binding;GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0019904 protein domain specific binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005884 actin filament",
"go_biological_process": "GO:1902966 positive regulation of protein localization to early endosome;GO:0001951 intestinal D-glucose absorption;GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0022614 membrane to membrane docking;GO:0030033 microvillus assembly",
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},
{
"uniprot_canonical_ac": "Q49A26-1",
"uniprot_id": [
{
"id": "GLYR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q49A26",
"type": "external"
}
],
"mass": 60547.0,
"length": 553,
"protein_name": "Cytokine-like nuclear factor N-PAC",
"gene_name": "GLYR1",
"organism": "Human",
"refseq_name": "cytokine-like nuclear factor N-PAC isoform 2",
"refseq_ac": [
{
"id": "NP_001295025",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295025",
"type": "external"
}
],
"gene_names_uniprotkb": "GLYR1; HIBDL; NDF; NP60; NPAC",
"gene_names_refseq": "BM045; GLYR1; HIBDL; N-PAC; NP60; NPAC; hNDF",
"protein_names_uniprotkb": "Cytokine-like nuclear factor N-PAC; 3-hydroxyisobutyrate dehydrogenase-like protein; Glyoxylate reductase 1 homolog; NPAC; Nuclear protein NP60; Nuclear protein of 60 kDa; Nucleosome-destabilizing factor; Putative oxidoreductase GLYR1; hNDF",
"protein_names_refseq": "3-hydroxyisobutyrate dehydrogenase-like protein; cytokine-like nuclear factor N-PAC isoform 2; cytokine-like nuclear factor n-pac; nuclear protein 60 kDa; nuclear protein 60kDa; nuclear protein NP60; nuclear protein of 60 kDa; nucleosome-destabilizing factor; putative oxidoreductase GLYR1",
"tax_id": 9606,
"disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651)",
"pathway": " (hsa:84656)",
"pathway_count": 1,
"publication_count": 59,
"publication_id_list": "11237011;16352664;17081983;18452278;18669648;19651622;19691289;20068231;20166139;20850016;21406692;22967762;23186163;23260659;23357850;23481700;25755297;25772364;29393594;29557506;29759984;30315122;30410026;30970244;31217245;31408337;31844290;32157095;32357974;32370786;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33968037;34019948;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35182466;35318648;35580925;36010968;36215666;36241641;37217939;37938771;40914422",
"class_list": "",
"function": "Cytokine-like nuclear factor with chromatin gene reader activity involved in chromatin modification and regulation of gene expression (PubMed:23260659, PubMed:30970244). Acts as a nucleosome-destabilizing factor that is recruited to genes during transcriptional activation (PubMed:29759984, PubMed:30970244). Recognizes and binds histone H3 without a preference for specific epigenetic markers and also binds DNA (PubMed:20850016, PubMed:30970244). Interacts with KDM1B and promotes its histone demethylase activity by facilitating the capture of H3 tails, they form a multifunctional enzyme complex that modifies transcribed chromatin and facilitates Pol II transcription through nucleosomes (PubMed:23260659, PubMed:29759984, PubMed:30970244). Stimulates the acetylation of 'Lys-56' of nucleosomal histone H3 (H3K56ac) by EP300 (PubMed:29759984). With GATA4, co-binds a defined set of heart development genes and coregulates their expression during cardiomyocyte differentiation (PubMed:35182466). Regulates p38 MAP kinase activity by mediating stress activation of MAPK14/p38alpha and specifically regulating MAPK14 signaling (PubMed:16352664). Indirectly promotes phosphorylation of MAPK14 and activation of ATF2 (PubMed:16352664). The phosphorylation of MAPK14 requires upstream activity of MAP2K4 and MAP2K6 (PubMed:16352664)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Downregulation of GLYR1 contributes to microsatellite instability colorectal cancer by targeting p21 via the p38MAPK and PI3K/AKT pathways. Erratum:[J Exp Clin Cancer Res. 2020 Jul 6;39(1):125. doi: 10.1186/s13046-020-01635-6. PMID: 32624003] Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B4DL47;C9JJ40;C9JJ60;Q5U632;Q6P1Q2;Q6V3W7;Q9BTI1;Q9BXK2",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0051287 NAD binding;GO:0042393 histone binding;GO:0031491 nucleosome binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000786 nucleosome;GO:0005694 chromosome",
"go_biological_process": "GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0140673 transcription elongation-coupled chromatin remodeling",
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"record_id": "Q49A26-1",
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},
{
"uniprot_canonical_ac": "Q9NTI5-1",
"uniprot_id": [
{
"id": "PDS5B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NTI5",
"type": "external"
}
],
"mass": 164667.0,
"length": 1447,
"protein_name": "Sister chromatid cohesion protein PDS5 homolog B",
"gene_name": "PDS5B",
"organism": "Human",
"refseq_name": "sister chromatid cohesion protein PDS5 homolog B",
"refseq_ac": [
{
"id": "NP_055847",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055847",
"type": "external"
}
],
"gene_names_uniprotkb": "PDS5B; APRIN; AS3; KIAA0979",
"gene_names_refseq": "APRIN; AS3; CG008; PDS5B",
"protein_names_uniprotkb": "Sister chromatid cohesion protein PDS5 homolog B; Androgen-induced proliferation inhibitor; Androgen-induced prostate proliferative shutoff-associated protein AS3",
"protein_names_refseq": "androgen induced inhibitor of proliferation; androgen-induced proliferation inhibitor; androgen-induced prostate proliferative shutoff-associated protein AS3; androgen-induced shutoff 3; sister chromatid cohesion protein PDS5 homolog B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:23047); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257)",
"pathway_count": 5,
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"publication_id_list": "10215036;10411507;10963680;11081627;11237011;11371342;11509732;12194817;14730319;15302935;15339662;15345747;15723797;15737063;15821733;15837422;15855230;15958495;16541025;16682347;16964243;17081983;17112726;17113138;17525332;18097444;18411254;18452278;18491316;18614053;18669648;18691976;18707149;18716626;18767875;19367720;19413330;19608861;19651622;19664994;19664995;19690332;19691289;19696148;19965387;20058876;20068231;20112406;20166139;21111234;21406692;21878504;21987589;22101327;22299025;22885700;23186163;23481700;24275569;24715725;25418920;25576301;25645385;25810538;25880248;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30784271;30833945;31154438;31217245;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34070827;34087483;34171305;34211107;34260926;34405274;34509645;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36241641;36284347;36631010;37217939;37938771;40596516;40914422;8291532;9459187;9649503;9892021",
"class_list": "",
"function": "PDS5A and PDS5B in Cohesin Function and Human Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]., [RefSeq]; [PDS5B inhibits the proliferation of A549 human lung cancer cells via downregulation of Wnt5a]., [RefSeq, PubMed]",
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"tax_id": 9606,
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"protein_name": "DNA polymerase eta",
"gene_name": "POLH",
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"gene_names_refseq": "POLH; RAD30A; RAD30; XP-V; XPV",
"protein_names_uniprotkb": "DNA polymerase eta; 2.7.7.7; RAD30 homolog A; Xeroderma pigmentosum variant type protein",
"protein_names_refseq": "DNA polymerase eta isoform 3; DNA polymerase eta transcript; RAD30 homolog A; polymerase (DNA directed), eta; polymerase (DNA) eta; xeroderma pigmentosum variant type protein",
"tax_id": 9606,
"disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); female breast cancer (Disease Ontology:DOID:0050671); xeroderma pigmentosum variant type (Disease Ontology:DOID:0110847)",
"pathway": " (hsa:5429); (R-HSA-110320); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537)",
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"publication_id_list": "10385124;10398605;10801132;10856253;10984059;11006276;11032022;11121129;11237011;11376341;11743006;11773631;12444249;12606586;12644469;14630940;14734526;15149598;15199127;15916957;16139798;16337601;16357261;16959974;17043239;17081983;17924679;18669648;19074197;19153606;19664995;19941829;20008555;20159558;20388628;20554254;21143968;21242293;21628590;21791603;22681887;22691049;22700975;22801543;22859295;22902628;23000965;23042605;23042607;23143872;23593430;23686288;23731732;24130121;24366607;24449906;24485656;24553286;24714562;24715725;24768535;25576301;26154972;26992070;27062441;27284197;27600516;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;29208956;29242379;29393594;29437277;29508533;29557506;30059200;30315122;30429286;30620550;30833945;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32502341;32574038;32938616;32983136;33141586;33298915;33592498;33691108;33981976;34211107;34561969;34932366;35051231;35254053;35318648;35580925;36010968;36241641;36284347;36702254;36758800;37129084;37468099;37541260;37938771;37984186;38212351;40307207;8658138;8751446",
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"function": "DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:16357261, PubMed:20388628, PubMed:24449906, PubMed:24553286, PubMed:38212351). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human DNA polymerase eta promotes RNA-templated error-free repair of DNA double-strand breaks., [RefSeq, PubMed]; Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (poleta)., [RefSeq, PubMed]; Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase eta and reduces DNA synthesis fidelity., [RefSeq, PubMed]; The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis. Review article, [RefSeq, PubMed]; The peroxidation-derived DNA adduct, 6-oxo-M1dG, is a strong block to replication by human DNA polymerase eta., [RefSeq, PubMed]; This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]",
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"type": "external"
},
{
"id": "3.1.26.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4",
"type": "external"
},
{
"id": "3.4.23.50",
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"type": "external"
},
{
"id": "3.1.11.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
},
{
"id": "6.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-",
"type": "external"
},
{
"id": "3.1.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-",
"type": "external"
},
{
"id": "3.6.4.6",
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"type": "external"
},
{
"id": "3.6.4.-",
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"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "5.6.2.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1",
"type": "external"
},
{
"id": "6.3.2.n3",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3",
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},
{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "2.3.1.48",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48",
"type": "external"
},
{
"id": "2.3.1.-",
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"type": "external"
},
{
"id": "2.7.7.102",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102",
"type": "external"
},
{
"id": "5.6.2.3",
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},
{
"id": "3.4.24.-",
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"type": "external"
},
{
"id": "2.7.7.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-",
"type": "external"
}
],
"go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0008270 zinc ion binding;GO:0003684 damaged DNA binding;GO:0046872 metal ion binding;GO:0016740 transferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0005657 replication fork",
"go_biological_process": "GO:0006281 DNA repair;GO:0009314 response to radiation;GO:0019985 translesion synthesis;GO:0000731 DNA synthesis involved in DNA repair;GO:0042276 error-prone translesion synthesis",
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"record_id": "Q9Y253-1",
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},
{
"uniprot_canonical_ac": "Q15436-1",
"uniprot_id": [
{
"id": "SC23A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q15436",
"type": "external"
}
],
"mass": 86161.0,
"length": 765,
"protein_name": "Protein transport protein Sec23A",
"gene_name": "SEC23A",
"organism": "Human",
"refseq_name": "protein transport protein Sec23A isoform 1",
"refseq_ac": [
{
"id": "NP_006355",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006355",
"type": "external"
}
],
"gene_names_uniprotkb": "SEC23A",
"gene_names_refseq": "CLSD; SEC23A; hSec23A",
"protein_names_uniprotkb": "Protein transport protein Sec23A; SEC23-related protein A; hSec23A",
"protein_names_refseq": "SEC23 homolog A, COPII coat complex component; SEC23-related protein A; Sec23 homolog A, coat complex II component; protein transport protein SEC23A; protein transport protein Sec23A isoform 1",
"tax_id": 9606,
"disease": "craniolenticulosutural dysplasia (Disease Ontology:DOID:0070307); congenital dyserythropoietic anemia type II (Disease Ontology:DOID:0111401); Roberts syndrome (Disease Ontology:DOID:5325)",
"pathway": " (hsa:10484); (R-HSA-1655829); (R-HSA-204005); (R-HSA-2132295); (R-HSA-5694530); (R-HSA-9705671); (R-HSA-983170)",
"pathway_count": 7,
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"class_list": "",
"function": "Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-29b-3p Inhibits the Inflammation Injury in Human Umbilical Vein Endothelial Cells by Regulating SEC23A., [RefSeq, PubMed]; Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients. Publication Status: Online-Only, [RefSeq, PubMed]; SEC23A confers ER stress resistance in gastric cancer by forming the ER stress-SEC23A-autophagy negative feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"total_reported_n_glycosites": 0,
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"total_n_glycosites": 0,
"total_o_glycosites": 34,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 6,
"reported_mutagensis": 4,
"reported_glycation": 0,
"reported_snv": 50,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 3,
"glyco_site_count": 34,
"binding_glycan_count": 0,
"secondary_ac_list": "B2R5P4;B3KXI2;Q8NE16",
"ec_number_list": [],
"go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane",
"go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0072659 protein localization to plasma membrane;GO:0015031 protein transport;GO:0016192 vesicle-mediated transport",
"synthesized_glycan_count": 0,
"hit_score": 37.6,
"record_id": "Q15436-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96EQ0-1",
"uniprot_id": [
{
"id": "SGTB_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96EQ0",
"type": "external"
}
],
"mass": 33429.0,
"length": 304,
"protein_name": "Small glutamine-rich tetratricopeptide repeat-containing protein beta",
"gene_name": "SGTB",
"organism": "Human",
"refseq_name": "small glutamine-rich tetratricopeptide repeat-containing protein beta",
"refseq_ac": [
{
"id": "NP_061945",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061945",
"type": "external"
}
],
"gene_names_uniprotkb": "SGTB; SGT2",
"gene_names_refseq": "SGT2; SGTB",
"protein_names_uniprotkb": "Small glutamine-rich tetratricopeptide repeat-containing protein beta; Beta-SGT; Small glutamine-rich protein with tetratricopeptide repeats 2",
"protein_names_refseq": "beta-SGT; small glutamine rich protein with tetratricopeptide repeats 2; small glutamine rich tetratricopeptide repeat containing beta; small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta; small glutamine-rich tetratricopeptide repeat-containing protein beta",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:54557)",
"pathway_count": 1,
"publication_count": 39,
"publication_id_list": "11237011;18669648;19413330;20068231;20166139;21406692;23186163;23301498;27862975;28832583;28904123;29242379;29557506;29789417;30429286;31092671;31844290;32157095;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34171305;34357683;34932366;35051231;35561310;35580925;36010968;36180981;36284347;37938771;38167697;38253038",
"class_list": "",
"function": "Bioinformatics identification of miR-514b-5p promotes NSCLC progression and induces PI3K/AKT and p38 pathways by targeting small glutamine-rich tetratricopeptide repeat-containing protein beta., [RefSeq, PubMed]; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity., [UniProtKB]; Dynamic stability of Sgt2 enables selective and privileged client handover in a chaperone triad. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_o_glycosites_with_glycan": 5,
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"reported_phosphosites": 3,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 11,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 5,
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"secondary_ac_list": "",
"ec_number_list": [],
"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0030544 Hsp70 protein binding",
"go_cellular_component": "GO:0016020 membrane;GO:0072380 TRC complex",
"go_biological_process": "GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0051260 protein homooligomerization;GO:0051291 protein heterooligomerization",
"synthesized_glycan_count": 0,
"hit_score": 4.6,
"record_id": "Q96EQ0-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96PU4-1",
"uniprot_id": [
{
"id": "UHRF2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96PU4",
"type": "external"
}
],
"mass": 89985.0,
"length": 802,
"protein_name": "E3 ubiquitin-protein ligase UHRF2",
"gene_name": "UHRF2",
"organism": "Human",
"refseq_name": "E3 ubiquitin-protein ligase UHRF2",
"refseq_ac": [
{
"id": "NP_690856",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_690856",
"type": "external"
}
],
"gene_names_uniprotkb": "UHRF2; NIRF; RNF107",
"gene_names_refseq": "NIRF; RNF107; TDRD23; UHRF2; URF2",
"protein_names_uniprotkb": "E3 ubiquitin-protein ligase UHRF2; 2.3.2.27; Np95-like RING finger protein; Np95/ICBP90-like RING finger protein; Nuclear protein 97; Nuclear zinc finger protein Np97; RING finger protein 107; RING-type E3 ubiquitin transferase UHRF2; Ubiquitin-like PHD and RING finger domain-containing protein 2; Ubiquitin-like-containing PHD and RING finger domains protein 2",
"protein_names_refseq": "E3 ubiquitin-protein ligase UHRF2; Np95-like ring finger protein; RING finger protein 107; RING-type E3 ubiquitin transferase UHRF2; np95/ICBP90-like RING finger protein; nuclear protein 97; nuclear zinc finger protein NP97; ubiquitin-like PHD and RING finger domain-containing protein 2; ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase; ubiquitin-like, containing PHD and RING finger domains, 2; ubiquitin-like-containing PHD and RING finger domains protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:115426); (R-HSA-3899300)",
"pathway_count": 2,
"publication_count": 105,
"publication_id_list": "11237011;11477070;11842083;12150977;12176013;12529333;12679040;12718889;14741369;15178429;15361834;15766567;15958389;15976810;16098147;16757475;16959974;17079232;17081986;17298944;17369852;17535915;17803295;17942393;18082607;18211901;18339323;18488044;18669648;19240082;19596686;19615980;19995069;20098713;20176810;20676127;21338522;21527249;21952639;22467880;22713328;23404503;23481700;23673342;24397554;24714562;24715725;24813944;25114211;25218447;25576301;25800734;26154972;26754738;26768311;26811146;27129234;27743347;27846572;28218747;28228285;28510447;28832583;28904123;28951215;29242379;29393594;29437277;29506131;29557506;29786170;29923055;30315122;30335751;30429286;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33848395;33876395;33912179;33936100;33968037;34087483;34111398;34162562;34400880;34509645;34826027;34932366;35051231;35580925;36010968;36241641",
"class_list": "",
"function": "E3 ubiquitin ligase that plays important roles in DNA methylation, histone modifications, cell cycle and DNA repair (PubMed:15178429, PubMed:23404503, PubMed:27743347, PubMed:29506131). Acts as a specific reader for 5-hydroxymethylcytosine (5hmC) and thereby recruits various substrates to these sites to ubiquitinate them (PubMed:24813944, PubMed:27129234). This activity also allows the maintenance of 5mC levels at specific genomic loci and regulates neuron-related gene expression (By similarity). Participates in cell cycle regulation by ubiquitinating cyclins CCND1 and CCNE1 and thereby inducing G1 arrest (PubMed:15178429, PubMed:15361834, PubMed:21952639). Also ubiquitinates PCNP leading to its degradation by the proteasome (PubMed:12176013, PubMed:14741369). Plays an active role in DNA damage repair by ubiquitinating p21/CDKN1A leading to its proteasomal degradation (PubMed:29923055). Also promotes DNA repair by acting as an interstrand cross-links (ICLs) sensor. Mechanistically, cooperates with UHRF1 to ensure recruitment of FANCD2 to ICLs, leading to FANCD2 monoubiquitination and subsequent activation (PubMed:30335751). Contributes to UV-induced DNA damage response by physically interacting with ATR in response to irradiation, thereby promoting ATR activation (PubMed:33848395)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; HBx promotes hepatocarcinogenesis by enhancing phosphorylation and blocking ubiquitinylation of UHRF2., [RefSeq, PubMed]; IGF2BP1/UHRF2 Axis Mediated by miR-98-5p to Promote the Proliferation of and Inhibit the Apoptosis of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; May participate in the G1/S transition regulation GeneRIF: Overexpression of NIRF induces cell cycle arrest at G1 phase. NIRF binds to the cyclin E-Cdk2 complex in vivo, and is phosphorylated by Cdk2 in vitro., [RefSeq, PubMed]; MiR-196a promotes the proliferation and migration of esophageal cancer via the UHRF2/TET2 axis., [RefSeq, PubMed]; NIRF has ubiquitination activity, the hallmark of a ubiquitin ligase. PCNP was readily ubiquitinated in 293 and COS-7 cells, and NIRF ubiquitinated PCNP in vitro as well as in vivo. GeneRIF: NIRF is a ubiquitin ligase that is capable of ubiquitinating PCNP (PEST-containing nuclear protein)., [RefSeq, PubMed]; NIRF is involved in cell-cycle regulation, [RefSeq, PubMed]; This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]., [RefSeq]; UHRF2 commissions the completion of DNA demethylation through allosteric activation by 5hmC and K33-linked ubiquitination of XRCC1., [RefSeq, PubMed]; UHRF2 promotes Hepatocellular Carcinoma Progression by Upregulating ErbB3/Ras/Raf Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"secondary_ac_list": "Q5VYR1;Q5VYR3;Q659C8;Q8TAG7",
"ec_number_list": [
{
"id": "2.3.2.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-",
"type": "external"
},
{
"id": "2.3.2.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27",
"type": "external"
}
],
"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0042393 histone binding;GO:0004842 ubiquitin-protein transferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000792 heterochromatin;GO:0005721 pericentric heterochromatin",
"go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0016925 protein sumoylation;GO:0030154 cell differentiation;GO:0016567 protein ubiquitination;GO:0051865 protein autoubiquitination",
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"hit_score": 10.8,
"record_id": "Q96PU4-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9H2H9-1",
"uniprot_id": [
{
"id": "S38A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9H2H9",
"type": "external"
}
],
"mass": 54048.0,
"length": 487,
"protein_name": "Sodium-coupled neutral amino acid symporter 1",
"gene_name": "SLC38A1",
"organism": "Human",
"refseq_name": "sodium-coupled neutral amino acid symporter 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001070952",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070952",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC38A1; ATA1; NAT2; SAT1; SNAT1",
"gene_names_refseq": "ATA1; NAT2; SAT1; SLC38A1; SNAT1",
"protein_names_uniprotkb": "Sodium-coupled neutral amino acid symporter 1; Amino acid transporter A1; N-system amino acid transporter 2; Solute carrier family 38 member 1; System A amino acid transporter 1; System N amino acid transporter 1",
"protein_names_refseq": "N-system amino acid transporter 2; amino acid transporter A1; amino acid transporter system A1; sodium-coupled neutral amino acid symporter 1 isoform 1; sodium-coupled neutral amino acid symporter 1; sodium-coupled neutral amino acid transporter 1; system A amino acid transporter 1; system N amino acid transporter 1",
"tax_id": 9606,
"disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:81539); (R-HSA-210455); (R-HSA-352230)",
"pathway_count": 3,
"publication_count": 121,
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"class_list": "",
"function": "Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]., [RefSeq]; CENPA promotes glutamine metabolism and tumor progression by up-regulating SLC38A1 in endometrial cancer., [RefSeq, PubMed]; CircRUNX1 functions as an oncogene in colorectal cancer by regulating circRUNX1/miR-485-5p/SLC38A1 axis., [RefSeq, PubMed]; METTL3-mediated m[6]A methylation of SLC38A1 stimulates cervical cancer growth. Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-432 and SLC38A1 as Predictors of Hepatocellular Carcinoma Complicated with Alcoholic Steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; OTUD5 promotes the growth of hepatocellular carcinoma by deubiquitinating and stabilizing SLC38A1. Publication Status: Online-Only, [RefSeq, PubMed]; Symporter that cotransports short-chain neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane (PubMed:10891391, PubMed:20599747). The transport is elctrogenic, pH dependent and driven by the Na(+) electrochemical gradient (PubMed:10891391). Participates in the astroglia-derived glutamine transport into GABAergic interneurons for neurotransmitter GABA de novo synthesis (By similarity). May also contributes to amino acid transport in placental trophoblasts (PubMed:20599747). Also regulates synaptic plasticity (PubMed:12388062)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]",
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"secondary_ac_list": "Q8NC61;Q8NCF8;Q96JX2;Q9H2Q2",
"ec_number_list": [],
"go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0005298 proline:sodium symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015186 L-glutamine transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030424 axon;GO:0043025 neuronal cell body",
"go_biological_process": "GO:0048167 regulation of synaptic plasticity;GO:0007565 female pregnancy;GO:0006865 amino acid transport;GO:0006868 glutamine transport;GO:0015804 neutral amino acid transport",
"synthesized_glycan_count": 0,
"hit_score": 12.8,
"record_id": "Q9H2H9-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P67870-1",
"uniprot_id": [
{
"id": "CSK2B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P67870",
"type": "external"
}
],
"mass": 24942.0,
"length": 215,
"protein_name": "Casein kinase II subunit beta",
"gene_name": "CSNK2B",
"organism": "Human",
"refseq_name": "casein kinase II subunit beta isoform 2",
"refseq_ac": [
{
"id": "NP_001269314",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269314",
"type": "external"
}
],
"gene_names_uniprotkb": "CSNK2B; CK2N; G5A",
"gene_names_refseq": "CK II beta; CK2B; CK2N; CSK2B; CSNK2B; Ckb1; Ckb2; G5A; POBINDS",
"protein_names_uniprotkb": "Casein kinase II subunit beta; CK II beta; Phosvitin; Protein G5a",
"protein_names_refseq": "Casein kinase II beta subunit; alternative name: G5a, phosvitin; casein kinase 2, beta polypeptide; casein kinase II subunit beta isoform 2; casein kinase II subunit beta; phosvitin; protein G5a",
"tax_id": 9606,
"disease": "Peters anomaly (Disease Ontology:DOID:0060673); anterior segment dysgenesis 6 (Disease Ontology:DOID:0080611); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); buphthalmos (Disease Ontology:DOID:11211); hydrophthalmos (Disease Ontology:DOID:11212); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leiomyoma (Disease Ontology:DOID:127); breast cancer (Disease Ontology:DOID:1612); breast adenocarcinoma (Disease Ontology:DOID:3458); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); myocardial infarction (Disease Ontology:DOID:5844); Poirier-Bienvenu neurodevelopmental syndrome (MONDO:MONDO:0032889)",
"pathway": " (hsa:1460); (R-HSA-1483191); (R-HSA-201688); (R-HSA-2514853); (R-HSA-445144); (R-HSA-6798695); (R-HSA-6804756); (R-HSA-6814122); (R-HSA-8934903); (R-HSA-8939243); (R-HSA-8948751); (R-HSA-9755511); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9929491); (R-HSA-9931529); (R-HSA-9931530)",
"pathway_count": 17,
"publication_count": 298,
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"class_list": "",
"function": "(Microbial infection) Upon infection with Epstein-Barr virus (EBV), the interaction with viral EBNA1 increases the association of CK2 with PML proteins, which increases PML phosphorylation by CK2, triggering the polyubiquitylation and degradation of PML (PubMed:20719947, PubMed:24216761). Seems to also suppress EBV reactivation by mediating ARK2N and JUN at the Z promoter which inhibits BZLF1 transcrition (PubMed:31341047)., [UniProtKB, PubMed, PubMed, PubMed]; CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling., [RefSeq, PubMed]; Long noncoding RNA HIKER regulates erythropoiesis in Monge's disease via CSNK2B. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of casein kinase II/CK2. As part of the kinase complex regulates the basal catalytic activity of the alpha subunit a constitutively active serine/threonine-protein kinase that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine (PubMed:11239457, PubMed:16818610). Participates in Wnt signaling (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]",
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"secondary_ac_list": "B0UXA9;P07312;P13862;Q4VX47",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0004674 protein serine/threonine kinase activity;GO:0005102 signaling receptor binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0045893 positive regulation of DNA-templated transcription;GO:0043537 negative regulation of blood vessel endothelial cell migration;GO:0016055 Wnt signaling pathway",
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"record_id": "P67870-1",
"record_type": "protein",
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},
{
"uniprot_canonical_ac": "O75478-1",
"uniprot_id": [
{
"id": "TAD2A_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75478",
"type": "external"
}
],
"mass": 51506.0,
"length": 443,
"protein_name": "Transcriptional adapter 2-alpha",
"gene_name": "TADA2A",
"organism": "Human",
"refseq_name": "transcriptional adapter 2-alpha isoform a",
"refseq_ac": [
{
"id": "NP_001159577",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577",
"type": "external"
}
],
"gene_names_uniprotkb": "TADA2A; KL04P; TADA2L",
"gene_names_refseq": "ADA2A; ADA2; KL04P; TADA2A; TADA2L; hADA2",
"protein_names_uniprotkb": "Transcriptional adapter 2-alpha; ADA2-like protein; Transcriptional adapter 2-like",
"protein_names_refseq": "ADA2-like protein; transcriptional adapter 2-alpha isoform a; transcriptional adapter 2-alpha; transcriptional adaptor 2 alpha",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6871); (R-HSA-3214847); (R-HSA-9772755)",
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"class_list": "",
"function": "ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis., [RefSeq, PubMed]; CircTADA2A up-regulates MAPK8 by targeting MiR-214-3p and recruiting EIF4A3 to promote the invasion and migration of non-small cell lung cancer cells., [RefSeq, PubMed]; Circular RNA TADA2A promotes proliferation and migration via modulating of miR638/KIAA0101 signal in nonsmall cell lung cancer., [RefSeq, PubMed]; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double-stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity (PubMed:22644376). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (PubMed:22644376)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]., [RefSeq]; Novel ADA2 Variants in a Romanian Case Series of DADA2., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0070461 SAGA-type complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex;GO:0072686 mitotic spindle",
"go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "P50613-1",
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{
"id": "CDK7_HUMAN",
"url": "https://www.uniprot.org/uniprot/P50613",
"type": "external"
}
],
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"protein_name": "Cyclin-dependent kinase 7",
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"organism": "Human",
"refseq_name": "cyclin-dependent kinase 7 isoform 2",
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{
"id": "NP_001310998",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310998",
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}
],
"gene_names_uniprotkb": "CDK7; CAK1; CAK; CDKN7; MO15; STK1",
"gene_names_refseq": "CAK1; CAK; CDK7; CDKN7; HCAK; MO15; STK1; p39MO15",
"protein_names_uniprotkb": "Cyclin-dependent kinase 7; 2.7.11.22; 2.7.11.23; 39 kDa protein kinase; CDK-activating kinase 1; Cell division protein kinase 7; Serine/threonine-protein kinase 1; TFIIH basal transcription factor complex kinase subunit; p39 Mo15",
"protein_names_refseq": "39 KDa protein kinase; CDK-activating kinase 1; TFIIH basal transcription factor complex kinase subunit; cell division protein kinase 7; cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase); cyclin-dependent kinase 7 isoform 2; homolog of Xenopus MO15 Cdk-activating kinase; kinase subunit of CAK; serine/threonine kinase stk1; serine/threonine protein kinase 1; serine/threonine protein kinase MO15",
"tax_id": 9606,
"disease": "primary congenital glaucoma (Disease Ontology:DOID:0050593); brachydactyly type A2 (Disease Ontology:DOID:0110965); Alzheimer's disease (Disease Ontology:DOID:10652); essential hypertension (Disease Ontology:DOID:10825); breast cancer (Disease Ontology:DOID:1612); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoglycemia (Disease Ontology:DOID:9993)",
"pathway": " (hsa:1022); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-69200); (R-HSA-69202); (R-HSA-69231); (R-HSA-69273); (R-HSA-69656); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8939236)",
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"function": "Activation of the CDK7 Gene, Coding for the Catalytic Subunit of the Cyclin-Dependent Kinase (CDK)-Activating Kinase (CAK) and General Transcription Factor II H, by the Trans-Activator Protein Tax of Human T-Cell Leukemia Virus Type-1. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription (PubMed:9852112, PubMed:19136461, PubMed:26257281, PubMed:28768201). As a cyclin-dependent kinase, CDK7 is activated by the binding to cyclin-H/CCNH and the CDK-activating kinase assembly factor MAT1 (PubMed:41100585). Catalytic subunit of the CDK-activating kinase (CAK) complex, a master regulator of CDK activity by catalyzing the activating threonine phosphorylation of CDKs (PubMed:41100585). CAK activates major mediators of cell cycle control, including CDK1, CDK2, CDK4 and CDK6, and plays a key role in regulating cell cycle progression (PubMed:41100585). CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the CTD of POLR2A, allowing its escape from the promoter and elongation of the transcripts (PubMed:9852112). Initiates transcription by RNA polymerase II by mediating phosphorylation of POLR2A at 'Ser-5' of the repetitive C-terminal domain (CTD) when POLR2A is in complex with DNA, promoting dissociation from DNA and initiation (PubMed:19136461, PubMed:26257281, PubMed:28768201). Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11 (PubMed:9372954, PubMed:9840937, PubMed:19136461, PubMed:26257281, PubMed:28768201, PubMed:41100585, PubMed:41100585). Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
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{
"id": "5.2.1.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
"type": "external"
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],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008094 ATP-dependent activity, acting on DNA;GO:0004693 cyclin-dependent protein serine/threonine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0050821 protein stabilization;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter",
"synthesized_glycan_count": 0,
"hit_score": 44.1,
"record_id": "P50613-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P24941-1",
"uniprot_id": [
{
"id": "CDK2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P24941",
"type": "external"
}
],
"mass": 33930.0,
"length": 298,
"protein_name": "Cyclin-dependent kinase 2",
"gene_name": "CDK2",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 2 isoform 3",
"refseq_ac": [
{
"id": "NP_001277159",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277159",
"type": "external"
}
],
"gene_names_uniprotkb": "CDK2; CDKN2",
"gene_names_refseq": "CDK2; CDKN2; p33(CDK2)",
"protein_names_uniprotkb": "Cyclin-dependent kinase 2; 2.7.11.22; Cell division protein kinase 2; p33 protein kinase",
"protein_names_refseq": "cdc2-related protein kinase; cell division protein kinase 2; cyclin-dependent kinase 2 isoform 3; p33 protein kinase",
"tax_id": 9606,
"disease": "prostate cancer (Disease Ontology:DOID:10283); interstitial cystitis (Disease Ontology:DOID:13949); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); renal cell carcinoma (Disease Ontology:DOID:4450)",
"pathway": " (hsa:1017); (R-HSA-1538133); (R-HSA-171319); (R-HSA-176187); (R-HSA-176408); (R-HSA-187577); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-5693607); (R-HSA-6804116); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-68911); (R-HSA-68949); (R-HSA-68962); (R-HSA-69017); (R-HSA-69200); (R-HSA-69202); (R-HSA-69231); (R-HSA-69273); (R-HSA-69563); (R-HSA-69656); (R-HSA-8849470); (R-HSA-912446); (R-HSA-9616222); (R-HSA-9661069); (R-HSA-9825892); (R-HSA-983231)",
"pathway_count": 28,
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"class_list": "",
"function": "Hsa_circ_0005320 affects cell proliferation and the cell cycle via the IGF2BP3/CDK2 axis in bladder cancer., [RefSeq, PubMed]; NaV1.1 contributes to the cell cycle of human mesenchymal stem cells by regulating AKT and CDK2., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis (PubMed:10499802, PubMed:10884347, PubMed:10995386, PubMed:10995387, PubMed:11051553, PubMed:11113184, PubMed:12944431, PubMed:15800615, PubMed:17495531, PubMed:19966300, PubMed:20935635, PubMed:21262353, PubMed:21596315, PubMed:28216226, PubMed:28666995). Phosphorylates CABLES1, CTNNB1, CDK2AP2, ERCC6, NBN, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, SUV39H1, EZH2 (PubMed:10499802, PubMed:10995386, PubMed:10995387, PubMed:11051553, PubMed:11113184, PubMed:12944431, PubMed:15800615, PubMed:19966300, PubMed:20935635, PubMed:21262353, PubMed:21596315, PubMed:24728993, PubMed:28216226). Triggers duplication of centrosomes and DNA (PubMed:11051553). Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK1 at the centrosome and in the nucleus (PubMed:18372919, PubMed:19238148, PubMed:19561645). Crucial role in orchestrating a fine balance between cellular proliferation, cell death, and DNA repair in embryonic stem cells (ESCs) (PubMed:18372919, PubMed:19238148, PubMed:19561645). Activated by the CDK-activating kinase (CAK) complex consisting of CDK7, cyclin-H/CCNH and MAT1, which is a master regulator of CDK activity (PubMed:41100585). Activity of CDK2 is maximal during S phase and G2; activated by interaction with cyclin E during the early stages of DNA synthesis to permit G1-S transition, and subsequently activated by cyclin A2 (cyclin A1 in germ cells) during the late stages of DNA replication to drive the transition from S phase to mitosis, the G2 phase (PubMed:18372919, PubMed:19238148, PubMed:19561645). EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing (PubMed:20935635). Cyclin E/CDK2 prevents oxidative stress-mediated Ras-induced senescence by phosphorylating MYC (PubMed:19966300). Involved in G1-S phase DNA damage checkpoint that prevents cells with damaged DNA from initiating mitosis; regulates homologous recombination-dependent repair by phosphorylating BRCA2, this phosphorylation is low in S phase when recombination is active, but increases as cells progress towards mitosis (PubMed:15800615, PubMed:20195506, PubMed:21319273). In response to DNA damage, double-strand break repair by homologous recombination a reduction of CDK2-mediated BRCA2 phosphorylation (PubMed:15800615). Involved in regulation of telomere repair by mediating phosphorylation of NBN (PubMed:28216226). Phosphorylation of RB1 disturbs its interaction with E2F1 (PubMed:10499802). NPM1 phosphorylation by cyclin E/CDK2 promotes its dissociates from unduplicated centrosomes, thus initiating centrosome duplication (PubMed:11051553). Cyclin E/CDK2-mediated phosphorylation of NPAT at G1-S transition and until prophase stimulates the NPAT-mediated activation of histone gene transcription during S phase (PubMed:10995386, PubMed:10995387). Required for vitamin D-mediated growth inhibition by being itself inactivated (PubMed:20147522). Involved in the nitric oxide- (NO) mediated signaling in a nitrosylation/activation-dependent manner (PubMed:20079829). USP37 is activated by phosphorylation and thus triggers G1-S transition (PubMed:21596315). CTNNB1 phosphorylation regulates insulin internalization (PubMed:21262353). Phosphorylates FOXP3 and negatively regulates its transcriptional activity and protein stability (By similarity). Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878). Acts as a regulator of the phosphatidylinositol 3-kinase/protein kinase B signal transduction by mediating phosphorylation of the C-terminus of protein kinase B (PKB/AKT1 and PKB/AKT2), promoting its activation (PubMed:24670654)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]",
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"biomarker_type": "",
"glycan_count": 1,
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"id": "2.7.1.153",
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"id": "2.7.7.-",
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],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome",
"go_biological_process": "GO:0043247 telomere maintenance in response to DNA damage;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006468 protein phosphorylation;GO:0007165 signal transduction",
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},
{
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"refseq_name": "cyclin-dependent kinase inhibitor 1C isoform a",
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{
"id": "NP_000067",
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"tax_id": 9606,
"disease": "IMAGe syndrome (Disease Ontology:DOID:0050885); pre-eclampsia (Disease Ontology:DOID:10591); lung cancer (Disease Ontology:DOID:1324); hyperinsulinism (Disease Ontology:DOID:2018); Beckwith-Wiedemann syndrome (Disease Ontology:DOID:5572); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:1028); (R-HSA-69205); (R-HSA-69231); (R-HSA-9661069)",
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"function": "CDKN1C gene is imprinted, with preferential expression from the maternal allele., [RefSeq, PubMed]; Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants., [RefSeq, PubMed]; Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57[Kip2]. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]",
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},
{
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{
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{
"id": "NP_001034463",
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],
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"function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]",
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},
{
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{
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],
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"length": 478,
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"organism": "Human",
"refseq_name": "zinc finger and SCAN domain-containing protein 26 isoform a",
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{
"id": "NP_001018854",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018854",
"type": "external"
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],
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]",
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{
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"length": 2647,
"protein_name": "Filamin-A",
"gene_name": "FLNA",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104026",
"type": "external"
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],
"gene_names_uniprotkb": "FLNA; FLN1; FLN",
"gene_names_refseq": "ABP-280; ABPX; CSBS; CVD1; FGS2; FLN-A; FLN1; FLNA; FLN; FMD; MNS; NHBP; OPD1; OPD2; OPD; XLVD; XMVD",
"protein_names_uniprotkb": "Filamin-A; ABP-280; Actin-binding protein 280; Alpha-filamin; Endothelial actin-binding protein; FLN-A; Filamin-1; Non-muscle filamin",
"protein_names_refseq": "actin binding protein 280; alpha-filamin; endothelial actin-binding protein; epididymis secretory sperm binding protein; filamin A, alpha; filamin-1; filamin-A isoform 2; non-muscle filamin",
"tax_id": 9606,
"disease": "periventricular nodular heterotopia (Disease Ontology:DOID:0050454); myofibrillar myopathy 5 (Disease Ontology:DOID:0080096); X-linked chronic idiopathic intestinal pseudo-obstruction (Disease Ontology:DOID:0080681); distal myopathy 4 (Disease Ontology:DOID:0111190); X-linked cardiac valvular dysplasia (Disease Ontology:DOID:0111765); otopalatodigital syndrome spectrum disorder (Disease Ontology:DOID:0111782); otopalatodigital syndrome type 1 (Disease Ontology:DOID:0111783); otopalatodigital syndrome type 2 (Disease Ontology:DOID:0111784); frontometaphyseal dysplasia (Disease Ontology:DOID:0111785); frontometaphyseal dysplasia 1 (Disease Ontology:DOID:0111786); Melnick-Needles syndrome (Disease Ontology:DOID:0111788); terminal osseous dysplasia (Disease Ontology:DOID:0112149); tuberous sclerosis (Disease Ontology:DOID:13515); thoracic aortic aneurysm (Disease Ontology:DOID:14004); FG syndrome (Disease Ontology:DOID:14711); epilepsy (Disease Ontology:DOID:1826); osteochondrodysplasia (Disease Ontology:DOID:2256); craniosynostosis (Disease Ontology:DOID:2340); myopathy (Disease Ontology:DOID:423); mitral valve prolapse (Disease Ontology:DOID:988)",
"pathway": " (hsa:2316); (R-HSA-114608); (R-HSA-430116); (R-HSA-446353); (R-HSA-5627123); (R-HSA-8983711)",
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"class_list": "",
"function": "Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival., [RefSeq, PubMed]; Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863)., [UniProtKB, PubMed, UniProtKB, PubMed]; The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]., [RefSeq]",
"predicted_glycosites": 2,
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"biomarker_type": "diagnostic",
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"secondary_ac_list": "E9KL45;Q5HY53;Q5HY55;Q8NF52",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0051015 actin filament binding;GO:0001664 G protein-coupled receptor binding;GO:0015459 potassium channel regulator activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0032233 positive regulation of actin filament bundle assembly;GO:0007597 blood coagulation, intrinsic pathway;GO:0043066 negative regulation of apoptotic process;GO:0071526 semaphorin-plexin signaling pathway",
"synthesized_glycan_count": 0,
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"record_id": "P21333-1",
"record_type": "protein",
"filter_code": "1000000.1100111.010000.000000000001000000.1100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q05084-1",
"uniprot_id": [
{
"id": "ICA69_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q05084",
"type": "external"
}
],
"mass": 54645.0,
"length": 483,
"protein_name": "Islet cell autoantigen 1",
"gene_name": "ICA1",
"organism": "Human",
"refseq_name": "islet cell autoantigen 1 isoform a",
"refseq_ac": [
{
"id": "NP_001129492",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129492",
"type": "external"
}
],
"gene_names_uniprotkb": "ICA1",
"gene_names_refseq": "ICA1; ICA69; ICAp69",
"protein_names_uniprotkb": "Islet cell autoantigen 1; 69 kDa islet cell autoantigen; ICA69; ICAp69; Islet cell autoantigen p69; p69",
"protein_names_refseq": "69 kDa islet cell autoantigen; diabetes mellitus type I autoantigen; islet cell autoantigen 1 isoform a; islet cell autoantigen 1, 69kDa; islet cell autoantigen p69; testicular tissue protein Li 162",
"tax_id": 9606,
"disease": "diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:3382)",
"pathway_count": 1,
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"class_list": "",
"function": "ICA1 affects APP processing through the PICK1-PKCalpha signaling pathway., [RefSeq, PubMed]; May play a role in neurotransmitter secretion., [UniProtKB]; Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior, [RefSeq, PubMed]; This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0019904 protein domain specific binding;GO:0140090 membrane curvature sensor activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030667 secretory granule membrane;GO:0030672 synaptic vesicle membrane",
"go_biological_process": "GO:0097753 membrane bending;GO:0051046 regulation of secretion;GO:0006836 neurotransmitter transport",
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},
{
"uniprot_canonical_ac": "Q9UNA1-1",
"uniprot_id": [
{
"id": "RHG26_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UNA1",
"type": "external"
}
],
"mass": 92235.0,
"length": 814,
"protein_name": "Rho GTPase-activating protein 26",
"gene_name": "ARHGAP26",
"organism": "Human",
"refseq_name": "rho GTPase-activating protein 26 isoform b",
"refseq_ac": [
{
"id": "NP_001129080",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129080",
"type": "external"
}
],
"gene_names_uniprotkb": "ARHGAP26; GRAF; KIAA0621; OPHN1L",
"gene_names_refseq": "ARHGAP26; GRAF1; GRAF; OPHN1L1; OPHN1L",
"protein_names_uniprotkb": "Rho GTPase-activating protein 26; GRAF1; GTPase regulator associated with focal adhesion kinase; Oligophrenin-1-like protein; Rho-type GTPase-activating protein 26",
"protein_names_refseq": "GTPase regulator associated with focal adhesion kinase pp125(FAK); oligophrenin-1-like protein; rho GTPase-activating protein 26 isoform b",
"tax_id": 9606,
"disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); Billuart-type X-linked syndromic intellectual developmental disorder (Disease Ontology:DOID:0080311); acute myelomonocytic leukemia (Disease Ontology:DOID:0081082)",
"pathway": " (hsa:23092); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013423)",
"pathway_count": 11,
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"class_list": "",
"function": "ARHGAP26/GRAF1 orchestrates actin remodeling and membrane dynamics to drive mitochondrial clearance and promote fuel flexibility., [RefSeq, PubMed]; Associates with MICAL1 on the endosomal membrane to promote Rab8-Rab10-dependent tubule extension. After dissociation of MICAL1, recruits WDR44 which connects the endoplasmic reticulum (ER) with the endosomal tubule, thereby participating in the export of a subset of neosynthesized proteins., [UniProtKB, PubMed]; Associations of ARHGAP26 Polymorphisms with Alzheimer's Disease and Cardiovascular Disease., [RefSeq, PubMed]; CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; GRAF is a negative regulator of RhoA in vivo, it acts as a GTP-ase activating protein (GAP) for RhoA and may be a downstream effector of RhoA in certain cell types., [RefSeq, PubMed]; GRAF1 integrates PINK1-Parkin signaling and actin dynamics to mediate cardiac mitochondrial homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase-activating protein for RHOA and CDC42. Facilitates mitochondrial quality control by promoting Parkin-mediated recruitment of autophagosomes to damaged mitochondria (PubMed:38081847). Negatively regulates the growth of human parainfluenza virus type 2 by inhibiting hPIV-2-mediated RHOA activation via interaction with two of its viral proteins P and V (PubMed:27512058)., [UniProtKB, PubMed, PubMed]; Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]., [RefSeq]; Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 1,
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"secondary_ac_list": "O75117;Q5D035;Q9BYS6;Q9BYS7;Q9UJ00",
"ec_number_list": [],
"go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0030674 protein-macromolecule adaptor activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0010008 endosome membrane",
"go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0000423 mitophagy",
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},
{
"uniprot_canonical_ac": "P49336-1",
"uniprot_id": [
{
"id": "CDK8_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49336",
"type": "external"
}
],
"mass": 53284.0,
"length": 464,
"protein_name": "Cyclin-dependent kinase 8",
"gene_name": "CDK8",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 8 isoform 1",
"refseq_ac": [
{
"id": "NP_001251",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001251",
"type": "external"
}
],
"gene_names_uniprotkb": "CDK8",
"gene_names_refseq": "CDK8; IDDHBA; K35",
"protein_names_uniprotkb": "Cyclin-dependent kinase 8; 2.7.11.22; 2.7.11.23; Cell division protein kinase 8; Mediator complex subunit CDK8; Mediator of RNA polymerase II transcription subunit CDK8; Protein kinase K35",
"protein_names_refseq": "CDK8 protein kinase; cell division protein kinase 8; cyclin-dependent kinase 8 isoform 1; mediator complex subunit CDK8; mediator of RNA polymerase II transcription subunit CDK8; protein kinase K35",
"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 87 (Disease Ontology:DOID:0112221); dilated cardiomyopathy (Disease Ontology:DOID:12930); intellectual developmental disorder with hypotonia and behavioral abnormalities (MONDO:MONDO:0032897)",
"pathway": " (hsa:1024); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-212436); (R-HSA-2173796); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)",
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"id": "NP_001229734",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229734",
"type": "external"
}
],
"gene_names_uniprotkb": "BRDT",
"gene_names_refseq": "BRD6; BRDT; CT9; SPGF21",
"protein_names_uniprotkb": "Bromodomain testis-specific protein; CT9; Cancer/testis antigen 9; RING3-like protein",
"protein_names_refseq": "RING3-like protein; bromodomain testis-specific protein isoform b; bromodomain testis-specific protein; bromodomain, testis-specific; cancer/testis antigen 9",
"tax_id": 9606,
"disease": "spermatogenic failure 21 (Disease Ontology:DOID:0070163); azoospermia (Disease Ontology:DOID:14227); oligospermia (Disease Ontology:DOID:14228)",
"pathway": " (hsa:676)",
"pathway_count": 1,
"publication_count": 34,
"publication_id_list": "10704737;11237011;15647849;17344846;20538714;22464331;22901802;22971749;23481700;25593309;26992070;28121444;28199965;28514659;28945351;29242379;29393594;29493099;29557506;30201002;30315122;31844290;32157095;32938616;32983136;33125143;33141586;33637650;33658703;33968037;35051231;35580925;37217939;9367677",
"class_list": "",
"function": "BRDT is a novel regulator of eIF4EBP1 in renal cell carcinoma., [RefSeq, PubMed]; BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; BRDT-NY gene is an alternatively spliced variant that may have an important role in the process of spermatogenesis and may be correlated with male infertility, [RefSeq, PubMed]; Bromodomain protein BRDT directs DeltaNp63 function and super-enhancer activity in a subset of esophageal squamous cell carcinomas., [RefSeq, PubMed]; Discovery and characterization of bromodomain 2-specific inhibitors of BRDT., [RefSeq, PubMed]; FBP1 modulates the sensitivity of pancreatic cancer cells to BET inhibitors by decreasing the expression of c-Myc. These findings highlight FBP1 could be used as a therapeutic niche for patient-tailored therapies Publication Status: Online-Only, [RefSeq, PubMed]; Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis (PubMed:22464331, PubMed:22901802). Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time (PubMed:22901802). In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA (PubMed:22901802). Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at 'Lys-8' (H4K8ac), while it is not able to bind H4 butyrylated at 'Lys-5' (H4K5ac) (By similarity). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3'-UTR truncation of specific mRNAs in post-meiotic spermatids (By similarity). Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The bromodomain and extraterminal domain (BET) family consists of BRDT, BRD2, BRD3, and BRD4, each containing 2 bromodomains located N-terminal to extraterminal domain, which is located near C-terminus. Data suggest that 10 distinct acylations participate in binding of BET family proteins to histone 4 (oligopeptide fragments used here); C-terminal bromodomains do not cooperatively bind multiple acylation sites., [RefSeq, PubMed]",
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"reported_snv": 11,
"reported_interactions": 0,
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"secondary_ac_list": "A6NF68;B7Z811;B7Z890;B7ZAX7;D3DT32;O14789;Q05DQ4;Q6P5T1;Q7Z4A6;Q8IWI6",
"ec_number_list": [],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0004674 protein serine/threonine kinase activity;GO:0042393 histone binding;GO:0140008 histone H4 reader activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006397 mRNA processing;GO:0010628 positive regulation of gene expression",
"synthesized_glycan_count": 0,
"hit_score": 3.7,
"record_id": "Q58F21-1",
"record_type": "protein",
"filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6IMN6-1",
"uniprot_id": [
{
"id": "CAPR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6IMN6",
"type": "external"
}
],
"mass": 125925.0,
"length": 1127,
"protein_name": "Caprin-2",
"gene_name": "CAPRIN2",
"organism": "Human",
"refseq_name": "caprin-2 isoform 1",
"refseq_ac": [
{
"id": "NP_001002259",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002259",
"type": "external"
}
],
"gene_names_uniprotkb": "CAPRIN2; C1QDC1; EEG1; KIAA1873; RNG140",
"gene_names_refseq": "C1QDC1; CAPRIN2; EEG-1; EEG1; RNG140",
"protein_names_uniprotkb": "Caprin-2; C1q domain-containing protein 1; Cytoplasmic activation/proliferation-associated protein 2; Gastric cancer multidrug resistance-associated protein; Protein EEG-1; RNA granule protein 140",
"protein_names_refseq": "C1q domain-containing protein 1; RNA granule protein 140; caprin-2 isoform 1; cytoplasmic activation/proliferation-associated protein 2; gastric cancer multidrug resistance-associated protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:65981)",
"pathway_count": 1,
"publication_count": 32,
"publication_id_list": "11237011;14593112;14764709;16094384;17287340;18762581;20516077;24715725;25331957;26552660;27821587;28411811;28657654;29437277;29557506;30379171;31844290;32157095;32357974;32691935;32983136;33298915;33592498;33912179;33968037;34171305;34405274;34511033;35051231;36010968;36710479;37217939",
"class_list": "",
"function": "Caprin-2 promotes activation of the canonical Wnt signaling pathway by regulating LRP5/6 phosphorylation., [RefSeq, PubMed]; Findings revealed an unrecognized role of Caprin-2 in facilitating LRP5/6 constitutive phosphorylation at G2/M through forming a quaternary complex with CDK14, Cyclin Y, and LRP5/6., [RefSeq, PubMed]; LINC00941 promotes oral squamous cell carcinoma progression via activating CAPRIN2 and canonical WNT/beta-catenin signaling pathway., [RefSeq, PubMed]; Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the Susceptibility to High Myopia-Induced Cataract in Han Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes phosphorylation of the Wnt coreceptor LRP6, leading to increased activity of the canonical Wnt signaling pathway (PubMed:18762581). Facilitates constitutive LRP6 phosphorylation by CDK14/CCNY during G2/M stage of the cell cycle, which may potentiate cells for Wnt signaling (PubMed:27821587). May regulate the transport and translation of mRNAs, modulating for instance the expression of proteins involved in synaptic plasticity in neurons (By similarity). Involved in regulation of growth as erythroblasts shift from a highly proliferative state towards their terminal phase of differentiation (PubMed:14593112). May be involved in apoptosis (PubMed:14593112)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Regulated expression of EEG-1 is involved in the orchestrated regulation of growth that occurs as erythroblasts shift from a highly proliferative state toward their terminal phase of differentiation., [RefSeq, PubMed]; The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B antisense RNA 1 induces the proliferation and migration of colorectal cancer by miR-378b/CAPRIN2 axis., [RefSeq, PubMed]",
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"secondary_ac_list": "E4NKG2;Q149P6;Q149P7;Q6IMN5;Q7Z371;Q8TE70;Q8TE71;Q96RN6;Q9H667;Q9HAL4",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0005102 signaling receptor binding;GO:0046872 metal ion binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043235 receptor complex",
"go_biological_process": "GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030308 negative regulation of cell growth;GO:0017148 negative regulation of translation;GO:0050775 positive regulation of dendrite morphogenesis",
"synthesized_glycan_count": 0,
"hit_score": 3.7,
"record_id": "Q6IMN6-1",
"record_type": "protein",
"filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UKT4-1",
"uniprot_id": [
{
"id": "FBX5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKT4",
"type": "external"
}
],
"mass": 50146.0,
"length": 447,
"protein_name": "F-box only protein 5",
"gene_name": "FBXO5",
"organism": "Human",
"refseq_name": "F-box only protein 5 isoform b",
"refseq_ac": [
{
"id": "NP_001135994",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135994",
"type": "external"
}
],
"gene_names_uniprotkb": "FBXO5; EMI1; FBX5",
"gene_names_refseq": "EMI1; FBX5; FBXO5; Fbxo31",
"protein_names_uniprotkb": "F-box only protein 5; Early mitotic inhibitor 1",
"protein_names_refseq": "F-box only protein 5 isoform b; F-box only protein 5; F-box protein Fbx5; early fission inhibitory protein 1; early mitotic inhibitor 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26271); (R-HSA-174113); (R-HSA-176408); (R-HSA-176417); (R-HSA-68881); (R-HSA-69205)",
"pathway_count": 6,
"publication_count": 112,
"publication_id_list": "10023660;10228158;10454584;10531035;10548110;10597240;10692433;11340163;11598127;11959842;11988738;12782299;12791267;14743218;14990995;15014447;15148369;15469984;15510213;16439210;16921029;17234884;17485488;17875940;19211842;20068231;20717963;22645359;23186163;23481700;23708001;23708605;24714562;24715725;25418920;25505266;25576301;25880248;26083744;26154972;26375851;26728094;26758079;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28411811;28832583;28834231;29242379;29393594;29437277;29557506;29632046;29786170;29850565;29875408;30315122;30410026;30524438;31092671;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34561969;34932366;35494241;35561310;36010968;36241641;37168048;38041032;39358461;39894887;7623816;7929342;8114698;8288595;8618861;8943353;9020173;9520412;9662327;9778043",
"class_list": "",
"function": "Effect of Emi1 gene silencing on the proliferation and invasion of human breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Expression significance of Emi1, UBCH10 and CyclinB1 in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of EMI1 compromises chromosome stability and is associated with cellular transformation in colonic epithelial cell contexts., [RefSeq, PubMed]; Regulator of APC activity during mitotic and meiotic cell cycle (PubMed:16921029, PubMed:17234884, PubMed:17485488, PubMed:17875940, PubMed:23708001, PubMed:23708605). During mitotic cell cycle plays a role as both substrate and inhibitor of APC-FZR1 complex (PubMed:16921029, PubMed:17234884, PubMed:17485488, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:29875408). During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase (PubMed:29875408). Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell-cycle commitment (PubMed:29875408). As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box coreceptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain elongation by APC by preventing the UBE2C and UBE2S activities (PubMed:16921029, PubMed:23708001, PubMed:23708605). Plays a role in genome integrity preservation by coordinating DNA replication with mitosis through APC inhibition in interphase to stabilize CCNA2 and GMNN in order to promote mitosis and prevent rereplication and DNA damage-induced cellular senescence (PubMed:17234884, PubMed:17485488, PubMed:17875940). During oocyte maturation, plays a role in meiosis through inactivation of APC-FZR1 complex. Inhibits APC through RPS6KA2 interaction that increases FBXO5 affiniy for CDC20 leading to the metaphase arrest of the second meiotic division before fertilization (By similarity). Controls entry into the first meiotic division through inactivation of APC-FZR1 complex (By similarity). Promotes migration and osteogenic differentiation of mesenchymal stem cells (PubMed:29850565)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]., [RefSeq]",
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"secondary_ac_list": "B3KNX5;Q5TF47;Q8WV29;Q9UGC8",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:1990948 ubiquitin ligase inhibitor activity;GO:0010997 anaphase-promoting complex binding;GO:0140678 molecular function inhibitor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol",
"go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division;GO:1905322 positive regulation of mesenchymal stem cell migration;GO:0006974 DNA damage response",
"synthesized_glycan_count": 0,
"hit_score": 11.5,
"record_id": "Q9UKT4-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "A6NC98-1",
"uniprot_id": [
{
"id": "CC88B_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6NC98",
"type": "external"
}
],
"mass": 164809.0,
"length": 1476,
"protein_name": "Coiled-coil domain-containing protein 88B",
"gene_name": "CCDC88B",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 88B",
"refseq_ac": [
{
"id": "NP_115627",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC88B; BRLZ",
"gene_names_refseq": "BRLZ; CCDC88B; CCDC88; HKRP3; gipie",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 88B; Brain leucine zipper domain-containing protein; Gipie; HkRP3; Hook-related protein 3",
"protein_names_refseq": "78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress; GRP78-interacting protein induced by ER stress; brain leucine zipper domain-containing protein; brain leucine zipper protein; coiled-coil domain containing 88B; coiled-coil domain containing 88; coiled-coil domain-containing protein 88B; hook-related protein 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:283234)",
"pathway_count": 1,
"publication_count": 40,
"publication_id_list": "11230166;11237011;19690332;20058876;21289099;22837380;23481700;24275569;24714562;24715725;25576301;25762780;26728094;26992070;27846572;27920218;28218747;28228285;28832583;29030607;29242379;29437277;29493099;29557506;29632046;30315122;30379171;30410026;31844290;32387766;32502341;32897882;32938616;32983136;33298915;33981976;34509645;34932366;35051231;35580925",
"class_list": "",
"function": "A critical function of CCDC88B in colonic inflammation and inflammatory bowel disease Publication Status: Online-Only, [RefSeq, PubMed]; A genotype dataset found a sarcoidosis risk locus on chromosome 11q13.1, a risk region for Crohn disease. An allele-dependent expression of CCDC88B was found in bronchoalveolar lavage samples of German, Swedish and Czech patients with sarcoidosis., [RefSeq, PubMed]; Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering to MTOC (PubMed:25762780). Interacts with HSPA5 and stabilizes the interaction between HSPA5 and ERN1, leading to suppression of ERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099)., [UniProtKB, PubMed, UniProtKB, PubMed]; Data show that a novel Girdin family protein, Gipie, is expressed in endothelial cells, where it interacts with GRP78, a master regulator of the UPR, and that Gipie/GRP78 interaction controls the IRE1-JNK signaling pathway., [RefSeq, PubMed]; Results demonstrate an important role for HkRP3 in regulating the clustering of lytic granules and MTOC repositioning during the development of NK cell-mediated killing., [RefSeq, PubMed]; This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]., [RefSeq]",
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"reported_phosphosites": 7,
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"reported_snv": 9,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
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"secondary_ac_list": "A5D8Y5;B5MDM2;Q05BL2;Q6RUV3;Q8N1Q6;Q8NF44;Q9H0H1",
"ec_number_list": [],
"go_molecular_function": "GO:0008017 microtubule binding;GO:0051959 dynein light intermediate chain binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol",
"go_biological_process": "GO:0001819 positive regulation of cytokine production;GO:0042102 positive regulation of T cell proliferation;GO:0050870 positive regulation of T cell activation;GO:0042832 defense response to protozoan;GO:0030705 cytoskeleton-dependent intracellular transport",
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},
{
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"type": "external"
}
],
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"length": 404,
"protein_name": "G1/S-specific cyclin-E2",
"gene_name": "CCNE2",
"organism": "Human",
"refseq_name": "G1/S-specific cyclin-E2",
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{
"id": "NP_477097",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_477097",
"type": "external"
}
],
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"gene_names_refseq": "CCNE2; CYCE2",
"protein_names_uniprotkb": "G1/S-specific cyclin-E2",
"protein_names_refseq": "G1/S-specific cyclin-E2",
"tax_id": 9606,
"disease": "castration-resistant prostate carcinoma (Disease Ontology:DOID:0080909); prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)",
"pathway": " (hsa:9134); (R-HSA-1538133); (R-HSA-187577); (R-HSA-2559586); (R-HSA-390471); (R-HSA-6804116); (R-HSA-69017); (R-HSA-69200); (R-HSA-69202); (R-HSA-69231); (R-HSA-69563); (R-HSA-9661069)",
"pathway_count": 12,
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"class_list": "",
"function": "Downregulation of miR-503-5p Promotes the Development of Pancreatic Cancer by Targeting Cyclin E2., [RefSeq, PubMed]; Essential for the control of the cell cycle at the late G1 and early S phase., [UniProtKB, PubMed, PubMed, PubMed]; Genome-wide chromatin contacts of super-enhancer-associated lncRNA identify LINC01013 as a regulator of fibrosis in the aortic valve. Publication Status: Online-Only, [RefSeq, PubMed]; Screening Differential CircRNAs Expression Profiles Reveals the Regulatory Role of the has_circTPT1_003-has-miR-218-5p-CCNE2/SMC4 Signaling Axis in Bladder Carcinoma Progression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "O95439",
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{
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{
"id": "CDK6_HUMAN",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138778",
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],
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"protein_names_uniprotkb": "Cyclin-dependent kinase 6; 2.7.11.22; Cell division protein kinase 6; Serine/threonine-protein kinase PLSTIRE",
"protein_names_refseq": "cell division protein kinase 6; cyclin-dependent kinase 6; serine/threonine-protein kinase PLSTIRE",
"tax_id": 9606,
"disease": "medulloblastoma (Disease Ontology:DOID:0050902); primary autosomal recessive microcephaly 12 (Disease Ontology:DOID:0070284); intellectual disability (Disease Ontology:DOID:1059); cystinosis (Disease Ontology:DOID:1064); interstitial cystitis (Disease Ontology:DOID:13949); cancer (Disease Ontology:DOID:162); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); non-functioning pancreatic endocrine tumor (Disease Ontology:DOID:7698); encephalitis (Disease Ontology:DOID:9588)",
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"function": "CircPRMT5 promotes progression of osteosarcoma by recruiting CNBP to regulate the translation and stability of CDK6 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Kinase-inactivated CDK6 preserves the long-term functionality of adult hematopoietic stem cells., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and negatively regulates cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]., [RefSeq]",
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19",
"type": "external"
},
{
"id": "4.1.1.32",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32",
"type": "external"
},
{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
"type": "external"
},
{
"id": "2.7.11.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34",
"type": "external"
},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
"type": "external"
}
],
"go_molecular_function": "GO:0005524 ATP binding;GO:0098770 FBXO family protein binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0030332 cyclin binding;GO:0106310 protein serine kinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol",
"go_biological_process": "GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0051301 cell division;GO:2000145 regulation of cell motility;GO:0000086 G2/M transition of mitotic cell cycle",
"synthesized_glycan_count": 0,
"hit_score": 35.1,
"record_id": "Q00534-1",
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"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O14519-1",
"uniprot_id": [
{
"id": "CDKA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14519",
"type": "external"
}
],
"mass": 12365.0,
"length": 115,
"protein_name": "Cyclin-dependent kinase 2-associated protein 1",
"gene_name": "CDK2AP1",
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"refseq_name": "cyclin-dependent kinase 2-associated protein 1 isoform 2",
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{
"id": "NP_001257362",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257362",
"type": "external"
}
],
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"protein_names_uniprotkb": "Cyclin-dependent kinase 2-associated protein 1; CDK2-associated protein 1; DOC-1; Deleted in oral cancer 1; Putative oral cancer suppressor",
"protein_names_refseq": "CDK2-associated protein 1; Deleted in oral cancer-1; cyclin-dependent kinase 2-associated protein 1 isoform 2; deleted in oral cancer 1; putative oral cancer suppressor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8099); (R-HSA-9937850); (R-HSA-9940951)",
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"class_list": "",
"function": "Inhibitor of cyclin-dependent kinase CDK2 (By similarity). Also acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:20523938, PubMed:28977666)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The Association between Cyclin Dependent Kinase 2 Associated Protein 1 (CDK2AP1) and Molecular Subtypes of Lethal Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The deleted in oral cancer (DOC1 aka CDK2AP1) tumor suppressor gene is downregulated in oral squamous cell carcinoma by multiple microRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]",
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"secondary_ac_list": "F5GYA4",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006261 DNA-templated DNA replication",
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},
{
"uniprot_canonical_ac": "P47710-1",
"uniprot_id": [
{
"id": "CASA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P47710",
"type": "external"
}
],
"mass": 21671.0,
"length": 185,
"protein_name": "Alpha-S1-casein",
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"organism": "Human",
"refseq_name": "alpha-S1-casein isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001020275",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020275",
"type": "external"
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],
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"gene_names_refseq": "CASA; CSN1S1; CSN1",
"protein_names_uniprotkb": "Alpha-S1-casein",
"protein_names_refseq": "alpha-S1-casein isoform 2 precursor; alpha-S1-casein; casein, alpha",
"tax_id": 9606,
"disease": "hypertension (Disease Ontology:DOID:10763); brain ischemia (Disease Ontology:DOID:2316); Papillon-Lefevre disease (Disease Ontology:DOID:3389); schizophrenia (Disease Ontology:DOID:5419); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:1446); (R-HSA-5223345)",
"pathway_count": 2,
"publication_count": 47,
"publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12919330;12951058;13130483;14984739;15804357;16683014;17166836;17646876;18057121;18347014;1840603;18847231;18930737;19262752;1955075;19717468;20068231;21135174;21361910;22119785;22649030;23169667;23481700;24725410;24790029;26620797;26635246;26824658;27102039;28786558;29786170;32125861;4018271;7615546;7619062;7749638;8192860;9050925;9114041;9537412",
"class_list": "",
"function": "Alphas1-Casein may be a potential biomarker for early identification of BPH patients., [RefSeq, PubMed]; Casein alpha s1 is expressed in human monocytes and stimulates expression of proinflammatory cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF) via an immunomodulatory role beyond the nutritional function of CSN1S1 in milk., [RefSeq, PubMed]; Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors., [UniProtKB]; Important role in the capacity of milk to transport calcium phosphate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results suggest that autoimmunity to insulin can occur infrequently via cross-reactivity to food protein alpha casein., [RefSeq, PubMed]; Serine-71 in alpha-S1 casein is phosphorylated in the breast milk., [RefSeq, PubMed]",
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"secondary_ac_list": "A1A510;A1A511;E9PB60;Q4PNR5",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
"go_biological_process": "GO:0032570 response to progesterone;GO:0032355 response to estradiol;GO:1903494 response to dehydroepiandrosterone;GO:1903496 response to 11-deoxycorticosterone",
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},
{
"uniprot_canonical_ac": "Q96S94-1",
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{
"id": "CCNL2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96S94",
"type": "external"
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],
"mass": 58147.0,
"length": 520,
"protein_name": "Cyclin-L2",
"gene_name": "CCNL2",
"organism": "Human",
"refseq_name": "cyclin-L2 isoform B",
"refseq_ac": [
{
"id": "NP_001034666",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034666",
"type": "external"
}
],
"gene_names_uniprotkb": "CCNL2; SB138",
"gene_names_refseq": "ANIA-6B; CCNL2; CCNM; CCNS; HCLA-ISO; HLA-ISO; PCEE; SB138",
"protein_names_uniprotkb": "Cyclin-L2; Paneth cell-enhanced expression protein",
"protein_names_refseq": "cyclin M; cyclin S; cyclin-L2 isoform B; paneth cell-enhanced expression protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:81669)",
"pathway_count": 1,
"publication_count": 73,
"publication_id_list": "11237011;14623875;14684736;17081983;17322306;18216018;18452278;18669648;18767875;19413330;19651622;19664994;19664995;19690332;20068231;21406692;22223895;22645359;23186163;23481700;24275569;25418920;25645385;25892735;26992070;27600516;27846572;27920218;28063628;28228285;28411811;28904123;29242379;29351928;29393594;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30833945;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34937039;35051231;35580925;36010968;36104565;36241641;37217939;38059508",
"class_list": "",
"function": "CDK11(p110) interacts physically and functionally with cyclin Lalpha and -beta isoforms and SR proteins to regulate splicing., [RefSeq, PubMed]; Characterize cyclin L2 as a highly mobile component of nuclear speckles and suggest that DYRK1A may regulate splicing by phosphorylation of cyclin L2, [RefSeq, PubMed]; Exosome miR-23a-3p from Osteoblast Alleviates Spinal Cord Ischemia/Reperfusion Injury by Down-Regulating KLF3-Activated CCNL2 Transcription., [RefSeq, PubMed]; Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing (PubMed:18216018, PubMed:36104565, PubMed:38059508)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]",
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"secondary_ac_list": "A0A024R072;A0A024R077;A0A0C4DGC4;A8K8A3;B1B152;F2Z3J5;Q5T2N5;Q5T2N6;Q6IQ12;Q7Z4Z8;Q8N3C9;Q8N3D5;Q8NHE3;Q8TEL0;Q96B00",
"ec_number_list": [],
"go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0180038 cyclin L-CDK11 complex;GO:0000307 cyclin-dependent protein kinase holoenzyme complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0042981 regulation of apoptotic process",
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},
{
"uniprot_canonical_ac": "Q96LY2-1",
"uniprot_id": [
{
"id": "CC74B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96LY2",
"type": "external"
}
],
"mass": 41826.0,
"length": 380,
"protein_name": "Coiled-coil domain-containing protein 74B",
"gene_name": "CCDC74B",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 74B isoform 2",
"refseq_ac": [
{
"id": "NP_001245236",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245236",
"type": "external"
}
],
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"protein_names_uniprotkb": "Coiled-coil domain-containing protein 74B",
"protein_names_refseq": "coiled-coil domain-containing protein 74B isoform 2; coiled-coil domain-containing protein 74B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:91409)",
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"class_list": "",
"function": "The authors characterized CCDC74A and CCDC74B as microtubule-associated proteins that localize to spindles and are important K-fiber crosslinkers required for bipolar spindle formation and chromosome alignment. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q6NW18",
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"hit_score": 1.6,
"record_id": "Q96LY2-1",
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},
{
"uniprot_canonical_ac": "Q9Y3C0-1",
"uniprot_id": [
{
"id": "WASC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y3C0",
"type": "external"
}
],
"mass": 21173.0,
"length": 194,
"protein_name": "WASH complex subunit 3",
"gene_name": "WASHC3",
"organism": "Human",
"refseq_name": "WASH complex subunit 3 isoform 1",
"refseq_ac": [
{
"id": "NP_057137",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_057137",
"type": "external"
}
],
"gene_names_uniprotkb": "WASHC3; AD-016; CCDC53; CGI-116; x0009",
"gene_names_refseq": "CCDC53; CGI-116; WASHC3",
"protein_names_uniprotkb": "WASH complex subunit 3; Coiled-coil domain-containing protein 53",
"protein_names_refseq": "WASH complex subunit 3 isoform 1; WASH complex subunit CCDC53; coiled-coil domain containing 53; coiled-coil domain-containing protein 53",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51019)",
"pathway_count": 1,
"publication_count": 24,
"publication_id_list": "10931946;11237011;19922875;20498093;23481700;25576301;27862975;28228285;28832583;28904123;29242379;29632711;31844290;32157095;32357974;32387766;32938616;33298915;33592498;33936100;33968037;34171305;34509645;36241641",
"class_list": "",
"function": "Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting., [UniProtKB, PubMed, PubMed]",
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"go_cellular_component": "GO:0031901 early endosome membrane;GO:0071203 WASH complex",
"go_biological_process": "GO:0015031 protein transport;GO:0016197 endosomal transport;GO:0030041 actin filament polymerization;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0006887 exocytosis",
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},
{
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{
"id": "LCP2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13094",
"type": "external"
}
],
"mass": 60188.0,
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"protein_name": "Lymphocyte cytosolic protein 2",
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"organism": "Human",
"refseq_name": "lymphocyte cytosolic protein 2",
"refseq_ac": [
{
"id": "NP_005556",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005556",
"type": "external"
}
],
"gene_names_uniprotkb": "LCP2",
"gene_names_refseq": "IMD81; LCP2; SLP-76; SLP76",
"protein_names_uniprotkb": "Lymphocyte cytosolic protein 2; SH2 domain-containing leukocyte protein of 76 kDa; SLP-76 tyrosine phosphoprotein; SLP76",
"protein_names_refseq": "76 kDa tyrosine phosphoprotein; SH2 domain-containing leukocyte protein of 76 kDa; SLP-76 tyrosine phosphoprotein; lymphocyte cytosolic protein 2",
"tax_id": 9606,
"disease": "immunodeficiency 81 (Disease Ontology:DOID:0061052)",
"pathway": " (hsa:3937); (R-HSA-114604); (R-HSA-202433); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809)",
"pathway_count": 6,
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"function": "Adapter protein primarily involved in signaling pathways within T-cells, as well as other immune cells such as platelets, mast cells, and natural killer (NK) cells (PubMed:11313406, PubMed:33159816). Plays a crucial role for transducing signal from the T-cell receptor (TCR) after antigen recognition leading to T-cell activation. Mechanistically, once phosphorylated by the kinase ZAP70, mediates interactions with the guanine-nucleotide exchange factor VAV1, the adapter protein NCK and the kinase ITK (PubMed:8673706, PubMed:8702662). In turn, stimulates the activation of PKC-theta/PRKCQ and NF-kappa-B transcriptional activity in response to CD3 and CD28 costimulation (PubMed:11313406). Also plays an essential role in AGER-induced signaling pathways including p38 MAPK and ERK1/2 activation leading to cytokine release and pro-inflammatory responses (PubMed:33436632)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; LYP regulates SLP76 and other adaptor proteins in T cells. Publication Status: Online-Only, [RefSeq, PubMed]; SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma., [RefSeq, PubMed]; This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]., [RefSeq]; WTAP Mediates NUPR1 Regulation of LCN2 Through m[6]A Modification to Influence Ferroptosis, Thereby Promoting Breast Cancer Proliferation, Migration and Invasion., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0044853 plasma membrane raft;GO:0036398 TCR signalosome",
"go_biological_process": "GO:0006955 immune response;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction;GO:0045860 positive regulation of protein kinase activity;GO:0050852 T cell receptor signaling pathway",
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},
{
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{
"id": "CB068_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q2NKX9",
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],
"mass": 18751.0,
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"protein_name": "UPF0561 protein C2orf68",
"gene_name": "C2orf68",
"organism": "Human",
"refseq_name": "UPF0561 protein C2orf68",
"refseq_ac": [
{
"id": "NP_001013671",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013671",
"type": "external"
}
],
"gene_names_uniprotkb": "C2orf68",
"gene_names_refseq": "C2orf68; HCRCN81",
"protein_names_uniprotkb": "UPF0561 protein C2orf68",
"protein_names_refseq": "UPF0561 protein C2orf68",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:388969)",
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"class_list": "",
"function": "C2orf68 expression correlates with the pathogenesis of colorectal cancer through PI3K/Akt/mTOR pathway., [RefSeq, PubMed]; Hcrcn81 might promote carcinogenesis and progression through regulation of the Wnt/beta-catenin signaling pathway and plays an important role in the carcinogenesis of colorectal cancer., [RefSeq, PubMed]; Observations of the current study indicate that hcrcn81 may play a role in tumorigenesis by regulating the mTOR signaling pathway., [RefSeq, PubMed]; Study suggested that c2orf68 is a potential carcinogenesis factor in colorectal cancer (CRC). Furthermore, c2orf68 may have a synergistic effect with HuR in the onset and development of CRC., [RefSeq, PubMed]; The mRNA levels of NM_001013649.3 are significantly down-regulated in colorectal adenocarcinoma tissue, and this down-regulation is most likely correlated with the differentiation status of the cancer., [RefSeq, PubMed]",
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{
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{
"id": "CARL1_HUMAN",
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],
"mass": 151557.0,
"length": 1371,
"protein_name": "F-actin-uncapping protein LRRC16A",
"gene_name": "CARMIL1",
"organism": "Human",
"refseq_name": "F-actin-uncapping protein LRRC16A isoform 1",
"refseq_ac": [
{
"id": "NP_060110",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060110",
"type": "external"
}
],
"gene_names_uniprotkb": "CARMIL1; CARMIL; LRRC16A; LRRC16",
"gene_names_refseq": "CARMIL1a; CARMIL1; CARMIL; LRRC16A; LRRC16; dJ501N12.1; dJ501N12.5",
"protein_names_uniprotkb": "F-actin-uncapping protein LRRC16A; CARMIL homolog; Capping protein regulator and myosin 1 linker protein 1; Capping protein, Arp2/3 and myosin-I linker homolog 1; Capping protein, Arp2/3 and myosin-I linker protein 1; Leucine-rich repeat-containing protein 16A",
"protein_names_refseq": "CARMIL homolog; F-actin-uncapping protein LRRC16A isoform 1; F-actin-uncapping protein LRRC16A; capping protein regulator and myosin 1 linker protein 1; capping protein, Arp2/3 and myosin-I linker homolog 1; capping protein, Arp2/3 and myosin-I linker protein 1; capping protein, Arp2/3, and Myosin-I Linker homolog 1; leucine rich repeat containing 16A; leucine rich repeat containing 16; leucine-rich repeat-containing protein 16A; testicular tissue protein Li 107",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55604); (R-HSA-983231)",
"pathway_count": 2,
"publication_count": 83,
"publication_id_list": "11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12427746;15020713;15247287;15710388;16054028;1630448;17027967;17196961;18669648;19293402;19690332;19846667;20068231;20530532;20627800;21406692;218813;23186163;23481700;24275569;24714562;24715725;25576301;26578515;26845023;26992070;27768389;27846572;28218747;28228285;28411811;28832583;28904123;29242379;29393594;29479355;29557506;29605689;29632046;29847807;30315122;30524438;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32610117;32938616;33298915;33968037;34087483;3409321;34171305;34932366;35051231;36010968;38739978;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674",
"class_list": "",
"function": "A novel genetic variant in leucine-rich repeat-containing 16A (LRRC16A) has been associated with reduced ARDS risk., [RefSeq, PubMed]; CARMIL1 regulates liver cancer cell proliferation by activating the ERK/mTOR pathway through the TRIM27/p53 axis., [RefSeq, PubMed]; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667)., [UniProtKB, PubMed, PubMed]; Study utilized whole exome sequencing and other assays to genetically and functionally characterize three consanguineous multiplex Saudi families with CARMIL2 mutations, presenting with dermatitis, recurrent skin abscesses and chest infections. Publication Status: Online-Only, [RefSeq, PubMed]; The Leucine-Rich Repeat Region of CARMIL1 Regulates IL-1-Mediated ERK Activation, MMP Expression, and Collagen Degradation., [RefSeq, PubMed]; V-1 and CARMIL induce changes in both proteins' binding sites on the surface of capping proteins, along with a set of internal residues., [RefSeq, PubMed]",
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"secondary_ac_list": "B8X1J0;Q6ZUH5;Q6ZW07;Q9NXU7",
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"go_molecular_function": "GO:0044877 protein-containing complex binding",
"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0031252 cell leading edge;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0007015 actin filament organization;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration;GO:0046415 urate metabolic process;GO:0051496 positive regulation of stress fiber assembly",
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},
{
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{
"id": "BAZ2B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UIF8",
"type": "external"
}
],
"mass": 240459.0,
"length": 2168,
"protein_name": "Bromodomain adjacent to zinc finger domain protein 2B",
"gene_name": "BAZ2B",
"organism": "Human",
"refseq_name": "bromodomain adjacent to zinc finger domain protein 2B isoform b",
"refseq_ac": [
{
"id": "NP_001276904",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276904",
"type": "external"
}
],
"gene_names_uniprotkb": "BAZ2B; KIAA1476",
"gene_names_refseq": "BAZ2B; WALp4",
"protein_names_uniprotkb": "Bromodomain adjacent to zinc finger domain protein 2B; hWALp4",
"protein_names_refseq": "bromodomain adjacent to zinc finger domain protein 2B isoform b; bromodomain adjacent to zinc finger domain protein 2B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:29994)",
"pathway_count": 1,
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"publication_id_list": "10662543;11237011;17081983;19608861;20802025;21406692;22464331;23186163;23481700;24715725;25505266;25576301;25593309;26154972;26992070;27600516;27846572;28801535;28904123;29485866;29557506;30379171;30410026;30429286;30484775;31217245;31492838;31844290;31999386;32157095;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33296649;33298915;33392160;33968037;34171305;34509645;34846842;34932366;35051231;35154160;35254053;35318648;35580925;36215666;36241641;36284347;37217939;37866812;37938771;38000389;38665916;39531497",
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"function": "BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder., [RefSeq, PubMed]; Biochemical and cellular insights into the Baz2B protein, a non-catalytic subunit of the chromatin remodeling complex., [RefSeq, PubMed]; Circulating tumor DNA, and clinical features to guide rechallenge with BRAF inhibitors in BRAF-V600E mutated metastatic colorectal cancer., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulatory subunit of the ATP-dependent BRF-1 and BRF-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: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 (PubMed:28801535). The BRF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the BRF-5 ISWI chromatin remodeling complex (PubMed:28801535). Chromatin reader protein, which may play a role in transcriptional regulation via interaction with ISWI (By similarity) (PubMed:10662543). Involved in positively modulating the rate of age-related behavioral deterioration (By similarity). Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with histone methyltransferase EHMT1 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; The Master Regulator Protein BAZ2B Can Reprogram Human Hematopoietic Lineage-Committed Progenitors into a Multipotent State., [RefSeq, PubMed]; This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]., [RefSeq]",
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"secondary_ac_list": "D3DPA8;Q96EA1;Q96SQ8;Q9P252;Q9Y4N8",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin",
"go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 6.8,
"record_id": "Q9UIF8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "A6H8M9-1",
"uniprot_id": [
{
"id": "CDHR4_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6H8M9",
"type": "external"
}
],
"mass": 85827.0,
"length": 788,
"protein_name": "Cadherin-related family member 4",
"gene_name": "CDHR4",
"organism": "Human",
"refseq_name": "cadherin-related family member 4 precursor",
"refseq_ac": [
{
"id": "NP_001007541",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007541",
"type": "external"
}
],
"gene_names_uniprotkb": "CDHR4; CDH29; PRO34300",
"gene_names_refseq": "CDH29; CDHR4; PRO34300",
"protein_names_uniprotkb": "Cadherin-related family member 4; Cadherin-like protein 29",
"protein_names_refseq": "Cadherin-like protein UNQ9392/PRO34300; VLLR9392; cadherin-like 29; cadherin-like protein 29; cadherin-related family member 4 precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:389118)",
"pathway_count": 1,
"publication_count": 12,
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"class_list": "",
"function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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"secondary_ac_list": "Q6UXT0",
"ec_number_list": [],
"go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0007155 cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules",
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},
{
"uniprot_canonical_ac": "P30203-1",
"uniprot_id": [
{
"id": "CD6_HUMAN",
"url": "https://www.uniprot.org/uniprot/P30203",
"type": "external"
}
],
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"length": 668,
"protein_name": "T-cell differentiation antigen CD6",
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"organism": "Human",
"refseq_name": "T-cell differentiation antigen CD6 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001241679",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241679",
"type": "external"
}
],
"gene_names_uniprotkb": "CD6",
"gene_names_refseq": "CD6; TP120",
"protein_names_uniprotkb": "T-cell differentiation antigen CD6; T12; TP120",
"protein_names_refseq": "CD6 antigen; T-cell differentiation antigen CD6 isoform 2 precursor; T-cell differentiation antigen CD6; T12",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:923)",
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"publication_count": 29,
"publication_id_list": "11237011;15048703;15294938;16352806;16914752;17371992;17601777;1919444;19562805;2016320;24190977;24584089;24945728;26146185;28289074;28832583;29242379;29557506;29786170;32387766;35580925;37074911;38139340;38280067;38580538;38642507;7678115;9013954;9394826",
"class_list": "",
"function": "Activation of cytotoxic lymphocytes through CD6 enhances killing of cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; CD6 and Its Interacting Partners: Newcomers to the Block of Cancer Immunotherapies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166 (PubMed:15048703, PubMed:15294938, PubMed:16352806, PubMed:16914752, PubMed:24584089, PubMed:24945728). Contributes to signaling cascades triggered by activation of the TCR/CD3 complex (PubMed:24584089). Functions as a costimulatory molecule; promotes T-cell activation and proliferation (PubMed:15294938, PubMed:16352806, PubMed:16914752). Contributes to the formation and maturation of the immunological synapse (PubMed:15294938, PubMed:16352806). Functions as a calcium-dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and lipoteichoic acid from Gram-positive bacteria (PubMed:17601777). LPS binding leads to the activation of signaling cascades and down-stream MAP kinases (PubMed:17601777). Mediates activation of the inflammatory response and the secretion of pro-inflammatory cytokines in response to LPS (PubMed:17601777)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Polymorphisms in the CD6-ALCAM axis may modulate psoriasis risk and outcomes., [RefSeq, PubMed]; The CD318/CD6 axis limits type 1 diabetes islet autoantigen-specific human T cell activation., [RefSeq, PubMed]; This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0001772 immunological synapse;GO:0016020 membrane",
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},
{
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{
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}
],
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"protein_name": "G2/mitotic-specific cyclin-B1",
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"organism": "Human",
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{
"id": "NP_114172",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_114172",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); ovary epithelial cancer (Disease Ontology:DOID:2152); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometrial carcinoma (Disease Ontology:DOID:2871); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); in situ carcinoma (Disease Ontology:DOID:8719)",
"pathway": " (hsa:891); (R-HSA-113507); (R-HSA-156711); (R-HSA-162658); (R-HSA-174048); (R-HSA-176408); (R-HSA-176412); (R-HSA-176417); (R-HSA-2299718); (R-HSA-2465910); (R-HSA-2500257); (R-HSA-2514853); (R-HSA-2565942); (R-HSA-2980767); (R-HSA-2995383); (R-HSA-3301854); (R-HSA-4419969); (R-HSA-6804114); (R-HSA-68875); (R-HSA-69273); (R-HSA-69478); (R-HSA-75035); (R-HSA-8852276); (R-HSA-8878166); (R-HSA-9725371); (R-HSA-9825892)",
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"class_list": "",
"function": "BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands., [RefSeq, PubMed]; CDK5-cyclin B1 regulates mitotic fidelity., [RefSeq, PubMed]; Essential for the control of the cell cycle at the G2/M (mitosis) transition (PubMed:27030811, PubMed:17495531, PubMed:17495533). Binds and activates cyclin-dependent protein kinase CDK1/CDC2 (PubMed:41100585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Essential for the control of the cell cycle at the G2/M (mitosis) transition., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hsa-circ-0006091 modulates the proliferation of hepatocellular carcinoma via the miR-622/CCNB1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value of cyclin B1 and cyclin B2 expression in breast cancer: A systematic review and updated meta-analysis., [RefSeq, PubMed]; Serum/glucocorticoid-regulated kinase 1 contributes to the proliferation of varicella-zoster virus and induction of cyclin B1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]., [RefSeq]",
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"secondary_ac_list": "A8K066;Q5TZP9",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding;GO:0044389 ubiquitin-like protein ligase binding;GO:0005113 patched binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity",
"go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix",
"go_biological_process": "GO:0007283 spermatogenesis;GO:0010629 negative regulation of gene expression;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0045931 positive regulation of mitotic cell cycle;GO:0051301 cell division",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q9BXY5",
"type": "external"
}
],
"mass": 61749.0,
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"protein_name": "Calcyphosin-2",
"gene_name": "CAPS2",
"organism": "Human",
"refseq_name": "calcyphosin-2 isoform 3",
"refseq_ac": [
{
"id": "NP_001273477",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273477",
"type": "external"
}
],
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"gene_names_refseq": "CAPS2; UG0636c06",
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"protein_names_refseq": "calcyphosin-2 isoform 3; calcyphosin-2; calcyphosphine 2",
"tax_id": 9606,
"disease": "",
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"class_list": "",
"function": "Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]., [RefSeq]",
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"secondary_ac_list": "A0A8V8TPT3;Q6PH84;Q8N242;Q8NAY5",
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"go_biological_process": "",
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"record_id": "Q9BXY5-1",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q16602",
"type": "external"
}
],
"mass": 52979.0,
"length": 461,
"protein_name": "Calcitonin gene-related peptide type 1 receptor",
"gene_name": "CALCRL",
"organism": "Human",
"refseq_name": "calcitonin gene-related peptide type 1 receptor precursor",
"refseq_ac": [
{
"id": "NP_001258680",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258680",
"type": "external"
}
],
"gene_names_uniprotkb": "CALCRL; CGRPR",
"gene_names_refseq": "CALCRL; CGRPR; CRLR; LMPHM8",
"protein_names_uniprotkb": "Calcitonin gene-related peptide type 1 receptor; CGRP type 1 receptor; CRLR; Calcitonin receptor-like receptor",
"protein_names_refseq": "CGRP type 1 receptor; calcitonin gene-related peptide type 1 receptor precursor; calcitonin gene-related peptide type 1 receptor; calcitonin receptor-like",
"tax_id": 9606,
"disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); brain infarction (Disease Ontology:DOID:3454); lymphatic malformation 8 (MONDO:MONDO:0032907)",
"pathway": " (hsa:10203); (R-HSA-418555); (R-HSA-419812); (R-HSA-9856530)",
"pathway_count": 4,
"publication_count": 125,
"publication_id_list": "10.1101/2023.09.13.557529;10217420;10376603;10639123;10649434;10764742;11007482;11237011;11389975;11693189;11853546;11968001;12036966;12058044;12106601;12176338;12180353;12724311;12860470;1331173;13549488;14615490;14671004;14722252;1517224;15304325;15340161;15718470;15765929;15769620;15951850;16313925;16687412;16780920;16923326;17168849;17665333;18044684;18577758;18710921;19020623;19105585;19723632;19876791;19929708;20381629;20573757;20826335;21036126;2163110;2177866;22102369;23153230;24169554;2417744;24190977;24687066;2491850;25297013;2553411;2553705;25892735;2608057;26417854;26432182;26559125;27566546;27797339;28218747;2871555;29171818;29255900;29393594;29443750;29602314;29769354;2985435;30115739;30573663;30833991;31154438;31205027;3127824;31279028;31311674;31399091;31556018;31800988;31848261;31983287;32145209;32226383;32266704;32296767;32497535;32540603;32618402;32636324;32715661;32851644;33049737;33602864;34499618;34655717;35007660;37074911;37948318;38349260;38602103;6085243;6148938;6609312;7818539;7876172;8340388;8387282;8514797;8626685;8672451;8700127;9212325;9263355;9417641;9620797;9651336",
"class_list": "",
"function": "CALCRL induces resistance to daunorubicin in acute myeloid leukemia cells through upregulation of XRCC5/TYK2/JAK1 pathway., [RefSeq, PubMed]; CALCRL knockdown suppresses cancer stemness and chemoresistance in acute myeloid leukemia with FLT3-ITD and DNM3TA-R882 double mutations., [RefSeq, PubMed]; Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro., [RefSeq, PubMed]; G protein-coupled receptor which specificity is determined by its interaction with receptor-activity-modifying proteins (RAMPs) (PubMed:32296767, PubMed:33602864, PubMed:8626685). Together with RAMP1, form the receptor complex for calcitonin-gene-related peptides CALCA/CGRP1 and CALCB/CGRP2 (PubMed:33602864). Together with RAMP2 or RAMP3, function as receptor complexes for adrenomedullin (ADM and ADM2) (PubMed:32296767, PubMed:9620797). 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:32296767, PubMed:8626685)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Identification and validation of CALCRL-associated prognostic genes in acute myeloid leukemia., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 3,
"mined_n_glycosites": 3,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 4,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 2,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 4,
"total_reported_o_glycosites": 0,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 4,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 2,
"reported_mutagensis": 3,
"reported_glycation": 0,
"reported_snv": 19,
"reported_interactions": 0,
"missing_score": 9234,
"biomarker_type": "",
"glycan_count": 18,
"disease_count": 3,
"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K6G5;A8KAD3;Q53S02;Q53TS5",
"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004948 calcitonin receptor activity;GO:0001605 adrenomedullin receptor activity;GO:0001635 calcitonin gene-related peptide receptor activity;GO:1990409 adrenomedullin binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005764 lysosome",
"go_biological_process": "GO:0001525 angiogenesis;GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0015031 protein transport;GO:0031623 receptor internalization",
"synthesized_glycan_count": 0,
"hit_score": 14.8,
"record_id": "Q16602-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P41597-1",
"uniprot_id": [
{
"id": "CCR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P41597",
"type": "external"
}
],
"mass": 41915.0,
"length": 374,
"protein_name": "C-C chemokine receptor type 2",
"gene_name": "CCR2",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 2 isoform A",
"refseq_ac": [
{
"id": "NP_001116513",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116513",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR2; CMKBR2",
"gene_names_refseq": "CC-CKR-2; CCR-2; CCR2A; CCR2B; CCR2; CD192; CKR2A; CKR2B; CKR2; CMKBR2; MCP-1-R; PCLUD",
"protein_names_uniprotkb": "C-C chemokine receptor type 2; C-C CKR-2; CC-CKR-2; CCR-2; CCR2; MCP-1-R; Monocyte chemoattractant protein 1 receptor",
"protein_names_refseq": "C-C chemokine receptor type 2 isoform A; C-C chemokine receptor type 2; MCP-1 receptor; chemokine (C-C motif) receptor 2; monocyte chemoattractant protein 1 receptor; monocyte chemotactic protein 1 receptor",
"tax_id": 9606,
"disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Coronavirus infectious disease (Disease Ontology:DOID:0080599); polymyositis (Disease Ontology:DOID:0080745); dermatomyositis (Disease Ontology:DOID:10223); pleural tuberculosis (Disease Ontology:DOID:106); age related macular degeneration (Disease Ontology:DOID:10871); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); sarcoidosis (Disease Ontology:DOID:11335); prediabetes syndrome (Disease Ontology:DOID:11716); posterior uveitis (Disease Ontology:DOID:12574); intermediate uveitis (Disease Ontology:DOID:12732); Kawasaki disease (Disease Ontology:DOID:13378); aggressive periodontitis (Disease Ontology:DOID:1474); urticaria (Disease Ontology:DOID:1555); fungal infectious disease (Disease Ontology:DOID:1564); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); demyelinating disease (Disease Ontology:DOID:3213); atopic dermatitis (Disease Ontology:DOID:3310); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); inclusion body myositis (Disease Ontology:DOID:3429); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); periapical granuloma (Disease Ontology:DOID:4617); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); periapical periodontitis (Disease Ontology:DOID:823); lung disease (Disease Ontology:DOID:850); myeloid sarcoma (Disease Ontology:DOID:8683); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); susceptibility to HIV infection (MONDO:MONDO:0004951); cystic disease of lung (MONDO:MONDO:0009060)",
"pathway": " (hsa:729230); (R-HSA-1461957); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)",
"pathway_count": 5,
"publication_count": 149,
"publication_id_list": "10092818;10229797;10415057;10433356;10521347;10640743;10706668;10725696;10725697;10781587;10914484;11007482;11046064;11060282;11085990;11237011;11702237;11934878;12120503;12149255;12554737;12554859;12626585;12832402;12884299;1460289;15067078;15919823;15951850;15995708;16107333;16634148;16923326;16982608;1744577;18006661;1840701;18434541;18577758;18587271;1891716;1940369;1940799;20002784;20145033;20364004;20449800;20483750;20537184;2078213;21122132;2217207;22612293;22982413;23408426;23938203;2423119;24743777;25283965;2534964;25716470;26154972;2748346;27926736;2834384;29557506;2970963;3098319;31217245;31844290;31848261;32357974;32387766;3260265;32983136;34509645;35051231;35570218;36010968;38157855;38387908;38796708;39292787;39455952;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8146186;8163946;8186324;8301137;8383238;8406495;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;8995400;9013939;9024663;9058802;9164944;9166430;9169459;9207005;9252328;9276730;9287217;9312047;9354687;9390561;9449724;9463416;9501202;9541493;9550426;9618518;9662369;9670957;9789057;9794440;9836587;9918218",
"class_list": "",
"function": "(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection., [UniProtKB, PubMed]; CCR2 cooperativity promotes hematopoietic stem cell homing to the bone marrow., [RefSeq, PubMed]; Chemokine CCL2 and its receptor CCR2 in different age groups of patients with COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Key functional receptor for CCL2 but can also bind CCL7, and CCL12 (PubMed:23408426, PubMed:38157855, PubMed:8048929, PubMed:8146186). Also transduces signaling mediated by CCL13 (PubMed:38157855). Its binding with CCL2 on monocytes and macrophages mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (PubMed:38157855). Also acts as a receptor for the beta-defensin DEFB106A/DEFB106B (PubMed:23938203). Regulates the expression of T-cell inflammatory cytokines and T-cell differentiation, promoting the differentiation of T-cells into T-helper 17 cells (Th17) during inflammation (By similarity). Facilitates the export of mature thymocytes by enhancing directional movement of thymocytes to sphingosine-1-phosphate stimulation and up-regulation of S1P1R expression; signals through the JAK-STAT pathway to regulate FOXO1 activity leading to an increased expression of S1P1R (By similarity). Plays an important role in mediating peripheral nerve injury-induced neuropathic pain (By similarity). Increases NMDA-mediated synaptic transmission in both dopamine D1 and D2 receptor-containing neurons, which may be caused by MAPK/ERK-dependent phosphorylation of GRIN2B/NMDAR2B (By similarity). Mediates the recruitment of macrophages and monocytes to the injury site following brain injury (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The novel potential therapeutic target PSMP/MSMP promotes acute kidney injury via CCR2., [RefSeq, PubMed]; The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]., [RefSeq]; [Expression of MCP-1 and CCR2 in Newly Diagnosed Diffuse Large B-Cell Lymphoma and Clinical Significance]., [RefSeq, PubMed]",
"predicted_glycosites": 1,
"predicted_n_glycosites": 1,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 0,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 0,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 2,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 7,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 38,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "A0AVQ3;B2RMT0;O95950;Q4VBL2",
"ec_number_list": [],
"go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0042802 identical protein binding;GO:0031727 CCR2 chemokine receptor binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007194 negative regulation of adenylate cyclase activity;GO:0007204 positive regulation of cytosolic calcium ion concentration",
"synthesized_glycan_count": 0,
"hit_score": 15.0,
"record_id": "P41597-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q14739-1",
"uniprot_id": [
{
"id": "LBR_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14739",
"type": "external"
}
],
"mass": 70703.0,
"length": 615,
"protein_name": "Delta(14)-sterol reductase LBR",
"gene_name": "LBR",
"organism": "Human",
"refseq_name": "delta(14)-sterol reductase LBR",
"refseq_ac": [
{
"id": "NP_002287",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002287",
"type": "external"
}
],
"gene_names_uniprotkb": "LBR",
"gene_names_refseq": "C14SR; DHCR14B; LBR; LMN2R; PHASK; PHA; TDRD18",
"protein_names_uniprotkb": "Delta(14)-sterol reductase LBR; 1.3.1.70; 3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; C14SR; Delta-14-SR; Integral nuclear envelope inner membrane protein; LMN2R; Lamin-B receptor; Sterol C14-reductase",
"protein_names_refseq": "3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; delta(14)-sterol reductase LBR; delta-14-SR; integral nuclear envelope inner membrane protein; sterol C14-reductase; tudor domain containing 18",
"tax_id": 9606,
"disease": "Greenberg dysplasia (Disease Ontology:DOID:0111588); primary biliary cholangitis (Disease Ontology:DOID:12236); ichthyosis vulgaris (Disease Ontology:DOID:1702); systemic lupus erythematosus (Disease Ontology:DOID:9074); Pelger-Huet anomaly (Disease Ontology:DOID:9631); Reynolds syndrome (MONDO:MONDO:0013276); regressive spondylometaphyseal dysplasia (MONDO:MONDO:0018663)",
"pathway": " (hsa:3930); (R-HSA-2995383); (R-HSA-6807047); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9022692)",
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"function": "Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane (PubMed:10828963)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization., [RefSeq, PubMed]; Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants., [RefSeq, PubMed]; Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulated expression of lamin B receptor increases cell proliferation and suppresses genomic instability: implications for cellular immortalization., [RefSeq, PubMed]",
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{
"id": "3.6.5.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2",
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},
{
"id": "2.3.1.-",
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},
{
"id": "1.3.1.70",
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},
{
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{
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{
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.11",
"type": "external"
}
],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005521 lamin binding;GO:0070402 NADPH binding;GO:0070087 chromo shadow domain binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0031965 nuclear membrane",
"go_biological_process": "GO:0030223 neutrophil differentiation;GO:0060816 random inactivation of X chromosome;GO:0006695 cholesterol biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0036197 zymosterol biosynthetic process",
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},
{
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{
"id": "CCR9_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51686",
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}
],
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"protein_name": "C-C chemokine receptor type 9",
"gene_name": "CCR9",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 9 isoform B",
"refseq_ac": [
{
"id": "NP_001243298",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243298",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR9; GPR28",
"gene_names_refseq": "CC-CKR-9; CCR9; CDw199; GPR-9-6; GPR28",
"protein_names_uniprotkb": "C-C chemokine receptor type 9; C-C CKR-9; CC-CKR-9; CCR-9; G protein-coupled receptor 28; GPR-9-6",
"protein_names_refseq": "C-C chemokine receptor type 9 isoform B; C-C chemokine receptor type 9; G protein-coupled receptor 28; chemokine (C-C motif) receptor 9",
"tax_id": 9606,
"disease": "asthma (Disease Ontology:DOID:2841)",
"pathway": " (hsa:10803); (R-HSA-380108); (R-HSA-418594)",
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"class_list": "",
"function": "(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection., [UniProtKB]; CCR9/CXCR5 Co-Expressing CD4 T Cells Are Increased in Primary Sjogren's Syndrome and Are Enriched in PD-1/ICOS-Expressing Effector T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; In patients with primary Sjogren's syndrome innate-like MAIT cells display upregulated IL-7R, IFN-gamma, and IL-21 expression and have increased proportions of CCR9 and CXCR5-expressing cells. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA15691 promotes T-ALL infiltration by upregulating CCR9 via increased MATR3 stability., [RefSeq, PubMed]; Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level., [UniProtKB, PubMed, PubMed]; Studies indicate important roles played by chemokine ligand 25 (CCL25)/chemokine receptor 9 (CCR9) in tumorigenesis, tumor chemoresistance and metastasis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the beta chemokine receptor family. Chemokines and their receptors are key regulators of thymocyte migration and maturation in normal and inflammation conditions. This gene is differentially expressed in T lymphocytes of the small intestine and colon, and its interaction with chemokine 25 contributes to intestinal intra-epithelial lymphocyte homing to the small intestine. This suggests a role for this gene in directing immune responses to different segments of the gastrointestinal tract. This gene and its exclusive ligand, chemokine 25, are overexpressed in a variety of malignant tumors and are closely associated with tumor proliferation, apoptosis, invasion, migration and drug resistance. This gene maps to the chemokine receptor gene cluster. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]., [RefSeq]",
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"secondary_ac_list": "Q4VBM3;Q549E0;Q9UQQ6",
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"go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane",
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},
{
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{
"id": "CCD82_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N4S0",
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}
],
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"protein_name": "Coiled-coil domain-containing protein 82",
"gene_name": "CCDC82",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 82 isoform a",
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{
"id": "NP_001305665",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305665",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC82; HT025",
"gene_names_refseq": "CCDC82; HSPC048",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 82",
"protein_names_refseq": "coiled-coil domain-containing protein 82 isoform a; coiled-coil domain-containing protein 82",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79780)",
"pathway_count": 1,
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"class_list": "",
"function": "Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing., [RefSeq, PubMed]",
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},
{
"uniprot_canonical_ac": "P16870-1",
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{
"id": "CBPE_HUMAN",
"url": "https://www.uniprot.org/uniprot/P16870",
"type": "external"
}
],
"mass": 53151.0,
"length": 476,
"protein_name": "Carboxypeptidase E",
"gene_name": "CPE",
"organism": "Human",
"refseq_name": "carboxypeptidase E preproprotein",
"refseq_ac": [
{
"id": "NP_001864",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001864",
"type": "external"
}
],
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"gene_names_refseq": "BDVS; CPE; CPH; IDDHH",
"protein_names_uniprotkb": "Carboxypeptidase E; 3.4.17.10; CPE; CPH; Carboxypeptidase H; Enkephalin convertase; Prohormone-processing carboxypeptidase",
"protein_names_refseq": "carbocypeptidase E; carboxypeptidase E preproprotein; carboxypeptidase H; cobalt-stimulated chromaffin granule carboxypeptidase; enkephalin convertase; epididymis secretory sperm binding protein; insulin granule-associated carboxypeptidase; prohormone-processing carboxypeptidase",
"tax_id": 9606,
"disease": "alcohol dependence (Disease Ontology:DOID:0050741); morbid obesity (Disease Ontology:DOID:11981); atherosclerosis (Disease Ontology:DOID:1936); glioblastoma (Disease Ontology:DOID:3068); coronary artery disease (Disease Ontology:DOID:3393); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); BDV syndrome (MONDO:MONDO:0859150)",
"pathway": " (hsa:1363); (R-HSA-264876)",
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"publication_count": 71,
"publication_id_list": "10.1101/2023.09.13.557529;10521251;11237011;11462236;11493706;11707400;11904301;14617756;14704853;1528899;15331542;15878854;16158220;16158222;16407158;16714477;16959974;16984975;19531498;20308425;21091435;21145486;21285511;21308844;21713314;2334405;25091901;2669954;26791533;27726376;2822027;29242379;29331515;29557506;29741879;30078552;30379171;30429286;31154438;31184304;31848261;32161166;32387766;32723473;32936766;32938616;33485965;33592498;33912179;33968037;34383079;34932366;34966948;35051231;35154160;35528956;36010968;36241641;37074911;37100779;37340703;37938771;3896518;39352777;7626024;7865457;8916141;9166668;9207799;9631292;9662053",
"class_list": "",
"function": "Carboxypeptidase E conditional knockout mice exhibit learning and memory deficits and neurodegeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Endoplasmic reticulum stress-dependent regulation of carboxypeptidase E expression in glioblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Novel interaction between neurotrophic factor-alpha1/carboxypeptidase E and serotonin receptor, 5-HTR1E, protects human neurons against oxidative/neuroexcitotoxic stress via beta-arrestin/ERK signaling. Erratum:[Cell Mol Life Sci. 2023 Feb 20;80(3):65. doi: 10.1007/s00018-023-04711-0. PMID: 36808009] Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of Carboxypeptidase E expression inhibits proliferation and invasion of Panc-1 pancreatic cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Sorting receptor that directs prohormones to the regulated secretory pathway. Also acts as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial endoprotease cleavage., [UniProtKB, UniProtKB]; This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
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"reported_n_glycosites_with_glycan": 2,
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"total_reported_n_glycosites": 2,
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"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 21,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 22,
"disease_count": 10,
"glyco_site_count": 4,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K4N1;B3KR42;B4DFN4;D3DP33;Q9UIU9",
"ec_number_list": [
{
"id": "3.4.17.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.10",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0004180 carboxypeptidase activity;GO:0050839 cell adhesion molecule binding;GO:0004181 metallocarboxypeptidase activity;GO:0042043 neurexin family protein binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0030658 transport vesicle membrane",
"go_biological_process": "GO:0036211 protein modification process;GO:0007218 neuropeptide signaling pathway;GO:0016485 protein processing;GO:0006518 peptide metabolic process;GO:0016055 Wnt signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 9.8,
"record_id": "P16870-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P42081-1",
"uniprot_id": [
{
"id": "CD86_HUMAN",
"url": "https://www.uniprot.org/uniprot/P42081",
"type": "external"
}
],
"mass": 37682.0,
"length": 329,
"protein_name": "T-lymphocyte activation antigen CD86",
"gene_name": "CD86",
"organism": "Human",
"refseq_name": "T-lymphocyte activation antigen CD86 isoform 4 precursor",
"refseq_ac": [
{
"id": "NP_001193853",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193853",
"type": "external"
}
],
"gene_names_uniprotkb": "CD86; CD28LG2",
"gene_names_refseq": "B7-2; B7.2; B70; BU63; CD28LG2; CD86 v6; CD86; FUN-1; LAB72",
"protein_names_uniprotkb": "T-lymphocyte activation antigen CD86; Activation B7-2 antigen; B70; BU63; CTLA-4 counter-receptor B7.2; FUN-1",
"protein_names_refseq": "B-lymphocyte activation antigen B7-2; CD86 antigen (CD28 antigen ligand 2, B7-2 antigen); CTLA-4 counter-receptor B7.2; T-lymphocyte activation antigen CD86 isoform 4 precursor; T-lymphocyte activation antigen CD86",
"tax_id": 9606,
"disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); corneal disease (Disease Ontology:DOID:10124); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); IgA vasculitis (Disease Ontology:DOID:11123); aplastic anemia (Disease Ontology:DOID:12449); Guillain-Barre syndrome (Disease Ontology:DOID:12842); multiple sclerosis (Disease Ontology:DOID:2377); orchitis (Disease Ontology:DOID:2518); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); cryoglobulinemia (Disease Ontology:DOID:2917); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic scleroderma (Disease Ontology:DOID:418); pulmonary hypertension (Disease Ontology:DOID:6432); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)",
"pathway": " (hsa:942); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-389356); (R-HSA-389357); (R-HSA-389359); (R-HSA-389513); (R-HSA-6783783); (R-HSA-6811558)",
"pathway_count": 9,
"publication_count": 152,
"publication_id_list": "10092818;10191262;10415057;10433356;10694513;10799894;10849438;11147812;11162656;11237011;11279501;11803464;11976720;11994459;12138205;12167717;12196291;12554859;12582153;12606712;12626585;12660731;12670391;12670394;12767043;12832402;12876557;1325671;1460289;15142525;15718470;15834429;15886116;15919823;16339315;16456541;16551244;16647110;16818765;16920215;16982608;17200115;17626883;18079394;18295596;18317450;18439422;18594509;18606717;18754654;18755892;18829560;18925875;19185485;1940369;19405949;1940799;19411071;19576174;19644473;19805105;19962665;20145033;20231295;20338997;20522708;20713702;21188471;21317208;21368164;21478295;21668414;21827948;21976531;21984976;22120714;22188813;22588880;22802530;24190977;24743777;28904123;29242379;30484775;31217245;31848261;32350084;32983136;33091337;34357683;35154160;36051533;36796620;37614091;37918715;7510216;7512027;7512451;7516408;7520767;7527824;7541777;7543512;7593617;7594602;7637810;7684412;7687627;7694153;7694363;7737275;7744773;7902377;8063757;8102388;8120391;8163946;8186324;8301137;8537680;8609386;8621607;8638161;8645157;8649453;8657148;8662928;8734788;8742066;8871669;8897595;8910398;8921438;8946277;8946678;8990121;9013939;9032261;9312047;9354687;9438848;9449724;9550426;9694876;9712716;9736715;9794440;9822663;9836587;9895304;9918218;9973466",
"class_list": "",
"function": "(Microbial infection) Acts as a receptor for adenovirus subgroup B., [UniProtKB, PubMed]; B cell-mediated CD4 T-cell costimulation via CD86 exacerbates pro-inflammatory cytokine production during autoimmune intestinal inflammation., [RefSeq, PubMed]; Clinicopathologic Evaluation of CD80, CD86, and PD-L1 Expressions with Immunohistochemical Methods in Malignant Melanoma Patients., [RefSeq, PubMed]; Costimulatory molecule that belongs to the immunoglobulin superfamily that plays an important role in T-lymphocyte activation (PubMed:12196291, PubMed:7694363). Acts as the primary auxiliary signal augmenting the MHC/TCR signal in naive T-cells by acting as a ligand for the CD28 receptor which is constitutively expressed on the cell surface of T-cells (PubMed:12196291, PubMed:7694363). May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T-cells within 24 hours after activation (PubMed:7527824). Also involved in the regulation of B cells function, plays a role in regulating the level of IgG(1) produced. Upon CD40 engagement, activates NF-kappa-B signaling pathway via phospholipase C and protein kinase C activation (By similarity). Also acts as an inhibitor of T-cell activation by acting as a ligand for CTLA4, a decoy receptor, thereby blocking CD28-mediated T-cell priming (PubMed:11279501)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation., [UniProtKB, PubMed]; The Role of CD40, CD86, and Glutathione S-Transferase Omega 1 in the Pathogenesis of Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The levels of serum soluble CD86 are correlated with the expression of CD86 variant 3 gene and are prognostic indicators in patients with myeloma., [RefSeq, PubMed]; This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]., [RefSeq]",
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"reported_snv": 22,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"disease_count": 21,
"glyco_site_count": 8,
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"secondary_ac_list": "A0N0P0;B7Z2F3;B7Z702;E7ETN5;E9PC27;Q13655;Q6FHB1;Q6GTS4;Q7M4L5",
"ec_number_list": [],
"go_molecular_function": "GO:0015026 coreceptor activity;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity;GO:0038023 signaling receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0031295 T cell costimulation",
"synthesized_glycan_count": 0,
"hit_score": 15.4,
"record_id": "P42081-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "A2IDD5-1",
"uniprot_id": [
{
"id": "CCD78_HUMAN",
"url": "https://www.uniprot.org/uniprot/A2IDD5",
"type": "external"
}
],
"mass": 48521.0,
"length": 438,
"protein_name": "Coiled-coil domain-containing protein 78",
"gene_name": "CCDC78",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 78 isoform 1",
"refseq_ac": [
{
"id": "NP_001026907",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC78; C16orf25; JFP10",
"gene_names_refseq": "C16orf25; CCDC78; CNM4; JFP10; hsCCDC78",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 78; hsCCDC78",
"protein_names_refseq": "coiled-coil domain-containing protein 78 isoform 1; coiled-coil domain-containing protein 78; sarcoplasmin",
"tax_id": 9606,
"disease": "centronuclear myopathy 4 (Disease Ontology:DOID:0111224)",
"pathway": " (hsa:124093)",
"pathway_count": 1,
"publication_count": 9,
"publication_id_list": "11237011;20237496;22818856;24075808;29557506;34087483;38732148;39273074;39894887",
"class_list": "",
"function": "CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome., [UniProtKB, PubMed]; Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease. Publication Status: Online-Only, [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_snv": 4,
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"missing_score": 0,
"biomarker_type": "",
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"secondary_ac_list": "B4DNY4;B4E1U6;Q05BY7;Q05CA0;Q6T2V5;Q6ZR33;Q8IUR3;Q8NAY7;Q96S12",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0042383 sarcolemma;GO:0005814 centriole;GO:0016529 sarcoplasmic reticulum",
"go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0030030 cell projection organization;GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation",
"synthesized_glycan_count": 0,
"hit_score": 1.2,
"record_id": "A2IDD5-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P51587-1",
"uniprot_id": [
{
"id": "BRCA2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51587",
"type": "external"
}
],
"mass": 384230.0,
"length": 3418,
"protein_name": "Breast cancer type 2 susceptibility protein",
"gene_name": "BRCA2",
"organism": "Human",
"refseq_name": "breast cancer type 2 susceptibility protein isoform 1",
"refseq_ac": [
{
"id": "NP_000050",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000050",
"type": "external"
}
],
"gene_names_uniprotkb": "BRCA2; FACD; FANCD1",
"gene_names_refseq": "BRCA2; BRCC2; BROVCA2; FACD; FAD1; FAD; FANCD1; FANCD; GLM3; PNCA2; XRCC11",
"protein_names_uniprotkb": "Breast cancer type 2 susceptibility protein; Fanconi anemia group D1 protein",
"protein_names_refseq": "BRCA1/BRCA2-containing complex, subunit 2; BRCA2 DNA repair associated protein; DNA repair-associated BRCA2; Fanconi anemia group D1 protein; breast and ovarian cancer susceptibility gene, early onset; breast and ovarian cancer susceptibility protein 2; breast cancer 2 tumor suppressor; breast cancer 2, early onset; breast cancer type 2 susceptibility protein isoform 1; breast cancer type 2 susceptibility protein; mutant BRCA2; mutant DNA repair-associated protein 2",
"tax_id": 9606,
"disease": "medulloblastoma (Disease Ontology:DOID:0050902); ductal carcinoma in situ (Disease Ontology:DOID:0060074); colorectal carcinoma (Disease Ontology:DOID:0080199); Fanconi anemia complementation group D1 (Disease Ontology:DOID:0111089); prostate cancer (Disease Ontology:DOID:10283); atrophy of testis (Disease Ontology:DOID:11994); Fanconi anemia (Disease Ontology:DOID:13636); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); nephroblastoma (Disease Ontology:DOID:2154); ovarian cancer (Disease Ontology:DOID:2394); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); infertility (Disease Ontology:DOID:5223); hereditary breast ovarian cancer syndrome (Disease Ontology:DOID:5683); endometrial serous adenocarcinoma (Disease Ontology:DOID:5750); uveal melanoma (Disease Ontology:DOID:6039); cataract (Disease Ontology:DOID:83); skin melanoma (Disease Ontology:DOID:8923); colorectal cancer (Disease Ontology:DOID:9256); breast-ovarian cancer, familial, susceptibility to, 2 (MONDO:MONDO:0012933); glioma susceptibility 3 (MONDO:MONDO:0013093); pancreatic cancer, susceptibility to, 2 (MONDO:MONDO:0013235)",
"pathway": " (hsa:675); (R-HSA-5685939); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693616); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709275); (R-HSA-9709570); (R-HSA-9709603); (R-HSA-9763198)",
"pathway_count": 16,
"publication_count": 289,
"publication_id_list": "10.1101/2023.09.13.557529;10029069;10323242;10373512;10399947;10438626;10486320;10551859;10562567;10570174;10584720;10608806;10728666;10733923;10734115;10801132;10856253;10928988;10978364;11006276;11062481;11139248;11149425;11158174;11207042;11237011;11239456;11241844;11292842;11340072;11440997;11459987;11751635;11832208;11927503;11948123;11948477;12065746;12097290;12145750;12215251;12228710;12373604;12442171;12442273;12442274;12442275;12552570;12569143;12618335;12624724;12670525;12686547;12721304;12815053;12912992;12938098;14527420;14555511;14647438;14670928;14716019;14722926;14746861;15026808;15113441;15115758;15135726;15164066;15172753;15199141;15300854;15304223;15314155;15359272;15365993;15561706;15635067;15665856;15671039;15689453;15703751;15800615;15800651;15894703;15916957;15937124;15967112;16012167;16123081;16168123;16205630;16261408;16292313;16322221;16337601;16485136;16793542;16825431;16956909;17114795;17200668;17200671;17200672;17289582;17420451;17515903;17515904;17525332;17541404;17767707;17924331;17965729;17977839;17981954;17996710;17996711;18024013;18212739;18256600;18288416;18317453;18437078;18535008;18957201;19016568;19030985;19074197;19253839;19268590;19303847;19357644;19369211;19473207;19584259;19596236;19609323;19941829;20010525;20044539;20044541;20062530;20068231;20135345;20207730;20483915;20513136;20647759;20729832;20729858;20729859;20818382;20871615;20871616;20965415;21076401;21084279;21276791;21520333;21565612;21719596;21720365;21816818;22194698;22593209;22645308;22706990;22735704;22797065;23108138;23149936;23186163;23481700;23509288;23686288;23731732;23754376;23810717;24013206;24052750;24076221;24141787;24371268;24395671;24485656;24509834;24627786;24824029;24831703;24835992;24896180;25201414;25218637;25348552;25642960;25642963;25643323;25789972;25892735;26145171;26375851;26387543;26496279;26566883;26768311;26833090;26976601;27211102;27561088;27600516;27899578;27920218;27941124;28058502;28089683;28158555;28218747;28228285;28240985;28319063;28431939;28649982;28832583;28834231;29126202;29133916;29161300;29165669;29242379;29393594;29508533;29608566;29753700;29769354;29786170;29789417;30289697;30311374;30315122;30379171;30833945;31242413;31530632;31586400;31636395;31757951;31848261;31937595;32161166;32286328;32357974;32732220;33195396;33978741;34105348;34440403;34616022;36215666;37074911;37499663;37515771;38828772;39126233;39152168;39173195;39177589;39333100;7658781;8003475;8524414;8589730;8640235;8640236;8640237;8665505;8673091;8929543;9008167;9140390;9150152;9150155;9214649;9311981;9450758;9609997;9654203;9781043;9826763;9971877",
"class_list": "",
"function": "DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported., [RefSeq, PubMed]; Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer., [RefSeq, PubMed]; Incidence of endometrial cancer in BRCA mutation carriers., [RefSeq, PubMed]; The product of this gene in involved in maintenance of genome stability. It is involved in double-strand break repair pathways during mitotic and meiotic homologous recombination and functions in protecting DNA replication forks. The encoded protein contains sites for interactions with PALB2 and EMSY and an N-terminal DNA binding domain. It also contains a RAD51 binding domain with multiple components. It has multiple BRC repeats, an alpha helix domain, oligonucleotide binding folds, and a tower-like domain. It has a nuclear localization signal and a phosphorylation site for cyclin-dependent kinase. The C-terminus of the protein can bind single-stranded and double-stranded DNA. The product of this gene interacts with multiple proteins, including RAD51. It is involved in recruiting RAD51 filaments to DNA double-strand break sites and also in cytoplasmic division. It also acts as a tumor suppressor. Mutations in this gene or decreased expression have been implicated in multiple tumor types, including breast, ovarian, pancreatic, prostate and other cancers. [provided by RefSeq, May 2026]., [RefSeq]; Tumor suppressor protein that maintains genome stability primarily by repairing damaged DNA through homologous recombination (HR) (PubMed:11239456, PubMed:12442171, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:15937124, PubMed:17515903, PubMed:17515904, PubMed:18317453, PubMed:19303847, PubMed:20729832, PubMed:20729858, PubMed:20729859, PubMed:21719596, PubMed:27941124, PubMed:37499663, PubMed:37515771). Facilitates the repair of double-strand breaks (DSBs) by binding and mediating the loading of the RAD51 protein onto single-stranded DNA (ssDNA), thereby promoting the activity of RAD51, which catalyzes DNA strand exchange (PubMed:11239456, PubMed:12442171, PubMed:15937124, PubMed:17515903, PubMed:17515904, PubMed:18317453, PubMed:19303847, PubMed:20729832, PubMed:20729858, PubMed:20729859, PubMed:27941124, PubMed:37499663). BRCA2 nucleates and stabilizes RAD51 on ssDNA directly and delivers RAD51 to ssDNA-double-stranded DNA (dsDNA) junctions by sliding along dsDNA backbone (PubMed:12442171, PubMed:19303847, PubMed:37499663). RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilization of RAD51-ssDNA filaments by blocking ATP hydrolysis (PubMed:20729859). 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 (PubMed:24485656). Required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability (PubMed:24896180). 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). Also promotes RAD51 loading to telomeric regions, facilitating telomere replication and capping (PubMed:21076401). Also required for homologous recombination during meiosis by promoting the recruitment of RAD51 and DMC1 recombinases to meiotic DSB sites, enabling proper chromosome pairing and crossing over (PubMed:26976601). Also promotes homologous recombination by inactivating the FIGNL1-FIRRM complex to protect RAD51 filament from premature disassembly (PubMed:37515771). Together with NPM1, may also regulate centrosome duplication (PubMed:21084279)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "O00183;O15008;Q13879;Q5TBJ7",
"ec_number_list": [],
"go_molecular_function": "GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0003697 single-stranded DNA binding;GO:0043015 gamma-tubulin binding;GO:0010484 histone H3 acetyltransferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0030141 secretory granule",
"go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0070200 establishment of protein localization to telomere;GO:0006302 double-strand break repair",
"synthesized_glycan_count": 0,
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"record_id": "P51587-1",
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},
{
"uniprot_canonical_ac": "Q16656-1",
"uniprot_id": [
{
"id": "NRF1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q16656",
"type": "external"
}
],
"mass": 53541.0,
"length": 503,
"protein_name": "Nuclear respiratory factor 1",
"gene_name": "NRF1",
"organism": "Human",
"refseq_name": "nuclear respiratory factor 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001035199",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035199",
"type": "external"
}
],
"gene_names_uniprotkb": "NRF1",
"gene_names_refseq": "ALPHA-PAL; NRF1",
"protein_names_uniprotkb": "Nuclear respiratory factor 1; Alpha palindromic-binding protein; Alpha-pal; NRF-1",
"protein_names_refseq": "alpha palindromic-binding protein; nuclear respiratory factor 1 isoform 1",
"tax_id": 9606,
"disease": "Huntington's disease (Disease Ontology:DOID:12858); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:4899); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-9841251)",
"pathway_count": 4,
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"class_list": "",
"function": "Molecular mechanism of specific DNA sequence recognition by NRF1., [RefSeq, PubMed]; This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for 'nuclear factor (erythroid-derived 2)-like 1' which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]., [RefSeq]; Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication., [UniProtKB]",
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"biomarker_type": "",
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"secondary_ac_list": "A8K4C6;B4DDV6;Q15305;Q96AN2",
"ec_number_list": [],
"go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II",
"synthesized_glycan_count": 0,
"hit_score": 15.6,
"record_id": "Q16656-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6PGQ7-1",
"uniprot_id": [
{
"id": "BORA_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6PGQ7",
"type": "external"
}
],
"mass": 61203.0,
"length": 559,
"protein_name": "Protein aurora borealis",
"gene_name": "BORA",
"organism": "Human",
"refseq_name": "protein aurora borealis isoform 3",
"refseq_ac": [
{
"id": "NP_001273676",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273676",
"type": "external"
}
],
"gene_names_uniprotkb": "BORA; C13orf34",
"gene_names_refseq": "BORA; C13orf34",
"protein_names_uniprotkb": "Protein aurora borealis; HsBora",
"protein_names_refseq": "protein aurora borealis isoform 3; protein aurora borealis",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79866); (R-HSA-2565942); (R-HSA-69273)",
"pathway_count": 3,
"publication_count": 76,
"publication_id_list": "10393926;10395539;10600115;10652300;10827953;11063929;11237011;11238451;11313932;11897663;11907280;12207013;12364337;12411508;12754270;13678582;1384126;15024056;15456846;15572030;16582612;16890155;1717476;17533373;1828290;18285455;1836978;18378770;18384749;18394995;18477460;18521620;18566290;18615013;18669648;19160488;19192479;19690332;20360007;21813648;21900495;22365832;22641346;23186163;23242214;23442801;23481700;23592782;24675888;25742493;27846572;28649982;28904123;29154753;29242379;29557506;30379171;31844290;32387766;32488085;33141586;33298915;33402344;33771996;34287649;35051231;36010968;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9670027;9679058",
"class_list": "",
"function": "Aurora A kinase activation: Different means to different ends., [RefSeq, PubMed]; BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]., [RefSeq]; Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry. Publication Status: Online-Only, [RefSeq, PubMed]; Plk1 controls Aurora A localization and function by regulating cellular levels of hBora., [RefSeq, PubMed]; Required for the activation of AURKA at the onset of mitosis., [UniProtKB, PubMed]; Study concludes that tight regulation of the Bora protein by its synthesis and degradation is critical for cell cycle progression., [RefSeq, PubMed]; Study reports that the synergistic action of Bora & the kinase Aurora A controls G2-M transition; Bora accumulates in G2 phase & promotes Aur-A-mediated activation of Polo-like kinase 1, leading to activation of cyclin-dependent kinase 1 & mitotic entry, [RefSeq, PubMed]",
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"secondary_ac_list": "B4DQ30;Q5W0P3;Q5W0P4;Q86YC6;Q96IW9;Q9H640",
"ec_number_list": [],
"go_molecular_function": "GO:0019901 protein kinase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072687 meiotic spindle",
"go_biological_process": "GO:0051301 cell division;GO:0032880 regulation of protein localization;GO:0060236 regulation of mitotic spindle organization;GO:0007088 regulation of mitotic nuclear division",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O00303-1",
"uniprot_id": [
{
"id": "EIF3F_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00303",
"type": "external"
}
],
"mass": 37564.0,
"length": 357,
"protein_name": "Eukaryotic translation initiation factor 3 subunit F",
"gene_name": "EIF3F",
"organism": "Human",
"refseq_name": "eukaryotic translation initiation factor 3 subunit F",
"refseq_ac": [
{
"id": "NP_003745",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003745",
"type": "external"
}
],
"gene_names_uniprotkb": "EIF3F; EIF3S5",
"gene_names_refseq": "EIF3F; EIF3S5; MRT67; eIF3-p47",
"protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit F; 3.4.19.12; Deubiquitinating enzyme eIF3f; Eukaryotic translation initiation factor 3 subunit 5; eIF-3-epsilon; eIF3 p47; eIF3f",
"protein_names_refseq": "deubiquitinating enzyme eIF3f; eIF-3-epsilon; eIF3-epsilon; eukaryotic translation initiation factor 3 subunit F; eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD); eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa",
"tax_id": 9606,
"disease": "autosomal recessive intellectual developmental disorder 67 (Disease Ontology:DOID:0081228); type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:8665); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)",
"pathway_count": 7,
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"class_list": "",
"function": "Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773)., [UniProtKB, PubMed, HAMAP, PubMed, PubMed, UniProtKB]; Deubiquitinates activated NOTCH1, promoting its nuclear import, thereby acting as a positive regulator of Notch signaling., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; EIF3f Mediates SGOC Pathway Reprogramming by Enhancing Deubiquitinating Activity in Colorectal Cancer., [RefSeq, PubMed]",
"predicted_glycosites": 3,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 8,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 16,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 2,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K0S2;Q6IB45;Q8N978",
"ec_number_list": [
{
"id": "3.4.19.12",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12",
"type": "external"
},
{
"id": "4.2.99.18",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18",
"type": "external"
},
{
"id": "3.6.5.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3",
"type": "external"
},
{
"id": "3.6.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13",
"type": "external"
}
],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0003743 translation initiation factor activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0031369 translation initiation factor binding;GO:0140492 metal-dependent deubiquitinase activity",
"go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex",
"go_biological_process": "GO:0075522 IRES-dependent viral translational initiation;GO:0006508 proteolysis;GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex",
"synthesized_glycan_count": 0,
"hit_score": 14.7,
"record_id": "O00303-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9BXW9-2",
"uniprot_id": [
{
"id": "FACD2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BXW9",
"type": "external"
}
],
"mass": 164128.0,
"length": 1451,
"protein_name": "Fanconi anemia group D2 protein",
"gene_name": "FANCD2",
"organism": "Human",
"refseq_name": "Fanconi anemia group D2 protein isoform b",
"refseq_ac": [
{
"id": "NP_001018125",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018125",
"type": "external"
}
],
"gene_names_uniprotkb": "FANCD2; FACD",
"gene_names_refseq": "FA-D2; FA4; FACD; FAD2; FAD; FANCD2; FANCD",
"protein_names_uniprotkb": "Fanconi anemia group D2 protein; Protein FACD2",
"protein_names_refseq": "Fanconi anemia complementation group D2; Fanconi anemia group D2 protein isoform b; fanconi anemia group D2 protein",
"tax_id": 9606,
"disease": "Fanconi anemia complementation group D2 (Disease Ontology:DOID:0111083); Fanconi anemia (Disease Ontology:DOID:13636); breast cancer (Disease Ontology:DOID:1612); skin melanoma (Disease Ontology:DOID:8923)",
"pathway": " (hsa:2177); (R-HSA-6783310); (R-HSA-6796648)",
"pathway_count": 3,
"publication_count": 188,
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"class_list": "",
"function": "FANCD2 counteracts O[6]-methylguanine-induced mismatch repair-dependent apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation. Publication Status: Online-Only, [RefSeq, PubMed]; FANCD2-FANCI surveys DNA and recognizes double- to single-stranded junctions. Erratum:[Nature. 2025 Mar;639(8053):E2. doi: 10.1038/s41586-025-08763-z. PMID: 39962266], [RefSeq, PubMed]; Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival. Erratum:[BMC Med Genomics. 2024 May 14;17(1):129. doi: 10.1186/s12920-024-01896-6. PMID: 38745241] Publication Status: Online-Only, [RefSeq, PubMed]; Required for maintenance of chromosomal stability (PubMed:11239453, PubMed:14517836). Promotes accurate and efficient pairing of homologs during meiosis (PubMed:14517836). Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing (PubMed:15671039, PubMed:15650050, PubMed:30335751, 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 (By similarity). May participate in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:15377654). Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress (PubMed:15454491, PubMed:15661754). Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress (PubMed:15661754, PubMed:19465921). Promotes BRCA2/FANCD1 loading onto damaged chromatin (PubMed:11239454, PubMed:12239151, PubMed:12086603, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:18212739). May also be involved in B-cell immunoglobulin isotype switching., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]",
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"secondary_ac_list": "Q2LA86;Q69YP9;Q6PJN7;Q9BQ06;Q9H9T9",
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"go_molecular_function": "GO:0070182 DNA polymerase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016604 nuclear body;GO:0000793 condensed chromosome",
"go_biological_process": "GO:0010332 response to gamma radiation;GO:0031573 mitotic intra-S DNA damage checkpoint signaling;GO:0036297 interstrand cross-link repair;GO:0007129 homologous chromosome pairing at meiosis;GO:1990918 double-strand break repair involved in meiotic recombination",
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"record_id": "Q9BXW9-2",
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},
{
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{
"id": "NCBP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q09161",
"type": "external"
}
],
"mass": 91839.0,
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"protein_name": "Nuclear cap-binding protein subunit 1",
"gene_name": "NCBP1",
"organism": "Human",
"refseq_name": "nuclear cap-binding protein subunit 1 isoform 1",
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{
"id": "NP_002477",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002477",
"type": "external"
}
],
"gene_names_uniprotkb": "NCBP1; CBP80; NCBP",
"gene_names_refseq": "CBP80; NCBP1; NCBP; Sto1",
"protein_names_uniprotkb": "Nuclear cap-binding protein subunit 1; 80 kDa nuclear cap-binding protein; CBP80; NCBP 80 kDa subunit",
"protein_names_refseq": "80 kDa nuclear cap-binding protein; NCBP 80 kDa subunit; nuclear cap binding protein subunit 1, 80kDa; nuclear cap-binding protein subunit 1 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4686); (R-HSA-111367); (R-HSA-112382); (R-HSA-113418); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167242); (R-HSA-191859); (R-HSA-674695); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-73856); (R-HSA-77588); (R-HSA-77595); (R-HSA-8851708); (R-HSA-9010553); (R-HSA-975956); (R-HSA-975957); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9930044)",
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"function": "Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5'-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5'-end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2 and is required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP1/CBP80 does not bind directly capped RNAs (m7GpppG-capped RNA) but is required to stabilize the movement of the N-terminal loop of NCBP2/CBP20 and lock the CBC into a high affinity cap-binding state with the cap structure. Associates with NCBP3 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export and is particularly important in cellular stress situations such as virus infections. The conventional CBC with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus whereas the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role only in mRNA export. NCBP1/CBP80 is required for cell growth and viability (PubMed:26382858)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification and validation of N[7] -methylguanosine-associated gene NCBP1 as prognostic and immune-associated biomarkers in breast cancer patients., [RefSeq, PubMed]; The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B2R718;Q59G76;Q5T1V0;Q5T7X2",
"ec_number_list": [],
"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0000340 RNA 7-methylguanosine cap binding;GO:0000339 RNA cap binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex",
"go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0016071 mRNA metabolic process;GO:0006406 mRNA export from nucleus;GO:0030307 positive regulation of cell growth;GO:0051607 defense response to virus",
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},
{
"uniprot_canonical_ac": "P35227-1",
"uniprot_id": [
{
"id": "PCGF2_HUMAN",
"url": "https://www.uniprot.org/uniprot/P35227",
"type": "external"
}
],
"mass": 37788.0,
"length": 344,
"protein_name": "Polycomb group RING finger protein 2",
"gene_name": "PCGF2",
"organism": "Human",
"refseq_name": "polycomb group RING finger protein 2",
"refseq_ac": [
{
"id": "NP_009075",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009075",
"type": "external"
}
],
"gene_names_uniprotkb": "PCGF2; MEL18; RNF110; ZNF144",
"gene_names_refseq": "MEL-18; PCGF2; RNF110; TPFS; ZNF144",
"protein_names_uniprotkb": "Polycomb group RING finger protein 2; DNA-binding protein Mel-18; RING finger protein 110; Zinc finger protein 144",
"protein_names_refseq": "DNA-binding protein Mel-18; polycomb group RING finger protein 2; ring finger protein 110; zinc finger protein 144",
"tax_id": 9606,
"disease": "turnpenny-fry syndrome (MONDO:MONDO:0032707)",
"pathway": " (hsa:7703); (R-HSA-3108214); (R-HSA-3899300); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4655427); (R-HSA-5617472); (R-HSA-8953750)",
"pathway_count": 8,
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"class_list": "",
"function": "AKT-mediated regulation of chromatin ubiquitylation and tumorigenesis through Mel18 phosphorylation., [RefSeq, PubMed]; SLCO4A1-AS1 triggers the malignant behaviours of melanoma cells via sponging miR-1306-5p to enhance PCGF2., [RefSeq, PubMed]; The mouse counterpart of this gene regulates the expression of Th2 cytokines, and plays a critical role in Th2 cell differentiation and Th-2 dependent immune responses., [RefSeq, PubMed]; The mouse counterpart of this gene regulates the expression of various chemokines and chemokine receptors, which may be important for T cell migration and differentiation., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332)., [UniProtKB, UniProtKB, PubMed]",
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"secondary_ac_list": "A6NGD8",
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"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:1990841 promoter-specific chromatin binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0031519 PcG protein complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation",
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"hit_score": 20.9,
"record_id": "P35227-1",
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},
{
"uniprot_canonical_ac": "P08567-1",
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{
"id": "PLEK_HUMAN",
"url": "https://www.uniprot.org/uniprot/P08567",
"type": "external"
}
],
"mass": 40125.0,
"length": 350,
"protein_name": "Pleckstrin",
"gene_name": "PLEK",
"organism": "Human",
"refseq_name": "pleckstrin",
"refseq_ac": [
{
"id": "NP_002655",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002655",
"type": "external"
}
],
"gene_names_uniprotkb": "PLEK; P47",
"gene_names_refseq": "P47; PLEK1; PLEK",
"protein_names_uniprotkb": "Pleckstrin; Platelet 47 kDa protein; p47",
"protein_names_refseq": "platelet 47 kDa protein; pleckstrin",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:5341); (R-HSA-114608)",
"pathway_count": 2,
"publication_count": 91,
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"class_list": "",
"function": "A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58., [RefSeq, PubMed]; Higher expression of PLEK and LY86 as the potential biomarker of carotid atherosclerosis., [RefSeq, PubMed]; Major protein kinase C substrate of platelets., [UniProtKB]; Pleckstrin Levels Are Increased in Patients with Chronic Periodontitis and Regulated via the MAP Kinase-p38alpha Signaling Pathway in Gingival Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0005080 protein kinase C binding;GO:0019211 phosphatase activator activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0050849 negative regulation of calcium-mediated signaling;GO:0002576 platelet degranulation;GO:0007229 integrin-mediated signaling pathway;GO:0035556 intracellular signal transduction",
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"record_id": "P08567-1",
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},
{
"uniprot_canonical_ac": "Q9UJ41-2",
"uniprot_id": [
{
"id": "RABX5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UJ41",
"type": "external"
}
],
"mass": 56891.0,
"length": 491,
"protein_name": "Rab5 GDP/GTP exchange factor",
"gene_name": "RABGEF1",
"organism": "Human",
"refseq_name": "rab5 GDP/GTP exchange factor isoform a",
"refseq_ac": [
{
"id": "NP_001273989",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273989",
"type": "external"
}
],
"gene_names_uniprotkb": "RABGEF1; RABEX5",
"gene_names_refseq": "RABEX5; RABGEF1; RAP1; rabex-5",
"protein_names_uniprotkb": "Rab5 GDP/GTP exchange factor; RAP1; Rabaptin-5-associated exchange factor for Rab5; Rabex-5",
"protein_names_refseq": "RAB guanine nucleotide exchange factor (GEF) 1; Rab5 GDP/GTP exchange factor; rab5 GDP/GTP exchange factor isoform a; rabaptin-5-associated exchange factor for Rab5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27342); (R-HSA-8854214); (R-HSA-8876198)",
"pathway_count": 3,
"publication_count": 264,
"publication_id_list": "10202141;10818110;10990452;11038176;11098082;11179213;11452015;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12505986;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15339665;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16055087;16207721;16373702;16395330;16410077;16499958;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17081983;17132146;17189207;17208202;17239822;17287728;17450153;17488286;17562788;17574030;17646400;17658474;17671165;17678623;17901050;18076383;18088087;18094055;18199687;18319245;18354496;18367545;1845915;18466115;18477474;18559336;18585354;18664496;18669648;18691976;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19413330;19490898;19608861;19620288;19656848;19725050;19729655;19745841;20008558;20068231;20095038;20116244;20154091;20159109;20159556;20305638;20308558;20363736;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21383079;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22219378;22365832;22433857;22511774;22581368;22595670;22613832;22622570;22648168;22653444;22705394;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23562278;23645161;23678941;23684622;23713133;23839779;24275569;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26925400;26936971;27041585;27044746;27103185;27246931;27329675;27920218;28411811;28514659;28832583;28834231;29242379;29331515;29493099;29508533;29557506;29786170;30315122;30784271;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33166495;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34211107;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36284347;37217939;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780",
"class_list": "",
"function": "Acts as a guanine-nucleotide releasing factor (GEF) for RAB5A by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:15339665, PubMed:9323142). Forms a complex with RABEP1 that acts as Rab4/Rab5 effector regulating endosome fusion. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:11452015, PubMed:9323142). Also functions as a ubiquitin ligase (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; GGAs, a family of Arf-dependent clathrin adaptors involved in selection of TGN cargo, interact with the Rabaptin-5-Rabex-5 complex, a Rab4/Rab5 effector regulating endosome fusion, [RefSeq, PubMed]; RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]., [RefSeq]; RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"total_reported_n_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 10,
"reported_mutagensis": 5,
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"reported_snv": 1,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B4DZM7;Q3HKR2;Q3HKR3;Q53FG0",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0061630 ubiquitin protein ligase activity;GO:0031267 small GTPase binding",
"go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0030425 dendrite;GO:0055037 recycling endosome;GO:0031901 early endosome membrane",
"go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0006612 protein targeting to membrane;GO:0016197 endosomal transport;GO:0098935 dendritic transport",
"synthesized_glycan_count": 0,
"hit_score": 26.7,
"record_id": "Q9UJ41-2",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q86XK3-1",
"uniprot_id": [
{
"id": "SFR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86XK3",
"type": "external"
}
],
"mass": 28262.0,
"length": 245,
"protein_name": "Swi5-dependent recombination DNA repair protein 1 homolog",
"gene_name": "SFR1",
"organism": "Human",
"refseq_name": "swi5-dependent recombination DNA repair protein 1 homolog isoform a",
"refseq_ac": [
{
"id": "NP_001002759",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002759",
"type": "external"
}
],
"gene_names_uniprotkb": "SFR1; C10orf78; MEI5; MEIR5",
"gene_names_refseq": "C10orf78; MEI5; MEIR5; SFR1; bA373N18.1",
"protein_names_uniprotkb": "Swi5-dependent recombination DNA repair protein 1 homolog; Meiosis protein 5 homolog",
"protein_names_refseq": "MEI5 recombination repair protein homolog; SWI5-dependent recombination repair 1; SWI5-dependent recombination repair protein 1; meiosis protein 5 homolog; swi5-dependent recombination DNA repair protein 1 homolog isoform a; swi5-dependent recombination DNA repair protein 1 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:119392)",
"pathway_count": 1,
"publication_count": 35,
"publication_id_list": "16385451;18767875;19690332;20068231;21252223;23186163;23874500;24366607;25576301;25880248;25892735;27920218;28228285;28832583;29242379;29393594;29769354;30315122;30429286;30779550;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32938616;33592498;33691108;33717175;33912179;33968037;33981976;35051231",
"class_list": "",
"function": "Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SFR1 is a novel transcriptional modulator for ERalpha and a potential target in breast cancer therapy. Publication Status: Online-Only, [RefSeq, PubMed]; That human SWI5-MEI5 has an evolutionarily conserved function in homologous recombination repair., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "A8K569;B2RTV8;Q5JT39;Q5JT40;Q8WW47",
"ec_number_list": [],
"go_molecular_function": "GO:0003713 transcription coactivator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000228 nuclear chromosome;GO:0032798 Swi5-Sfr1 complex",
"go_biological_process": "GO:0000707 meiotic DNA recombinase assembly;GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0000724 double-strand break repair via homologous recombination;GO:0071391 cellular response to estrogen stimulus",
"synthesized_glycan_count": 0,
"hit_score": 3.6,
"record_id": "Q86XK3-1",
"record_type": "protein",
"filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9C004-1",
"uniprot_id": [
{
"id": "SPY4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9C004",
"type": "external"
}
],
"mass": 32541.0,
"length": 299,
"protein_name": "Protein sprouty homolog 4",
"gene_name": "SPRY4",
"organism": "Human",
"refseq_name": "protein sprouty homolog 4 isoform 1",
"refseq_ac": [
{
"id": "NP_112226",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_112226",
"type": "external"
}
],
"gene_names_uniprotkb": "SPRY4",
"gene_names_refseq": "HH17; SPRY4",
"protein_names_uniprotkb": "Protein sprouty homolog 4; Spry-4",
"protein_names_refseq": "protein sprouty homolog 4 isoform 1; protein sprouty homolog 4",
"tax_id": 9606,
"disease": "hypogonadotropic hypogonadism 17 with or without anosmia (Disease Ontology:DOID:0090079)",
"pathway": " (hsa:81848)",
"pathway_count": 1,
"publication_count": 17,
"publication_id_list": "11237011;12027893;12717443;14977631;15584898;21406692;22223895;23186163;23643382;32157095;33968037;34339801;35051231;36082406;36215666;36384366;37042573",
"class_list": "",
"function": "Core promoter activity is located within proximal 0.4-kb region. Minimal ERK-inducible promoter activity is between -69 and -31. Core promoter region of hSpry4 gene exhibits significant homology to 5'-flanking region of mouse gene., [RefSeq, PubMed]; Coupling HDAC4 with transcriptional factor MEF2D abrogates SPRY4-mediated suppression of ERK activation and elicits hepatocellular carcinoma drug resistance., [RefSeq, PubMed]; Interacts with the dual specificity kinase TESK1; maps to 5q31.3, [RefSeq, PubMed]; PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-kappaB signaling pathway., [RefSeq, PubMed]; SPRY4 promotes adipogenic differentiation of human mesenchymal stem cells through the MEK-ERK1/2 signaling pathway., [RefSeq, PubMed]; Sprouty4 is epigenetically upregulated in human colorectal cancer., [RefSeq, PubMed]; Sprouty4 suppresses vascular epithelial growth factor (VEGF)-induced, Ras-independent activation of Raf1 but does not affect epidermal growth factor (EGF)-induced, Ras-dependent activation of Raf1., [RefSeq, PubMed]; 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)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]",
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "A4FVB2;A4FVB3;Q6QIX2;Q9C003",
"ec_number_list": [],
"go_molecular_function": "GO:0004860 protein kinase inhibitor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0032587 ruffle membrane;GO:0016020 membrane",
"go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:1900025 negative regulation of substrate adhesion-dependent cell spreading;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway;GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 1.8,
"record_id": "Q9C004-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P13501-1",
"uniprot_id": [
{
"id": "CCL5_HUMAN",
"url": "https://www.uniprot.org/uniprot/P13501",
"type": "external"
}
],
"mass": 9990.0,
"length": 91,
"protein_name": "C-C motif chemokine 5",
"gene_name": "CCL5",
"organism": "Human",
"refseq_name": "C-C motif chemokine 5 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_002976",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002976",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL5; D17S136E; SCYA5",
"gene_names_refseq": "CCL5; D17S136E; RANTES; SCYA5; SIS-delta; SISd; TCP228; eoCP",
"protein_names_uniprotkb": "C-C motif chemokine 5; EoCP; Eosinophil chemotactic cytokine; SIS-delta; Small-inducible cytokine A5; T cell-specific protein P228; T-cell-specific protein RANTES; TCP228",
"protein_names_refseq": "C-C motif chemokine 5 isoform 1 precursor; C-C motif chemokine 5; T-cell specific protein p288; beta-chemokine RANTES; chemokine (C-C motif) ligand 5; eosinophil chemotactic cytokine; regulated upon activation, normally T-expressed, and presumably secreted; small inducible cytokine subfamily A (Cys-Cys), member 5",
"tax_id": 9606,
"disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); cardiac arrest (Disease Ontology:DOID:0060319); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); exercise-induced bronchoconstriction (Disease Ontology:DOID:0080821); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); glucose intolerance (Disease Ontology:DOID:10603); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); allergic conjunctivitis (Disease Ontology:DOID:11204); sciatic neuropathy (Disease Ontology:DOID:11446); Chagas disease (Disease Ontology:DOID:12140); primary biliary cholangitis (Disease Ontology:DOID:12236); alcoholic hepatitis (Disease Ontology:DOID:12351); bronchopneumonia (Disease Ontology:DOID:12375); posterior uveitis (Disease Ontology:DOID:12574); uveitis (Disease Ontology:DOID:13141); pulmonary sarcoidosis (Disease Ontology:DOID:13406); peptic esophagitis (Disease Ontology:DOID:13976); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); orchitis (Disease Ontology:DOID:2518); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); antiphospholipid syndrome (Disease Ontology:DOID:2988); invasive ductal carcinoma (Disease Ontology:DOID:3008); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); cocaine abuse (Disease Ontology:DOID:809); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:6352); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)",
"pathway_count": 4,
"publication_count": 138,
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"class_list": "",
"function": "CCL5 promotes the epithelial-mesenchymal transition of circulating tumor cells in renal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) (PubMed:1380064, PubMed:15923218, PubMed:16791620, PubMed:8525373, PubMed:9516414). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cylindromatosis lysine 63 deubiquitinase (CYLD) suppress TLR3-mediated CCL5 expression in human renal proximal tubular epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane",
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},
{
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{
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{
"id": "NP_001249",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001249",
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"protein_names_uniprotkb": "Cyclin-dependent kinase 3; 2.7.11.22; Cell division protein kinase 3",
"protein_names_refseq": "cell division protein kinase 3; cyclin-dependent kinase 3",
"tax_id": 9606,
"disease": "cancer (Disease Ontology:DOID:162)",
"pathway": " (hsa:1018)",
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"publication_id_list": "11237011;15084261;1639063;16546994;16964243;17016520;17192257;17287340;17344846;18491316;18669648;18691976;18707149;18794154;19651622;19664995;19901323;20230923;24366607;25645385;28489076;29242379;29344850;32157095;32938616;33141586;33298915;33504681;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34405274;34509645;34932366;35051231;36010968;39894887;8846921",
"class_list": "",
"function": "CircRNA_141539 can serve as an oncogenic factor in esophageal squamous cell carcinoma by sponging miR-4469 and activating CDK3 gene., [RefSeq, PubMed]; HuR facilitated lung cancer stemness dependent on CDK3 expression. miR-873 or miR-125a-3p level was negatively correlated with HuR and CDK3 expression levels in lung cancer tissues. HuR facilitates lung cancer stemness via regulating miR-873/CDK3 and miR-125a-3p/CDK3 axis., [RefSeq, PubMed]; Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0-G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1-independent manner., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]., [RefSeq]",
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],
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"go_biological_process": "GO:0007165 signal transduction;GO:0008283 cell population proliferation;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0006974 DNA damage response",
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{
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"protein_name": "Cyclin-dependent kinase inhibitor 3",
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{
"id": "NP_001124323",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124323",
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],
"gene_names_uniprotkb": "CDKN3; CDI1; CIP2; KAP",
"gene_names_refseq": "CDI1; CDKN3; CIP2; KAP1; KAP",
"protein_names_uniprotkb": "Cyclin-dependent kinase inhibitor 3; 3.1.3.16; 3.1.3.48; CDK2-associated dual-specificity phosphatase; Cyclin-dependent kinase interactor 1; Cyclin-dependent kinase-interacting protein 2; Kinase-associated phosphatase",
"protein_names_refseq": "CDK2-associated dual specificity phosphatase; Cdk-associated protein phosphatase; cyclin-dependent kinase inhibitor 3 isoform 2; cyclin-dependent kinase inhibitor; cyclin-dependent kinase interacting protein 2; cyclin-dependent kinase interactor 1; kinase-associated phosphatase",
"tax_id": 9606,
"disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:1033)",
"pathway_count": 1,
"publication_count": 47,
"publication_id_list": "10669749;10987270;11237011;11463386;11781350;12745075;15671017;26154972;26992070;27846572;27920218;28514659;28832583;28904123;29242379;29393594;29557506;29786170;30315122;30833945;31154438;31217245;31222486;31530632;31844290;32157095;32502341;32897882;32938616;32983136;33298915;33691108;33936100;33968037;34087483;34171305;35051231;36010968;36241641;38030294;38720365;38814199;39383787;39894887;7569954;8127873;8242750",
"class_list": "",
"function": "Human pan-cancer analysis of the predictive biomarker for the CDKN3. Publication Status: Online-Only, [RefSeq, PubMed]; Integrative analysis of anoikis-related genes prognostic signature with immunotherapy and identification of CDKN3 as a key oncogene in lung adenocarcinoma. Erratum:[Int Immunopharmacol. 2024 Dec 25;143(Pt 3):113584. doi: 10.1016/j.intimp.2024.113584. PMID: 39580329], [RefSeq, PubMed]; May play a role in cell cycle regulation. Dual specificity CC phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues (PubMed:8127873, PubMed:8242750). Dephosphorylates CDK2 at 'Thr-160' in a cyclin-dependent manner (PubMed:7569954)., [UniProtKB, PubMed, PubMed, PubMed]; May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues., [UniProtKB, UniProtKB, UniProtKB]; MicroRNA-127-3p Inhibits Cardiomyocyte Inflammation and Apoptosis after Acute Myocardial Infarction via Targeting CDKN3., [RefSeq, PubMed]; N6-Methyladenosine modified circ-NAB1 modulates cell cycle and epithelial-mesenchymal transition via CDKN3 in endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]",
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{
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{
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"id": "3.1.3.74",
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"go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0000082 G1/S transition of mitotic cell cycle;GO:0051726 regulation of cell cycle",
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{
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{
"id": "DMC1_HUMAN",
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"mass": 37681.0,
"length": 340,
"protein_name": "Meiotic recombination protein DMC1 homolog",
"gene_name": "DMC1",
"organism": "Human",
"refseq_name": "meiotic recombination protein DMC1/LIM15 homolog isoform 2",
"refseq_ac": [
{
"id": "NP_001265137",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265137",
"type": "external"
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],
"gene_names_uniprotkb": "DMC1; DMC1H; LIM15",
"gene_names_refseq": "DMC1H; DMC1; LIM15; dJ199H16.1",
"protein_names_uniprotkb": "Meiotic recombination protein DMC1 homolog; 3.6.4.-",
"protein_names_refseq": "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination; disrupted meiotic cDNA1, yeast, homolog of; meiotic recombination protein DMC1/LIM15 homolog isoform 2; meiotic recombination protein DMC1/LIM15 homolog",
"tax_id": 9606,
"disease": "Sertoli cell-only syndrome (Disease Ontology:DOID:0050457); Hirschsprung's disease (Disease Ontology:DOID:10487); hydrocephalus (Disease Ontology:DOID:10908); cancer (Disease Ontology:DOID:162); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409); myocardial infarction (Disease Ontology:DOID:5844)",
"pathway": " (hsa:11144); (R-HSA-912446)",
"pathway_count": 2,
"publication_count": 66,
"publication_id_list": "10029069;10438626;10562567;10728666;10734115;10928988;11237011;11292842;14764457;15125839;15164066;15304223;16123081;16292313;16322221;17541404;17965729;17977839;17981954;18256600;18477386;18535008;20044539;20044541;20062530;20729832;20818382;21307306;21903585;25576301;26976601;26992070;27862975;27920218;28228285;28832583;28834231;28904123;29393594;29608566;30429286;30524438;31217245;31429579;31844290;31848261;32897882;32983136;33717175;34087483;34171305;35561310;35729697;35946537;37891173;38142595;38828772;39333100;8590282;8602360;8929543;9008167;9311981;9450758;9781043;9826763",
"class_list": "",
"function": "FIGNL1 AAA+ ATPase remodels RAD51 and DMC1 filaments in pre-meiotic DNA replication and meiotic recombination. Publication Status: Online-Only, [RefSeq, PubMed]; Homologous DNA recombinase that catalyzes strand exchange during meiotic recombination (PubMed:15164066, PubMed:21307306, PubMed:26976601). Specifically required for meiotic recombination, facilitating the search and repair of DNA using the homolog rather than the sister chromatid, and can tolerate mismatches in heteroduplex DNA, unlike the higher-fidelity RAD51 (PubMed:15164066, PubMed:26976601)., [UniProtKB, PubMed, PubMed, PubMed]; MiR-4284 inhibits sensitivity to paclitaxel in human ovarian carcinoma SKOV3ip1 and HeyA8 cells by targeting DMC1., [RefSeq, PubMed]; P53 might be involved in homologous recombination and/or checkpoint function by directly binding to DMC1 protein to repress genomic instability in meiotic germ cells, [RefSeq, PubMed]; Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication. Review article, [RefSeq, PubMed]; Recent advances in functional conservation and divergence of recombinase RAD51 and DMC1. Review article, [RefSeq, PubMed]; The monomeric structure of the Dmc1 protein closely resembled those of the human and archaeal Rad51 proteins. We found another hydrogen bonding interaction at the polymer interface., [RefSeq, PubMed]; This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]",
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"reported_mutagensis": 14,
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"missing_score": 10000,
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"disease_count": 9,
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"secondary_ac_list": "A8K9A2;B4DMW6;Q08AI1;Q99498;Q9UH11",
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{
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],
"go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0003690 double-stranded DNA binding;GO:0003697 single-stranded DNA binding",
"go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0005694 chromosome",
"go_biological_process": "GO:0006312 mitotic recombination;GO:0007283 spermatogenesis;GO:1990918 double-strand break repair involved in meiotic recombination;GO:0007131 reciprocal meiotic recombination;GO:0007292 female gamete generation",
"synthesized_glycan_count": 0,
"hit_score": 6.7,
"record_id": "Q14565-1",
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},
{
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{
"id": "BRF2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HAW0",
"type": "external"
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],
"mass": 46533.0,
"length": 419,
"protein_name": "Transcription factor IIIB 50 kDa subunit",
"gene_name": "BRF2",
"organism": "Human",
"refseq_name": "transcription factor IIIB 50 kDa subunit",
"refseq_ac": [
{
"id": "NP_060780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060780",
"type": "external"
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],
"gene_names_uniprotkb": "BRF2; BRFU; PRO1470",
"gene_names_refseq": "BRF2; BRFU; TFIIIB50",
"protein_names_uniprotkb": "Transcription factor IIIB 50 kDa subunit; B-related factor 2; BRF-2; TFIIIB50; hBRFU; hTFIIIB50",
"protein_names_refseq": "B-related factor 2; BRF-2; BRF2 RNA polymerase III transcription initiation factor subunit; BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit; BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like; RNA polymerase III transcription initiation factor BRFU; hBRFU; hTFIIIB50; transcription factor IIB- related factor, TFIIIB50; transcription factor IIIB 50 kDa subunit",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55290); (R-HSA-749476); (R-HSA-76071)",
"pathway_count": 3,
"publication_count": 55,
"publication_id_list": "10421633;11040218;11056176;11121026;11237011;11463379;11483580;11564744;12016223;12391172;12621023;14527415;16227591;16769183;17505538;17624304;18669648;23186163;26638071;26768311;27920218;28832583;29242379;30315122;30379171;30429286;30524438;31154438;31844290;31848261;31964245;32157095;32161166;32387766;32502341;32705258;32897882;32938616;33176745;33453679;33592498;33968037;34932366;35051231;35318648;35561310;35580925;35705054;36010968;36241641;40596516;7891697;9003788;9234698;9418884",
"class_list": "",
"function": "A meta-analysis of BRF2 as a prognostic biomarker in invasive breast carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites (PubMed:11040218, PubMed:11121026, PubMed:11564744, PubMed:26638071). Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress (PubMed:26638071). Down-regulates expression of target genes in response to oxidative stress (PubMed:26638071). Overexpression protects cells against apoptosis in response to oxidative stress (PubMed:26638071)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MicroRNA-425-5p Inhibits Lung Cancer Cell Growth in Vitro and in Vivo by Downregulating TFIIB-Related Factor 2., [RefSeq, PubMed]; Silencing of BRF2 inhibits the growth and metastasis of lung cancer cells., [RefSeq, PubMed]; TFIIB-related factor 2 regulates glucose-regulated protein 78 expression in acquired middle ear cholesteatoma., [RefSeq, PubMed]; This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B2RD62;B4DFZ6;D3DSW6;Q9H2Y3;Q9H3B3;Q9NUY6",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0017025 TBP-class protein binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0001006 RNA polymerase III type 3 promoter sequence-specific DNA binding",
"go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000126 transcription factor TFIIIB complex",
"go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0045945 positive regulation of transcription by RNA polymerase III;GO:0006359 regulation of transcription by RNA polymerase III;GO:0070897 transcription preinitiation complex assembly;GO:0006351 DNA-templated transcription",
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},
{
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{
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],
"mass": 55179.0,
"length": 496,
"protein_name": "Fizzy-related protein homolog",
"gene_name": "FZR1",
"organism": "Human",
"refseq_name": "fizzy-related protein homolog isoform 3",
"refseq_ac": [
{
"id": "NP_001129669",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129669",
"type": "external"
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],
"gene_names_uniprotkb": "FZR1; CDH1; FYR; FZR; KIAA1242",
"gene_names_refseq": "CDC20C; CDH1; DEE109; FZR1; FZR2; FZR; HCDH1; HCDH",
"protein_names_uniprotkb": "Fizzy-related protein homolog; CDC20-like protein 1; Cdh1/Hct1 homolog; Fzr; hCDH1",
"protein_names_refseq": "CDC20 homolog 1; CDC20-like 1b; CDC20-like protein 1; cdh1/Hct1 homolog; fizzy-related protein homolog isoform 3; fizzy-related protein homolog; fizzy/cell division cycle 20 related 1",
"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 109 (Disease Ontology:DOID:0070378); disease of cellular proliferation (Disease Ontology:DOID:14566)",
"pathway": " (hsa:51343); (R-HSA-174084); (R-HSA-174113); (R-HSA-174178); (R-HSA-176407); (R-HSA-176408); (R-HSA-176417); (R-HSA-2559582); (R-HSA-68867); (R-HSA-69017); (R-HSA-69273); (R-HSA-69656); (R-HSA-8853884); (R-HSA-9687136); (R-HSA-983168)",
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"class_list": "",
"function": "N 6-methyladenosine Modification of FZR1 mRNA Promotes Gemcitabine Resistance in Pancreatic Cancer., [RefSeq, PubMed]; Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Target Identification and Mechanistic Characterization of Indole Terpenoid Mimics: Proper Spindle Microtubule Assembly Is Essential for Cdh1-Mediated Proteolysis of CENP-A., [RefSeq, PubMed]; The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity., [RefSeq, PubMed]",
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"reported_snv": 16,
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"biomarker_type": "",
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"glyco_site_count": 3,
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"secondary_ac_list": "O75869;Q86U66;Q96NW8;Q9UI96;Q9ULH8;Q9UM10;Q9UNQ1;Q9Y2T8",
"ec_number_list": [],
"go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0010997 anaphase-promoting complex binding;GO:1990757 ubiquitin ligase activator activity;GO:0097027 ubiquitin-protein transferase activator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0005680 anaphase-promoting complex",
"go_biological_process": "GO:0006281 DNA repair;GO:0008284 positive regulation of cell population proliferation;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:2000773 negative regulation of cellular senescence",
"synthesized_glycan_count": 0,
"hit_score": 24.9,
"record_id": "Q9UM11-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8IX05-1",
"uniprot_id": [
{
"id": "CD302_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IX05",
"type": "external"
}
],
"mass": 26183.0,
"length": 232,
"protein_name": "CD302 antigen",
"gene_name": "CD302",
"organism": "Human",
"refseq_name": "CD302 antigen isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001185692",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185692",
"type": "external"
}
],
"gene_names_uniprotkb": "CD302; CLEC13A; DCL1; KIAA0022",
"gene_names_refseq": "BIMLEC; CD302; CLEC13A; DCL-1; DCL1",
"protein_names_uniprotkb": "CD302 antigen; C-type lectin BIMLEC; C-type lectin domain family 13 member A; DEC205-associated C-type lectin 1; Type I transmembrane C-type lectin receptor DCL-1",
"protein_names_refseq": "C-type lectin domain family 13, member A; CD302 antigen isoform 2 precursor; CD302 antigen; DEC205-associated C-type lectin 1; type I transmembrane C-type lectin receptor DCL-1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9936)",
"pathway_count": 1,
"publication_count": 32,
"publication_id_list": "11237011;12824192;17947679;19317456;20237496;25576301;26154972;26725057;26992070;27316686;27600516;28904123;29242379;29557506;31154438;32157095;32387766;32938616;32983136;33091337;33592498;33968037;34171305;34185709;34357683;34509645;35251023;35297671;35297672;35580925;36010968;39894887",
"class_list": "glycogene",
"function": "CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]., [RefSeq]; DLC1 equilibrium unfolding is characterized at the amino acid level., [RefSeq, PubMed]; HDCL-1 is an unconventional lectin receptor that plays roles not only in endocytosis/phagocytosis but also in cell adhesion and migration, [RefSeq, PubMed]; Hodgkin's lymphoma cell lines express a fusion protein encoded by intergenically spliced mRNA for the multilectin receptor DEC-205 (CD205) and a novel C-type lectin receptor DCL-1, [RefSeq, PubMed]; Multifunctional C-type lectin receptor involved in endocytosis, phagocytosis and regulation of cell adhesion and migration (PubMed:17947679, PubMed:27316686). Plays a critical role in guiding dendritic cells to lymph nodes (PubMed:27316686). Also functions as a restriction factor for Hepatitis C virus (HCV) at the liver cell surface, likely by inhibiting a viral cell entry step (PubMed:35297672)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Particle Morphology of Medusavirus Inside and Outside the Cells Reveals a New Maturation Process of Giant Viruses., [RefSeq, PubMed]; The Human Liver-Expressed Lectin CD302 Restricts Hepatitis C Virus Infection., [RefSeq, PubMed]; These studies confirm a functional role for CD302 in myeloid dendritic cells migration., [RefSeq, PubMed]",
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"secondary_ac_list": "A8K5G4;B4E2T9;Q15009",
"ec_number_list": [],
"go_molecular_function": "GO:0030246 carbohydrate binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane;GO:0030175 filopodium;GO:0005902 microvillus",
"go_biological_process": "GO:0006909 phagocytosis",
"synthesized_glycan_count": 0,
"hit_score": 3.5,
"record_id": "Q8IX05-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q5JVX7-1",
"uniprot_id": [
{
"id": "CA141_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JVX7",
"type": "external"
}
],
"mass": 46135.0,
"length": 400,
"protein_name": "Uncharacterized protein C1orf141",
"gene_name": "C1orf141",
"organism": "Human",
"refseq_name": "uncharacterized protein C1orf141 isoform 1",
"refseq_ac": [
{
"id": "NP_001263280",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263280",
"type": "external"
}
],
"gene_names_uniprotkb": "C1orf141",
"gene_names_refseq": "C1orf141",
"protein_names_uniprotkb": "Uncharacterized protein C1orf141",
"protein_names_refseq": "uncharacterized protein C1orf141 isoform 1; uncharacterized protein C1orf141",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:400757)",
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"record_id": "Q5JVX7-1",
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},
{
"uniprot_canonical_ac": "P17931-1",
"uniprot_id": [
{
"id": "LEG3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17931",
"type": "external"
}
],
"mass": 26152.0,
"length": 250,
"protein_name": "Galectin-3",
"gene_name": "LGALS3",
"organism": "Human",
"refseq_name": "galectin-3 isoform 1",
"refseq_ac": [
{
"id": "NP_002297",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002297",
"type": "external"
}
],
"gene_names_uniprotkb": "LGALS3; MAC2",
"gene_names_refseq": "CBP35; GAL3; GALBP; GALIG; L31; LGALS2; LGALS3; MAC2",
"protein_names_uniprotkb": "Galectin-3; 35 kDa lectin; CBP 35; Carbohydrate-binding protein 35; GALBP; Gal-3; Galactose-specific lectin 3; Galactoside-binding protein; IgE-binding protein; L-31; Laminin-binding protein; Lectin L-29; Mac-2 antigen",
"protein_names_refseq": "35 kDa lectin; IgE-binding protein; MAC-2 antigen; advanced glycation end-product receptor 3; carbohydrate-binding protein 35; epididymis secretory sperm binding protein; galactose-specific lectin 3; galectin-3 isoform 1; laminin-binding protein; lectin L-29; lectin, galactoside-binding, soluble, 3",
"tax_id": 9606,
"disease": "COVID-19 (Disease Ontology:DOID:0080600); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); aortic valve stenosis (Disease Ontology:DOID:1712); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); liver cirrhosis (Disease Ontology:DOID:5082); congestive heart failure (Disease Ontology:DOID:6000); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:3958); (R-HSA-6798695); (R-HSA-879415); (R-HSA-8939246); (R-HSA-8941333)",
"pathway_count": 5,
"publication_count": 157,
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"class_list": "glycogene",
"function": "Decreased expression of galectin-3 in the epidermis of psoriasis patients., [RefSeq, PubMed]; Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Together with TRIM16, coordinates the recognition of membrane damage with mobilization of the core autophagy regulators ATG16L1 and BECN1 in response to damaged endomembranes., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Oxidative stress and galectin-3 levels during skin grafting after hand injury: gender differences. Publication Status: Online-Only, [RefSeq, PubMed]; The antimicrobial protein galectin-3 has direct fungicidal activity against fungal pathogens., [RefSeq, PubMed]; This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]., [RefSeq]",
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"biomarker_type": "prognostic; diagnostic; monitoring",
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"secondary_ac_list": "B2RC38;Q16005;Q6IBA7;Q96J47",
"ec_number_list": [],
"go_molecular_function": "GO:0019863 IgE binding;GO:0003723 RNA binding;GO:0042056 chemoattractant activity;GO:0043236 laminin binding;GO:0030246 carbohydrate binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm",
"go_biological_process": "GO:0070232 regulation of T cell apoptotic process;GO:0071677 positive regulation of mononuclear cell migration;GO:0045806 negative regulation of endocytosis;GO:0006397 mRNA processing;GO:0030855 epithelial cell differentiation",
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},
{
"uniprot_canonical_ac": "Q13503-1",
"uniprot_id": [
{
"id": "MED21_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13503",
"type": "external"
}
],
"mass": 15564.0,
"length": 144,
"protein_name": "Mediator of RNA polymerase II transcription subunit 21",
"gene_name": "MED21",
"organism": "Human",
"refseq_name": "mediator of RNA polymerase II transcription subunit 21 isoform 1",
"refseq_ac": [
{
"id": "NP_004255",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004255",
"type": "external"
}
],
"gene_names_uniprotkb": "MED21; SRB7; SURB7",
"gene_names_refseq": "MED21; SRB7; SURB7; hSrb7",
"protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 21; Mediator complex subunit 21; RNA polymerase II holoenzyme component SRB7; RNAPII complex component SRB7; hSrb7",
"protein_names_refseq": "RNA polymerase II holoenzyme component SRB7; RNAPII complex component SRB7; SRB7 suppressor of RNA polymerase B homolog; mediator of RNA polymerase II transcription subunit 21 isoform 1; mediator of RNA polymerase II transcription subunit 21",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9412); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)",
"pathway_count": 4,
"publication_count": 101,
"publication_id_list": "10024883;10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14976261;15067378;15130092;15175163;15249124;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;22090124;23239344;23481700;24196956;25576301;25854864;25880248;26768311;28832583;28904123;29242379;29331515;29786170;30524438;30779550;31530632;31844290;31937595;32157095;32387766;32488085;32938616;33141586;33298915;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36102648;36215666;36284347;37217939;7685352;7892212;8325954;8598913;8609996;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9660976;9734358;9748239;9836620;9933582",
"class_list": "",
"function": "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., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]",
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"secondary_ac_list": "B2R4I3;Q6IB05;Q92811",
"ec_number_list": [],
"go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0061630 ubiquitin protein ligase activity;GO:0003712 transcription coregulator activity;GO:0003899 DNA-directed RNA polymerase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000151 ubiquitin ligase complex;GO:0016592 mediator complex",
"go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0032968 positive regulation of transcription elongation by RNA polymerase II",
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"hit_score": 10.4,
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},
{
"uniprot_canonical_ac": "Q14004-1",
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{
"id": "CDK13_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14004",
"type": "external"
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],
"mass": 164923.0,
"length": 1512,
"protein_name": "Cyclin-dependent kinase 13",
"gene_name": "CDK13",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 13 isoform 1",
"refseq_ac": [
{
"id": "NP_003709",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003709",
"type": "external"
}
],
"gene_names_uniprotkb": "CDK13; CDC2L5; CDC2L; CHED; KIAA1791",
"gene_names_refseq": "CDC2L5; CDC2L; CDK13; CHDFIDD; CHED; hCDK13",
"protein_names_uniprotkb": "Cyclin-dependent kinase 13; 2.7.11.22; 2.7.11.23; CDC2-related protein kinase 5; Cell division cycle 2-like protein kinase 5; Cell division protein kinase 13; Cholinesterase-related cell division controller; hCDK13",
"protein_names_refseq": "CDC2-related protein kinase 5; cell division cycle 2-like protein kinase 5; cell division protein kinase 13; cholinesterase-related cell division controller; cyclin-dependent kinase 13 isoform 1",
"tax_id": 9606,
"disease": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (Disease Ontology:DOID:0112247); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); intellectual disability (Disease Ontology:DOID:1059); breast cancer (Disease Ontology:DOID:1612); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:8621); (R-HSA-6796648); (R-HSA-6798695)",
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"class_list": "",
"function": "CDK12/13 promote splicing of proximal introns by enhancing the interaction between RNA polymerase II and the splicing factor SF3B1., [RefSeq, PubMed]; CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA., [RefSeq, PubMed]; Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Data demonstrate that CDC2L5 is located in the nucleoplasm, where it directly interacts with the ASF/SF2-associated protein p32, a protein involved in splicing regulation., [RefSeq, PubMed]; Oncogenic CDK13 mutations impede nuclear RNA surveillance., [RefSeq, PubMed]; The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]., [RefSeq]",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck",
"go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030097 hemopoiesis;GO:0009966 regulation of signal transduction;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0000380 alternative mRNA splicing, via spliceosome",
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"protein_name": "Capping protein, Arp2/3 and myosin-I linker protein 2",
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"protein_names_uniprotkb": "Capping protein, Arp2/3 and myosin-I linker protein 2; Capping protein regulator and myosin 1 linker 2; F-actin-uncapping protein RLTPR; Leucine-rich repeat-containing protein 16C; RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein",
"protein_names_refseq": "F-actin-uncapping protein RLTPR; RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing; RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein; capping protein, Arp2/3 and myosin-I linker protein 2 isoform 1; capping protein, Arp2/3 and myosin-I linker protein 2; leucine rich repeat containing 16C; leucine-rich repeat-containing protein 16C",
"tax_id": 9606,
"disease": "immunodeficiency 58 (Disease Ontology:DOID:0111984)",
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"class_list": "",
"function": "A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26466680, PubMed:26578515). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26466680, PubMed:26578515). Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells (PubMed:27647348, PubMed:27647349, PubMed:28112205)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data suggest that CARMIL2 displays two localization patterns in cells; one coincides with vimentin intermediate filaments, and the other coincides with cell membrane at leading edge of migrating cells., [RefSeq, PubMed]; Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation., [RefSeq, PubMed]; Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency., [RefSeq, PubMed]; Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Publication Status: Online-Only, [RefSeq, PubMed]; On the basis of these results, we propose a model in which dynamic vimentin filaments target CARMIL2 to critical membrane-associated locations, where CARMIL2 regulates CP, and thus actin assembly, to create cell protrusions, [RefSeq, PubMed]; RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma., [RefSeq, PubMed]; This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]., [RefSeq]",
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{
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{
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"protein_name": "Metallophosphoesterase MPPED2",
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{
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],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:744)",
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"class_list": "",
"function": "Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension., [RefSeq, PubMed]; CTN2 (rs6655267) and MPPED2 (rs536007) are not associated with primary dentition caries. MPPED2 (rs11031093, G Allele) is marginally associated., [RefSeq, PubMed]; Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system., [UniProtKB, UniProtKB]; MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The structures of MPPED2 and two mutants show that the poor activity of MPPED2 is not only a consequence of the substitution of an active-site histidine residue by glycine but also due to binding of AMP or GMP to the active site., [RefSeq, PubMed]",
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{
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{
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],
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"protein_name": "Tyrosine-protein kinase ZAP-70",
"gene_name": "ZAP70",
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"refseq_name": "tyrosine-protein kinase ZAP-70 isoform 1",
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{
"id": "NP_001070",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070",
"type": "external"
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],
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"gene_names_refseq": "ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70; ZAP70",
"protein_names_uniprotkb": "Tyrosine-protein kinase ZAP-70; 2.7.10.2; 70 kDa zeta-chain associated protein; Syk-related tyrosine kinase",
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"tax_id": 9606,
"disease": "infantile onset multisystem autoimmune disease 2 (Disease Ontology:DOID:0061161); immunodeficiency 48 (Disease Ontology:DOID:0111943); severe combined immunodeficiency (Disease Ontology:DOID:627); rheumatoid arthritis (Disease Ontology:DOID:7148)",
"pathway": " (hsa:7535); (R-HSA-202430); (R-HSA-202433); (R-HSA-9013407); (R-HSA-9725371)",
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"function": "Decoding the deactivation mechanism of R192W mutation of ZAP-70 using molecular dynamics simulations and binding free energy calculations. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Normal B cells express ZAP70 in chronic lymphocytic leukemia: A link between autoimmunity and lymphoproliferation?, [RefSeq, PubMed]; This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Also contributes to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the phosphorylated TCR components CD3E and CD247/CD3Z through ITAM motif at the plasma membrane (PubMed:7509083). This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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{
"id": "NP_061983",
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"gene_names_refseq": "P1P373C6; ZKSCAN4; ZNF307; ZNF427; ZSCAN36",
"protein_names_uniprotkb": "Zinc finger protein with KRAB and SCAN domains 4; P373c6.1; Zinc finger protein 307; Zinc finger protein 427",
"protein_names_refseq": "p373c6.1 (novel C2H2 type zinc finger protein); zinc finger protein 307; zinc finger protein 427; zinc finger protein with KRAB and SCAN domains 4 isoform 1; zinc finger protein with KRAB and SCAN domains 4",
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{
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],
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"protein_name": "Cdc42 effector protein 5",
"gene_name": "CDC42EP5",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_659494",
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],
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"protein_names_refseq": "CDC42 effector protein (Rho GTPase binding) 5; binder of Rho GTPases 3; cdc42 effector protein 5",
"tax_id": 9606,
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"pathway": " (hsa:148170); (R-HSA-5687128); (R-HSA-9013148)",
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"class_list": "",
"function": "Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]., [RefSeq]; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity)., [UniProtKB]; Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling. Review article, [RefSeq, PubMed]",
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{
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{
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"protein_name": "Coiled-coil domain-containing protein 134",
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"refseq_name": "coiled-coil domain-containing protein 134 isoform 1 precursor",
"refseq_ac": [
{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_079097",
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],
"gene_names_uniprotkb": "CCDC134",
"gene_names_refseq": "CCDC134; OI22",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 134",
"protein_names_refseq": "coiled-coil domain-containing protein 134 isoform 1 precursor; coiled-coil domain-containing protein 134",
"tax_id": 9606,
"disease": "osteogenesis imperfecta (Disease Ontology:DOID:12347); osteogenesis imperfecta, IIA 22 (MONDO:MONDO:0030714)",
"pathway": " (hsa:79879)",
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"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;18087676;18477386;20068231;22644376;23070808;23584533;24715725;25125657;25813380;25892735;26154972;26992070;27397612;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29769354;30315122;30429286;30524438;30779550;31154438;31844290;32157095;32181939;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;34171305;34382738;35019224;35154160;35251023;35561310;35580925;36010968;36056852;36241641;36284347;36581221;38665916;38670073;39509507",
"class_list": "",
"function": "CCDC134 might act as a novel regulator of hADA2a, and plays roles in the PCAF complex via hADA2a to affect its acetyltransferase activity and UV-induced DNA damage repair., [RefSeq, PubMed]; CCDC134 promotes cell proliferation through the JAK3-STAT5 pathway., [RefSeq, PubMed]; Ccdc134 deficiency impairs cerebellar development and motor coordination., [RefSeq, PubMed]; MiRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134., [RefSeq, PubMed]; Molecular adapter required to prevent protein hyperglycosylation of HSP90B1: during translation, associates with nascent HSP90B1 and the STT3A catalytic component of the OST-A complex and tethers them to a specialized translocon that forms a microenvironment for HSP90B1 folding (PubMed:38670073, PubMed:39509507). In the CCDC134-containing translocon, STT3A associates with the SRT pseudosubstrate motif of HSP90B1, preventing access to facultative glycosylation sites until folding is completed, preventing hyperglycosylation and subsequent degradation of HSP90B1 (PubMed:39509507). In extracellular secreted form, promotes proliferation and activation of CD8(+) T-cells, suggesting a cytokine-like function (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808). May also localize in the nucleus: enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated histone acetyltransferase activity (PubMed:22644376). Has a critical role in the regulation of osteogenesis and bone development (PubMed:32181939)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The attenuated expression of CCDC134 promoted the activation of Erk1/2 and JNK/SAPK, but had no effect on p38 in gastric cancer., [RefSeq, PubMed]; These results clearly indicate that CCDC134 is a novel member of the secretory family and down-regulates the Raf-1/MEK/ERK and JNK/ SAPK pathways., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0016020 membrane",
"go_biological_process": "GO:0030278 regulation of ossification;GO:0010559 regulation of glycoprotein biosynthetic process;GO:0030177 positive regulation of Wnt signaling pathway;GO:0034126 positive regulation of MyD88-dependent toll-like receptor signaling pathway",
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},
{
"uniprot_canonical_ac": "P21730-1",
"uniprot_id": [
{
"id": "C5AR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P21730",
"type": "external"
}
],
"mass": 39336.0,
"length": 350,
"protein_name": "C5a anaphylatoxin chemotactic receptor 1",
"gene_name": "C5AR1",
"organism": "Human",
"refseq_name": "C5a anaphylatoxin chemotactic receptor 1",
"refseq_ac": [
{
"id": "NP_001727",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001727",
"type": "external"
}
],
"gene_names_uniprotkb": "C5AR1; C5AR; C5R1",
"gene_names_refseq": "C5AR1; C5AR; C5A; C5R1; CD88",
"protein_names_uniprotkb": "C5a anaphylatoxin chemotactic receptor 1; C5a anaphylatoxin chemotactic receptor; C5a-R; C5aR",
"protein_names_refseq": "C5a anaphylatoxin chemotactic receptor 1; C5a anaphylatoxin receptor; C5a ligand; C5a-R; complement component 5a receptor 1",
"tax_id": 9606,
"disease": "thrombosis (Disease Ontology:DOID:0060903); Alzheimer's disease (Disease Ontology:DOID:10652); adult respiratory distress syndrome (Disease Ontology:DOID:11394); neutropenia (Disease Ontology:DOID:1227); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); rhinitis (Disease Ontology:DOID:4483); lung disease (Disease Ontology:DOID:850); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:728); (R-HSA-375276); (R-HSA-418594); (R-HSA-6798695); (R-HSA-977606)",
"pathway_count": 5,
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"publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10508278;10531307;10604470;10636859;1067618;10854085;10899166;11007482;11237011;11322507;11342590;11385580;11457843;11562423;11683476;11694537;11773063;11939578;12055245;12120503;12427552;12464600;12540846;12719537;1280419;12835319;12956774;1314587;1317848;1325670;1337145;1346068;1386357;14463577;14550283;14573733;15139756;15153520;15539556;15542591;1567413;15947423;15951850;16079145;16192651;1655761;16634148;16923326;16999828;1710450;1710578;17145764;17182573;1719979;1722333;17505110;18127230;18434541;1847994;18577758;19251703;20058876;2007135;21706042;21788512;22802338;23446738;23487775;23650620;23690594;2420889;2465906;2466593;2481448;24906252;2534964;2649896;2748346;27496565;2834384;29300009;293688;293746;2956252;2971659;29867214;301546;30315122;30524438;3202875;32983136;3366244;34171305;35051231;3525564;35580925;36806352;37169960;37209686;37852260;38098230;38101498;38252818;38458648;3848661;3856870;4098172;6214588;6219696;6222381;6230668;6238120;6274691;6281660;6334079;6373251;6454142;6589611;6607952;670886;6906228;702059;7057924;7391570;7524088;7542572;7590751;7592910;7592911;760802;761607;7622471;7624359;7642584;7690834;7691959;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8182049;8185599;8201839;8248172;8294032;8345200;8373420;8376805;8381365;8383526;8383682;8395824;8406495;8440682;8463333;8495193;8503909;8615752;8666380;8692836;8702752;873923;8786315;8823230;9038722;9171878;9521323;9530155;9553099;9593744;9607765;9685625;9722565;978134;9792798;9832121;9851594",
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"function": "Blockade of C5a receptor unleashes tumor-associated macrophage antitumor response and enhances CXCL9-dependent CD8[+] T cell activity., [RefSeq, PubMed]; C5aR plus MEK inhibition durably targets the tumor milieu and reveals tumor cell phagocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Cell-intrinsic C5a synergizes with Dectin-1 in macrophages to mediate fungal killing., [RefSeq, PubMed]; Differential contributions of the C5b-9 and C5a/C5aR pathways to microvascular and macrovascular thrombosis in complement-mediated thrombotic microangiopathy patients., [RefSeq, PubMed]; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a, stimulating chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520, PubMed:1847994, PubMed:29300009, PubMed:36806352, PubMed:7622471, PubMed:8182049, PubMed:9553099). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:36806352, PubMed:37852260). C5AR1 is coupled to G(i)/G(o) (GNAI1 or GNAO1) G alpha proteins and mediates inhibition of adenylate cyclase (PubMed:36806352, PubMed:37852260). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:7622471, PubMed:8182049, PubMed:9553099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004878 complement component C5a receptor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0045177 apical part of cell;GO:0030667 secretory granule membrane",
"go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0038178 complement component C5a signaling pathway;GO:0001774 microglial cell activation;GO:0006935 chemotaxis;GO:0006954 inflammatory response",
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},
{
"uniprot_canonical_ac": "P22003-1",
"uniprot_id": [
{
"id": "BMP5_HUMAN",
"url": "https://www.uniprot.org/uniprot/P22003",
"type": "external"
}
],
"mass": 51737.0,
"length": 454,
"protein_name": "Bone morphogenetic protein 5",
"gene_name": "BMP5",
"organism": "Human",
"refseq_name": "bone morphogenetic protein 5 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001316683",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316683",
"type": "external"
}
],
"gene_names_uniprotkb": "BMP5",
"gene_names_refseq": "BMP5",
"protein_names_uniprotkb": "Bone morphogenetic protein 5; BMP-5",
"protein_names_refseq": "bone morphogenetic protein 5 isoform 2 precursor",
"tax_id": 9606,
"disease": "Meier-Gorlin syndrome (Disease Ontology:DOID:0060306); diabetes mellitus (Disease Ontology:DOID:9351); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:653)",
"pathway_count": 1,
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"publication_id_list": "11580864;19664994;20402566;2263636;23090970;24190977;29321139;29557506;30097509;30119170;30429286;30572883;32488085;32968094;33691108;35051231;35054776",
"class_list": "",
"function": "Detection of circulating BMP5 as a risk factor for Barrett's esophagus. Publication Status: Online-Only, [RefSeq, PubMed]; G9a Knockdown Suppresses Cancer Aggressiveness by Facilitating Smad Protein Phosphorylation through Increasing BMP5 Expression in Luminal A Type Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis (PubMed:11580864, PubMed:29321139). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:11580864). In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes (PubMed:11580864, PubMed:29321139). Can also signal through non-canonical pathway such as MAPK p38 signaling cascade to promote chondrogenic differentiation (PubMed:20402566). Promotes the expression of HAMP, this is repressed by its interaction with ERFE (PubMed:30097509)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Suggest a significant role of miR-32/BMP5 axis in colorectal cancer tumorigenesis., [RefSeq, PubMed]; The tumor suppressor role of BMP5 highlights its crucial role in CRC initiation and development. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]., [RefSeq]",
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"secondary_ac_list": "B4E0Y4;Q9H547;Q9NTM5",
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"go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0070700 BMP receptor binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0031982 vesicle",
"go_biological_process": "GO:0007507 heart development;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001501 skeletal system development",
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},
{
"uniprot_canonical_ac": "P22362-1",
"uniprot_id": [
{
"id": "CCL1_HUMAN",
"url": "https://www.uniprot.org/uniprot/P22362",
"type": "external"
}
],
"mass": 10992.0,
"length": 96,
"protein_name": "C-C motif chemokine 1",
"gene_name": "CCL1",
"organism": "Human",
"refseq_name": "C-C motif chemokine 1 precursor",
"refseq_ac": [
{
"id": "NP_002972",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002972",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL1; SCYA1",
"gene_names_refseq": "CCL1; I-309; P500; SCYA1; SISe; TCA3",
"protein_names_uniprotkb": "C-C motif chemokine 1; Small-inducible cytokine A1; T lymphocyte-secreted protein I-309",
"protein_names_refseq": "C-C motif chemokine 1 precursor; C-C motif chemokine 1; T lymphocyte-secreted protein I-309; chemokine (C-C motif) ligand 1; inflammatory cytokine I-309; small inducible cytokine A1 (I-309, homologous to mouse Tca-3)",
"tax_id": 9606,
"disease": "multiple sclerosis (Disease Ontology:DOID:2377); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); tuberculosis (Disease Ontology:DOID:399); rhinitis (Disease Ontology:DOID:4483)",
"pathway": " (hsa:6346); (R-HSA-380108); (R-HSA-418594)",
"pathway_count": 3,
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"publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;10821677;11007482;11060282;12120503;12149255;12554737;12884299;12949249;15067078;15340161;1557400;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2212659;2217207;2423119;2534964;2748346;2809212;2834384;2970963;3098319;32488085;3260265;36694223;37712633;38506205;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518",
"class_list": "",
"function": "CCL1 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8., [UniProtKB, PubMed]; Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced chemokine C-C motif ligand 1 expression may negatively regulate colorectal cancer progression at liver metastatic sites., [RefSeq, PubMed]; Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia., [RefSeq, PubMed]; This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration",
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},
{
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"id": "CD52_HUMAN",
"url": "https://www.uniprot.org/uniprot/P31358",
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}
],
"mass": 6614.0,
"length": 61,
"protein_name": "CAMPATH-1 antigen",
"gene_name": "CD52",
"organism": "Human",
"refseq_name": "CAMPATH-1 antigen precursor",
"refseq_ac": [
{
"id": "NP_001794",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001794",
"type": "external"
}
],
"gene_names_uniprotkb": "CD52; CDW52; HE5",
"gene_names_refseq": "CD52; CDW52; EDDM5; HE5",
"protein_names_uniprotkb": "CAMPATH-1 antigen; CDw52; Cambridge pathology 1 antigen; Epididymal secretory protein E5; He5; Human epididymis-specific protein 5",
"protein_names_refseq": "CAMPATH-1 antigen precursor; CD52 antigen (CAMPATH-1 antigen); CDW52 antigen (CAMPATH-1 antigen); HEL-S-171mP; cambridge pathology 1 antigen; epididymal secretory protein E5; epididymis secretory sperm binding protein Li 171mP; human epididymis-specific protein 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:1043); (R-HSA-163125)",
"pathway_count": 2,
"publication_count": 28,
"publication_id_list": "11072085;1711975;2443973;26154972;26992070;27893789;28228285;28834231;28904123;29242379;29493099;29557506;30315122;31154438;31507595;31844290;32357974;33091337;33298915;33658999;33705353;34185709;3422494;35580925;37314354;37975535;7688956;8418821",
"class_list": "",
"function": "Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia., [RefSeq, PubMed]; CD52 Is Elevated on B cells of SLE Patients and Regulates B Cell Function. Publication Status: Online-Only, [RefSeq, PubMed]; CD52 mRNA expression predicts prognosis and response to immune checkpoint blockade in melanoma. Review article, [RefSeq, PubMed]; High expression of CD52 in adipocytes: a potential therapeutic target for obesity with type 2 diabetes., [RefSeq, PubMed]; May play a role in carrying and orienting carbohydrate, as well as having a more specific role., [UniProtKB]",
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"reported_glycation": 0,
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"missing_score": 10000,
"biomarker_type": "",
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"binding_glycan_count": 0,
"secondary_ac_list": "Q5T138;Q9BW46",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0097225 sperm midpiece;GO:0098552 side of membrane",
"go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0045730 respiratory burst",
"synthesized_glycan_count": 0,
"hit_score": 2.9,
"record_id": "P31358-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000010010000.011.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P40259-1",
"uniprot_id": [
{
"id": "CD79B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P40259",
"type": "external"
}
],
"mass": 26048.0,
"length": 229,
"protein_name": "B-cell antigen receptor complex-associated protein beta chain",
"gene_name": "CD79B",
"organism": "Human",
"refseq_name": "B-cell antigen receptor complex-associated protein beta chain isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_000617",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000617",
"type": "external"
}
],
"gene_names_uniprotkb": "CD79B; B29; IGB",
"gene_names_refseq": "AGM6; B29; CD79B; IGB; Igbeta",
"protein_names_uniprotkb": "B-cell antigen receptor complex-associated protein beta chain; B-cell-specific glycoprotein B29; Ig-beta; Immunoglobulin-associated B29 protein",
"protein_names_refseq": "B-cell antigen receptor complex-associated protein beta chain isoform 1 precursor; B-cell antigen receptor complex-associated protein beta chain; B-cell-specific glycoprotein B29; CD79b antigen (immunoglobulin-associated beta); CD79b molecule, immunoglobulin-associated beta; Ig-beta; immunoglobulin-associated B29 protein",
"tax_id": 9606,
"disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); mantle cell lymphoma (Disease Ontology:DOID:0050746); splenic marginal zone lymphoma (Disease Ontology:DOID:0050750); follicular lymphoma (Disease Ontology:DOID:0050873); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); agammaglobulinemia 6 (Disease Ontology:DOID:0081138); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); central nervous system lymphoma (Disease Ontology:DOID:3234); Burkitt lymphoma (Disease Ontology:DOID:8584); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)",
"pathway": " (hsa:974); (R-HSA-5690714); (R-HSA-9679191); (R-HSA-983695)",
"pathway_count": 4,
"publication_count": 189,
"publication_id_list": "10051622;10087012;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11449366;11606584;11901194;11909947;11994425;12097390;12181444;12453414;12456653;12573241;1372019;1374290;1375264;1376928;15116427;15161916;15187135;1534761;1550550;15509800;1599430;16115318;16408005;16522641;16849466;16906149;1702903;1705565;17224452;17452328;17486119;17662961;17675462;18006696;18025150;18052078;18187424;18326500;18420269;18446792;18596693;18818202;18843204;18995841;19206206;19249086;19372136;2011584;20192804;20223979;20696394;21408196;21469132;21822214;21850230;22180443;22210847;22401777;22552008;22814904;2303036;2304550;23481700;23641311;23719902;23836650;24190977;24272870;24584101;24714562;24715725;24769851;25347427;25418920;25502872;25576301;25801024;26002965;26154972;26811146;26929215;26992070;27846572;27862975;28063628;28218747;28228285;28425720;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29945920;30115740;30201761;30315122;30410026;30524438;31048504;31154438;31530632;31844290;31937595;32157095;32265295;32295785;32350084;32357974;32502341;32897882;32983136;33141586;33298915;33633747;33691108;33912179;33936100;34078123;34357683;34932366;3500860;35154160;35561310;35580925;35981043;36182550;36426942;36478416;37938771;38630892;4589993;6335036;7514267;7524079;7528218;7538118;7561031;7592958;7618087;7643857;7687428;7687539;7688784;7691807;7706301;7913081;7927516;803528;8077654;8163536;8306975;8419481;8475064;8486355;8617796;8947047;9057631;9235916;9326643;9341187;9382888;9480991;9531288;9547345;9601638;9697839;9705962;9890995",
"class_list": "",
"function": "CD79B Y196 mutation is a potent predictive marker for favorable response to R-MPV in primary central nervous system lymphoma., [RefSeq, PubMed]; Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression., [RefSeq, PubMed]; Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation., [UniProtKB, PubMed, PubMed, PubMed]; The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; The Prognostic Significance of CD79B Mutation in Diffuse Large B-Cell Lymphoma: A Meta-analysis and Systematic Literature Review., [RefSeq, PubMed]",
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"secondary_ac_list": "Q53FS2;Q9BU06",
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"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0019815 B cell receptor complex;GO:0071755 IgM B cell receptor complex",
"go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0030183 B cell differentiation",
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},
{
"uniprot_canonical_ac": "P43235-1",
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{
"id": "CATK_HUMAN",
"url": "https://www.uniprot.org/uniprot/P43235",
"type": "external"
}
],
"mass": 36966.0,
"length": 329,
"protein_name": "Cathepsin K",
"gene_name": "CTSK",
"organism": "Human",
"refseq_name": "cathepsin K preproprotein",
"refseq_ac": [
{
"id": "NP_000387",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000387",
"type": "external"
}
],
"gene_names_uniprotkb": "CTSK; CTSO2; CTSO",
"gene_names_refseq": "CTS02; CTSK; CTSO1; CTSO2; CTSO; PKND; PYCD",
"protein_names_uniprotkb": "Cathepsin K; 3.4.22.38; Cathepsin O2; Cathepsin O; Cathepsin X",
"protein_names_refseq": "cathepsin K preproprotein; cathepsin O1; cathepsin O2; cathepsin X",
"tax_id": 9606,
"disease": "ABCD syndrome (Disease Ontology:DOID:0050600); pycnodysostosis (Disease Ontology:DOID:0080038); Waardenburg syndrome type 4A (Disease Ontology:DOID:0110953); sensorineural hearing loss (Disease Ontology:DOID:10003); Hirschsprung's disease (Disease Ontology:DOID:10487); otitis media (Disease Ontology:DOID:10754); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); intracranial aneurysm (Disease Ontology:DOID:10941); megacolon (Disease Ontology:DOID:11372); asthma (Disease Ontology:DOID:2841); myocardial infarction (Disease Ontology:DOID:5844); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); hepatopulmonary syndrome (Disease Ontology:DOID:900); Waardenburg syndrome (Disease Ontology:DOID:9258); type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:1513); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-1679131); (R-HSA-2132295); (R-HSA-8939242)",
"pathway_count": 7,
"publication_count": 250,
"publication_id_list": "10036229;10048321;10049780;10064083;10072072;10229672;10386589;10480952;10491211;10540230;10551873;10593899;10631941;10631952;10639150;10706100;10748235;10809722;10809954;10878663;10986281;11013208;11082042;11119712;11237011;11375993;11529500;11577169;11684289;11790530;11813165;11830519;11853874;11872628;11927537;12078484;12198549;12504904;12579531;12727852;12742663;12748383;12809493;12843408;1311314;1371271;1390635;14716310;14731593;1480033;14973287;15005656;15226270;15234972;15257288;15591058;15749704;15911768;15950618;15958533;16133547;16181339;16242130;16415873;1649600;16618111;16631740;16824007;16825197;16825321;16857668;16973841;1698775;1704217;1707285;17088321;17142755;17275357;17283181;17332331;17354228;17452530;17608959;1783204;18046453;18082565;18166152;18292509;18305481;18434311;18509083;18622425;18658137;18820679;18931679;19010778;19079358;19451267;1956401;19564404;19571574;19615748;19657146;19714641;19965672;2005102;20142769;20855885;20865800;21030783;21116285;2121367;21297635;21398612;21402738;21441454;21441952;21593211;2159879;21604257;21670566;2169257;2169335;21723253;2176865;21784848;21864727;2190094;21935455;22159414;22164301;22223641;22241472;22382088;2253219;2269296;22822386;23034403;23035980;2383557;23845380;2391366;2537292;2546891;2548603;2551898;2557753;25645385;25731711;27600516;27726376;27862975;2834383;2845110;29557506;29789417;3038863;3058116;31844290;32157095;3223920;32488085;35051231;35315254;35318648;35580925;36138018;36284347;36697252;37938323;38703204;4216367;6258630;6263256;6270089;6694361;7075587;7481823;7547873;7576232;7592972;7650016;7663522;7667286;7669817;7746327;7780967;7805878;7818555;7826345;7890645;7890717;7896811;7981201;8015608;8046351;8134367;8145819;8148318;8194591;8226919;8313912;8314771;8344253;8397411;8415765;8463259;8530478;8576151;8585423;8621565;8626565;8642258;8645182;8663255;8687433;8703060;8804434;8849454;8909537;8920930;8938428;8939989;8947036;8999957;9033587;9065415;9075930;9092507;9115292;9148753;9202021;9261109;9311912;9312039;9346290;9405598;9422744;9461298;9497313;9529353;9539769;9545226;9578462;9606180;9632662;9651395;9799232;9852107;9893980",
"class_list": "glycogene",
"function": "Cathepsin K deficiency prevented stress-related thrombosis in a mouse FeCl3 model. Publication Status: Online-Only, [RefSeq, PubMed]; Cathepsin K regulates the tumor growth and metastasis by IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in castration-resistant prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene., [RefSeq, PubMed]; Lung macrophages utilize unique cathepsin K-dependent phagosomal machinery to degrade intracellular collagen. Publication Status: Online-Only, [RefSeq, PubMed]; MTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy., [RefSeq, PubMed]; The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]., [RefSeq]; Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (PubMed:11082042)., [UniProtKB, PubMed]",
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{
"id": "3.4.24.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-",
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{
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{
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005518 collagen binding;GO:0043394 proteoglycan binding;GO:0001968 fibronectin binding;GO:0004197 cysteine-type endopeptidase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane",
"go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030574 collagen catabolic process;GO:0000423 mitophagy;GO:0051603 proteolysis involved in protein catabolic process",
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},
{
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],
"mass": 14562.0,
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"protein_name": "Putative uncharacterized protein encoded by LINC00303",
"gene_name": "LINC00303",
"organism": "Human",
"refseq_name": "",
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"gene_names_uniprotkb": "LINC00303; C1orf157; NCRNA00303",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00303",
"protein_names_refseq": "",
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},
{
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{
"id": "CAR16_HUMAN",
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"type": "external"
}
],
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"protein_name": "Caspase recruitment domain-containing protein 16",
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"organism": "Human",
"refseq_name": "caspase recruitment domain-containing protein 16 isoform 2",
"refseq_ac": [
{
"id": "NP_443121",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_443121",
"type": "external"
}
],
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"gene_names_refseq": "CARD16; COP1; COP; LLID-114769; PSEUDO-ICE",
"protein_names_uniprotkb": "Caspase recruitment domain-containing protein 16; CARD-only protein 1; Caspase recruitment domain-only protein 1; Caspase-1 inhibitor COP; Pseudo interleukin-1 beta converting enzyme; Pseudo-ICE; Pseudo-IL1B-converting enzyme",
"protein_names_refseq": "CARD only domain-containing protein 1; CARD only protein; CARD-only protein 1; caspase recruitment domain-containing protein 16 isoform 2; caspase recruitment domain-containing protein 16; caspase recruitment domain-only protein 1; caspase-1 dominant-negative inhibitor pseudo-ICE; caspase-1 inhibitor COP; pseudo interleukin-1 beta converting enzyme; pseudo interleukin-1beta converting enzyme; pseudo-IL1B-converting enzyme",
"tax_id": 9606,
"disease": "acute kidney failure (Disease Ontology:DOID:3021); myocardial infarction (Disease Ontology:DOID:5844)",
"pathway": " (hsa:114769)",
"pathway_count": 1,
"publication_count": 25,
"publication_id_list": "11237011;11432859;11536016;11821383;16354923;16920334;19913121;20628086;26521743;27846572;27920218;28218747;28904123;29242379;29437277;29632046;30315122;32157095;32502341;32938616;32983136;33123756;33912179;33936100;35051231",
"class_list": "",
"function": "Caspase inhibitor. Acts as a regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. Also induces NF-kappa-B activation during the pro-inflammatory cytokine response. Also able to inhibit CASP1-mediated neuronal cell death, TNF-, hypoxia-, UV-, and staurosporine-mediated cell death but not ER stress-mediated cell death. Acts by preventing activation of caspases CASP1 and CASP4, possibly by preventing the interaction between CASP1 and RIPK2., [UniProtKB, PubMed, PubMed, PubMed]; Caspase-1-mediated cell death is regulated, at least in part, by the balance of Rip2 and Cop; alterations of this balance may contribute to aberrant caspase-1-mediated pathogenesis in Huntington's disease., [RefSeq, PubMed]; Cop inhibition of cell death, at least to a certain extent, results from its interference with the activation of caspase-1 and caspase-4., [RefSeq, PubMed]; Expression of NOX4/p22(phox) as well as ROS production is enhanced by IL-1beta. On the other hand, the use of NOX4 inhibitors decreased IL-1beta-induced collagenase synthesis by chondrocytes., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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"go_molecular_function": "GO:0042802 identical protein binding;GO:0019900 kinase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0050700 CARD domain binding;GO:0089720 caspase binding",
"go_cellular_component": "GO:0032991 protein-containing complex;GO:0097179 protease inhibitor complex",
"go_biological_process": "GO:0006508 proteolysis;GO:0032691 negative regulation of interleukin-1 beta production;GO:0071222 cellular response to lipopolysaccharide;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0042981 regulation of apoptotic process",
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},
{
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{
"id": "CC038_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5JPI3",
"type": "external"
}
],
"mass": 37541.0,
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"protein_name": "Uncharacterized protein C3orf38",
"gene_name": "C3orf38",
"organism": "Human",
"refseq_name": "uncharacterized protein C3orf38",
"refseq_ac": [
{
"id": "NP_776185",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_776185",
"type": "external"
}
],
"gene_names_uniprotkb": "C3orf38",
"gene_names_refseq": "C3orf38",
"protein_names_uniprotkb": "Uncharacterized protein C3orf38",
"protein_names_refseq": "dense incisors; uncharacterized protein C3orf38",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:285237)",
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"publication_count": 39,
"publication_id_list": "11237011;17464193;20068231;22424782;23481700;24714562;25418920;25576301;26154972;26375851;26992070;28904123;29493099;29557506;30484775;31844290;32157095;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33968037;33981976;34019948;34211107;34932366;35051231;35580925;36010968;36215666;36241641;39894887",
"class_list": "",
"function": "May be involved in apoptosis regulation., [UniProtKB, PubMed]",
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},
{
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{
"id": "CBPZ_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q66K79",
"type": "external"
}
],
"mass": 73655.0,
"length": 652,
"protein_name": "Carboxypeptidase Z",
"gene_name": "CPZ",
"organism": "Human",
"refseq_name": "carboxypeptidase Z isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_001014447",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014447",
"type": "external"
}
],
"gene_names_uniprotkb": "CPZ",
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"protein_names_uniprotkb": "Carboxypeptidase Z; 3.4.17.-; CPZ",
"protein_names_refseq": "VEZT/CPZ fusion; carboxypeptidase Z isoform 1 precursor; epididymis secretory sperm binding protein; metallocarboxypeptidase Z",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8532)",
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"publication_count": 23,
"publication_id_list": "10080937;10671522;11237011;11766880;12417617;28545128;29557506;29653227;29789417;30429286;31154438;31844290;31848261;32161166;32350084;32502341;32938616;33141586;33217972;35051231;35494241;36215666;9099699",
"class_list": "",
"function": "CPZ rs3796725 and rs3796727 were not associated with neuroblastoma risk in Chinese children.., [RefSeq, PubMed]; Common variants within CPZ at 4p16 is associated with neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Specifically cleaves substrates and peptides with C-terminal basic amino acids, especially those containing C-terminal Arg residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Substrate Specificity and Structural Modeling of Human Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "O00520;Q96MX2",
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"go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix",
"go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0006518 peptide metabolic process;GO:0016055 Wnt signaling pathway",
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},
{
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"uniprot_id": [
{
"id": "CAVN1_HUMAN",
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],
"mass": 43476.0,
"length": 390,
"protein_name": "Caveolae-associated protein 1",
"gene_name": "CAVIN1",
"organism": "Human",
"refseq_name": "caveolae-associated protein 1 isoform 1",
"refseq_ac": [
{
"id": "NP_036364",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036364",
"type": "external"
}
],
"gene_names_uniprotkb": "CAVIN1; FKSG13; PTRF",
"gene_names_refseq": "CAVIN1; CAVIN; CGL4; FKSG13; PTRF; cavin-1",
"protein_names_uniprotkb": "Caveolae-associated protein 1; Cavin-1; Polymerase I and transcript release factor",
"protein_names_refseq": "RNA polymerase I and transcript release factor; TTF-I interacting peptide 12; caveolae-associated protein 1 isoform 1; congenital generalized lipodystrophy 4",
"tax_id": 9606,
"disease": "congenital generalized lipodystrophy type 4 (Disease Ontology:DOID:0111138); pulmonary hypertension (Disease Ontology:DOID:6432)",
"pathway": " (hsa:284119); (R-HSA-73863); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)",
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"class_list": "",
"function": "Caveolae of human adipocytes are proposed to function in targeting, relocation and proteolytic control of PTRF and other PEST-domain-containing signalling proteins, [RefSeq, PubMed]; Cavin1 activates the Wnt/beta-catenin pathway to influence the proliferation and migration of hepatocellular carcinoma., [RefSeq, PubMed]; Molecular and clinical characterization of PTRF in glioma via 1,022 samples. Publication Status: Online-Only, [RefSeq, PubMed]; Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma., [RefSeq, PubMed]; Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Regulation of cancer cell ferroptosis by PTRF/Cavin-1., [RefSeq, PubMed]; This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]., [RefSeq]",
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"secondary_ac_list": "B2RAW7;O00535;Q6GMY1;Q96H74;Q9BT85;Q9HAP4",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum",
"go_biological_process": "GO:0009303 rRNA transcription;GO:0009306 protein secretion;GO:2000147 positive regulation of cell motility;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription",
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{
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{
"id": "CCD62_HUMAN",
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"gene_name": "CCDC62",
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"refseq_name": "coiled-coil domain-containing protein 62",
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{
"id": "NP_958843",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_958843",
"type": "external"
}
],
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"protein_names_uniprotkb": "Coiled-coil domain-containing protein 62; Protein TSP-NY; Protein aaa",
"protein_names_refseq": "aaa-protein; cancer/testis antigen 109; coiled-coil domain-containing protein 60; coiled-coil domain-containing protein 62; testis-specific protein TSP-NY",
"tax_id": 9606,
"disease": "spermatogenic failure 67 (Disease Ontology:DOID:0070566)",
"pathway": " (hsa:84660)",
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"publication_id_list": "11237011;16959974;16964243;18563714;19126643;19165854;24312176;25818163;26768311;26992070;27035708;27269966;28339613;28832583;29632711;31985809;32938616;32983136;33981976;35051231;36010968;36215666;38253038",
"class_list": "",
"function": "ERAP75 functions as a novel coactivator that can modulate ER alpha function in the prostate stromal cells., [RefSeq, PubMed]; Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Also modulates progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR. Required for normal spermiogenesis. It probably plays a role in acrosome formation (By similarity)., [UniProtKB, PubMed, UniProtKB]; Our findings support the conclusion that the rs12817488 in CCDC62/HIP1R polymorphism may increase the risk of Parkinson's disease in the Chinese Han population., [RefSeq, PubMed]; Role of CCDC62/ERAP75 as a novel coactivator in prostate cancer cells that can modulate estrogen receptor beta transactivation and receptor function., [RefSeq, PubMed]; STK39 (rs2102808) and CCDC62/HIP1R (rs12817488) do not appear to influence PD risk. Publication Status: Online-Only, [RefSeq, PubMed]; Serological survey of 191 cancer patients with a range of different cancers by ELISA revealed antibodies to CCDC62-2 in 13 patients, including stomach cancer, [RefSeq, PubMed]; There is a relationship between rs12817488 and Parkinson's disease risk in Chinese population [meta-analysis] Publication Status: Online-Only, [RefSeq, PubMed]; This study shown CCDC62 genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism., [RefSeq, PubMed]",
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},
{
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{
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{
"id": "NP_001149946",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149946",
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},
{
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{
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],
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"protein_name": "Uncharacterized protein C1orf122",
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"refseq_name": "uncharacterized protein C1orf122 isoform 2",
"refseq_ac": [
{
"id": "NP_001136198",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136198",
"type": "external"
}
],
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"gene_names_refseq": "ALAESM; C1orf122",
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{
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],
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"protein_name": "RNA 5'-monophosphate methyltransferase",
"gene_name": "BCDIN3D",
"organism": "Human",
"refseq_name": "RNA 5'-monophosphate methyltransferase",
"refseq_ac": [
{
"id": "NP_859059",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_859059",
"type": "external"
}
],
"gene_names_uniprotkb": "BCDIN3D",
"gene_names_refseq": "BCDIN3D",
"protein_names_uniprotkb": "RNA 5'-monophosphate methyltransferase; 2.1.1.-; BCDIN3 domain-containing protein",
"protein_names_refseq": "BCDIN3 domain containing RNA methyltransfease; BCDIN3 domain-containing protein; RNA 5'-monophosphate methyltransferase; pre-miRNA 5'-monophosphate methyltransferase; probable methyltransferase BCDIN3D",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:144233); (R-HSA-203927)",
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"publication_id_list": "11201747;11452083;12411504;12411505;14508493;14631048;14681208;14730017;15284456;15364901;15372072;15525708;15531877;15574589;15973356;16142218;16271386;16357216;16424907;17057362;17099701;17452327;17531811;17932509;18178619;18728384;18782830;18842624;19401777;19966796;20112406;20215397;21726814;22106413;22163034;22844086;23063121;23063653;23251028;23481700;23511973;23531496;23624860;23661684;24366607;25326327;25418920;25568082;25793518;27259993;27846572;27920218;28119416;28218747;28228285;28904123;29437277;29632046;30127802;30315122;31329584;31530632;31844290;31919512;32265295;32938616;33157501;33298915;33664453;33981976",
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"function": "BCDIN3D RNA methyltransferase stimulates Aldolase C expression and glycolysis through let-7 microRNA in breast cancer cells., [RefSeq, PubMed]; BCDIN3D acts as a cytoplasmic tRNAHis-specific 5-methylphosphate capping enzyme. GeneRIF: Human BCDIN3D monomethylates the 5'-monophosphate of cytoplasmic tRNAHis in vitro. In BCDN3D-knockout cells, established byCRISPR/Cas9 editing, the methyl moiety at the 5'-monophosphate of cytoplasmic tRNAHis is lost, and the exogenous expression of BCDIN3D in the knockout cells restores the modification in cytoplasmic tRNAHis., [RefSeq, PubMed]; BCDIN3D depletion leads to lower pre-miR-145 and concomitantly increased mature miR-145 levels in breast cancer cells, which suppresses their tumorigenic phenotypes., [RefSeq, PubMed]; BCDIN3D might serve as an important prognostic factor for triple-negative breast cancer, [RefSeq, PubMed]; CDIN3D is a tRNAHis-specific 5'-monomethylphosphate capping enzyme that discriminates tRNAHis from other tRNA species, and the structural information presented in this study also provides the molecular basis for the development of drugs against breast cancers., [RefSeq, PubMed]; MiR-195-3p inhibits cell proliferation in cervical cancer by targeting BCDIN3D., [RefSeq, PubMed]; O-methyltransferase that specifically monomethylates 5'-monophosphate of cytoplasmic histidyl tRNA (tRNA(His)), acting as a capping enzyme by protecting tRNA(His) from cleavage by DICER1 (PubMed:28119416, PubMed:31329584, PubMed:31919512). Also able, with less efficiently, to methylate the 5' monophosphate of a subset of pre-miRNAs, acting as a negative regulator of miRNA processing (PubMed:23063121, PubMed:28119416). The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1 (PubMed:23063121). Was also reported to mediate dimethylation of pre-miR-145; however dimethylation cannot be reproduced by another group which observes a monomethylation of pre-miR-145 (PubMed:23063121, PubMed:28119416)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that tRNAHis interaction with BCDIN3D plays non-canonical roles, one of which is to regulate the generation of tRNAHis 3' fragments. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine binding domain and uses the methyl group donor, S-adenosylmethionine. This gene is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. The encoded protein is thought to promote the cellular invasion of breast cancer cells, by downregulating the expression of tumor suppressor miRNAs through the dimethylation of the 5-monophosphate of the corresponding precursor miRNAs. [provided by RefSeq, Apr 2017]., [RefSeq]",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0090486 small RNA 2'-O-methyltransferase activity;GO:0008175 tRNA methyltransferase activity;GO:0008171 O-methyltransferase activity;GO:0070883 pre-miRNA binding;GO:0008173 RNA methyltransferase activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0010586 miRNA metabolic process;GO:0031054 pre-miRNA processing;GO:0030488 tRNA methylation;GO:0001510 RNA methylation;GO:2000632 negative regulation of pre-miRNA processing",
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},
{
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{
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}
],
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"protein_name": "Cell division cycle protein 20 homolog B",
"gene_name": "CDC20B",
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{
"id": "NP_001139206",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139206",
"type": "external"
}
],
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"protein_names_refseq": "CDC20 cell division cycle 20 homolog B; CDC20-like protein; cell division cycle protein 20 homolog B isoform 2; cell division cycle protein 20 homolog B",
"tax_id": 9606,
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"pathway": " (hsa:166979)",
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"class_list": "",
"function": "CDC20B protein associates to deuterosomes and is required for centriole release and subsequent cilia production. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA hsa_circ_0008896 accelerates atherosclerosis by promoting the proliferation, migration and invasion of vascular smooth muscle cells via hsa-miR-633/CDC20B (cell division cycle 20B) axis., [RefSeq, PubMed]; Protein regulator of centriole-deuterosome disengagement and subsequently participates in the ciliogenesis in multiciliated cells (MCCs)., [UniProtKB, UniProtKB]",
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"go_biological_process": "GO:0031145 anaphase-promoting complex-dependent catabolic process;GO:1905786 positive regulation of anaphase-promoting complex-dependent catabolic process;GO:0097742 de novo centriole assembly",
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},
{
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"protein_name": "Coiled-coil domain-containing protein 71",
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"refseq_name": "coiled-coil domain-containing protein 71",
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{
"id": "NP_075054",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_075054",
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],
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"function": "A global collaboRAtive study of CIC-rearranged, BCOR::CCNB3-rearranged and other ultra-rare unclassified undifferentiated small round cell sarcomas (GRACefUl)., [RefSeq, PubMed]; A new fusion was observed between BCOR (encoding the BCL6 co-repressor) and CCNB3 (encoding the testis-specific cyclin B3) on the X chromosome. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy., [RefSeq, PubMed]; Cyclins are positive regulatory subunits of the cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I., [UniProtKB, PubMed]; Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations., [RefSeq, PubMed]; Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages. Publication Status: Online-Only, [RefSeq, PubMed]; Report two patients with clear cell sarcoma of the kidney showing BCOR-CCNB3 (where CCNB3 is cyclin B3) fusion, [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]",
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002978",
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"protein_names_uniprotkb": "C-C motif chemokine 17; CC chemokine TARC; Small-inducible cytokine A17; Thymus and activation-regulated chemokine",
"protein_names_refseq": "C-C motif chemokine 17 precursor; C-C motif chemokine 17; CC chemokine TARC; T cell-directed CC chemokine; chemokine (C-C motif) ligand 17; small inducible cytokine subfamily A (Cys-Cys), member 17; small-inducible cytokine A17; thymus and activation-regulated chemokine",
"tax_id": 9606,
"disease": "sarcoidosis (Disease Ontology:DOID:11335); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); cystic fibrosis (Disease Ontology:DOID:1485); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pneumonia (Disease Ontology:DOID:552); pulmonary eosinophilia (Disease Ontology:DOID:9498)",
"pathway": " (hsa:6361); (R-HSA-380108)",
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"function": "Association between CCL5, CCL11, and CCL17 polymorphisms and atopic dermatitis risk: A systematic review and meta-analysis., [RefSeq, PubMed]; Association of umbilical cord serum TARC/CCL17 with childhood allergies: A birth cohort study., [RefSeq, PubMed]; CCL17 and CCL22 chemokines are upregulated in human obesity and play a role in vascular dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; CCL17 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Chemokine, which displays chemotactic activity for T lymphocytes, preferentially Th2 cells, but not monocytes or granulocytes. Therefore plays an important role in a wide range of inflammatory and immunological processes (PubMed:8702936, PubMed:9169480). Acts by binding to CCR4 at T-cell surface (PubMed:10540332, PubMed:9169480). Mediates GM-CSF/CSF2-driven pain and inflammation (PubMed:27525438). In the brain, required to maintain the typical, highly branched morphology of hippocampal microglia under homeostatic conditions. May be important for the appropriate adaptation of microglial morphology and synaptic plasticity to acute lipopolysaccharide (LPS)-induced neuroinflammation (By similarity). Plays a role in wound healing, mainly by inducing fibroblast migration into the wound (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Serum thymus and activation-regulated chemokine is a surrogate marker for bullous pemphigoid disease activity., [RefSeq, PubMed]; Targeting Monocyte Derived CCL17 Attenuates Murine Crescentic Glomerulonephritis by Affecting Renal CCR4+ Regulatory T-Cell Recruitment., [RefSeq, PubMed]; This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"protein_name": "Coiled-coil domain-containing protein 34",
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"refseq_name": "coiled-coil domain-containing protein 34 isoform 1",
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"gene_names_refseq": "CCDC34; L15; NY-REN-41; RAMA3; SPGF76",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 34; Renal carcinoma antigen NY-REN-41",
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"tax_id": 9606,
"disease": "spermatogenic failure 76 (Disease Ontology:DOID:0070575); spermatogenic failure (Disease Ontology:DOID:0111910)",
"pathway": " (hsa:91057)",
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"publication_id_list": "10508479;11173847;15334068;20112406;23186163;25418920;25645385;26154972;26312564;26811146;26929215;26992070;27846572;28063628;28832583;28904123;29331515;29393594;29493099;29632046;29786170;30458457;30779550;30833945;31217245;31844290;32157095;32265295;32387766;32502341;32897882;33968037;33981976;34171305;34348960;34767735;34932366;35051231;39894887",
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"function": "CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration., [RefSeq, PubMed]; Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice., [RefSeq, PubMed]; Immunochemical staining data showed that CCDC34 expression was dramatically higher in CC than in adjacent normal tissues (71.6 vs. 20.9%; P<0.001). High expression of CCDC34 was strongly associated with histological grade (P=0.022), lymph node metastasis (P=0.044), and FIGO stage (P=0.002). Publication Status: Online-Only, [RefSeq, PubMed]; Involved in spermatogenesis. Has a probable role in anterograde intraflagellar transport which is essential for the formation of sperm flagella., [UniProtKB, PubMed]; RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma., [RefSeq, PubMed]",
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"publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11466621;12660814;12799299;12975309;14739293;15153610;15851033;16007225;16404722;17335815;18452278;21812858;21994943;23090970;23584533;24190977;25502872;25728678;25876044;28467828;29741879;31611695;31844290;32104500;32157095;32161166;32226543;32350084;32387766;32938616;32983136;33968037;33981976;34171305;34433824;35051231;35154160;35251023;35494241;35580925;36241641;36593286;36862682;36880252;37074911;37800334;38642507;39302247;8647901",
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"function": "Antibodies generated by subtractive immunization used to purify, identify and partially characterize SIMA135/CDCP1; properties indicate it is a multidomain cell surface antigen, highly expressed by certain cancer cells and normal and cancerous colon, [RefSeq, PubMed]; CDCP1 (CUB domain containing protein 1) is a potential urine-based biomarker in the diagnosis of low-grade urothelial carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CDCP1 expression is frequently increased in aggressive urothelial carcinoma and promotes urothelial tumor progression. Erratum:[Sci Rep. 2023 Feb 17;13(1):2838. doi: 10.1038/s41598-023-28942-0. PMID: 36801926] Publication Status: Online-Only, [RefSeq, PubMed]; CUB domain-containing protein 1 (CDCP1) is a substrate of Src family kinases and has been shown to regulate anoikis resistance, migration and matrix degradation during tumor invasion and metastasis in a tyrosine phosphorylation-dependent manner. Review. Review article, [RefSeq, PubMed]; May be involved in cell adhesion and cell matrix association. May play a role in the regulation of anchorage versus migration or proliferation versus differentiation via its phosphorylation. May be a novel marker for leukemia diagnosis and for immature hematopoietic stem cell subsets. Belongs to the tetraspanin web involved in tumor progression and metastasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Metastatic prostate cancer-derived extracellular vesicles facilitate osteoclastogenesis by transferring the CDCP1 protein., [RefSeq, PubMed]; Myocardial Recovery in Recent Onset Dilated Cardiomyopathy: Role of CDCP1 and Cardiac Fibrosis., [RefSeq, PubMed]; The CD318/CD6 axis limits type 1 diabetes islet autoantigen-specific human T cell activation., [RefSeq, PubMed]; This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]., [RefSeq]",
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"protein_name": "Cerebellin-4",
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542184",
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],
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{
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"protein_name": "Cerebral cavernous malformations 2 protein-like",
"gene_name": "CCM2L",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542192",
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],
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"protein_names_refseq": "CCM2 like scaffolding protein; CCM2-like; cerebral cavernous malformation 2-like; cerebral cavernous malformations 2 protein-like isoform 2; cerebral cavernous malformations 2 protein-like",
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"disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); visceral heterotaxy (Disease Ontology:DOID:0050545); primary ciliary dyskinesia 14 (Disease Ontology:DOID:0110598); hydrocephalus (Disease Ontology:DOID:10908)",
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"publication_id_list": "11237011;21131972;21131974;22693285;23255504;25186273;27120127;29557506;29632046;30379171;31650533;31772028;32387766;34674941;35051231;35795318;39056782",
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"function": "A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient., [RefSeq, PubMed]; Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia., [RefSeq, PubMed]; Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia., [RefSeq, PubMed]; Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex., [RefSeq, PubMed]; Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7. Publication Status: Online-Only, [RefSeq, PubMed]; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]., [RefSeq]",
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"secondary_ac_list": "B4E2H1",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005929 cilium;GO:0031514 motile cilium;GO:0005930 axoneme",
"go_biological_process": "GO:0030317 flagellated sperm motility;GO:0030324 lung development;GO:0001947 heart looping;GO:0044458 motile cilium assembly;GO:0061512 protein localization to cilium",
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},
{
"uniprot_canonical_ac": "O15467-1",
"uniprot_id": [
{
"id": "CCL16_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15467",
"type": "external"
}
],
"mass": 13600.0,
"length": 120,
"protein_name": "C-C motif chemokine 16",
"gene_name": "CCL16",
"organism": "Human",
"refseq_name": "C-C motif chemokine 16 precursor",
"refseq_ac": [
{
"id": "NP_004581",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004581",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL16; ILINCK; NCC4; SCYA16",
"gene_names_refseq": "CCL16; CKb12; HCC-4; ILINCK; LCC-1; LEC; LMC; Mtn-1; NCC-4; NCC4; SCYA16; SCYL4",
"protein_names_uniprotkb": "C-C motif chemokine 16; Chemokine CC-4; Chemokine LEC; HCC-4; IL-10-inducible chemokine; LCC-1; LMC; Liver-expressed chemokine; Lymphocyte and monocyte chemoattractant; MTN-1; Monotactin-1; NCC-4; Small-inducible cytokine A16",
"protein_names_refseq": "C-C motif chemokine 16 precursor; C-C motif chemokine 16; IL-10-inducible chemokine; chemokine (C-C motif) ligand 16; chemokine LEC; liver CC chemokine-1; liver-expressed chemokine; lymphocyte and monocyte chemoattractant; monotactin-1; new CC chemokine 4; small inducible cytokine subfamily A (Cys-Cys), member 16; small-inducible cytokine A16",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:6360); (R-HSA-380108); (R-HSA-418594)",
"pathway_count": 3,
"publication_count": 65,
"publication_id_list": "10213461;10229797;10235110;10640743;10671294;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;2534964;2748346;2834384;29557506;2970963;3098319;3260265;33500726;36358937;38274805;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9545580;9596672;9618518;9642106",
"class_list": "",
"function": "CCL16 maintains stem cell-like properties in breast cancer by activating CCR2/GSK3beta/beta-catenin/OCT4 axis. Erratum:[Theranostics. 2021 May 15;11(14):7128-7129. doi: 10.7150/thno.62534. PMID: 34093876] Publication Status: Online-Only, [RefSeq, PubMed]; Characterizing ligand-receptor interactions and unveiling the pro-tumorigenic role of CCL16-CCR1 axis in the microenvironment of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES., [UniProtKB]; Structure and Dynamics of Human Chemokine CCL16-Implications for Biological Activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0042056 chemoattractant activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide",
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"record_id": "O15467-1",
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},
{
"uniprot_canonical_ac": "P62955-1",
"uniprot_id": [
{
"id": "CCG7_HUMAN",
"url": "https://www.uniprot.org/uniprot/P62955",
"type": "external"
}
],
"mass": 31003.0,
"length": 275,
"protein_name": "Voltage-dependent calcium channel gamma-7 subunit",
"gene_name": "CACNG7",
"organism": "Human",
"refseq_name": "voltage-dependent calcium channel gamma-7 subunit isoform 1",
"refseq_ac": [
{
"id": "NP_114102",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_114102",
"type": "external"
}
],
"gene_names_uniprotkb": "CACNG7",
"gene_names_refseq": "CACNG7",
"protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-7 subunit; Neuronal voltage-gated calcium channel gamma-7 subunit; TARP gamma-7; Transmembrane AMPAR regulatory protein gamma-7",
"protein_names_refseq": "TARP gamma-7; calcium channel, voltage-dependent, gamma subunit 7; neuronal voltage-gated calcium channel gamma-7 subunit; transmembrane AMPAR regulatory protein gamma-7; voltage-dependent calcium channel gamma-7 subunit isoform 1; voltage-dependent calcium channel gamma-7 subunit",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:59284); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-9856532)",
"pathway_count": 4,
"publication_count": 29,
"publication_id_list": "10646604;11170751;11237011;11290418;11738816;11927536;1309946;14500339;15000524;15304325;17483156;18093912;18184654;19406745;21127204;21172611;21566136;21817159;22054663;22514276;23479567;23695678;23804213;24591645;25966690;27797339;33968037;8107964;9038151",
"class_list": "",
"function": "Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Shows specificity only for GRIA1 and GRIA2., [UniProtKB, UniProtKB]; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]., [RefSeq]",
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"secondary_ac_list": "Q52LL8;Q8VBX3;Q8WXS6;Q9BXT1",
"ec_number_list": [],
"go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity;GO:0016247 channel regulator activity;GO:0005262 calcium channel activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0032281 AMPA glutamate receptor complex",
"go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0006816 calcium ion transport;GO:0043488 regulation of mRNA stability;GO:0051968 positive regulation of synaptic transmission, glutamatergic;GO:0019226 transmission of nerve impulse",
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},
{
"uniprot_canonical_ac": "P15169-1",
"uniprot_id": [
{
"id": "CBPN_HUMAN",
"url": "https://www.uniprot.org/uniprot/P15169",
"type": "external"
}
],
"mass": 52286.0,
"length": 458,
"protein_name": "Carboxypeptidase N catalytic chain",
"gene_name": "CPN1",
"organism": "Human",
"refseq_name": "carboxypeptidase N catalytic chain precursor",
"refseq_ac": [
{
"id": "NP_001299",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299",
"type": "external"
}
],
"gene_names_uniprotkb": "CPN1; ACBP",
"gene_names_refseq": "CPN1; CPN; SCPN",
"protein_names_uniprotkb": "Carboxypeptidase N catalytic chain; 3.4.17.3; Anaphylatoxin inactivator; Arginine carboxypeptidase; CPN; Carboxypeptidase N polypeptide 1; Carboxypeptidase N small subunit; Kininase-1; Lysine carboxypeptidase; Plasma carboxypeptidase B; SCPN; Serum carboxypeptidase N",
"protein_names_refseq": "anaphylatoxin inactivator; arginine carboxypeptidase; carboxypeptidase K; carboxypeptidase N catalytic chain precursor; carboxypeptidase N catalytic chain; carboxypeptidase N catalytic subunit; carboxypeptidase N polypeptide 1 50 kD; carboxypeptidase N small subunit; carboxypeptidase N, polypeptide 1; kininase I; kininase-1; lysine carboxypeptidase; plasma carboxypeptidase B; serum carboxypeptidase N",
"tax_id": 9606,
"disease": "carboxypeptidase N deficiency (Disease Ontology:DOID:0111583)",
"pathway": " (hsa:1369); (R-HSA-977606)",
"pathway_count": 2,
"publication_count": 64,
"publication_id_list": "10531307;1067618;11237011;11694537;11939578;12055245;12560874;1386357;16079145;16192651;16999828;17157876;17182573;17505110;21052031;21788512;22802338;23000409;23487775;2420889;2465906;2466593;2481448;26992070;27600516;2912725;293688;293746;29557506;2956252;2971659;301546;32157095;32488085;33323464;3408501;34357683;35051231;36215666;3848661;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8267877;8345200;8495193;8786315;9038722;978134",
"class_list": "",
"function": "CPN binds to fibrinogen and is present in a fibrin clot prepared from plasma., [RefSeq, PubMed]; Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation., [UniProtKB]",
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"secondary_ac_list": "B1AP59",
"ec_number_list": [
{
"id": "3.4.17.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.3",
"type": "external"
},
{
"id": "3.4.17.20",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.20",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
"go_biological_process": "GO:0016485 protein processing;GO:0051384 response to glucocorticoid;GO:0006518 peptide metabolic process;GO:0030163 protein catabolic process;GO:0010815 bradykinin catabolic process",
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"record_id": "P15169-1",
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},
{
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{
"id": "S31H1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q68DN1",
"type": "external"
}
],
"mass": 224321.0,
"length": 1984,
"protein_name": "Spermatogenesis-associated protein 31H1",
"gene_name": "SPATA31H1",
"organism": "Human",
"refseq_name": "spermatogenesis-associated protein 31H1",
"refseq_ac": [
{
"id": "NP_115642",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_115642",
"type": "external"
}
],
"gene_names_uniprotkb": "SPATA31H1; C2orf16",
"gene_names_refseq": "C2orf16; SPATA31H1",
"protein_names_uniprotkb": "Spermatogenesis-associated protein 31H1",
"protein_names_refseq": "P-S-E-R-S-H-H-S repeats containing; spermatogenesis-associated protein 31H1; uncharacterized protein C2orf16",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84226)",
"pathway_count": 1,
"publication_count": 8,
"publication_id_list": "11230166;11237011;17081983;24715725;29242379;30379171;32357974;38253038",
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"secondary_ac_list": "B9EIQ4;Q53S01;Q8ND64;Q9H088",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome",
"go_biological_process": "",
"synthesized_glycan_count": 0,
"hit_score": 1.3,
"record_id": "Q68DN1-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "H3BNL1-1",
"uniprot_id": [
{
"id": "CMIP7_HUMAN",
"url": "https://www.uniprot.org/uniprot/H3BNL1",
"type": "external"
}
],
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"length": 204,
"protein_name": "Ciliary microtubule inner protein 7",
"gene_name": "CIMIP7",
"organism": "Human",
"refseq_name": "ciliary microtubule inner protein 7",
"refseq_ac": [
{
"id": "NP_001073997",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073997",
"type": "external"
}
],
"gene_names_uniprotkb": "CIMIP7; C3orf84",
"gene_names_refseq": "C3orf84; CIMIP7",
"protein_names_uniprotkb": "Ciliary microtubule inner protein 7",
"protein_names_refseq": "ciliary microtubule inner protein 7; uncharacterized protein C3orf84",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:646498)",
"pathway_count": 1,
"publication_count": 2,
"publication_id_list": "10.1101/2023.09.13.557529;11237011",
"class_list": "",
"function": "",
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"record_id": "H3BNL1-1",
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},
{
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{
"id": "CC188_HUMAN",
"url": "https://www.uniprot.org/uniprot/H7C350",
"type": "external"
}
],
"mass": 43548.0,
"length": 402,
"protein_name": "Coiled-coil domain-containing protein 188",
"gene_name": "CCDC188",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 188",
"refseq_ac": [
{
"id": "NP_001352821",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352821",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC188",
"gene_names_refseq": "CCDC188",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 188",
"protein_names_refseq": "coiled-coil domain-containing protein 188",
"tax_id": 9606,
"disease": "male infertility due to acephalic spermatozoa (Disease Ontology:DOID:0112311)",
"pathway": " (hsa:388849)",
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"publication_id_list": "35051231",
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"function": "",
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"go_cellular_component": "GO:0016020 membrane",
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"record_id": "H7C350-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P32248-1",
"uniprot_id": [
{
"id": "CCR7_HUMAN",
"url": "https://www.uniprot.org/uniprot/P32248",
"type": "external"
}
],
"mass": 42874.0,
"length": 378,
"protein_name": "C-C chemokine receptor type 7",
"gene_name": "CCR7",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 7 isoform b",
"refseq_ac": [
{
"id": "NP_001288643",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288643",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR7; CMKBR7; EBI1; EVI1",
"gene_names_refseq": "BLR2; CC-CKR-7; CCR-7; CCR7; CD197; CDw197; CMKBR7; EBI1",
"protein_names_uniprotkb": "C-C chemokine receptor type 7; BLR2; C-C CKR-7; CC-CKR-7; CCR-7; CDw197; EBI1; EBV-induced G protein-coupled receptor 1; Epstein-Barr virus-induced G protein-coupled receptor 1; MIP-3 beta receptor",
"protein_names_refseq": "Bukitt's lymphoma receptor 2; C-C chemokine receptor type 7 isoform b; C-C chemokine receptor type 7; CC chemokine receptor 7; EBV-induced G protein-coupled receptor 1; Epstein-Barr virus induced gene 1; Epstein-Barr virus-induced G-protein coupled receptor 1; MIP-3 beta receptor; chemokine (C-C motif) receptor 7; lymphocyte-specific G protein-coupled peptide receptor",
"tax_id": 9606,
"disease": "Sjogren's syndrome (Disease Ontology:DOID:12894); pulmonary sarcoidosis (Disease Ontology:DOID:13406); pneumonia (Disease Ontology:DOID:552)",
"pathway": " (hsa:1236); (R-HSA-380108); (R-HSA-418594)",
"pathway_count": 3,
"publication_count": 118,
"publication_id_list": "10229797;10581079;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;22645359;23328677;2423119;24715725;2534964;25418920;25502872;25548167;25892735;26024233;26154972;26375851;26811146;2748346;27846572;27920218;28218747;28228285;2834384;28467828;28649982;28832583;28855257;28871256;28904123;29242379;29314611;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2970963;29769354;30315122;30410026;30573663;30626607;30692994;3098319;31092671;31217245;31844290;31998317;32350084;32357974;32502341;3260265;32983136;33091337;33141586;33298915;33633747;33912179;33936100;34093574;34211107;34357683;34433824;34932366;35051231;35154160;35580925;38231043;39067836;39273598;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518",
"class_list": "",
"function": "C-C Chemokine Receptor 7 Promotes T-Cell Acute Lymphoblastic Leukemia Invasion of the Central Nervous System via beta2-Integrins. Publication Status: Online-Only, [RefSeq, PubMed]; C-C chemokine receptor type 7 (CCR7) regulates hepatic CD8 + T cell homeostasis and response to acute liver injury., [RefSeq, PubMed]; CCR7/DUSP1 signaling Axis mediates iCAF to regulates head and neck squamous cell carcinoma growth. Erratum:[Cell Signal. 2025 Jul;131:111768. doi: 10.1016/j.cellsig.2025.111768. PMID: 40185659], [RefSeq, PubMed]; Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions., [UniProtKB]; The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0035757 chemokine (C-C motif) ligand 19 binding;GO:0035758 chemokine (C-C motif) ligand 21 binding;GO:0038117 C-C motif chemokine 19 receptor activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0032651 regulation of interleukin-1 beta production;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway",
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"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O15234-1",
"uniprot_id": [
{
"id": "CASC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15234",
"type": "external"
}
],
"mass": 76278.0,
"length": 703,
"protein_name": "Protein CASC3",
"gene_name": "CASC3",
"organism": "Human",
"refseq_name": "protein CASC3",
"refseq_ac": [
{
"id": "NP_031385",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_031385",
"type": "external"
}
],
"gene_names_uniprotkb": "CASC3; MLN51",
"gene_names_refseq": "BTZ; CASC3; MLN51",
"protein_names_uniprotkb": "Protein CASC3; Btz; Cancer susceptibility candidate gene 3 protein; MLN 51; Metastatic lymph node gene 51 protein; Protein barentsz",
"protein_names_refseq": "MLN 51; barentsz; cancer susceptibility 3; cancer susceptibility candidate 3; cancer susceptibility candidate gene 3 protein; metastatic lymph node 51; metastatic lymph node gene 51 protein; protein CASC3; protein barentsz",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:22794); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957)",
"pathway_count": 6,
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"class_list": "",
"function": "Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions 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. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homomer., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A8K8R0",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0030425 dendrite",
"go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0006417 regulation of translation;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0000398 mRNA splicing, via spliceosome;GO:2000622 regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay",
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"hit_score": 24.7,
"record_id": "O15234-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O00626-1",
"uniprot_id": [
{
"id": "CCL22_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00626",
"type": "external"
}
],
"mass": 10625.0,
"length": 93,
"protein_name": "C-C motif chemokine 22",
"gene_name": "CCL22",
"organism": "Human",
"refseq_name": "C-C motif chemokine 22 precursor",
"refseq_ac": [
{
"id": "NP_002981",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002981",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL22; A-152E5.1; MDC; SCYA22",
"gene_names_refseq": "A-152E5.1; ABCD-1; CCL22; DC/B-CK; MDC; SCYA22; STCP-1",
"protein_names_uniprotkb": "C-C motif chemokine 22; CC chemokine STCP-1; MDC(1-69); Macrophage-derived chemokine; Small-inducible cytokine A22; Stimulated T-cell chemotactic protein 1",
"protein_names_refseq": "C-C motif chemokine 22 precursor; C-C motif chemokine 22; CC chemokine STCP-1; MDC(1-69); chemokine (C-C motif) ligand 22; macrophage-derived chemokine; small inducible cytokine A22; small inducible cytokine subfamily A (Cys-Cys), member 22; stimulated T cell chemotactic protein 1",
"tax_id": 9606,
"disease": "pleural tuberculosis (Disease Ontology:DOID:106); lung cancer (Disease Ontology:DOID:1324); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); pulmonary fibrosis (Disease Ontology:DOID:3770); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pneumonia (Disease Ontology:DOID:552); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398)",
"pathway": " (hsa:6367); (R-HSA-380108); (R-HSA-6783783); (R-HSA-6785807)",
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"function": "CCL17 and CCL22 chemokines are upregulated in human obesity and play a role in vascular dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; CCL22 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; LINC00472 suppresses non-small cell lung cancer progression via regulating miR-23a-3p/CCL22 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Macrophage-Derived Chemokine MDC/CCL22: An Ambiguous Finding in COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Macrophage-derived chemokine CCL22 establishes local LN-mediated adaptive thermogenesis and energy expenditure., [RefSeq, PubMed]; May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active., [UniProtKB]; This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]., [RefSeq]; Tumor-associated macrophage (TAM)-secreted CCL22 confers cisplatin resistance of esophageal squamous cell carcinoma (ESCC) cells via regulating the activity of diacylglycerol kinase alpha (DGKalpha)/NOX4 axis., [RefSeq, PubMed]",
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{
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"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 2 (Disease Ontology:DOID:0080467); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); intellectual disability (Disease Ontology:DOID:1059); Rett syndrome (Disease Ontology:DOID:1206)",
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"function": "CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description., [RefSeq, PubMed]; CDKL5 deficiency disorder and other infantile-onset genetic epilepsies., [RefSeq, PubMed]; CDKL5 mutations are associated with epilepsy, X-linked mental retardation and a clinical phenotype that overlaps Rett syndrome., [RefSeq, PubMed]; Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. Publication Status: Online-Only, [RefSeq, PubMed]; Growth patterns in individuals with CDKL5 deficiency disorder., [RefSeq, PubMed]; Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175)., [UniProtKB, PubMed, PubMed, PubMed]; Novel CDKL5 targets identified in human iPSC-derived neurons. Erratum:[Cell Mol Life Sci. 2024 Sep 10;81(1):392. doi: 10.1007/s00018-024-05421-x. PMID: 39254686] Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]",
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},
{
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"protein_name": "Beta-casein",
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"refseq_ac": [
{
"id": "NP_001289699",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289699",
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],
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"gene_names_refseq": "CASB; CSN2; PDC213",
"protein_names_uniprotkb": "Beta-casein",
"protein_names_refseq": "beta-casein isoform 2 precursor; beta-casein",
"tax_id": 9606,
"disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); Huntington's disease (Disease Ontology:DOID:12858); transitional cell carcinoma (Disease Ontology:DOID:2671); glioblastoma (Disease Ontology:DOID:3068)",
"pathway": " (hsa:1447); (R-HSA-1251985); (R-HSA-9927426)",
"pathway_count": 3,
"publication_count": 30,
"publication_id_list": "11679632;12807903;1369431;15023535;15534001;16061658;16912174;17018285;18653779;18847231;19047365;19596786;20068231;22092935;23230144;23481700;2387396;24308844;24364857;24829397;25087955;2717418;27611101;28093229;29786170;30936204;32387766;35051231;6715339;8112603",
"class_list": "",
"function": "Data suggest that neurogenesis in neuronal stem cells is differentially affected by human and bovine beta-casein-derived opioid peptides BCM7 and BCM9; such neurogenic changes are accompanied by changes in glutathione/glutathione disulfide ratio and in S-adenosylmethionine/S-adenosylhomocysteine ratio, indicative of changes in redox and methylation states (including DNA methylation)., [RefSeq, PubMed]; Exogenous 5-HT decreased beta-casein expression in MCF-12A human mammary epithelial cells and was responsible for inhibiting phosphorylation of STAT5, resulting in a decline in lactational function., [RefSeq, PubMed]; Important role in determination of the surface properties of the casein micelles., [UniProtKB]; The PDC213 peptide derived from CSN2 displays antimicrobial activity against S. aureus and Y. enterocolitica., [RefSeq, PubMed]; The acidic fragment of human Abeta (Abeta1-11) and a phosphorylated fragment of beta-Casein induced tau fibrillization in vitro., [RefSeq, PubMed]; This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]., [RefSeq]",
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{
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{
"id": "NP_001304867",
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],
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"protein_names_refseq": "coiled-coil domain-containing protein 192; long intergenic non-protein coding RNA 1183",
"tax_id": 9606,
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"pathway": " (hsa:728586)",
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{
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"mass": 30375.0,
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"protein_name": "Carbonyl reductase [NADPH] 1",
"gene_name": "CBR1",
"organism": "Human",
"refseq_name": "carbonyl reductase [NADPH] 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001273718",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273718",
"type": "external"
}
],
"gene_names_uniprotkb": "CBR1; CBR; CRN; SDR21C1",
"gene_names_refseq": "CBR1; CBR; PG-9-KR; SDR21C1; hCBR1",
"protein_names_uniprotkb": "Carbonyl reductase [NADPH] 1; 1.1.1.184; 1.1.1.189; 1.1.1.196; 1.1.1.197; 1.1.1.71; 15-hydroxyprostaglandin dehydrogenase [NADP(+)]; 20-beta-hydroxysteroid dehydrogenase; Alcohol dehydrogenase [NAD(P)+] CBR1; NADPH-dependent carbonyl reductase 1; PG-9-KR; Prostaglandin 9-ketoreductase; Prostaglandin-E(2) 9-reductase; Short chain dehydrogenase/reductase family 21C member 1",
"protein_names_refseq": "15-hydroxyprostaglandin dehydrogenase; 20-beta-hydroxysteroid dehydrogenase; NADPH-dependent carbonyl reductase 1; alcohol dehydrogenase [NAD(P)+] CBR1; carbonyl reductase (NADPH) 1; carbonyl reductase [NADPH] 1 isoform 2; carbonyl reductase [NADPH] 1; epididymis secretory sperm binding protein; prostaglandin 9-ketoreductase; prostaglandin-E(2) 9-reductase; short chain dehydrogenase/reductase family 21C member 1",
"tax_id": 9606,
"disease": "chronic kidney disease (Disease Ontology:DOID:784)",
"pathway": " (hsa:873); (R-HSA-2162123)",
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"publication_count": 85,
"publication_id_list": "10.1101/2023.09.13.557529;10377455;10622721;10922363;10966456;11237011;11297515;11465543;11672424;12627223;12835322;1380156;14979715;15047184;15115769;15799708;1597188;16408927;16475787;16828555;17344335;17449869;17641676;17912391;18006499;18083107;18449627;18493841;18682561;18826943;19000823;1921984;20036328;20068231;20667974;20950588;21467029;2182121;28510447;28878267;28904123;29242379;29557506;30429286;3141401;31844290;31848261;32157095;32161166;32350084;32387766;32767399;32938616;32983136;33214551;33592498;33912179;33964000;33968037;34019948;34357683;34509645;35138101;35580925;36206098;36241641;37905483;3862115;38665916;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8421682;8901870;9139685;9219313;9626023;9740676",
"class_list": "",
"function": "Carbonyl Reductase 1 Attenuates Ischemic Brain Injury by Reducing Oxidative Stress and Neuroinflammation., [RefSeq, PubMed]; LncRNA MYMLR promotes pituitary adenoma development by upregulating carbonyl reductase 1 via sponging miR-197-3p., [RefSeq, PubMed]; NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol (PubMed:15799708, PubMed:17344335, PubMed:17912391, PubMed:18449627, PubMed:18826943, PubMed:1921984, PubMed:7005231). Can convert prostaglandin E to prostaglandin F2-alpha (By similarity). Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione (PubMed:17344335, PubMed:18826943). In addition, participates in the glucocorticoid metabolism by catalyzing the NADPH-dependent cortisol/corticosterone into 20beta-dihydrocortisol (20b-DHF) or 20beta-corticosterone (20b-DHB), which are weak agonists of NR3C1 and NR3C2 in adipose tissue (PubMed:28878267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]., [RefSeq]; Transcription of carbonyl reductase 1 is regulated by DNA topoisomerase II beta., [RefSeq, PubMed]; [Altered expression of 15-hydroxyprostaglandin dehydrogenase in chronic rhinosinusitis with nasal polyps]., [RefSeq, PubMed]",
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{
"id": "1.1.1.184",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184",
"type": "external"
},
{
"id": "1.6.5.10",
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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},
{
"id": "1.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-",
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}
],
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"go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1903561 extracellular vesicle",
"go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0006805 xenobiotic metabolic process;GO:2000379 positive regulation of reactive oxygen species metabolic process;GO:0008211 glucocorticoid metabolic process;GO:0042373 vitamin K metabolic process",
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},
{
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{
"id": "CDN2C_HUMAN",
"url": "https://www.uniprot.org/uniprot/P42773",
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],
"mass": 18127.0,
"length": 168,
"protein_name": "Cyclin-dependent kinase 4 inhibitor C",
"gene_name": "CDKN2C",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 4 inhibitor C",
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{
"id": "NP_001253",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001253",
"type": "external"
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],
"gene_names_uniprotkb": "CDKN2C; CDKN6",
"gene_names_refseq": "CDKN2C; INK4C; p18-INK4C; p18",
"protein_names_uniprotkb": "Cyclin-dependent kinase 4 inhibitor C; Cyclin-dependent kinase 6 inhibitor; p18-INK4c; p18-INK6",
"protein_names_refseq": "CDK6 inhibitor p18; cyclin-dependent inhibitor; cyclin-dependent kinase 4 inhibitor C; cyclin-dependent kinase 6 inhibitor p18; cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4); p18-INK6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:1031); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559585); (R-HSA-69231)",
"pathway_count": 5,
"publication_count": 178,
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"class_list": "",
"function": "CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL., [RefSeq, PubMed]; Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB., [UniProtKB]; Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism., [RefSeq, PubMed]; P18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer., [RefSeq, PubMed]; The Oncogenic Role of Cyclin-Dependent Kinase Inhibitor 2C in Lower-Grade Glioma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q8TB83",
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"go_molecular_function": "GO:0019901 protein kinase binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030308 negative regulation of cell growth;GO:2000045 regulation of G1/S transition of mitotic cell cycle;GO:0048709 oligodendrocyte differentiation",
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},
{
"uniprot_canonical_ac": "P51671-1",
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{
"id": "CCL11_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51671",
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}
],
"mass": 10732.0,
"length": 97,
"protein_name": "Eotaxin",
"gene_name": "CCL11",
"organism": "Human",
"refseq_name": "eotaxin precursor",
"refseq_ac": [
{
"id": "NP_002977",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002977",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL11; SCYA11",
"gene_names_refseq": "CCL11; SCYA11",
"protein_names_uniprotkb": "Eotaxin; C-C motif chemokine 11; Eosinophil chemotactic protein; Small-inducible cytokine A11",
"protein_names_refseq": "chemokine (C-C motif) ligand 11; eosinophil chemotactic protein; eotaxin precursor; eotaxin-1; small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)",
"tax_id": 9606,
"disease": "nephrotic syndrome type 1 (Disease Ontology:DOID:0080390); pleurisy (Disease Ontology:DOID:10247); viral pneumonia (Disease Ontology:DOID:10533); interstitial nephritis (Disease Ontology:DOID:1063); allergic conjunctivitis (Disease Ontology:DOID:11204); mucopolysaccharidosis IV (Disease Ontology:DOID:12804); prostatitis (Disease Ontology:DOID:14654); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); bronchiolitis (Disease Ontology:DOID:2942); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); hyperglycemia (Disease Ontology:DOID:4195); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); ureteral obstruction (Disease Ontology:DOID:5199); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); cataract (Disease Ontology:DOID:83); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:6356); (R-HSA-380108); (R-HSA-6785807)",
"pathway_count": 3,
"publication_count": 148,
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"class_list": "",
"function": "Association between CCL5, CCL11, and CCL17 polymorphisms and atopic dermatitis risk: A systematic review and meta-analysis., [RefSeq, PubMed]; Autotaxin-lysolipid signaling suppresses a CCL11-eosinophil axis to promote pancreatic cancer progression., [RefSeq, PubMed]; Bidirectional Mendelian Randomisation Analysis Provides Evidence for the Causal Involvement of Dysregulation of CXCL9, CCL11 and CASP8 in the Pathogenesis of Ulcerative Colitis., [RefSeq, PubMed]; CCL11 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Chemokine that plays a central role in both allergic and non-allergic inflammatory reactions by inducing the migration of different leukocyte types including eosinophils, basophils, macrophages and dendritic cells (PubMed:8597956, PubMed:33846499). Exerts its effects primarily by binding to the CCR3 receptor (PubMed:8631813). Induces also chemotaxis of endothelial cells and promotes angiogenesis by activating the PI3K/Akt pathway (PubMed:28279120)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Eotaxin-1/CCL11 promotes cellular senescence in human-derived fibroblasts through pro-oxidant and pro-inflammatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Exploring CCL11 in breast cancer: unraveling its anticancer potential and immune modulatory effects involving the Akt-S6 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"secondary_ac_list": "P50877;Q92490;Q92491",
"ec_number_list": [],
"go_molecular_function": "GO:0046983 protein dimerization activity;GO:0048018 receptor ligand activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding;GO:0031728 CCR3 chemokine receptor binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
"go_biological_process": "GO:0006468 protein phosphorylation;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007015 actin filament organization;GO:0007155 cell adhesion",
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"hit_score": 15.2,
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},
{
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"uniprot_id": [
{
"id": "CCR3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51677",
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],
"mass": 41044.0,
"length": 355,
"protein_name": "C-C chemokine receptor type 3",
"gene_name": "CCR3",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 3 isoform 1",
"refseq_ac": [
{
"id": "NP_001828",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001828",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR3; CMKBR3",
"gene_names_refseq": "C C CKR3; CC-CKR-3; CCR3; CD193; CKR 3; CKR3; CMKBR3",
"protein_names_uniprotkb": "C-C chemokine receptor type 3; C C CKR3; C-C CKR-3; CC-CKR-3; CCR-3; CCR3; CKR 3; CKR3; Eosinophil eotaxin receptor",
"protein_names_refseq": "C-C CKR-3; C-C chemokine receptor type 3 isoform 1; C-C chemokine receptor type 3; CCR-3; b-chemokine receptor; chemokine (C-C motif) receptor 3; eosinophil CC chemokine receptor 3; eosinophil eotaxin receptor",
"tax_id": 9606,
"disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); cystic fibrosis (Disease Ontology:DOID:1485); urticaria (Disease Ontology:DOID:1555); hepatitis B (Disease Ontology:DOID:2043); ovary epithelial cancer (Disease Ontology:DOID:2152); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); rhinitis (Disease Ontology:DOID:4483); periapical granuloma (Disease Ontology:DOID:4617); myocardial infarction (Disease Ontology:DOID:5844); rheumatoid arthritis (Disease Ontology:DOID:7148); extrinsic allergic alveolitis (Disease Ontology:DOID:841); ulcerative colitis (Disease Ontology:DOID:8577); systemic lupus erythematosus (Disease Ontology:DOID:9074); visceral leishmaniasis (Disease Ontology:DOID:9146); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:1232); (R-HSA-380108); (R-HSA-418594)",
"pathway_count": 3,
"publication_count": 74,
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"class_list": "",
"function": "(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection., [UniProtKB, PubMed]; CCL24/CCR3 axis plays a central role in angiotensin II-induced heart failure by stimulating M2 macrophage polarization and fibroblast activation., [RefSeq, PubMed]; CCR3 blockage elicits polyploidization associated with the signatures of epithelial-mesenchymal transition in carcinoma cell lines., [RefSeq, PubMed]; CD193 (CCR3) expression by B cells correlates with reduced IgE production in paediatric schistosomiasis., [RefSeq, PubMed]; Critically-ill COVID-19 susceptibility gene CCR3 shows natural selection in sub-Saharan Africans., [RefSeq, PubMed]; G protein-coupled receptor (GPCR) that plays a key role in the immune system by regulating the migration and activation of white blood cells in response to chemokines (PubMed:28994588). Selectively interacts with eosinophil-attracting chemokines such as eotaxin/CCL11, eotaxin-2/CCL24 and eotaxin-3/CCL26 (PubMed:7622448, PubMed:8642344, PubMed:8676064). Ligand binding triggers intracellular signaling that leads to chemotaxis of immune cells. Mechanistically, signals through GNA14 or GNA16 to induce stimulation of phospholipase Cbeta/PLCB2 and subsequently chemotaxis (PubMed:18406577). Alternatively, transduces signal via GNAI1 resulting in elevated intracellular calcium levels and activation of the PI3K/AKT pathway (PubMed:8676064, PubMed:35570218). May also act as a possible functional receptor for NARS1 (PubMed:30171954)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]., [RefSeq]",
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"secondary_ac_list": "B3KVQ1;F5GWL6;Q15748;Q2YDB9;Q86WD2;Q8TDP6;Q9ULY8",
"ec_number_list": [],
"go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007204 positive regulation of cytosolic calcium ion concentration",
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},
{
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{
"id": "CCR4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51679",
"type": "external"
}
],
"mass": 41403.0,
"length": 360,
"protein_name": "C-C chemokine receptor type 4",
"gene_name": "CCR4",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 4",
"refseq_ac": [
{
"id": "NP_005499",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005499",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR4; CMKBR4",
"gene_names_refseq": "CC-CKR-4; CCR4; CD194; CKR4; CMKBR4; ChemR13; HGCN:14099; K5-5",
"protein_names_uniprotkb": "C-C chemokine receptor type 4; C-C CKR-4; CC-CKR-4; CCR-4; CCR4; K5-5",
"protein_names_refseq": "C-C CKR-4; C-C chemokine receptor type 4; CCR-4; chemokine (C-C motif) receptor 4; chemokine (C-C) receptor 4",
"tax_id": 9606,
"disease": "pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); pulmonary fibrosis (Disease Ontology:DOID:3770); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398)",
"pathway": " (hsa:1233); (R-HSA-380108); (R-HSA-418594)",
"pathway_count": 3,
"publication_count": 81,
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"class_list": "",
"function": "Blockade of CCR4 breaks immune tolerance in chronic hepatitis B patients by modulating regulatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; CCR4-NOT differentially controls host versus virus poly(a)-tail length and regulates HCMV infection., [RefSeq, PubMed]; Contributions of Ccr4 and Gcn2 to the Translational Response of C. neoformans to Host-Relevant Stressors and Integrated Stress Response Induction., [RefSeq, PubMed]; High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The CCL2-CCR4 axis promotes Regulatory T cell trafficking to canine glioma tissues., [RefSeq, PubMed]; The human CCR4 gene is localized at Chr 3p24., [RefSeq, PubMed]; The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "Q9ULY6;Q9ULY7",
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"go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling",
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},
{
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{
"id": "CCR5_HUMAN",
"url": "https://www.uniprot.org/uniprot/P51681",
"type": "external"
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],
"mass": 40524.0,
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"protein_name": "C-C chemokine receptor type 5",
"gene_name": "CCR5",
"organism": "Human",
"refseq_name": "C-C chemokine receptor type 5",
"refseq_ac": [
{
"id": "NP_000570",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000570",
"type": "external"
}
],
"gene_names_uniprotkb": "CCR5; CMKBR5",
"gene_names_refseq": "CC-CKR-5; CCCKR5; CCR-5; CCR5; CD195; CKR-5; CKR5; CMKBR5; IDDM22",
"protein_names_uniprotkb": "C-C chemokine receptor type 5; C-C CKR-5; CC-CKR-5; CCR-5; CCR5; CHEMR13; HIV-1 fusion coreceptor",
"protein_names_refseq": "C-C chemokine receptor type 5; C-C motif chemokine receptor 5 A159A; HIV-1 fusion coreceptor; chemokine (C-C motif) receptor 5; chemokine receptor CCR5; chemokine recptor CCR5 Delta32; chemr13; mutant C-C motif chemokine receptor",
"tax_id": 9606,
"disease": "Coronavirus infectious disease (Disease Ontology:DOID:0080599); type 1 diabetes mellitus 22 (Disease Ontology:DOID:0110759); dry eye syndrome (Disease Ontology:DOID:10140); berylliosis (Disease Ontology:DOID:10322); pleural tuberculosis (Disease Ontology:DOID:106); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); sarcoidosis (Disease Ontology:DOID:11335); optic neuritis (Disease Ontology:DOID:1210); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); posterior uveitis (Disease Ontology:DOID:12574); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); Sjogren's syndrome (Disease Ontology:DOID:12894); keratoconjunctivitis sicca (Disease Ontology:DOID:12895); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); pulmonary sarcoidosis (Disease Ontology:DOID:13406); anterior uveitis (Disease Ontology:DOID:1407); urticaria (Disease Ontology:DOID:1555); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); status epilepticus (Disease Ontology:DOID:1824); hepatitis C (Disease Ontology:DOID:1883); fallopian tube disease (Disease Ontology:DOID:1962); hepatitis B (Disease Ontology:DOID:2043); brain ischemia (Disease Ontology:DOID:2316); West Nile fever (Disease Ontology:DOID:2366); multiple sclerosis (Disease Ontology:DOID:2377); orchitis (Disease Ontology:DOID:2518); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); allergic contact dermatitis (Disease Ontology:DOID:3042); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gallbladder cancer (Disease Ontology:DOID:3121); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); plague (Disease Ontology:DOID:3482); pulmonary fibrosis (Disease Ontology:DOID:3770); ovarian carcinoma (Disease Ontology:DOID:4001); syphilis (Disease Ontology:DOID:4166); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); psoriasis (Disease Ontology:DOID:8893); leishmaniasis (Disease Ontology:DOID:9065); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); susceptibility to HIV infection (MONDO:MONDO:0004951); West Nile virus, susceptibility to (MONDO:MONDO:0012482)",
"pathway": " (hsa:1234); (R-HSA-173107); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)",
"pathway_count": 5,
"publication_count": 193,
"publication_id_list": "10085131;10089882;10092818;10229797;10383387;10413516;10415057;10433356;10497202;10504731;10640743;10706668;10725696;10725697;10781587;10917742;11007482;11038187;11060282;11323418;11369664;11448957;11591141;11733580;11926830;12120503;12149255;12403770;12496074;12554737;12554859;12626585;12773651;12832402;12884299;1438243;14517611;1460289;15067078;15504864;15757671;15919823;15951850;16107333;16144840;16284180;1629954;16418398;16634148;16923326;16982608;17092330;17417600;1744577;1840701;18434541;18577758;1891716;19073967;1940369;1940799;20002784;20145033;2078213;21148810;21763489;2191297;2217207;2247146;22496149;2364015;24030490;2423119;2428879;24405750;2441877;24743777;25167769;2534964;2541505;2748346;2788443;2834384;2846352;29283386;2970963;29924367;29936828;3001934;30484775;30713770;3098319;31844290;32357974;3260265;32983136;33043033;35580925;3629244;38507500;38719543;38770825;39236430;6083454;6096719;7510216;7512027;7512451;7516408;7538176;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687306;7687627;7745678;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8076606;8102388;8120391;8163946;8186324;8301137;8373393;8383238;8406495;8474172;8500173;8537680;8612573;8639485;8649511;8649512;8658171;8662928;8663314;8674119;8699119;8734788;8742066;8751444;8756719;8849694;8871669;8897595;8906796;8910398;8921438;8946277;9013939;9024663;9094670;9108481;9164944;9166405;9166430;9169459;9207005;9207783;9276730;9287217;9311827;9312047;9343222;9354687;9359654;9388201;9390561;9399903;9449724;9463416;9499113;9546217;9550426;9573233;9618518;9632396;9641677;9721247;9794440;9836587;9918218",
"class_list": "",
"function": "(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) of human immunodeficiency virus-1/HIV-1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CCL4/CCR5 regulates chondrocyte biology and OA progression., [RefSeq, PubMed]; CCR5 and CCL5 in metastatic colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; JAK/STAT signaling pathway affects CCR5 expression in human CD4[+] T cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Participates in T-lymphocyte migration to the infection site by acting as a chemotactic receptor (PubMed:30713770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Studies indicate that chemokine receptor 5 Delta32/W gene polymorphism was not associated with lupus nephritis (LN) risk and might be no a significant genetic molecular marker to predict the systemic lupus erythematosus (SLE) patients developing into LN., [RefSeq, PubMed]; The EBI2 receptor is coexpressed with CCR5 in CD4 + T cells and boosts HIV-1 R5 replication., [RefSeq, PubMed]; This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]",
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"reported_mutagensis": 22,
"reported_glycation": 0,
"reported_snv": 7,
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"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 55,
"glyco_site_count": 2,
"binding_glycan_count": 0,
"secondary_ac_list": "O14692;O14693;O14695;O14696;O14697;O14698;O14699;O14700;O14701;O14702;O14703;O14704;O14705;O14706;O14707;O14708;O15538;Q9UPA4",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0004950 chemokine receptor activity;GO:0015026 coreceptor activity;GO:0016493 C-C chemokine receptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway",
"synthesized_glycan_count": 0,
"hit_score": 19.6,
"record_id": "P51681-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P53701-1",
"uniprot_id": [
{
"id": "CCHL_HUMAN",
"url": "https://www.uniprot.org/uniprot/P53701",
"type": "external"
}
],
"mass": 30602.0,
"length": 268,
"protein_name": "Holocytochrome c-type synthase",
"gene_name": "HCCS",
"organism": "Human",
"refseq_name": "holocytochrome c-type synthase",
"refseq_ac": [
{
"id": "NP_001116080",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116080",
"type": "external"
}
],
"gene_names_uniprotkb": "HCCS; CCHL",
"gene_names_refseq": "CCHL; HCCS; LSDMCA1; MCOPS7; MLS",
"protein_names_uniprotkb": "Holocytochrome c-type synthase; 4.4.1.17; Cytochrome c-type heme lyase",
"protein_names_refseq": "cytochrome c heme-lyase; cytochrome c-type heme lyase; holocytochrome c-type synthase; holocytochrome-c synthetase; microphthalamia with linear skin defects; microphthalmia with linear skin defects",
"tax_id": 9606,
"disease": "linear skin defects with multiple congenital anomalies 1 (Disease Ontology:DOID:0111808); MLS syndrome (Disease Ontology:DOID:0111875); microphthalmia (Disease Ontology:DOID:10629)",
"pathway": " (hsa:3052); (R-HSA-611105)",
"pathway_count": 2,
"publication_count": 51,
"publication_id_list": "10327278;11695836;12231006;12837546;1327877;14741580;15250827;16230336;17033964;186667;23150584;23270816;23301498;23481700;23564345;23747254;239860;25255805;25564869;25576301;25807930;25880248;26992070;27920218;28218747;28510447;28832583;28855257;29242379;29351928;29437277;29632046;30410026;30429286;31217245;31844290;32157095;32265295;32357974;32488085;32897882;32938616;33968037;33981976;34171305;35051231;35243551;4288886;8661044;9674913;9878551",
"class_list": "",
"function": "Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome., [UniProtKB, PubMed]; The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta., [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]",
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"secondary_ac_list": "B3KUS1;Q502X8",
"ec_number_list": [
{
"id": "4.4.1.17",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.17",
"type": "external"
}
],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0004408 holocytochrome-c synthase activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol;GO:0016020 membrane",
"go_biological_process": "GO:0009887 animal organ morphogenesis;GO:0022904 respiratory electron transport chain;GO:0018063 cytochrome c-heme linkage",
"synthesized_glycan_count": 0,
"hit_score": 5.5,
"record_id": "P53701-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P55774-1",
"uniprot_id": [
{
"id": "CCL18_HUMAN",
"url": "https://www.uniprot.org/uniprot/P55774",
"type": "external"
}
],
"mass": 9849.0,
"length": 89,
"protein_name": "C-C motif chemokine 18",
"gene_name": "CCL18",
"organism": "Human",
"refseq_name": "C-C motif chemokine 18 precursor",
"refseq_ac": [
{
"id": "NP_002979",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002979",
"type": "external"
}
],
"gene_names_uniprotkb": "CCL18; AMAC1; DCCK1; MIP4; PARC; SCYA18",
"gene_names_refseq": "AMAC-1; AMAC1; CCL18; CKb7; DC-CK1; DCCK1; MIP-4; PARC; SCYA18",
"protein_names_uniprotkb": "C-C motif chemokine 18; AMAC-1; Alternative macrophage activation-associated CC chemokine 1; CC chemokine PARC; DC-CK1; Dendritic cell chemokine 1; MIP-4; Macrophage inflammatory protein 4; Pulmonary and activation-regulated chemokine; Small-inducible cytokine A18",
"protein_names_refseq": "C-C motif chemokine 18 precursor; C-C motif chemokine 18; CC chemokine PARC; CC chemokine ligand 18; alternative macrophage activation-associated CC chemokine 1; chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated); chemokine (C-C), dendritic; dendritic cell chemokine 1; macrophage inflammatory protein 4; pulmonary and activation-regulated chemokine; small inducible cytokine A18; small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated",
"tax_id": 9606,
"disease": "renal fibrosis (Disease Ontology:DOID:0050855); nephritis (Disease Ontology:DOID:10952); Chagas disease (Disease Ontology:DOID:12140); crescentic glomerulonephritis (Disease Ontology:DOID:13139); anterior uveitis (Disease Ontology:DOID:1407); status epilepticus (Disease Ontology:DOID:1824); colon cancer (Disease Ontology:DOID:219)",
"pathway": " (hsa:6362)",
"pathway_count": 1,
"publication_count": 30,
"publication_id_list": "10049593;10087196;11745396;11978786;12949249;19054851;23742785;24029068;27397612;27452731;27726376;29242379;29557506;31154438;32157095;32162841;32983136;33043033;33630763;35051231;35580925;36967081;37046242;38334630;38807599;39259753;9129202;9192897;9233607;9570561",
"class_list": "",
"function": "Adipose tissue specific CCL18 associates with cardiometabolic diseases in non-obese individuals implicating CD4[+] T cells. Erratum:[Cardiovasc Diabetol. 2023 Aug 30;22(1):229. doi: 10.1186/s12933-023-01961-x. PMID: 37649001] Publication Status: Online-Only, [RefSeq, PubMed]; CCL18 aggravates atherosclerosis by inducing CCR6-dependent T-cell influx and polarization. Publication Status: Online-Only, [RefSeq, PubMed]; CCL18 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses., [UniProtKB, PubMed, PubMed]; Identification and validation of a CCL18-related signature for prediction of overall survival in patients with uveal melanoma., [RefSeq, PubMed]; Pro-Fibrotic Effects of CCL18 on Human Lung Fibroblasts Are Mediated via CCR6. Publication Status: Online-Only, [RefSeq, PubMed]; The chemokine receptor CCR8 is not a high-affinity receptor for the human chemokine CCL18. Publication Status: Online-Only, [RefSeq, PubMed]; This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]., [RefSeq]",
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"secondary_ac_list": "B5BUM2;Q53X71",
"ec_number_list": [],
"go_molecular_function": "GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding",
"go_cellular_component": "GO:0005615 extracellular space",
"go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling",
"synthesized_glycan_count": 0,
"hit_score": 3.1,
"record_id": "P55774-1",
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},
{
"uniprot_canonical_ac": "Q06432-1",
"uniprot_id": [
{
"id": "CCG1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q06432",
"type": "external"
}
],
"mass": 25028.0,
"length": 222,
"protein_name": "Voltage-dependent calcium channel gamma-1 subunit",
"gene_name": "CACNG1",
"organism": "Human",
"refseq_name": "voltage-dependent calcium channel gamma-1 subunit",
"refseq_ac": [
{
"id": "NP_000718",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000718",
"type": "external"
}
],
"gene_names_uniprotkb": "CACNG1; CACNLG",
"gene_names_refseq": "CACNG1; CACNLG",
"protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-1 subunit; Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma",
"protein_names_refseq": "L-type calcium channel gamma polypeptide; calcium channel, voltage-dependent, gamma subunit 1; dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma; neuronal dihydropyridine-sensitive calcium channel gamma subunit; voltage-dependent calcium channel gamma-1 subunit",
"tax_id": 9606,
"disease": "malignant hyperthermia (Disease Ontology:DOID:8545)",
"pathway": " (hsa:786)",
"pathway_count": 1,
"publication_count": 2,
"publication_id_list": "8387489;8404045",
"class_list": "",
"function": "Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics., [UniProtKB, UniProtKB]; Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]., [RefSeq]",
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"secondary_ac_list": "B2R9N3;Q14D59",
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"go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity",
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{
"id": "CDNF_HUMAN",
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"protein_name": "Cerebral dopamine neurotrophic factor",
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"refseq_name": "cerebral dopamine neurotrophic factor precursor",
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{
"id": "NP_001025125",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025125",
"type": "external"
}
],
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"gene_names_refseq": "ARMETL1; CDNF",
"protein_names_uniprotkb": "Cerebral dopamine neurotrophic factor; ARMET-like protein 1; Conserved dopamine neurotrophic factor",
"protein_names_refseq": "ARMET-like protein 1; arginine-rich, mutated in early stage tumors-like 1; cerebral dopamine neurotrophic factor precursor; conserved dopamine neurotrophic factor",
"tax_id": 9606,
"disease": "bacterial infectious disease (Disease Ontology:DOID:104); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330)",
"pathway": " (hsa:441549)",
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"publication_id_list": "10.1101/2023.09.13.557529;17611540;18561914;19258449;19429035;21320571;24715725;29557506;32157095;32938616;33534843;33940158;34284712;34575854;34932366;35494241;39019902;39894887",
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"function": "Although no CDNF mutations are found in early-onset Parkinson's disease patient samples, a trend towards increased risk for Parkinson's in carriers of the C allele of rs7094179 single nucleotide polymorphism (SNP) is found., [RefSeq, PubMed]; Cerebral Dopamine Neurotrophic Factor (CDNF): Structure, Functions, and Therapeutic Potential. Review article, [RefSeq, PubMed]; Cerebral dopamine neurotrophic factor reduces alpha-synuclein aggregation and propagation and alleviates behavioral alterations in vivo., [RefSeq, PubMed]; Delivery of CDNF by AAV-mediated gene transfer protects dopamine neurons and regulates ER stress and inflammation in an acute MPTP mouse model of Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Expressed in several tissues; might be beneficial for the treatment of Parkinson's disease, [RefSeq, PubMed]; Human-Specific Regulation of Neurotrophic Factors MANF and CDNF by microRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; Protection of dopamine neurons by CDNF and neurturin variant N4 against MPP+ in dissociated cultures from rat mesencephalon. Publication Status: Online-Only, [RefSeq, PubMed]; Structures of MANF and CDNF were solved; structure explains why MANF and CDNF are bifunctional; neurotrophic activity may reside in the N-terminal domain and ER stress response in the C-terminal domain, [RefSeq, PubMed]; Study suggests that there is no association between variants in the CDNF gene and cocaine dependence. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Trophic factor for dopamine neurons. Prevents the 6-hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity)., [UniProtKB]",
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{
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"protein_name": "Caveolae-associated protein 3",
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"refseq_name": "caveolae-associated protein 3",
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{
"id": "NP_659477",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_659477",
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],
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"gene_names_refseq": "CAVIN3; HSRBC; PRKCDBP; SRBC; cavin-3",
"protein_names_uniprotkb": "Caveolae-associated protein 3; Cavin-3; Protein kinase C delta-binding protein; Serum deprivation response factor-related gene product that binds to C-kinase; hSRBC",
"protein_names_refseq": "caveolae-associated protein 3; protein kinase C delta binding protein; sdr-related gene product that binds to c-kinase; serum deprivation response factor-related gene product that binds to C-kinase",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:112464)",
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"publication_id_list": "11237011;11691816;15940253;17081983;18059034;18220336;18452278;18578522;18669648;18691976;19262564;19415658;19651622;19691289;20068231;21406692;23186163;24275569;24714562;25576301;25645385;26614875;26728094;26992070;27600516;27846572;28832583;29242379;29493099;29557506;29786170;30429286;31154438;31844290;31848261;32157095;32488085;32897882;32938616;32945503;32983136;33141586;33968037;33981976;34142659;34932366;35051231;35224960;35318648;35580925;36215666;36284347;38665916",
"class_list": "",
"function": "Cavin3 released from caveolae interacts with BRCA1 to regulate the cellular stress response. Publication Status: Online-Only, [RefSeq, PubMed]; HSRBC is a candidate tumor suppressor gene involved in lung cancer pathogenesis, where expression is frequently inactivated by methylation and other mechanisms, [RefSeq, PubMed]; HSRBC is a novel tumor suppressor whose epigenetic inactivation contributes to the malignant progression of gastric tumors, in part, through attenuated p53 response to stresses., [RefSeq, PubMed]; Human SRBC is located within the 11p15.5-p15.4 tumor suppressor region and is inactivated in breast and lung cancers., [RefSeq, PubMed]; Low expression of PRKCDBP promoted cisplatin resistance in lung adenocarcinoma by DNMT1 and TNFalpha., [RefSeq, PubMed]; PRKCDBP Methylation is a Potential and Promising Candidate Biomarker for Non-small Cell Lung Cancer., [RefSeq, PubMed]; Regulates the traffic and/or budding of caveolae (PubMed:19262564). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core clock components PER1/2 and CRY1/2 (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Results suggest that SRBC (sdr-related gene product that binds to c-kinase) and two other family members [PTRF (Pol I and transcription release factor) and SDPR] function as caveolin adapter molecules that regulate caveolae function., [RefSeq, PubMed]; The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
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"protein_name": "C-C motif chemokine 4",
"gene_name": "CCL4",
"organism": "Human",
"refseq_name": "C-C motif chemokine 4-like precursor",
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{
"id": "NP_996890",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_996890",
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],
"gene_names_uniprotkb": "CCL4; LAG1; MIP1B; SCYA4",
"gene_names_refseq": "AT744.2; CCL4L1; CCL4L; LAG-1; LAG1; MIP-1-beta; SCYA4L1; SCYA4L2; SCYA4L",
"protein_names_uniprotkb": "C-C motif chemokine 4; ACT-2; G-26 T-lymphocyte-secreted protein; HC21; LAG-1; Lymphocyte activation gene 1 protein; MIP-1-beta(1-69); MIP-1-beta; Macrophage inflammatory protein 1-beta; PAT 744; Protein H400; SIS-gamma; Small-inducible cytokine A4; T-cell activation protein 2",
"protein_names_refseq": "C-C motif chemokine 4-like precursor; C-C motif chemokine 4-like; CC chemokine ligand 4L1; Lymphocyte activation gene 1 protein; Macrophage inflammatory protein 1-beta; Monocyte adherence-induced protein 5-alpha; Small-inducible cytokine A4-like; chemokine (C-C motif) ligand 4-like 1, telomeric; macrophage inflammatory protein-1b2; small inducible cytokine A4-like",
"tax_id": 9606,
"disease": "sinusitis (Disease Ontology:DOID:0050127); COVID-19 (Disease Ontology:DOID:0080600); dry eye syndrome (Disease Ontology:DOID:10140); viral pneumonia (Disease Ontology:DOID:10533); mastitis (Disease Ontology:DOID:10690); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); cystic fibrosis (Disease Ontology:DOID:1485); status epilepticus (Disease Ontology:DOID:1824); hepatitis B (Disease Ontology:DOID:2043); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); autoimmune disease (Disease Ontology:DOID:417); systemic scleroderma (Disease Ontology:DOID:418); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); septic arthritis (Disease Ontology:DOID:813); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); visceral leishmaniasis (Disease Ontology:DOID:9146); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:388372); (hsa:6351); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)",
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"function": "CCL4L1 allele frequency is higher in severe psoriasis, whereas CCL4L2 is more frequent in patients with a milder disease., [RefSeq, PubMed]; Identified 13 ADCC-activated genes. Six gene expression assays including 8 of the 13 genes (CCL3, CCL4/CCL4L1/CCL4L2, CD160, IFNG, NR4A3 and XCL1/XCL2) were analyzed in 127 kidney biopsies, [RefSeq, PubMed]; Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5-mediated entry of HIV-1 in T-cells. MIP-1-beta(3-69) is also a ligand for CCR1 and CCR2 isoform B., [UniProtKB, PubMed, PubMed, PubMed]; PCR results show that lower copy numbers of CCL4L1 are observed in the Caucasian population nd higher copy numbers are observed in the Black population of South Africa., [RefSeq, PubMed]; This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]",
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"go_molecular_function": "GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0031726 CCR1 chemokine receptor binding;GO:0031730 CCR5 chemokine receptor binding;GO:0008009 chemokine activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space",
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},
{
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"protein_name": "C-X-C chemokine receptor type 4",
"gene_name": "CXCR4",
"organism": "Human",
"refseq_name": "C-X-C chemokine receptor type 4 isoform a",
"refseq_ac": [
{
"id": "NP_001008540",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008540",
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}
],
"gene_names_uniprotkb": "CXCR4",
"gene_names_refseq": "CD184; CXCR4; D2S201E; FB22; HM89; HSY3RR; LCR1; LESTR; NPY3R; NPYRL; NPYR; NPYY3R; WHIMS1; WHIMS; WHIM",
"protein_names_uniprotkb": "C-X-C chemokine receptor type 4; CXC-R4; CXCR-4; FB22; Fusin; HM89; LAP-3; LCR1; LESTR; LPS-associated protein 3; Leukocyte-derived seven transmembrane domain receptor; Lipopolysaccharide-associated protein 3; NPYRL; SDF-1 receptor; Stromal cell-derived factor 1 receptor",
"protein_names_refseq": "C-X-C chemokine receptor type 4 isoform a; C-X-C chemokine receptor type 4; CD184 antigen; SDF-1 receptor; chemokine (C-X-C motif) receptor 4; fusin; leukocyte-derived seven transmembrane domain receptor; lipopolysaccharide-associated protein 3; neuropeptide Y receptor Y3; neuropeptide Y3 receptor; seven transmembrane helix receptor; seven-transmembrane-segment receptor, spleen; stromal cell-derived factor 1 receptor",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (Disease Ontology:DOID:0050909); ductal carcinoma in situ (Disease Ontology:DOID:0060074); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); WHIM syndrome 1 (Disease Ontology:DOID:0060591); lymphoplasmacytic lymphoma (Disease Ontology:DOID:0060901); colorectal carcinoma (Disease Ontology:DOID:0080199); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); amblyopia (Disease Ontology:DOID:10376); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); urinary bladder cancer (Disease Ontology:DOID:11054); osteoporosis (Disease Ontology:DOID:11476); dilated cardiomyopathy (Disease Ontology:DOID:12930); HELLP syndrome (Disease Ontology:DOID:13133); lung cancer (Disease Ontology:DOID:1324); interstitial cystitis (Disease Ontology:DOID:13949); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); calcinosis (Disease Ontology:DOID:182); rectum cancer (Disease Ontology:DOID:1993); nephroblastoma (Disease Ontology:DOID:2154); ovarian cancer (Disease Ontology:DOID:2394); larynx cancer (Disease Ontology:DOID:2596); laryngeal carcinoma (Disease Ontology:DOID:2600); transitional cell carcinoma (Disease Ontology:DOID:2671); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); carcinoma (Disease Ontology:DOID:305); high grade glioma (Disease Ontology:DOID:3070); temporal lobe epilepsy (Disease Ontology:DOID:3328); osteosarcoma (Disease Ontology:DOID:3347); mammary Paget's disease (Disease Ontology:DOID:3443); invasive lobular carcinoma (Disease Ontology:DOID:3457); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); mucoepidermoid carcinoma (Disease Ontology:DOID:4531); hemangioblastoma (Disease Ontology:DOID:5241); stomach carcinoma (Disease Ontology:DOID:5517); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); median neuropathy (Disease Ontology:DOID:571); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); leukopenia (Disease Ontology:DOID:615); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); ulcerative colitis (Disease Ontology:DOID:8577); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)",
"pathway": " (hsa:7852); (R-HSA-173107); (R-HSA-376176); (R-HSA-380108); (R-HSA-418594); (R-HSA-9823730); (R-HSA-9827857); (R-HSA-9937080)",
"pathway_count": 8,
"publication_count": 259,
"publication_id_list": "10074102;10074122;10089882;10102266;10102268;10229797;10413516;10452968;10480633;10486146;10497202;10504731;10521508;10640743;10644702;10706668;10725696;10725697;10756055;10781587;10825158;10892742;11007482;11027346;11038187;11060282;11237011;11276205;11375980;11591141;11926830;12034737;12120503;12149255;12508280;12554737;12692554;12773651;12884299;1438243;14602072;15063764;15067078;15183061;15504864;15536153;15565337;15756007;15951850;16107333;16284180;1629954;16357147;16634148;16725153;16923326;17056593;17077324;17081983;17197449;17204604;1744577;17565045;18220336;1840701;18434541;18577758;18669648;18767875;18799424;18834145;1891716;19002187;19116316;19308288;19564924;19651622;19687226;20002784;20048153;20068231;20215400;20228059;20375348;20505072;2078213;20929726;21245162;21540189;21630377;21855631;2191297;2217207;22424782;2247146;22496149;22722314;22745793;23186163;2364015;23734232;23817178;24023874;2423119;2428879;24366360;2441877;24553177;24632620;24659821;24715725;24912431;2534964;2541505;25471741;25502872;25543152;25576301;25612609;25775124;25843708;26015544;26075720;26154972;26189426;26992070;27127886;27245949;27439769;2748346;27705785;2788443;28228285;2834384;2846352;28834231;28904123;28978524;28985527;29091993;29242379;29314611;29557506;29632711;29665227;2970963;29713018;29786170;30018141;3001934;30315122;30353642;30484775;30524438;30590035;30629940;3098319;31092671;31154438;31844290;31848261;31937595;31998317;32127035;32157095;32161166;32350084;32502341;3260265;32733009;32764981;32795420;33141586;33392160;33470497;33608411;33936100;33968037;34065661;34078123;34357683;34433824;34927784;35051231;35411086;35494241;35580925;36215666;36241641;3629244;37209686;39093700;39173233;39206986;39225100;39327570;39407172;6083454;6096719;7505609;7538176;7602097;7622448;7642634;7672826;7679328;7687306;7745678;7851893;7875320;7937899;8015379;8048929;8076606;8234909;8276799;8325644;8329116;8373393;8383238;8406495;8474172;8500173;8612573;8629022;8639485;8649511;8658171;8674119;8752280;8752281;8849450;8849694;8906796;8929542;9024663;9094670;9108481;9151832;9164944;9166405;9166430;9169459;9207005;9276730;9311827;9390561;9427609;9463416;9468539;9499113;9546217;9573233;9599023;9618518;9632396;9641677;9721247;9879064",
"class_list": "",
"function": "(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:10074122, PubMed:10756055, PubMed:8849450, PubMed:8929542, PubMed:9427609)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CXCR4 promotes migration, invasion, and epithelial-mesenchymal transition of papillary thyroid carcinoma by activating STAT3 signaling pathway., [RefSeq, PubMed]; CXCR4 regulates macrophage M1 polarization by altering glycolysis to promote prostate fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Potential protective association of the AA genotype and a allele of CXCR4 rs2228014 polymorphism with COVID-19 severity in adult egyptians. Publication Status: Online-Only, [RefSeq, PubMed]; RGS1 targeted by miR-191-3p inhibited the stemness properties of esophageal cancer cells by suppressing CXCR4/PI3K/AKT signaling., [RefSeq, PubMed]; Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10074102, PubMed:10452968, PubMed:10644702, PubMed:10825158, PubMed:18799424, PubMed:20048153, PubMed:20505072, PubMed:24912431, PubMed:28978524, PubMed:8752280, PubMed:8752281). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:16725153, PubMed:17197449, PubMed:18799424, PubMed:39093700). CXCR4 is coupled to G(i) G alpha proteins and mediates inhibition of adenylate cyclase (PubMed:17197449, PubMed:39093700). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. during wound healing (PubMed:28978524). Also acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation (By similarity). Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells (By similarity). Involved in cerebellar development; in the CNS, could mediate hippocampal-neuron surviva (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Recruitment of CXCR4+ type 1 innate lymphoid cells distinguishes sarcoidosis from other skin granulomatous diseases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"total_reported_n_glycosites": 2,
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"reported_phosphosites": 29,
"reported_mutagensis": 48,
"reported_glycation": 0,
"reported_snv": 22,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "prognostic",
"glycan_count": 0,
"disease_count": 60,
"glyco_site_count": 3,
"binding_glycan_count": 0,
"secondary_ac_list": "B2R5N0;O60835;P30991;P56438;Q53S69;Q9BXA0;Q9UKN2",
"ec_number_list": [],
"go_molecular_function": "GO:0003779 actin binding;GO:0004930 G protein-coupled receptor activity;GO:0015026 coreceptor activity;GO:0016493 C-C chemokine receptor activity;GO:0016494 C-X-C chemokine receptor activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031252 cell leading edge",
"go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration",
"synthesized_glycan_count": 0,
"hit_score": 26.3,
"record_id": "P61073-1",
"record_type": "protein",
"filter_code": "0001000.1100111.100000.000000000001000000.1100100000001.110.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q2M2I5-1",
"uniprot_id": [
{
"id": "K1C24_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q2M2I5",
"type": "external"
}
],
"mass": 55087.0,
"length": 525,
"protein_name": "Keratin, type I cytoskeletal 24",
"gene_name": "KRT24",
"organism": "Human",
"refseq_name": "keratin, type I cytoskeletal 24",
"refseq_ac": [
{
"id": "NP_061889",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_061889",
"type": "external"
}
],
"gene_names_uniprotkb": "KRT24; KA24",
"gene_names_refseq": "CK-24; K24; KA24; KRT24",
"protein_names_uniprotkb": "Keratin, type I cytoskeletal 24; CK-24; Cytokeratin-24; K24; Keratin-24; Type I keratin-24",
"protein_names_refseq": "cytokeratin-24; keratin 24, type I; keratin, type I cytoskeletal 24; type I keratin-24",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:192666); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554)",
"pathway_count": 4,
"publication_count": 82,
"publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12067728;12230514;12624109;12902340;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16382671;16639001;1691188;1694855;1714783;17317818;17330888;17515931;17521629;17562024;17596512;18452278;18843291;19190773;19194479;19924134;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23481192;23629652;2414304;24794495;25208914;25645385;25926655;26340985;26390218;28362807;29039047;29557506;29786170;30429286;30905808;31399284;32157095;32822701;32938616;33968037;34211107;34450690;35051231;35580925;36010968;36241641;7543090;8824274;8999895;9395522;9468612;9565599",
"class_list": "",
"function": "Identification of cytokeratin24 as a tumor suppressor for the management of head and neck cancer. Publication Status: Online-Only, [RefSeq, PubMed]; K24 may be suggested as a potential differentiation marker and anti-proliferative factor in the epidermis. Publication Status: Online-Only, [RefSeq, PubMed]; KRT24 encodes a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile; sequence aberrations were not found in Naegeli-Franceschetti-Jadassohn syndrome, [RefSeq, PubMed]; Relative gene expression analysis of human pterygium tissues and UV radiation-evoked gene expression patterns in corneal and conjunctival cells., [RefSeq, PubMed]; The keratinocyte differentiation marker Keratin 24 is expressed in our dermo-epidermal skin substitutes in a normal pattern. This highlights that our bio-engineered skin analogs mature and reach homeostasis in an in vivo assay., [RefSeq, PubMed]; This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]., [RefSeq]",
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"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "Q9NXG7",
"ec_number_list": [],
"go_molecular_function": "GO:0030280 structural constituent of skin epidermis",
"go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament",
"go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium",
"synthesized_glycan_count": 0,
"hit_score": 8.3,
"record_id": "Q2M2I5-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "O95835-1",
"uniprot_id": [
{
"id": "LATS1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O95835",
"type": "external"
}
],
"mass": 126870.0,
"length": 1130,
"protein_name": "Serine/threonine-protein kinase LATS1",
"gene_name": "LATS1",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase LATS1 isoform 2",
"refseq_ac": [
{
"id": "NP_001257448",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257448",
"type": "external"
}
],
"gene_names_uniprotkb": "LATS1; WARTS",
"gene_names_refseq": "LATS1; WARTS; wts",
"protein_names_uniprotkb": "Serine/threonine-protein kinase LATS1; 2.7.11.1; Large tumor suppressor homolog 1; WARTS protein kinase; h-warts",
"protein_names_refseq": "LATS (large tumor suppressor, Drosophila) homolog 1; LATS, large tumor suppressor, homolog 1; WARTS protein kinase; h-warts; large tumor suppressor homolog 1; serine/threonine-protein kinase LATS1 isoform 2; serine/threonine-protein kinase LATS1",
"tax_id": 9606,
"disease": "benign neoplasm (Disease Ontology:DOID:0060072); neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); kidney cancer (Disease Ontology:DOID:263); carcinoma (Disease Ontology:DOID:305); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)",
"pathway": " (hsa:9113); (R-HSA-2028269)",
"pathway_count": 2,
"publication_count": 129,
"publication_id_list": "10.1101/2023.09.13.557529;10518011;10831611;11118213;11237011;11278283;12372621;15109305;15122335;15144186;15220930;15688006;16930133;17085597;17322306;17344846;17525332;17974916;18158288;18227151;18328708;18452278;18669648;18691976;19413330;19651622;19664995;19739119;19927127;20303269;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21832154;23186163;23481700;24356468;24682284;24714562;24715725;25418920;25576301;25645385;25723520;25892735;26154972;26437443;26929215;26992070;27555231;27600516;27846572;27847303;27862975;27869121;28068668;28087714;28169360;28218747;28228285;28832583;28834231;28904123;29093443;29242379;29317530;29393594;29437277;29493099;29557506;29758456;29769354;29786170;30315122;30410026;30429286;30524438;30779550;30784271;30800215;30863499;31154438;31217245;31569999;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32938750;32983136;33270624;33298915;33392160;33537174;33592498;33672268;33717175;33912179;33968037;34087483;34185709;34932366;35051231;35254053;35318648;35513511;35580925;36010968;36241641;38277019;38372068;38665916;38754347;39173637;39248565;39302247;39531497;8702870;9545236;9988268",
"class_list": "",
"function": "HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14., [RefSeq, PubMed]; LATS1 Promotes B-ALL Tumorigenesis by Regulating YAP1 Phosphorylation and Subcellular Localization., [RefSeq, PubMed]; LncRNA HOTAIR promotes the migration and invasion of cervical cancer through DNMT3B/LATS1/ YAP1 pS127 axis., [RefSeq, PubMed]; M[6]A-induced TRIB3 regulates Hippo pathway through interacting with LATS1 to promote the progression of lung adenocarcinoma., [RefSeq, PubMed]; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:10518011, PubMed:10831611, PubMed:18158288, PubMed:26437443, PubMed:28068668). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288, PubMed:26437443, PubMed:28068668). Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288, PubMed:26437443, PubMed:28068668). Acts as a tumor suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint (PubMed:15122335, PubMed:19927127). Negatively regulates G2/M transition by down-regulating CDK1 kinase activity (PubMed:9988268). Involved in the control of p53 expression (PubMed:15122335). Affects cytokinesis by regulating actin polymerization through negative modulation of LIMK1 (PubMed:15220930). May also play a role in endocrine function. Plays a role in mammary gland epithelial cell differentiation, both through the Hippo signaling pathway and the intracellular estrogen receptor signaling pathway by promoting the degradation of ESR1 (PubMed:28068668). Acts as an activator of the NLRP3 inflammasome by mediating phosphorylation of 'Ser-265' of NLRP3 following NLRP3 palmitoylation, promoting NLRP3 activation by NEK7 (PubMed:39173637)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]., [RefSeq]",
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"function": "High MAGEB4 expression is associated with Transitional Cell Carcinoma of Bladder., [RefSeq, PubMed]; The whole exome analysis of a consanguineous Turkish family revealed MAGEB4 as a possible new X-linked cause of inherited male infertility. This study provides the first clue to the physiological function of a MAGE protein., [RefSeq, PubMed]; This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
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"protein_names_refseq": "coated vesicle membrane protein; membrane protein p24A; p24 family protein beta-1; transmembrane emp24 domain trafficking protein 2; transmembrane emp24 domain-containing protein 2 isoform 2 precursor",
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"function": "Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1. In COPI vesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventing immature uncoating and allowing cargo selection to take place. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Facilitates CASR maturation and stabilization in the early secretory pathway and increases CASR plasma membrane targeting. Proposed to be involved in organization of intracellular membranes such as the maintenance of the Golgi apparatus. May also play a role in the biosynthesis of secreted cargo such as eventual processing., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TMED2 Induces Cisplatin Resistance in Breast Cancer via Targeting the KEAP1-Nrf2 Pathway., [RefSeq, PubMed]; TMED2 promotes glioma tumorigenesis by being involved in EGFR recycling transport., [RefSeq, PubMed]; VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization., [RefSeq, PubMed]",
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"go_molecular_function": "GO:0005109 frizzled binding;GO:0005119 smoothened binding",
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"go_biological_process": "GO:0048205 COPI coating of Golgi vesicle;GO:0006886 intracellular protein transport;GO:0072659 protein localization to plasma membrane;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating",
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"record_id": "Q15363-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P17022-1",
"uniprot_id": [
{
"id": "ZNF18_HUMAN",
"url": "https://www.uniprot.org/uniprot/P17022",
"type": "external"
}
],
"mass": 62288.0,
"length": 549,
"protein_name": "Zinc finger protein 18",
"gene_name": "ZNF18",
"organism": "Human",
"refseq_name": "zinc finger protein 18 isoform 1",
"refseq_ac": [
{
"id": "NP_001290210",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290210",
"type": "external"
}
],
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"gene_names_refseq": "HDSG1; KOX11; ZKSCAN6; ZNF18; ZNF535; ZSCAN38; Zfp535",
"protein_names_uniprotkb": "Zinc finger protein 18; Heart development-specific gene 1 protein; Zinc finger protein 535; Zinc finger protein KOX11; Zinc finger protein with KRAB and SCAN domains 6",
"protein_names_refseq": "heart development-specific gene 1 protein; zinc finger protein 18 (KOX 11); zinc finger protein 18 isoform 1; zinc finger protein 535; zinc finger protein with KRAB and SCAN domains 6",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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},
{
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{
"id": "CD4_HUMAN",
"url": "https://www.uniprot.org/uniprot/P01730",
"type": "external"
}
],
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"protein_name": "T-cell surface glycoprotein CD4",
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"refseq_name": "T-cell surface glycoprotein CD4 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_000607",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000607",
"type": "external"
}
],
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"protein_names_uniprotkb": "T-cell surface glycoprotein CD4; T-cell surface antigen T4/Leu-3",
"protein_names_refseq": "CD4 antigen (p55); CD4 receptor; T-cell surface antigen T4/Leu-3; T-cell surface glycoprotein CD4 isoform 1 precursor",
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"pathway": " (hsa:920); (R-HSA-1462054); (R-HSA-167590); (R-HSA-173107); (R-HSA-180534); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948); (R-HSA-449836); (R-HSA-8856825); (R-HSA-8856828)",
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"class_list": "",
"function": "(Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:12089508, PubMed:16331979, PubMed:2214026, PubMed:9641677). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Evaluating CD4 and Foxp3 mRNA Expression in Tissue Specimens of Celiac Disease and Colorectal Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; HIV-1 Env trimers asymmetrically engage CD4 receptors in membranes. Erratum:[Nature. 2025 Mar;639(8054):E15. doi: 10.1038/s41586-025-08802-9. PMID: 39994465], [RefSeq, PubMed]; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Intermediate conformations of CD4-bound HIV-1 Env heterotrimers. Erratum:[Nature. 2024 Feb;626(7998):E7. doi: 10.1038/s41586-024-07082-z. PMID: 38243106], [RefSeq, PubMed]; Stem-cell-like CD4[+] T cells prey on MHC class II-negative tumors., [RefSeq, PubMed]; The relationship between high ratios of CD4/FOXP3 and CD8/CD163 and the improved survivability of metastatic triple-negative breast cancer patients: a multicenter cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]., [RefSeq]",
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"secondary_ac_list": "B2R737;D3DUS5;Q4ZGK2;Q5U066;Q9UDE5",
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"go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0008270 zinc ion binding;GO:0015026 coreceptor activity;GO:0019899 enzyme binding",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0042101 T cell receptor complex",
"go_biological_process": "GO:0032507 maintenance of protein location in cell;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway",
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},
{
"uniprot_canonical_ac": "Q9BYE7-1",
"uniprot_id": [
{
"id": "PCGF6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BYE7",
"type": "external"
}
],
"mass": 39047.0,
"length": 350,
"protein_name": "Polycomb group RING finger protein 6",
"gene_name": "PCGF6",
"organism": "Human",
"refseq_name": "polycomb group RING finger protein 6 isoform a",
"refseq_ac": [
{
"id": "NP_001011663",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011663",
"type": "external"
}
],
"gene_names_uniprotkb": "PCGF6; MBLR; RNF134",
"gene_names_refseq": "MBLR; PCGF6; RNF134",
"protein_names_uniprotkb": "Polycomb group RING finger protein 6; Mel18 and Bmi1-like RING finger; RING finger protein 134",
"protein_names_refseq": "Mel18 and Bmi1-like RING finger protein; polycomb group RING finger protein 6 isoform a; polycomb group RING finger protein 6; ring finger protein 134",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84108); (R-HSA-8953750)",
"pathway_count": 2,
"publication_count": 49,
"publication_id_list": "11171983;11237011;12004135;12167161;12909625;15014447;15536069;17001316;17320162;17600109;18562691;19636380;19651622;20068231;21406692;21596310;23186163;23954429;24275569;24627085;25576301;26151332;26154972;26992070;27600516;28228285;28904123;29242379;30315122;30429286;31844290;31998317;32157095;32357974;32387766;32938616;33298915;33592498;33912179;33968037;33981976;34171305;34509645;35051231;35933409;7623816;9501179;9689056;9704927",
"class_list": "",
"function": "PCGF6 controls neuroectoderm specification of human pluripotent stem cells by activating SOX2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation by cell cycle-dependent phosphorylation, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor (PubMed:12167161). May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase (PubMed:17320162). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167161). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332)., [UniProtKB, PubMed, PubMed, PubMed]",
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"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0031519 PcG protein complex;GO:0035102 PRC1 complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription",
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"record_id": "Q9BYE7-1",
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},
{
"uniprot_canonical_ac": "Q8N165-1",
"uniprot_id": [
{
"id": "PDK1L_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N165",
"type": "external"
}
],
"mass": 38546.0,
"length": 341,
"protein_name": "Serine/threonine-protein kinase PDIK1L",
"gene_name": "PDIK1L",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase PDIK1L",
"refseq_ac": [
{
"id": "NP_001230461",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230461",
"type": "external"
}
],
"gene_names_uniprotkb": "PDIK1L; CLIK1L",
"gene_names_refseq": "CLIK1L; PDIK1L; STK35L2",
"protein_names_uniprotkb": "Serine/threonine-protein kinase PDIK1L; 2.7.11.1; PDLIM1-interacting kinase 1-like",
"protein_names_refseq": "casein kinase; serine/threonine-protein kinase PDIK1L",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:149420)",
"pathway_count": 1,
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"publication_id_list": "11237011;14631099;23481700;25892735;26154972;28904123;29557506;29769354;30315122;31217245;31844290;32357974;32387766;32938616;33141586;33537174;33691108;33912179;35021089;35051231;36284347",
"class_list": "",
"function": "SCP4-STK35/PDIK1L complex is a dual phospho-catalytic signaling dependency in acute myeloid leukemia., [RefSeq, PubMed]",
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"refseq_name": "receptor activity-modifying protein 1 isoform 1 precursor",
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{
"id": "NP_005846",
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"protein_names_refseq": "CRLR activity-modifying protein 1; calcitonin receptor-like receptor activity modifying protein 1; receptor (G protein-coupled) activity modifying protein 1; receptor (calcitonin) activity modifying protein 1; receptor activity-modifying protein 1 isoform 1 precursor",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10267); (R-HSA-418555); (R-HSA-419812)",
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"class_list": "",
"function": "Accessory protein that interacts with and modulates the function of G protein-coupled receptors including calcitonin gene-related peptide type 1 receptor (CALCRL) and calcitonin receptor (CALCR) (PubMed:33602864, PubMed:9620797, PubMed:35324283, PubMed:38603770). Required for the transport of CALCRL to the plasma membrane (PubMed:9620797). Together with CALCRL, form the receptor complex for the calcitonin gene-related peptides CGRP1/CALCA and CGRP2/CALCB (PubMed:33602864, PubMed:9620797). Together with CALCR, form the AMYR1 receptor complex for amylin/IAPP and CGRP1/CALCA (PubMed:35324283, PubMed:38603770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Accessory protein that interacts with and modulates the function of G-protein coupled receptors including calcitonin gene-related peptide type 1 receptor (CALCRL) and calcitonin receptor (CALCR). Required for the transport of CALCRL to the plasma membrane. Together with CALCRL, form the receptor complex for the calcitonin gene-related peptides CGRP1/CALCA and CGRP2/CALCB. Together with CALCR, form the AMYR1 receptor complex for amylin/IAPP and CGRP1/CALCA., [UniProtKB, UniProtKB]; Involvement of RAMP1/p38MAPK signaling pathway in osteoblast differentiation in response to mechanical stimulation: a preliminary study. Erratum:[J Orthop Surg Res. 2024 Jul 9;19(1):399. doi: 10.1186/s13018-024-04872-z. PMID: 38982512] Publication Status: Online-Only, [RefSeq, PubMed]; Peptide ligand interaction with maltose-binding protein tagged to the calcitonin gene-related peptide receptor: The inhibitory role of receptor N-glycosylation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [RefSeq]",
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"go_molecular_function": "GO:0015026 coreceptor activity;GO:0001635 calcitonin gene-related peptide receptor activity;GO:0097643 amylin receptor activity;GO:1990407 calcitonin gene-related peptide binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:1990406 CGRP receptor complex",
"go_biological_process": "GO:0001525 angiogenesis;GO:0006886 intracellular protein transport;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0015031 protein transport",
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},
{
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{
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],
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"length": 748,
"protein_name": "Antigen peptide transporter 1",
"gene_name": "TAP1",
"organism": "Human",
"refseq_name": "antigen peptide transporter 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001278951",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278951",
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],
"gene_names_uniprotkb": "TAP1; ABCB2; PSF1; RING4; Y3",
"gene_names_refseq": "ABC17; ABCB2; APT1; D6S114E; MHC1D1; PSF-1; PSF1; RING4; TAP1*0102N; TAP1N; TAP1",
"protein_names_uniprotkb": "Antigen peptide transporter 1; 7.4.2.14; APT1; ATP-binding cassette sub-family B member 2; PSF-1; Peptide supply factor 1; Peptide transporter PSF1; Peptide transporter TAP1; Peptide transporter involved in antigen processing 1; RING4; Really interesting new gene 4 protein",
"protein_names_refseq": "ABC transporter, MHC 1; ATP-binding cassette sub-family B member 2; ATP-binding cassette, sub-family B (MDR/TAP), member 2; antigen peptide transporter 1 isoform 2; antigen peptide transporter 1; peptide supply factor 1; peptide transporter PSF1; peptide transporter TAP1; peptide transporter involved in antigen processing 1; really interesting new gene 4 protein; transporter 1 ATP-binding cassette sub-family B; transporter 1, ATP-binding cassette, sub-family B (MDR/TAP); transporter associated with antigen processing; transporter, ATP-binding cassette, major histocompatibility complex, 1",
"tax_id": 9606,
"disease": "MHC class I deficiency (Disease Ontology:DOID:0060009); open-angle glaucoma (Disease Ontology:DOID:1067); allergic disease (Disease Ontology:DOID:1205); diffuse scleroderma (Disease Ontology:DOID:1580); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cervical cancer (Disease Ontology:DOID:4362); rhinitis (Disease Ontology:DOID:4483); schizophrenia (Disease Ontology:DOID:5419); reactive arthritis (Disease Ontology:DOID:6196); ankylosing spondylitis (Disease Ontology:DOID:7147); extrinsic allergic alveolitis (Disease Ontology:DOID:841); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); bronchiectasis (Disease Ontology:DOID:9563); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:6890); (R-HSA-1236974); (R-HSA-983170)",
"pathway_count": 3,
"publication_count": 125,
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"function": "ABC transporter associated with antigen processing. In complex with TAP2 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25377891, PubMed:25656091). Uses the chemical energy of ATP to export peptides against the concentration gradient (PubMed:25377891). During the transport cycle alternates between 'inward-facing' state with peptide binding site facing the cytosol to 'outward-facing' state with peptide binding site facing the ER lumen. Peptide antigen binding to ATP-loaded TAP1-TAP2 induces a switch to hydrolysis-competent 'outward-facing' conformation ready for peptide loading onto nascent MHCI molecules. Subsequently ATP hydrolysis resets the transporter to the 'inward facing' state for a new cycle (PubMed:11274390, PubMed:25377891, PubMed:25656091). Typically transports intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome. Binds peptides with free N- and C-termini, the first three and the C-terminal residues being critical. Preferentially selects peptides having a highly hydrophobic residue at position 3 and hydrophobic or charged residues at the C-terminal anchor. Proline at position 2 has the most destabilizing effect (PubMed:11274390, PubMed:7500034, PubMed:9256420). As a component of the peptide loading complex (PLC), acts as a molecular scaffold essential for peptide-MHCI assembly and antigen presentation (PubMed:1538751, PubMed:25377891, PubMed:26611325)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Antigen Peptide Transporter 1 (TAP1) Promotes Resistance to MEK Inhibitors in Pancreatic Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer analysis: predictive role of TAP1 in cancer prognosis and response to immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; TAP1, a potential immune-related prognosis biomarker with functional significance in uveal melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]",
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"url": "https://www.rhea-db.org/rhea/?query=ec:7.4.2.14",
"type": "external"
}
],
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"go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030670 phagocytic vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane",
"go_biological_process": "GO:0006952 defense response;GO:0015031 protein transport;GO:0055085 transmembrane transport;GO:0002250 adaptive immune response;GO:0015833 peptide transport",
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},
{
"uniprot_canonical_ac": "Q8TF42-1",
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{
"id": "UBS3B_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TF42",
"type": "external"
}
],
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"protein_name": "Ubiquitin-associated and SH3 domain-containing protein B",
"gene_name": "UBASH3B",
"organism": "Human",
"refseq_name": "ubiquitin-associated and SH3 domain-containing protein B isoform 1",
"refseq_ac": [
{
"id": "NP_116262",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116262",
"type": "external"
}
],
"gene_names_uniprotkb": "UBASH3B; KIAA1959; STS1",
"gene_names_refseq": "STS-1; STS1; TULA-2; TULA2; UBASH3B; p70",
"protein_names_uniprotkb": "Ubiquitin-associated and SH3 domain-containing protein B; 3.1.3.48; Cbl-interacting protein p70; STS-1; Suppressor of T-cell receptor signaling 1; T-cell ubiquitin ligand 2; TULA-2; Tyrosine-protein phosphatase STS1/TULA2",
"protein_names_refseq": "Cbl-interacting protein Sts-1; SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate; T-cell ubiquitin ligand 2; cbl-interacting protein p70; tyrosine-protein phosphatase STS1/TULA2; ubiquitin-associated and SH3 domain-containing protein B isoform 1; ubiquitin-associated and SH3 domain-containing protein B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84959)",
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"publication_count": 44,
"publication_id_list": "14654843;15159412;15388581;16303743;16497976;17880946;18669648;19413330;23481700;24715725;25576301;26903241;26992070;27846572;27862975;27920218;28832583;29237092;29242379;29393594;29557506;29632711;30524438;30779550;31154438;31844290;31848261;32371395;32387766;32897882;32938616;33298915;33556471;33968037;33981976;34087483;34509645;35051231;35132862;35580925;35705054;36241641;37217939;38461240",
"class_list": "",
"function": "An unexpected 2-histidine phosphoesterase activity of suppressor of T-cell receptor signaling protein 1 contributes to the suppression of cell signaling., [RefSeq, PubMed]; FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression. Publication Status: Online-Only, [RefSeq, PubMed]; Hsp70 inhibits apoptosis upstream and downstream of the mitochondria and is a promising therapeutic target for reversing drug-resistance in chronic myeloid leukemia-blast crisis and acute myeloid leukemia cells., [RefSeq, PubMed]; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination., [UniProtKB, PubMed, PubMed]; Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases, [RefSeq, PubMed]; This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubash3b promotes TPA-mediated suppression of leukemogenesis through accelerated downregulation of PKCdelta protein., [RefSeq, PubMed]",
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{
"id": "3.1.3.16",
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"type": "external"
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{
"id": "3.1.3.48",
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{
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{
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-",
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{
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{
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{
"id": "2.7.10.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1",
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},
{
"id": "3.1.3.67",
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{
"id": "3.1.3.27",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27",
"type": "external"
}
],
"go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0051219 phosphoprotein binding;GO:0004725 protein tyrosine phosphatase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0070527 platelet aggregation;GO:0009968 negative regulation of signal transduction;GO:0051279 regulation of release of sequestered calcium ion into cytosol;GO:0045779 negative regulation of bone resorption;GO:0045670 regulation of osteoclast differentiation",
"synthesized_glycan_count": 0,
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},
{
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{
"id": "CECR2_HUMAN",
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}
],
"mass": 164213.0,
"length": 1484,
"protein_name": "Chromatin remodeling regulator CECR2",
"gene_name": "CECR2",
"organism": "Human",
"refseq_name": "chromatin remodeling regulator CECR2 isoform 2",
"refseq_ac": [
{
"id": "NP_001276975",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276975",
"type": "external"
}
],
"gene_names_uniprotkb": "CECR2; KIAA1740",
"gene_names_refseq": "CECR2",
"protein_names_uniprotkb": "Chromatin remodeling regulator CECR2; Cat eye syndrome critical region protein 2",
"protein_names_refseq": "cat eye syndrome chromosome region, candidate 2; cat eye syndrome critical region protein 2; chromatin remodeling regulator CECR2 isoform 2; chromatin remodeling regulator CECR2",
"tax_id": 9606,
"disease": "anencephaly (Disease Ontology:DOID:0060668)",
"pathway": " (hsa:27443)",
"pathway_count": 1,
"publication_count": 20,
"publication_id_list": "11237011;11381032;11827465;15640247;18477386;21406692;22464331;25593309;26365797;28801535;31154438;32356653;32897882;33468647;33592498;33826083;33936100;35051231;35108062;35494241",
"class_list": "",
"function": "A novel tumor suppressor CECR2 down regulation links glutamine metabolism contributes tumor growth in laryngeal squamous cell carcinoma., [RefSeq, PubMed]; CECR2 drives breast cancer metastasis by promoting NF-kappaB signaling and macrophage-mediated immune suppression., [RefSeq, PubMed]; Discovery of a hidden transient state in all bromodomain families., [RefSeq, PubMed]; NMR Analyses of Acetylated H2A.Z Isoforms Identify Differential Binding Interactions with the Bromodomain of the NURF Nucleosome Remodeling Complex., [RefSeq, PubMed]; Regulatory subunit of the ATP-dependent CERF-1 and CERF-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:15640247, PubMed:22464331, PubMed:26365797, PubMed:28801535). The complexes do not have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). The CERF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the CERF-5 ISWI chromatin remodeling complex (PubMed:28801535). Plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:22464331, PubMed:26365797). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]",
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"secondary_ac_list": "A8MS90;A8MX16;Q658Z4;Q96P58;Q9C0C3",
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"go_molecular_function": "GO:0140658 ATP-dependent chromatin remodeler activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0000791 euchromatin;GO:0090537 CERF complex",
"go_biological_process": "GO:0006338 chromatin remodeling;GO:0007338 single fertilization;GO:0007010 cytoskeleton organization;GO:0097194 execution phase of apoptosis;GO:0016192 vesicle-mediated transport",
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},
{
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{
"id": "PTN7_HUMAN",
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],
"mass": 40529.0,
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"protein_name": "Tyrosine-protein phosphatase non-receptor type 7",
"gene_name": "PTPN7",
"organism": "Human",
"refseq_name": "tyrosine-protein phosphatase non-receptor type 7 isoform 2",
"refseq_ac": [
{
"id": "NP_542155",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_542155",
"type": "external"
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],
"gene_names_uniprotkb": "PTPN7",
"gene_names_refseq": "BPTP-4; HEPTP; LC-PTP; LPTP; PTPN7; PTPNI",
"protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 7; 3.1.3.48; HEPTP; Hematopoietic protein-tyrosine phosphatase; Protein-tyrosine phosphatase LC-PTP",
"protein_names_refseq": "dual specificity phosphatase 1; hematopoietic protein-tyrosine phosphatase; protein-tyrosine phosphatase LC-PTP; protein-tyrosine phosphatase, nonreceptor-type, stress induced; tyrosine-protein phosphatase non-receptor type 7 isoform 2; tyrosine-protein phosphatase non-receptor type 7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:5778); (R-HSA-5675221); (R-HSA-9008059)",
"pathway_count": 3,
"publication_count": 89,
"publication_id_list": "10206983;10415025;10490027;10559944;10702794;10757792;11145836;11237011;11839743;12096920;12381835;12583813;12809600;14613483;14724641;1510684;1530918;15466470;15527767;15664191;15851477;16226275;16441242;16765894;16892053;17097642;17724343;18088087;18294816;18332145;18390730;18515281;18547165;19091743;19158341;19690332;20332238;20935647;21779496;22645359;22730326;23105109;23186163;24481253;24714562;24715725;25314968;25597358;25729923;26024233;26992070;27060871;27846572;27920218;28063628;28092676;28228285;28832583;29242379;29351928;29493099;29508533;29632046;29769354;29786170;30315122;30410026;31217245;31266805;31844290;32357974;32387766;32502341;32897882;32983136;33298915;33633747;33717175;33912179;34185709;34932366;35051231;35132862;35580925;36284347;36581221;40307207;40914422;9624114",
"class_list": "",
"function": "PTPN7 regulates platelet functional responses downstream of GPCR agonists, but not GPVI agonists, through inhibition of ERK activation and thromboxane generation., [RefSeq, PubMed]; Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]",
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{
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{
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{
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{
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},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-",
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{
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{
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{
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{
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{
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27",
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],
"go_molecular_function": "GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0009898 cytoplasmic side of plasma membrane",
"go_biological_process": "GO:0007165 signal transduction;GO:0000165 MAPK cascade;GO:0006470 protein dephosphorylation",
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},
{
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"url": "https://www.uniprot.org/uniprot/P02689",
"type": "external"
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],
"mass": 14909.0,
"length": 132,
"protein_name": "Myelin P2 protein",
"gene_name": "PMP2",
"organism": "Human",
"refseq_name": "myelin P2 protein isoform 1",
"refseq_ac": [
{
"id": "NP_002668",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002668",
"type": "external"
}
],
"gene_names_uniprotkb": "PMP2",
"gene_names_refseq": "CMT1G; FABP8; M-FABP; MP2; P2; PMP2",
"protein_names_uniprotkb": "Myelin P2 protein; Peripheral myelin protein 2",
"protein_names_refseq": "myelin P2 protein isoform 1; myelin P2 protein",
"tax_id": 9606,
"disease": "Charcot-Marie-Tooth disease type 1G (Disease Ontology:DOID:0111560)",
"pathway": " (hsa:5375)",
"pathway_count": 1,
"publication_count": 17,
"publication_id_list": "11237011;16170091;1720307;20421974;26257172;26828946;27009151;29557506;30001391;30249361;32265298;32277537;34138518;34758297;37938771;6183401;7525873",
"class_list": "",
"function": "Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice., [RefSeq, PubMed]; Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2., [RefSeq, PubMed]; Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants., [RefSeq, PubMed]; May play a role in lipid transport protein in Schwann cells. May bind cholesterol., [UniProtKB, PubMed]; PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane., [RefSeq, PubMed]; The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]., [RefSeq]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0043209 myelin sheath;GO:0070062 extracellular exosome",
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},
{
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{
"id": "RET5_HUMAN",
"url": "https://www.uniprot.org/uniprot/P82980",
"type": "external"
}
],
"mass": 15931.0,
"length": 135,
"protein_name": "Retinol-binding protein 5",
"gene_name": "RBP5",
"organism": "Human",
"refseq_name": "retinol-binding protein 5 isoform 1",
"refseq_ac": [
{
"id": "NP_113679",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_113679",
"type": "external"
}
],
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"gene_names_refseq": "CRBP-III; CRBP3; CRBPIII; HRBPiso; RBP5",
"protein_names_uniprotkb": "Retinol-binding protein 5; CRBP-III; Cellular retinol-binding protein III; HRBPiso",
"protein_names_refseq": "cellular retinol-binding protein III; putative cellular retinol-binding protein CRBP III; retinol binding protein 5, cellular; retinol-binding protein 5 isoform 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:83758)",
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"publication_count": 4,
"publication_id_list": "11237011;11274389;17497168;31154438",
"class_list": "",
"function": "Intracellular transport of retinol., [UniProtKB, PubMed]; Our study revealed that RBP5 down-regulation in HCC was associated with aggressive tumor features, suggesting an, [RefSeq, PubMed]; The protein encoded by this gene is a cellular retinol-binding protein expressed highly in kidney and liver. Down-regulation of the encoded protein in hepatocellular carcinoma was associated with large tumor size and poor patient survival rates. [provided by RefSeq, Jul 2016]., [RefSeq]",
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},
{
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{
"id": "CCD40_HUMAN",
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],
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"protein_name": "Coiled-coil domain-containing protein 40",
"gene_name": "CCDC40",
"organism": "Human",
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{
"id": "NP_001230271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230271",
"type": "external"
}
],
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"gene_names_refseq": "CCDC40; CFAP172; CILD15; FAP172",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 40",
"protein_names_refseq": "coiled-coil domain containing 40; coiled-coil domain-containing protein 40 isoform 2; coiled-coil domain-containing protein 40",
"tax_id": 9606,
"disease": "primary ciliary dyskinesia 15 (Disease Ontology:DOID:0110623); primary ciliary dyskinesia (Disease Ontology:DOID:9562)",
"pathway": " (hsa:55036)",
"pathway_count": 1,
"publication_count": 22,
"publication_id_list": "11237011;21131974;22693285;23255504;23402890;24366607;25186273;27120127;29242379;29632046;31530632;31650533;31844290;31998317;32157095;32502341;32938616;34941110;35051231;35580925;39056782;39894887",
"class_list": "",
"function": "Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, a large cohort of patients with IDA defects were screened. Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 unrelated families with IDA defects., [RefSeq, PubMed]; CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia., [RefSeq, PubMed]; CCDC40 mutations in humans result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes., [RefSeq, PubMed]; Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia., [RefSeq, PubMed]; Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7. Publication Status: Online-Only, [RefSeq, PubMed]; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; This study shows that CCDC39 and CCDC40 mutations are the major cause of Primary ciliary dyskinesia in patients with the previously termed 'radial spoke defect'., [RefSeq, PubMed]",
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"secondary_ac_list": "A8MTD2;C9JTI9;C9JTJ0;C9JXW1;J3QSY2;Q6PE47;Q9HCD2;Q9NWL5",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0031514 motile cilium;GO:0005930 axoneme",
"go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0030317 flagellated sperm motility;GO:0030324 lung development;GO:0001947 heart looping;GO:0044458 motile cilium assembly",
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},
{
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{
"id": "CGB2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6NT52",
"type": "external"
}
],
"mass": 17374.0,
"length": 163,
"protein_name": "Choriogonadotropin subunit beta variant 2",
"gene_name": "CGB2",
"organism": "Human",
"refseq_name": "choriogonadotropin subunit beta variant 2 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_203696",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_203696",
"type": "external"
}
],
"gene_names_uniprotkb": "CGB2",
"gene_names_refseq": "CGB2",
"protein_names_uniprotkb": "Choriogonadotropin subunit beta variant 2",
"protein_names_refseq": "choriogonadotropin subunit beta variant 2 isoform 1 precursor; chorionic gonadotropin beta subunit 2; chorionic gonadotropin, beta polypeptide 2; product of CGB2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:114336)",
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"function": "In silico prediction of putative transcription factor binding sites supports the hypothesis that CGB1 and CGB2 gene products are expressed in, and may contribute to, implantation and placental development., [RefSeq, PubMed]; The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]., [RefSeq]; The presence of CGB1 and CGB2 transcripts in 41% of analyzed ovarian cancer cases, is reported. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "B9ZVM5;H9KV56",
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"go_molecular_function": "GO:0005179 hormone activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region",
"go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway",
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},
{
"uniprot_canonical_ac": "Q9BWV3-1",
"uniprot_id": [
{
"id": "CDAC1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BWV3",
"type": "external"
}
],
"mass": 58455.0,
"length": 514,
"protein_name": "dCTP deaminase",
"gene_name": "CDADC1",
"organism": "Human",
"refseq_name": "cytidine and dCMP deaminase domain-containing protein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001180407",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180407",
"type": "external"
}
],
"gene_names_uniprotkb": "CDADC1",
"gene_names_refseq": "CDADC1; NYD-SP15; bA103J18.1",
"protein_names_uniprotkb": "dCTP deaminase; 3.5.4.13; Cytidine and dCMP deaminase domain-containing protein 1; Deoxycytidine triphosphate deaminase; Testis development protein NYD-SP15",
"protein_names_refseq": "cytidine and dCMP deaminase domain-containing protein 1 isoform 2; cytidine and dCMP deaminase domain-containing protein 1; cytidine deaminase; protein kinase NYD-SP15; testis development protein NYD-SP15",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:81602)",
"pathway_count": 1,
"publication_count": 12,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;16955368;26945630;31217245;31844290;32157095;32350084;32387766;32938616;40324085;40504152",
"class_list": "",
"function": "Catalyzes the deamination of dCTP to dUTP, exhibiting a strong substrate preference for dCTP over CTP (PubMed:40324085, PubMed:40504152). No deaminase activity toward 5-methyl-dCTP, cytidine, or deoxycytidine (PubMed:40324085, PubMed:40504152). May play an important role in testicular development and spermatogenesis (PubMed:16955368). In addition to its role on endogenous nucleotides, it deaminates the active triphosphate forms of the cytidine analog drugs, gemcitabine (dFdCTP) and decitabine (5-aza-dCTP), rendering them susceptible to inactivation by deoxyuridine triphosphatase (DUT). This process limits drug-induced cytotoxicity and contributes to cellular resistance to gemcitabine and decitabine (PubMed:40504152)., [UniProtKB, PubMed, PubMed, PubMed]; NYD-SP15 contained nuclear localization sequence and nuclear export-signal and could dynamically shuttle between the nucleus and cytoplasm., [RefSeq, PubMed]; NYD-SP15 protein plays an important role in testicular development and spermatogenesis, [RefSeq, PubMed]",
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"secondary_ac_list": "Q49A08;Q4G119;Q5TAW9;Q7Z764;Q9NT36",
"ec_number_list": [
{
"id": "3.5.4.13",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.13",
"type": "external"
}
],
"go_molecular_function": "GO:0061676 importin-alpha family protein binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0004132 dCMP deaminase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm",
"go_biological_process": "GO:0070383 DNA cytosine deamination",
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"hit_score": 1.5,
"record_id": "Q9BWV3-1",
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"filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.00000",
"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "TSBP1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q5SRN2",
"type": "external"
}
],
"mass": 61626.0,
"length": 563,
"protein_name": "Testis-expressed basic protein 1",
"gene_name": "TSBP1",
"organism": "Human",
"refseq_name": "testis-expressed basic protein 1 isoform b",
"refseq_ac": [
{
"id": "NP_001273403",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273403",
"type": "external"
}
],
"gene_names_uniprotkb": "TSBP1; C6orf10",
"gene_names_refseq": "C6orf10; TSBP1; TSBP",
"protein_names_uniprotkb": "Testis-expressed basic protein 1; Uncharacterized protein C6orf10",
"protein_names_refseq": "testis specific basic protein; testis-expressed basic protein 1 isoform b; uncharacterized protein C6orf10",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10665)",
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"publication_id_list": "11237011;12509440;28832583;30252044;30620550;33022050;34656742;38042215",
"class_list": "",
"function": "Impact of missense TSBP1 variants on the susceptibility to coronary heart disease., [RefSeq, PubMed]; Multilocus evaluation of genetic predictors of multiple sclerosis., [RefSeq, PubMed]; Our findings suggest that CpG-single nucleotide polymorphisms at the C6orf10/LOC101929163 locus might modify age of onset in C9orf72 carriers belonging to the entire amyotrophic lateral sclerosis-frontotemporal dementia spectrum by controlling DNA methylation and gene expression, [RefSeq, PubMed]; Shared Signature of Recent Positive Selection on the TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North Borneo., [RefSeq, PubMed]",
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"secondary_ac_list": "A2BET1;A2BET2;A6NME2;B0S7R2;B0S7R3;E9PMB1;Q5SPI9;Q5SPJ0;Q5SPK9;Q5SPL0;Q5SRN3;Q5TG25;Q5TG26;Q8N4B6",
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"go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane",
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},
{
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{
"id": "NUMA1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14980",
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}
],
"mass": 238260.0,
"length": 2115,
"protein_name": "Nuclear mitotic apparatus protein 1",
"gene_name": "NUMA1",
"organism": "Human",
"refseq_name": "nuclear mitotic apparatus protein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001273490",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273490",
"type": "external"
}
],
"gene_names_uniprotkb": "NUMA1; NMP22; NUMA",
"gene_names_refseq": "NMP-22; NUMA1; NUMA",
"protein_names_uniprotkb": "Nuclear mitotic apparatus protein 1; NMP-22; NuMA protein; Nuclear matrix protein-22; Nuclear mitotic apparatus protein; SP-H antigen",
"protein_names_refseq": "SP-H antigen; centrophilin stabilizes mitotic spindle in mitotic cells; nuclear matrix protein-22; nuclear mitotic apparatus protein 1 isoform 2; structural nuclear protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:4926); (R-HSA-380320); (R-HSA-68875)",
"pathway_count": 3,
"publication_count": 190,
"publication_id_list": "10075938;10811826;11163243;11229403;11237011;11781568;11956313;12080061;12445386;15302935;1541630;1541636;15592455;15684076;16076287;16408927;16565220;16964243;17081983;17172455;17525332;17924679;18077418;18212344;18220336;18331640;18452278;18491316;18669648;18767875;19007248;19255246;19367720;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20109190;20137953;20166139;21406692;21816348;22252550;22327364;22706990;23027904;23186163;23301498;23481700;23783831;23870127;23921553;24109598;24275569;24371089;24714562;24715725;24996901;25114211;25218447;25505266;25576301;25657325;25772364;25810538;26154972;26195665;26246606;26562023;26765568;26766442;26768311;26811146;26832443;26853435;26992070;27462074;27600516;27655845;27846572;27862975;27920218;28228285;28510447;28514659;28657654;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30429286;30620550;30779550;30812030;30833945;31092671;31154438;31217245;31373491;31492838;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34509645;34561969;34725712;34846842;34932366;35051231;35083852;35132862;35138101;35251023;35254053;35289036;35318648;35580925;35705054;35926461;36010968;36215666;36241641;36284347;36626904;37340703;37938771;38665916;39531497;39534244;40307207;40596516;7769006;7962183;8408288;8505359;8838651;9730450",
"class_list": "",
"function": "Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment., [RefSeq, PubMed]; Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074, PubMed:7769006). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:11956313, PubMed:12445386). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:22327364, PubMed:23027904, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24371089, PubMed:24996901). Also binds to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24371089, PubMed:24996901). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NuMA deficiency causes micronuclei via checkpoint-insensitive k-fiber minus-end detachment from mitotic spindle poles., [RefSeq, PubMed]; This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]., [RefSeq]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
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"total_reported_n_glycosites": 0,
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"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 84,
"reported_mutagensis": 9,
"reported_glycation": 0,
"reported_snv": 51,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 24,
"binding_glycan_count": 0,
"secondary_ac_list": "H0YH75;Q14981;Q9BTE9",
"ec_number_list": [],
"go_molecular_function": "GO:0008017 microtubule binding;GO:0019904 protein domain specific binding;GO:0005198 structural molecule activity;GO:0044877 protein-containing complex binding;GO:0051010 microtubule plus-end binding",
"go_cellular_component": "GO:0055028 cortical microtubule;GO:1905720 cytoplasmic microtubule bundle;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm",
"go_biological_process": "GO:0055048 anastral spindle assembly;GO:1902365 positive regulation of protein localization to spindle pole body;GO:1902846 positive regulation of mitotic spindle elongation;GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation",
"synthesized_glycan_count": 0,
"hit_score": 21.6,
"record_id": "Q14980-1",
"record_type": "protein",
"filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y230-1",
"uniprot_id": [
{
"id": "RUVB2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y230",
"type": "external"
}
],
"mass": 51157.0,
"length": 463,
"protein_name": "RuvB-like 2",
"gene_name": "RUVBL2",
"organism": "Human",
"refseq_name": "ruvB-like 2 isoform 3",
"refseq_ac": [
{
"id": "NP_001308120",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308120",
"type": "external"
}
],
"gene_names_uniprotkb": "RUVBL2; CGI-46; INO80J; TIP48; TIP49B",
"gene_names_refseq": "CGI-46; ECP-51; ECP51; INO80J; REPTIN; RUVBL2; RVB2; TAP54-beta; TIH2; TIP48; TIP49B",
"protein_names_uniprotkb": "RuvB-like 2; 3.6.4.12; 48 kDa TATA box-binding protein-interacting protein; 48 kDa TBP-interacting protein; 51 kDa erythrocyte cytosolic protein; ECP-51; INO80 complex subunit J; Repressing pontin 52; Reptin 52; TAP54-beta; TIP49b; TIP60-associated protein 54-beta",
"protein_names_refseq": "48 kDa TATA box-binding protein-interacting protein; 48 kDa TBP-interacting protein; 51 kDa erythrocyte cytosolic protein; INO80 complex subunit J; RuvB (E coli homolog)-like 2; TIP60-associated protein 54-beta; erythrocyte cytosolic protein, 51-KD; repressing pontin 52; reptin52 protein; ruvB-like 2 isoform 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10856); (R-HSA-171319); (R-HSA-3214847)",
"pathway_count": 3,
"publication_count": 177,
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"class_list": "",
"function": "Adenovirus E1A binding to DCAF10 targets proteasomal degradation of RUVBL1/2 AAA+ ATPases required for quaternary assembly of multiprotein machines, innate immunity, and responses to metabolic stress., [RefSeq, PubMed]; Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (PubMed:10428817, PubMed:17157868, PubMed:33205750). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 (PubMed:14966270). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). May also inhibit the transcriptional activity of ATF2 (PubMed:11713276). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes (PubMed:25652260). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Proposed core component of the chromatin remodeling Ino80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress m6A-Dependent Oncogenic Translation and Colorectal Tumorigenesis., [RefSeq, PubMed]; This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B3KQ59;E7ETE5;Q6FIB9;Q6PK27;Q9Y361",
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{
"id": "5.6.2.4",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4",
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{
"id": "3.6.1.-",
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{
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{
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{
"id": "2.7.7.49",
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051082 unfolded protein binding;GO:0051117 ATPase binding",
"go_cellular_component": "GO:0097255 R2TP complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0090671 telomerase RNA localization to Cajal body;GO:0006281 DNA repair;GO:0006310 DNA recombination",
"synthesized_glycan_count": 0,
"hit_score": 18.1,
"record_id": "Q9Y230-1",
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},
{
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{
"id": "PMYT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q99640",
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],
"mass": 54521.0,
"length": 499,
"protein_name": "Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase",
"gene_name": "PKMYT1",
"organism": "Human",
"refseq_name": "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform 3",
"refseq_ac": [
{
"id": "NP_001245379",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245379",
"type": "external"
}
],
"gene_names_uniprotkb": "PKMYT1; MYT1",
"gene_names_refseq": "MYT1; PKMYT1; PPP1R126",
"protein_names_uniprotkb": "Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase; 2.7.11.1; Myt1 kinase",
"protein_names_refseq": "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform 3; membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase; myt1 kinase; protein phosphatase 1, regulatory subunit 126",
"tax_id": 9606,
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{
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},
{
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],
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],
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"tax_id": 9606,
"disease": "alopecia areata (Disease Ontology:DOID:986)",
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"class_list": "",
"function": "Identification of protein/mRNA network involving the PSORS1 locus gene CCHCR1 and the PSORS4 locus gene HAX1., [RefSeq, PubMed]; May be a regulator of keratinocyte proliferation or differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Segregation of nascent GPCRs in the ER-to-Golgi transport by CCHCR1 via direct interaction., [RefSeq, PubMed]; This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]., [RefSeq]",
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},
{
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],
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{
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{
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303865",
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}
],
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"tax_id": 9606,
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"id": "4.1.1.32",
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{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "1.16.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-",
"type": "external"
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{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
"type": "external"
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{
"id": "2.7.11.34",
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{
"id": "3.4.19.12",
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{
"id": "3.6.-.-",
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"id": "2.7.1.150",
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"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane",
"go_biological_process": "GO:0006468 protein phosphorylation;GO:0046330 positive regulation of JNK cascade;GO:0000165 MAPK cascade;GO:0007254 JNK cascade;GO:0043525 positive regulation of neuron apoptotic process",
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{
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{
"id": "UBP15_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y4E8",
"type": "external"
}
],
"mass": 112419.0,
"length": 981,
"protein_name": "Ubiquitin carboxyl-terminal hydrolase 15",
"gene_name": "USP15",
"organism": "Human",
"refseq_name": "ubiquitin carboxyl-terminal hydrolase 15 isoform 1",
"refseq_ac": [
{
"id": "NP_001239007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239007",
"type": "external"
}
],
"gene_names_uniprotkb": "USP15; KIAA0529",
"gene_names_refseq": "UNPH-2; UNPH4; USP15",
"protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 15; 3.4.19.12; Deubiquitinating enzyme 15; Ubiquitin thioesterase 15; Ubiquitin-specific-processing protease 15; Unph-2; Unph4",
"protein_names_refseq": "deubiquitinating enzyme 15; ubiquitin carboxyl-terminal hydrolase 15 isoform 1; ubiquitin carboxyl-terminal hydrolase 15; ubiquitin thioesterase 15; ubiquitin thiolesterase 15; ubiquitin-specific-processing protease 15",
"tax_id": 9606,
"disease": "chronic myeloid leukemia (Disease Ontology:DOID:8552)",
"pathway": " (hsa:9958); (R-HSA-2173788); (R-HSA-5689603); (R-HSA-5689880)",
"pathway_count": 4,
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"class_list": "",
"function": "(Microbial infection) Protects APC and human papillomavirus type 16 protein E6 against degradation via the ubiquitin proteasome pathway., [UniProtKB, PubMed]; A functional Zn finger of USP15 is needed to maintain a conformation essential for disassembling poly-Ub chains, a prerequisite for rescuing the E3 ligase Rbx1., [RefSeq, PubMed]; ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of the human ubiquitin-specific protease 15 DUSP domain, [RefSeq, PubMed]; Hydrolase that removes conjugated ubiquitin from target proteins and regulates various pathways such as the TGF-beta receptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways (PubMed:16005295, PubMed:17318178, PubMed:19576224, PubMed:19826004, PubMed:21947082, PubMed:22344298, PubMed:24852371). Acts as a key regulator of TGF-beta receptor signaling pathway, but the precise mechanism is still unclear: according to a report, acts by promoting deubiquitination of monoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), thereby alleviating inhibition of R-SMADs and promoting activation of TGF-beta target genes (PubMed:21947082). According to another reports, regulates the TGF-beta receptor signaling pathway by mediating deubiquitination and stabilization of TGFBR1, leading to an enhanced TGF-beta signal (PubMed:22344298). Able to mediate deubiquitination of monoubiquitinated substrates, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:33093067). May also regulate gene expression and/or DNA repair through the deubiquitination of histone H2B (PubMed:24526689). Acts as an inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes cleavage of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains attached by parkin on target proteins such as MFN2, thereby reducing parkin's ability to drive mitophagy (PubMed:24852371). Acts as an associated component of COP9 signalosome complex (CSN) and regulates different pathways via this association: regulates NF-kappa-B by mediating deubiquitination of NFKBIA and deubiquitinates substrates bound to VCP (PubMed:16005295, PubMed:17318178, PubMed:19576224, PubMed:19826004). Involved in endosome organization by mediating deubiquitination of SQSTM1: ubiquitinated SQSTM1 forms a molecular bridge that restrains cognate vesicles in the perinuclear region and its deubiquitination releases target vesicles for fast transport into the cell periphery (PubMed:27368102). Acts as a negative regulator of antifungal immunity by mediating 'Lys-27'-linked deubiquitination of CARD9, thereby inactivating CARD9 (PubMed:33093067)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; In vivo CRISPR screens reveal SCAF1 and USP15 as drivers of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]., [RefSeq]; USP15 facilitates the progression of bladder cancer by amplifying the activation of the NF-kappaB signaling pathway., [RefSeq, PubMed]; USP15-USP7 Axis and UBE2T Differential Expression May Predict Pathogenesis and Poor Prognosis in De Novo Myelodysplastic Neoplasm. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-specific peptidase 15 regulates the TFAP4/PCGF1 axis facilitating liver metastasis of colorectal cancer and cell stemness., [RefSeq, PubMed]",
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{
"id": "2.7.11.30",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30",
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{
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],
"go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0005160 transforming growth factor beta receptor binding;GO:0046332 SMAD binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol",
"go_biological_process": "GO:0051252 regulation of RNA metabolic process;GO:1905035 negative regulation of antifungal innate immune response;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0007179 transforming growth factor beta receptor signaling pathway",
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},
{
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{
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],
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"refseq_name": "coiled-coil domain-containing protein 138 isoform 2",
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{
"id": "NP_001290034",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290034",
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],
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},
{
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"uniprot_id": [
{
"id": "CDC6_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q99741",
"type": "external"
}
],
"mass": 62720.0,
"length": 560,
"protein_name": "DNA replication factor CDC6",
"gene_name": "CDC6",
"organism": "Human",
"refseq_name": "cell division control protein 6 homolog isoform 1",
"refseq_ac": [
{
"id": "NP_001245",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245",
"type": "external"
}
],
"gene_names_uniprotkb": "CDC6; CDC18L",
"gene_names_refseq": "CDC18L; CDC6; HsCDC18; HsCDC6; MGORS5",
"protein_names_uniprotkb": "DNA replication factor CDC6; CDC6-related protein; Cdc18-related protein; Cell division control protein 6 homolog; HsCDC6; HsCdc18; p62(cdc6)",
"protein_names_refseq": "CDC6 cell division cycle 6 homolog; CDC6-related protein; cdc18-related protein; cell division control protein 6 homolog isoform 1; cell division control protein 6 homolog; p62(cdc6)",
"tax_id": 9606,
"disease": "Meier-Gorlin syndrome (Disease Ontology:DOID:0060306); Meier-Gorlin syndrome 5 (Disease Ontology:DOID:0080516)",
"pathway": " (hsa:990); (R-HSA-1362277); (R-HSA-176187); (R-HSA-68689); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69017); (R-HSA-69205)",
"pathway_count": 9,
"publication_count": 207,
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"function": "CDC6 is a prognostic biomarker and correlated with immune infiltrates in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; CDC6 may serve as an indicator of lung adenocarcinoma prognosis and progression based on TCGA and GEO data mining and experimental analyses., [RefSeq, PubMed]; FOXM1 Promotes Malignant Proliferation of Esophageal Squamous Cell Carcinoma Through Transcriptional Activating CDC6., [RefSeq, PubMed]; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated., [UniProtKB]; Role of TOP2A and CDC6 in liver cancer., [RefSeq, PubMed]; The Effect of High CDC6 Levels on Predicting Poor Prognosis in Colorectal Cancer., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0000166 nucleotide binding;GO:0120283 protein serine/threonine kinase binding",
"go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol",
"go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0051984 positive regulation of chromosome segregation;GO:1904385 cellular response to angiotensin;GO:0008285 negative regulation of cell population proliferation;GO:0051301 cell division",
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},
{
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{
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}
],
"mass": 49023.0,
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"protein_name": "Cyclin-dependent kinase 15",
"gene_name": "CDK15",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 15 isoform 1",
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{
"id": "NP_001248364",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248364",
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}
],
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"protein_names_uniprotkb": "Cyclin-dependent kinase 15; 2.7.11.22; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein; Cell division protein kinase 15; Serine/threonine-protein kinase ALS2CR7; Serine/threonine-protein kinase PFTAIRE-2",
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"disease": "lissencephaly (Disease Ontology:DOID:0050453); lissencephaly 7 with cerebellar hypoplasia (Disease Ontology:DOID:0112231)",
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"function": "CDK15 promotes colorectal cancer progression via phosphorylating PAK4 and regulating beta-catenin/ MEK-ERK signaling pathway., [RefSeq, PubMed]; Cyclin-dependent kinase 15 upregulation is correlated with poor prognosis for patients with breast cancer., [RefSeq, PubMed]; In summary, our results suggest that ALS2CR7 confers TRAIL resistance to cancer cells via phosphorylation of survivin., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'., [UniProtKB, PubMed]",
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"function": "The authors characterized CCDC74A and CCDC74B as microtubule-associated proteins that localize to spindles and are important K-fiber crosslinkers required for bipolar spindle formation and chromosome alignment. Publication Status: Online-Only, [RefSeq, PubMed]",
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{
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"function": "May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contiguous C2H2 zinc finger domains and a degenerate zinc finger. The KRAB A-box showed weak transcriptional repressor activity in a reporter gene assay. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]; Through peptide mass fingerprinting, the hepatitis C virus NS2-interacting protein was found to be homologous to a repressor of transcription, ZNF136., [RefSeq, PubMed]",
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},
{
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{
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"tax_id": 9606,
"disease": "hereditary spastic paraplegia 76 (Disease Ontology:DOID:0110821); intellectual disability (Disease Ontology:DOID:1059); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); hereditary spastic paraplegia (Disease Ontology:DOID:2476); obesity (Disease Ontology:DOID:9970)",
"pathway": " (hsa:11131); (R-HSA-1474228)",
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"function": "DNA damage-induced paraspeckle formation enhances DNA repair and tumor radioresistance by recruiting ribosomal protein P0. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomal protein P0 is the functional equivalent of E.coli protein L10., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; TNF-alpha and RPLP0 drive the apoptosis of endothelial cells and increase susceptibility to high-altitude pulmonary edema., [RefSeq, PubMed]",
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"secondary_ac_list": "Q3B7A4;Q9BVK4",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0070180 large ribosomal subunit rRNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0014069 postsynaptic density",
"go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0042254 ribosome biogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction",
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},
{
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{
"id": "R3HCL_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7Z5L2",
"type": "external"
}
],
"mass": 87883.0,
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"protein_name": "Coiled-coil domain-containing protein R3HCC1L",
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"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein R3HCC1L isoform 2",
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{
"id": "NP_001243549",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243549",
"type": "external"
}
],
"gene_names_uniprotkb": "R3HCC1L; C10orf28; GIDRP88",
"gene_names_refseq": "C10orf28; GIDRP86; GIDRP88; PSORT; R3HCC1L",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein R3HCC1L; Growth inhibition and differentiation-related protein 88; Putative mitochondrial space protein 32.1; R3H and coiled-coil domain-containing protein 1-like",
"protein_names_refseq": "R3H and coiled-coil domain-containing protein 1-like; coiled-coil domain-containing protein R3HCC1L isoform 2; coiled-coil domain-containing protein R3HCC1L; growth inhibition and differentiation related protein 86; growth inhibition and differentiation-related protein 88; putative mitochondrial space protein 32.1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:27291)",
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"class_list": "",
"function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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},
{
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],
"mass": 104042.0,
"length": 947,
"protein_name": "Mitogen-activated protein kinase kinase kinase 14",
"gene_name": "MAP3K14",
"organism": "Human",
"refseq_name": "mitogen-activated protein kinase kinase kinase 14",
"refseq_ac": [
{
"id": "NP_003945",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003945",
"type": "external"
}
],
"gene_names_uniprotkb": "MAP3K14; NIK",
"gene_names_refseq": "FTDCR1B; HSNIK; HS; IMD112; MAP3K14; NIK",
"protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 14; 2.7.11.25; HsNIK; NF-kappa-beta-inducing kinase; Serine/threonine-protein kinase NIK",
"protein_names_refseq": "NF-kappa-beta-inducing kinase; mitogen-activated protein kinase kinase kinase 14; serine/threonine-protein kinase NIK",
"tax_id": 9606,
"disease": "immunodeficiency 112 (Disease Ontology:DOID:0061079); primary biliary cholangitis (Disease Ontology:DOID:12236); Sjogren's syndrome (Disease Ontology:DOID:12894)",
"pathway": " (hsa:9020); (R-HSA-389357); (R-HSA-5607761); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5676594)",
"pathway_count": 6,
"publication_count": 132,
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"class_list": "",
"function": "EDA2R-NIK signalling promotes muscle atrophy linked to cancer cachexia., [RefSeq, PubMed]; Impairment of a NIK-SIX Feedback Axis Results in Dysregulation of Intestinal Immune Homeostasis and Promotes Early-onset Fatal Spontaneous Colitis., [RefSeq, PubMed]; Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Phosphorylates CHUK/IKKA, thereby promoting proteolytic processing of NFKB2/P100, which leads to NF-kappa-B activation via the non-canonical pathway (PubMed:25406581, PubMed:29230214). Has an essential role in the non-canonical NF-kappa-B signaling that regulates genes encoding molecules involved in B-cell survival, lymphoid organogenesis, and immune response (PubMed:25406581). Could act in a receptor-selective manner., [UniProtKB, PubMed, PubMed]; NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition., [RefSeq, PubMed]; This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional induction of NF-kappaB-inducing kinase by E2F4/5 facilitates collective invasion of GBM cells. Publication Status: Online-Only, [RefSeq, PubMed]",
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{
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{
"id": "4.1.1.32",
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},
{
"id": "3.6.5.-",
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},
{
"id": "6.2.1.64",
"url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64",
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},
{
"id": "2.7.11.38",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38",
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},
{
"id": "2.7.11.34",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34",
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},
{
"id": "3.6.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-",
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},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "2.7.1.150",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150",
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}
],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004709 MAP kinase kinase kinase activity;GO:0106310 protein serine kinase activity",
"go_cellular_component": "GO:0005829 cytosol",
"go_biological_process": "GO:0006955 immune response;GO:0051607 defense response to virus;GO:0000165 MAPK cascade;GO:0071260 cellular response to mechanical stimulus;GO:0038061 non-canonical NF-kappaB signal transduction",
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"hit_score": 13.5,
"record_id": "Q99558-1",
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"filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000",
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},
{
"uniprot_canonical_ac": "Q9P015-1",
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{
"id": "RM15_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P015",
"type": "external"
}
],
"mass": 33420.0,
"length": 296,
"protein_name": "Large ribosomal subunit protein uL15m",
"gene_name": "MRPL15",
"organism": "Human",
"refseq_name": "large ribosomal subunit protein uL15m",
"refseq_ac": [
{
"id": "NP_054894",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_054894",
"type": "external"
}
],
"gene_names_uniprotkb": "MRPL15; HSPC145",
"gene_names_refseq": "HSPC145; L15mt; MRP-L15; MRP-L7; MRPL15; RPML7; uL15m",
"protein_names_uniprotkb": "Large ribosomal subunit protein uL15m; 39S ribosomal protein L15, mitochondrial; L15mt; MRP-L15",
"protein_names_refseq": "39S ribosomal protein L15, mitochondrial; large ribosomal subunit protein uL15m; mitochondrial large ribosomal subunit protein uL15m",
"tax_id": 9606,
"disease": "DiGeorge syndrome (Disease Ontology:DOID:11198)",
"pathway": " (hsa:29088); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)",
"pathway_count": 5,
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"publication_id_list": "11230166;11237011;11543634;15358359;15944288;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;22544926;25233460;25278503;25418920;25576301;25838379;25880248;26154972;26375851;26992070;27029019;27846572;27920218;28063628;28228285;28510447;28832583;28834231;28892042;29242379;29331515;29393594;29508533;29557506;29632046;29786170;30315122;30484775;30524438;30779550;31217245;31844290;32157095;32265295;32357974;32488085;32502341;32938616;32983136;33243891;33298915;33537174;33878294;33934540;33968037;33981976;34016794;34087483;34185709;34561969;34932366;35051231;35177605;35494241;35580925;36010968;36241641;36284347;36302763;36596788;37141370;37938771",
"class_list": "",
"function": "MRPL15 is a novel prognostic biomarker and therapeutic target for epithelial ovarian cancer., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]., [RefSeq]; Methylation factor MRPL15 identified as a potential biological target in Alzheimer's disease., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "Q96Q54;Q9H0Y1",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome",
"go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0015934 large ribosomal subunit",
"go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation",
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},
{
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{
"id": "CCSE1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9C0I3",
"type": "external"
}
],
"mass": 99510.0,
"length": 900,
"protein_name": "Serine-rich coiled-coil domain-containing protein 1",
"gene_name": "CCSER1",
"organism": "Human",
"refseq_name": "serine-rich coiled-coil domain-containing protein 1 isoform 1",
"refseq_ac": [
{
"id": "NP_001138537",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138537",
"type": "external"
}
],
"gene_names_uniprotkb": "CCSER1; FAM190A; KIAA1680",
"gene_names_refseq": "CCSER1; FAM190A",
"protein_names_uniprotkb": "Serine-rich coiled-coil domain-containing protein 1; Coiled-coil serine-rich protein 1",
"protein_names_refseq": "family with sequence similarity 190, member A; protein FAM190A; serine-rich coiled-coil domain-containing protein 1 isoform 1; serine-rich coiled-coil domain-containing protein 1",
"tax_id": 9606,
"disease": "alcohol dependence (Disease Ontology:DOID:0050741); cocaine dependence (Disease Ontology:DOID:9975)",
"pathway": " (hsa:401145)",
"pathway_count": 1,
"publication_count": 15,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;20607790;23665203;24715725;25576301;25892735;28832583;29242379;29557506;29769354;30379171;31092671;34187875;35051231",
"class_list": "",
"function": "Deletion of a pseudogene within a fragile site triggers the oncogenic expression of the mitotic CCSER1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; FAM190A is a regulator or structural component required for normal mitosis and that both the rare truncating mutations and common in-frame deletion alteration of FAM190A may contribute to the chromosomal instability of cancer., [RefSeq, PubMed]; Two SNPs located in genes coding for as yet uncharacterized proteins expressed in the cerebellum, XKR4 in 8q12.1, and FAM190A in 4q22.1 suggest association with association with attention deficit hyperactivity disorder. [FAM190A], [RefSeq, PubMed]",
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"secondary_ac_list": "Q4W5M0;Q86V57",
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},
{
"uniprot_canonical_ac": "Q8N5B7-1",
"uniprot_id": [
{
"id": "CERS5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N5B7",
"type": "external"
}
],
"mass": 45752.0,
"length": 392,
"protein_name": "Ceramide synthase 5",
"gene_name": "CERS5",
"organism": "Human",
"refseq_name": "ceramide synthase 5 isoform 2",
"refseq_ac": [
{
"id": "NP_001268660",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268660",
"type": "external"
}
],
"gene_names_uniprotkb": "CERS5; LASS5",
"gene_names_refseq": "CERS5; LASS5; Trh4",
"protein_names_uniprotkb": "Ceramide synthase 5; 2.3.1.24; 2.3.1.291; CerS5; LAG1 longevity assurance homolog 5; Sphingoid base N-palmitoyltransferase CERS5; Sphingosine N-acyltransferase CERS5",
"protein_names_refseq": "LAG1 homolog, ceramide synthase 5; LAG1 longevity assurance homolog 5; TRAM homolog 4; ceramide synthase 5 isoform 2; sphingoid base N-palmitoyltransferase CERS5; sphingosine N-acyltransferase CERS5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:91012); (R-HSA-1660661)",
"pathway_count": 2,
"publication_count": 96,
"publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;16951403;17023427;17030510;17050692;17081983;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;18541923;19005213;19233134;19416851;19506037;19651622;20061445;20110355;20182505;21620961;22144673;22517924;22661289;22970244;23180825;23530041;23602659;23754960;24190977;24569996;24714562;24782409;25418920;25645385;25788259;26154972;26728094;26887952;26992070;27600516;27846572;28575652;28904123;29557506;29563527;29632068;30059758;30379171;31844290;31895563;31916624;32157095;32265295;32387766;32488085;32938616;33912179;33968037;34171305;34932366;35051231;35409383;35580925;36902339;36907437;37074911;37224812;37390971;38244710;38665916;39182597;4339164;4817756;9188692;9312549;9363775",
"class_list": "glycogene",
"function": "Accumulation of C(16)-ceramide in mitochondria formed from the protein kinase C-dependent salvage pathway results at least in part from the action of longevity-assurance homologue 5, and the generated ceramide modulates the p38 cascade via PP1, [RefSeq, PubMed]; Ceramide synthase that catalyzes the transfer of the fatty acyl chain from fatty acyl-CoA to a sphingoid base, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) (PubMed:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubMed:23530041, PubMed:26887952, PubMed:29632068, PubMed:31916624). Can use different sphingoid bases as substrates for ceramide synthesis, such as sphinganine in de novo synthesis, and sphing-4E-enine (sphingosine), (4R)-hydroxysphinganine (phytosphingosine) or sphinga-4E,14Z-dienine in salvage pathways (PubMed:31916624). Other fatty acyl-CoAs such as long-chain saturated stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA), myristoyl-CoA (tetradecanoyl-CoA; C14:0-CoA), and monounsaturated oleoyl-CoA (9Z-octadecenoyl-CoA; C18:1-CoA) can also act as acyl donors, but with less efficiency than hexadecanoyl-CoA (By similarity). Plays a role in de novo ceramide synthesis and surfactant homeostasis in pulmonary epithelia (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Identification of CERS5 as a molecular biomarker in pan-cancer through multiple omics integrative analysis., [RefSeq, PubMed]; In p53(wt) colon cancer cells chemosensitivity against oxaliplatin or 5-fluorouracil could be enhanced by downregulation of CerS5 expression leading to reduced autophagy and mitochondrial respiration., [RefSeq, PubMed]; Lack of ceramide synthase 5 protects retinal ganglion cells from ocular hypertensive injury., [RefSeq, PubMed]; Study identifies LASS5 as a genuine dihydroceramide synthase and demonstrates that mammalian dihydroceramide synthases do not require additional subunits for their activity, [RefSeq, PubMed]; This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]",
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{
"id": "2.3.1.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.24",
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},
{
"id": "2.3.1.299",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.291",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.298",
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{
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],
"go_molecular_function": "GO:0003677 DNA binding;GO:0050291 sphingosine N-acyltransferase activity",
"go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0005634 nucleus",
"go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0014003 oligodendrocyte development",
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},
{
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],
"mass": 361746.0,
"length": 3197,
"protein_name": "Ciliogenesis and planar polarity effector 1",
"gene_name": "CPLANE1",
"organism": "Human",
"refseq_name": "ciliogenesis and planar polarity effector 1 isoform 2",
"refseq_ac": [
{
"id": "NP_075561",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_075561",
"type": "external"
}
],
"gene_names_uniprotkb": "CPLANE1; C5orf42; JBTS17",
"gene_names_refseq": "C5orf42; CPLANE1; Hug; JBTS17; OFD6",
"protein_names_uniprotkb": "Ciliogenesis and planar polarity effector 1; Protein JBTS17",
"protein_names_refseq": "Heart Under Glass; ciliogenesis and planar polarity effector 1 isoform 2; ciliogenesis and planar polarity effector 1; protein JBTS17; transmembrane protein ENSP00000382582",
"tax_id": 9606,
"disease": "Joubert syndrome with orofaciodigital defect (Disease Ontology:DOID:0060376); Joubert syndrome 17 (Disease Ontology:DOID:0110986)",
"pathway": " (hsa:65250)",
"pathway_count": 1,
"publication_count": 77,
"publication_id_list": "11237011;22264561;22425360;23012439;23169490;23186163;23481700;24178751;24397554;24714562;25407461;25576301;25645385;25846457;25877302;25880248;25892735;25920555;26477546;26811146;26992070;27081551;27452731;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29605658;29632046;29769354;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32373127;32387766;32502341;32938616;32983136;33298915;33392160;33517281;33592498;33633747;33717175;33822487;33912179;33968037;34171305;34185709;34211107;34509645;34932366;35051231;35092359;35580925;35582950;36010968;36215666;36284347;37938771",
"class_list": "",
"function": "C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy., [RefSeq, PubMed]; Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants., [RefSeq, PubMed]; Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome., [RefSeq, PubMed]; Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis, [RefSeq, PubMed]; Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome., [RefSeq, PubMed]; The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]., [RefSeq]; We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features., [RefSeq, PubMed]",
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"secondary_ac_list": "A8MUB7;B7ZLV7;Q4G174;Q6DK46;Q8N8L4;Q9H5T1;Q9H8T9",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0016020 membrane;GO:0035869 ciliary transition zone",
"go_biological_process": "GO:0060271 cilium assembly",
"synthesized_glycan_count": 0,
"hit_score": 7.8,
"record_id": "Q9H799-1",
"record_type": "protein",
"filter_code": "0000000.1000111.001000.000000000001000000.0000000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8TB45-1",
"uniprot_id": [
{
"id": "DPTOR_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TB45",
"type": "external"
}
],
"mass": 46294.0,
"length": 409,
"protein_name": "DEP domain-containing mTOR-interacting protein",
"gene_name": "DEPTOR",
"organism": "Human",
"refseq_name": "DEP domain-containing mTOR-interacting protein isoform 2",
"refseq_ac": [
{
"id": "NP_001269941",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269941",
"type": "external"
}
],
"gene_names_uniprotkb": "DEPTOR; DEPDC6",
"gene_names_refseq": "DEP.6; DEPDC6; DEPTOR; hDEPTOR",
"protein_names_uniprotkb": "DEP domain-containing mTOR-interacting protein; DEP domain-containing protein 6; hDEPTOR",
"protein_names_refseq": "DEP domain containing 6; DEP domain-containing mTOR-interacting protein isoform 2; DEP domain-containing mTOR-interacting protein; DEP domain-containing protein 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:64798)",
"pathway_count": 1,
"publication_count": 34,
"publication_id_list": "11230166;18491316;18767875;19446321;20858096;21643629;22017875;22017876;22017877;23186163;25936805;29382726;29485866;29557506;30080879;30429286;31848261;32488085;32897882;32938616;33110214;33691108;33865870;34519268;34519269;34634301;35051231;35216969;35580925;35923131;36284347;36548081;37054772;37469018",
"class_list": "",
"function": "DEPTOR as a novel prognostic marker inhibits the proliferation via deactivating mTOR signaling pathway in gastric cancer cells., [RefSeq, PubMed]; DEPTOR is a novel prognostic marker for differentiated thyroid carcinoma., [RefSeq, PubMed]; DEPTOR is highly overexpressed in a subset of multiple myelomas harboring cyclin D1/D3 or c-MAF/MAFB translocations., [RefSeq, PubMed]; DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR., [RefSeq, PubMed]; High expression levels of DEPTOR are predictive of response to thalidomide in myeloma., [RefSeq, PubMed]; Negative regulator of the mTORC1 and mTORC2 complexes: inhibits the protein kinase activity of MTOR, thereby inactivating both complexes (PubMed:19446321, PubMed:22017875, PubMed:22017876, PubMed:22017877, PubMed:25936805, PubMed:29382726, PubMed:34519268, PubMed:34519269). DEPTOR inhibits mTORC1 and mTORC2 to induce autophagy (PubMed:22017875, PubMed:22017876, PubMed:22017877). In contrast to AKT1S1/PRAS40, only partially inhibits mTORC1 activity (PubMed:34519268, PubMed:34519269)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer., [RefSeq, PubMed]; The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT phosphorylation in multiple myeloma cells, is dependent on ERK1-mediated phosphorylation., [RefSeq, PubMed]",
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"secondary_ac_list": "B2RCL9;B4DN97;E7EV87;Q96EQ1;Q9H0R7;Q9H894;Q9HA07",
"ec_number_list": [],
"go_molecular_function": "GO:0005096 GTPase activator activity;GO:0004860 protein kinase inhibitor activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0070300 phosphatidic acid binding;GO:0030291 protein serine/threonine kinase inhibitor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane",
"go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0006469 negative regulation of protein kinase activity;GO:0010508 positive regulation of autophagy;GO:0032007 negative regulation of TOR signaling",
"synthesized_glycan_count": 0,
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"record_id": "Q8TB45-1",
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"filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NV31-1",
"uniprot_id": [
{
"id": "IMP3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NV31",
"type": "external"
}
],
"mass": 21850.0,
"length": 184,
"protein_name": "U3 small nucleolar ribonucleoprotein protein IMP3",
"gene_name": "IMP3",
"organism": "Human",
"refseq_name": "U3 small nucleolar ribonucleoprotein IMP3",
"refseq_ac": [
{
"id": "NP_060755",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060755",
"type": "external"
}
],
"gene_names_uniprotkb": "IMP3; C15orf12; MRPS4",
"gene_names_refseq": "BRMS2; C15orf12; IMP3; MRPS4",
"protein_names_uniprotkb": "U3 small nucleolar ribonucleoprotein protein IMP3; BRMS2; U3 snoRNP protein IMP3",
"protein_names_refseq": "IMP3, U3 small nucleolar ribonucleoprotein, homolog; U3 small nucleolar ribonucleoprotein IMP3; U3 small nucleolar ribonucleoprotein protein IMP3; U3 snoRNP protein 3 homolog; U3 snoRNP protein IMP3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55272); (R-HSA-6790901); (R-HSA-6791226)",
"pathway_count": 3,
"publication_count": 155,
"publication_id_list": "10606270;11081632;11230166;11922599;11935223;11978965;12068309;12150911;12417735;12655004;15004565;15199136;16037817;16043514;16381836;16738141;16782898;17074750;17189298;17353269;17412707;17636026;18065403;18223334;18438418;18446792;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21209280;22072790;22190735;22195017;22424782;22898188;22916032;23391857;23439679;23481700;23482395;23783831;2388630;24029068;24086612;24366607;24424021;24550520;24714562;24715725;25411247;25525153;25576301;25645385;25653167;25851604;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26992070;27084949;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34154626;34171305;34211107;34405274;34509645;34516797;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;9211966;9482744;9512526",
"class_list": "",
"function": "Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing (PubMed:12655004). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed]; RNA-binding protein IMP3 is a novel regulator of MEK1/ERK signaling pathway in the progression of colorectal Cancer through the stabilization of MEKK1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B3KQ67;Q53G10",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0030515 snoRNA binding;GO:0019843 rRNA binding",
"go_cellular_component": "GO:0030684 preribosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0034457 Mpp10 complex",
"go_biological_process": "GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA",
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"hit_score": 15.6,
"record_id": "Q9NV31-1",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "K22O_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q01546",
"type": "external"
}
],
"mass": 65841.0,
"length": 638,
"protein_name": "Keratin, type II cytoskeletal 2 oral",
"gene_name": "KRT76",
"organism": "Human",
"refseq_name": "keratin, type II cytoskeletal 2 oral",
"refseq_ac": [
{
"id": "NP_056932",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056932",
"type": "external"
}
],
"gene_names_uniprotkb": "KRT76; KRT2B; KRT2P",
"gene_names_refseq": "HUMCYT2A; KRT2B; KRT2P; KRT76",
"protein_names_uniprotkb": "Keratin, type II cytoskeletal 2 oral; CK-2P; Cytokeratin-2P; K2P; K76; Keratin-76; Type-II keratin Kb9",
"protein_names_refseq": "CK-2P; K2P; K76; cytokeratin 2; cytokeratin-2P; keratin 2p; keratin 76, type II; keratin, type II cytoskeletal 2 oral; type-II keratin Kb9",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51350); (R-HSA-6805567); (R-HSA-6809371)",
"pathway_count": 3,
"publication_count": 64,
"publication_id_list": "10.1101/2023.09.13.557529;10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;1282112;12902340;15033990;15337775;15373777;15737194;15797384;15803139;16061697;16382671;16639001;1691188;1694855;16959974;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;29393594;29557506;30143634;31844290;34087483;34171305;35051231;35580925;37217939;37935063;38253038;38665916;7543090;8824274;8999895;9395522;9468612;9565599",
"class_list": "",
"function": "Data shows that immunomodulatory role of Keratin 76 in oral and gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; K2P2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies., [RefSeq, PubMed]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]., [RefSeq]; Probably contributes to terminal cornification., [UniProtKB, PubMed]",
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"secondary_ac_list": "B4DRR3;Q7Z795",
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"go_molecular_function": "GO:0030280 structural constituent of skin epidermis",
"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005882 intermediate filament;GO:0045095 keratin filament",
"go_biological_process": "GO:0031424 keratinization;GO:0007010 cytoskeleton organization;GO:0045109 intermediate filament organization",
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},
{
"uniprot_canonical_ac": "P18615-1",
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{
"id": "NELFE_HUMAN",
"url": "https://www.uniprot.org/uniprot/P18615",
"type": "external"
}
],
"mass": 43240.0,
"length": 380,
"protein_name": "Negative elongation factor E",
"gene_name": "NELFE",
"organism": "Human",
"refseq_name": "negative elongation factor E",
"refseq_ac": [
{
"id": "NP_002895",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002895",
"type": "external"
}
],
"gene_names_uniprotkb": "NELFE; RDBP; RD",
"gene_names_refseq": "D6S45; NELF-E; NELFE; RDBP; RDP; RD",
"protein_names_uniprotkb": "Negative elongation factor E; NELF-E; RNA-binding protein RD",
"protein_names_refseq": "RD RNA-binding protein; RNA-binding protein RD; major histocompatibility complex gene RD; negative elongation factor E; negative elongation factor polypeptide E; nuclear protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7936); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955)",
"pathway_count": 15,
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"publication_id_list": "10199401;10757782;10866664;10916156;10984493;11237011;11313498;11313499;11350971;11859374;11884399;11940650;11971958;11988847;12370301;12612062;12653964;12676794;14656967;14701750;15302935;15489290;15561718;15781865;16898873;16964243;17081983;17234882;17322306;17924679;18212344;18220336;18303858;18452278;18491316;18669648;18691976;18707149;18767875;19007248;1939271;19413330;19415658;19651622;19664994;19664995;19690332;19952111;20068231;20159561;20166139;20230923;2119325;21406692;22012619;22988298;23186163;23271734;23301498;23538671;23884411;24275569;24354960;2449431;24554720;24662513;24714562;24715725;25114211;25429106;25548167;25561469;25576301;25645385;25712099;25802875;2612324;26659056;26992070;27256882;27282391;27846572;2825027;28510447;28649982;28832583;28904123;29242379;29493099;29508533;29523821;29557506;29632046;29789417;30315122;30429286;30833945;31217245;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33717175;33912179;33981976;34019948;34087483;34171305;34185709;34229054;34561969;35041643;35051231;35254053;35580925;36010968;36284347;37117180;37938771;40596516;7660122;7660129;7660130;7853496;8370526;8373374;9063748;9450929;9489704;9765293;9857195",
"class_list": "",
"function": "(Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II., [UniProtKB, PubMed]; Dependency of NELF-E-SLUG-KAT2B epigenetic axis in breast cancer carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:10199401, PubMed:27256882). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:11940650, PubMed:12612062, PubMed:27256882). Provides the strongest RNA binding activity of the NELF complex and may initially recruit the NELF complex to RNA (PubMed:18303858, PubMed:27256882, PubMed:27282391)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genome-wide chromatin contacts of super-enhancer-associated lncRNA identify LINC01013 as a regulator of fibrosis in the aortic valve. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "A2BE08;B4DUN1;B4DYX9;Q5JP74;Q5JP75;Q96F56;Q9NPK2",
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"go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0032021 NELF complex",
"go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0034244 negative regulation of transcription elongation by RNA polymerase II;GO:0160239 transcription pausing by RNA polymerase II",
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},
{
"uniprot_canonical_ac": "Q9BZ71-1",
"uniprot_id": [
{
"id": "PITM3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BZ71",
"type": "external"
}
],
"mass": 106781.0,
"length": 974,
"protein_name": "Membrane-associated phosphatidylinositol transfer protein 3",
"gene_name": "PITPNM3",
"organism": "Human",
"refseq_name": "membrane-associated phosphatidylinositol transfer protein 3 isoform 1",
"refseq_ac": [
{
"id": "NP_112497",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_112497",
"type": "external"
}
],
"gene_names_uniprotkb": "PITPNM3; NIR1",
"gene_names_refseq": "ACKR6; CORD5; NIR1; PITPNM3; RDGBA3",
"protein_names_uniprotkb": "Membrane-associated phosphatidylinositol transfer protein 3; NIR-1; PITPnm 3; Phosphatidylinositol transfer protein, membrane-associated 3; Pyk2 N-terminal domain-interacting receptor 1",
"protein_names_refseq": "NIR-1; PITPnm 3; PYK2 N-terminal domain-interacting receptor 1; atypical chemokine receptor 6; cone rod dystrophy 5; membrane-associated phosphatidylinositol transfer protein 3 isoform 1; membrane-associated phosphatidylinositol transfer protein 3; phosphatidylinositol transfer protein, membrane-associated 3; retinal degeneration B alpha 3",
"tax_id": 9606,
"disease": "arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); cone-rod dystrophy 5 (Disease Ontology:DOID:0111010)",
"pathway": " (hsa:83394); (R-HSA-1483226)",
"pathway_count": 2,
"publication_count": 27,
"publication_id_list": "10022914;11237011;17377520;17924679;18188949;18669648;19651622;20590364;23186163;24275569;25887399;26028218;26449829;26756176;29557506;30429286;31955176;32641093;34087483;34171305;35041514;35051231;35580925;36284347;3718705;38253038;9407135",
"class_list": "",
"function": "CCL18 can increase the invasive ability of non-small cell lung cancer cells by binding to its receptor Nir1., [RefSeq, PubMed]; CCL18 enhances hepatocellular carcinoma (HCC) cell migration, invasion, and epithelial-mesenchymal transition (EMT) through the expression of PITPNM3 and the activation of the NF-kappaB signaling pathway., [RefSeq, PubMed]; CCL18-NIR1 promotes oral cancer cell growth and metastasis by activating the JAK2/STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions., [UniProtKB]; Chemokine CCL18 Promotes Phagocytosis Through Its Receptor CCR8 Rather than PITPNM3 in Human Microglial Cells., [RefSeq, PubMed]; Mitofusin-2 (Mfn-2) Might Have Anti-Cancer Effect through Interaction with Transcriptional Factor SP1 and Consequent Regulation on Phosphatidylinositol Transfer Protein 3 (PITPNM3) Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families., [RefSeq, PubMed]; Our finding on the first mutation in the human homologue of Drosophila rdgB indicates novel pathways and a potential important role of the PITPNM3 in mammalian phototransduction., [RefSeq, PubMed]; This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy., [RefSeq, PubMed]",
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"secondary_ac_list": "A1A5D0;F8WEW5;Q59GH9;Q9NPQ4",
"ec_number_list": [],
"go_molecular_function": "GO:0004620 phospholipase activity;GO:0005509 calcium ion binding;GO:0008289 lipid binding;GO:0030971 receptor tyrosine kinase binding;GO:0008526 phosphatidylinositol transfer activity",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0012505 endomembrane system;GO:0044297 cell body;GO:0042995 cell projection",
"go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process",
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},
{
"uniprot_canonical_ac": "Q8NEY8-1",
"uniprot_id": [
{
"id": "PPHLN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NEY8",
"type": "external"
}
],
"mass": 52737.0,
"length": 458,
"protein_name": "Periphilin-1",
"gene_name": "PPHLN1",
"organism": "Human",
"refseq_name": "periphilin-1 isoform 6",
"refseq_ac": [
{
"id": "NP_001137259",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137259",
"type": "external"
}
],
"gene_names_uniprotkb": "PPHLN1; HSPC206; HSPC232",
"gene_names_refseq": "CR; HSPC206; HSPC232; PPHLN1",
"protein_names_uniprotkb": "Periphilin-1; CDC7 expression repressor; CR; Gastric cancer antigen Ga50",
"protein_names_refseq": "CDC7 expression repressor; gastric cancer antigen Ga50; periphilin-1 isoform 6",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:51535); (R-HSA-9843970)",
"pathway_count": 2,
"publication_count": 118,
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"class_list": "",
"function": "CR (periphilin) retards S-phase progression by modifying expression of Cdc7 and other genes involved in progression of DNA replication, [RefSeq, PubMed]; Periphilin is potentially involved in epithelial differentiation and contributes to epidermal integrity and barrier formation, [RefSeq, PubMed]; Periphilin self-association underpins epigenetic silencing by the HUSH complex., [RefSeq, PubMed]; RNA-binding component of the HUSH complex, a multiprotein complex that mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements (PubMed:15474462, PubMed:17963697, PubMed:26022416, PubMed:32976585, PubMed:39658355). The HUSH complex mainly represses LINE-1 (L1) retrotransposons that are still capable of transposition (PubMed:32976585, PubMed:39658355). The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2, a chromatin remodeler that compacts chromatin (PubMed:26022416). The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). Within the HUSH complex, PPHLN1 acts as a mRNA-binding component, which specifically binds nascent transcripts of mobile genetic elements, enabling HUSH-dependent silencing of transcripts (PubMed:39658355). Contributes to the maintenance of the HUSH complex at chromatin (PubMed:26022416, PubMed:39013473). As part of the HUSH2 complex, promotes epigenetic repression of interferon-stimulated genes (PubMed:33144593, PubMed:39013473). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0000792 heterochromatin",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0031424 keratinization;GO:0045892 negative regulation of DNA-templated transcription;GO:0045814 negative regulation of gene expression, epigenetic;GO:0032480 negative regulation of type I interferon production",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q96C28",
"type": "external"
}
],
"mass": 43088.0,
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"protein_name": "Zinc finger protein 707",
"gene_name": "ZNF707",
"organism": "Human",
"refseq_name": "zinc finger protein 707 isoform a",
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{
"id": "NP_001094068",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094068",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF707",
"gene_names_refseq": "ZNF707",
"protein_names_uniprotkb": "Zinc finger protein 707",
"protein_names_refseq": "zinc finger protein 707 isoform a",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:286075); (R-HSA-212436)",
"pathway_count": 2,
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"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28218747;28832583;29242379;29437277;30315122;30410026;31844290;33298915;35051231;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
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"secondary_ac_list": "A8K317;B3KNY1;D3DWK7",
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"go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "P27449-1",
"uniprot_id": [
{
"id": "VATL_HUMAN",
"url": "https://www.uniprot.org/uniprot/P27449",
"type": "external"
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],
"mass": 15736.0,
"length": 155,
"protein_name": "V-type proton ATPase 16 kDa proteolipid subunit c",
"gene_name": "ATP6V0C",
"organism": "Human",
"refseq_name": "V-type proton ATPase 16 kDa proteolipid subunit c",
"refseq_ac": [
{
"id": "NP_001185498",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185498",
"type": "external"
}
],
"gene_names_uniprotkb": "ATP6V0C; ATP6C; ATP6L; ATPL",
"gene_names_refseq": "ATP6C; ATP6L; ATP6V0C; ATPL; EPEO3; VATL; VPPC; Vma3",
"protein_names_uniprotkb": "V-type proton ATPase 16 kDa proteolipid subunit c; V-ATPase 16 kDa proteolipid subunit c; Vacuolar proton pump 16 kDa proteolipid subunit c",
"protein_names_refseq": "ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c; H(+)-transporting two-sector ATPase, 16 kDa subunit; V-ATPase 16 kDa proteolipid subunit c; V-ATPase 16 kDa proteolipid subunit; V-type proton ATPase 16 kDa proteolipid subunit c; V-type proton ATPase 16 kDa proteolipid subunit; vacuolar ATP synthase 16 kDa proteolipid subunit; vacuolar H+ ATPase proton channel subunit; vacuolar proton pump 16 kDa proteolipid subunit c; vacuolar proton pump 16 kDa proteolipid subunit",
"tax_id": 9606,
"disease": "early-onset epilepsy 3 (Disease Ontology:DOID:0070472); intellectual disability (Disease Ontology:DOID:1059); epilepsy (Disease Ontology:DOID:1826); thyroid gland carcinoma (Disease Ontology:DOID:3963)",
"pathway": " (hsa:527); (R-HSA-1222556); (R-HSA-6798695); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)",
"pathway_count": 8,
"publication_count": 168,
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"class_list": "",
"function": "ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay., [RefSeq, PubMed]; ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy., [RefSeq, PubMed]; Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C expression and interacting with SNAREs. Publication Status: Online-Only, [RefSeq, PubMed]; Proton-conducting pore forming of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB]; Proton-conducting pore forming subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002, PubMed:36074901). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments, and in some cell types, it is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]., [RefSeq]",
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{
"id": "MRCKA_HUMAN",
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"protein_name": "Serine/threonine-protein kinase MRCK alpha",
"gene_name": "CDC42BPA",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase MRCK alpha isoform B",
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{
"id": "NP_003598",
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"gene_names_uniprotkb": "CDC42BPA; KIAA0451",
"gene_names_refseq": "CDC42BPA; MRCKA; MRCKalpha; MRCK; PK428",
"protein_names_uniprotkb": "Serine/threonine-protein kinase MRCK alpha; 2.7.11.1; CDC42-binding protein kinase alpha; DMPK-like alpha; MRCK alpha; Myotonic dystrophy kinase-related CDC42-binding kinase alpha; Myotonic dystrophy protein kinase-like alpha",
"protein_names_refseq": "CDC42 binding protein kinase alpha (DMPK-like); CDC42 binding protein kinase beta; myotonic dystrophy kinase-related CDC42-binding protein kinase alpha; myotonic dystrophy protein kinase-like alpha; ser-thr protein kinase PK428; ser-thr protein kinase related to the myotonic dystrophy protein kinase; serine/threonine-protein kinase MRCK alpha isoform B; serine/threonine-protein kinase MRCK alpha",
"tax_id": 9606,
"disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); azoospermia (Disease Ontology:DOID:14227)",
"pathway": " (hsa:8476); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013409)",
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{
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"mass": 56802.0,
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"protein_name": "Cyclin-dependent kinase 19",
"gene_name": "CDK19",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 19 isoform 2",
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"gene_names_uniprotkb": "CDK19; CDC2L6; CDK11; KIAA1028",
"gene_names_refseq": "CDC2L6; CDK11; CDK19; DEE87; EIEE87; bA346C16.3",
"protein_names_uniprotkb": "Cyclin-dependent kinase 19; 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",
"protein_names_refseq": "CDC2-related protein kinase 6; CDK8-like cyclin-dependent kinase; cell division cycle 2-like 6 (CDK8-like); cell division cycle 2-like protein kinase 6; cell division protein kinase 19; cyclin-dependent kinase (CDC2-like) 11; cyclin-dependent kinase 11; cyclin-dependent kinase 19 isoform 2; death-preventing kinase",
"tax_id": 9606,
"disease": "developmental and epileptic encephalopathy 87 (Disease Ontology:DOID:0112221)",
"pathway": " (hsa:23097); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)",
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"pathway": " (hsa:6737); (R-HSA-1834941); (R-HSA-3134975); (R-HSA-877300); (R-HSA-9755511); (R-HSA-983168)",
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{
"id": "2.3.2.23",
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{
"id": "2.3.2.26",
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{
"id": "2.3.2.-",
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},
{
"id": "2.7.7.84",
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{
"id": "1.8.4.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-",
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{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
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},
{
"id": "3.6.1.-",
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},
{
"id": "3.6.5.-",
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{
"id": "2.7.11.1",
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},
{
"id": "2.3.1.-",
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},
{
"id": "6.2.1.-",
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},
{
"id": "2.3.2.34",
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{
"id": "2.3.2.32",
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{
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{
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}
],
"go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle",
"go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0032092 positive regulation of protein binding;GO:0045087 innate immune response;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction",
"synthesized_glycan_count": 0,
"hit_score": 22.9,
"record_id": "P19474-1",
"record_type": "protein",
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},
{
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{
"id": "DOK4_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TEW6",
"type": "external"
}
],
"mass": 37028.0,
"length": 326,
"protein_name": "Docking protein 4",
"gene_name": "DOK4",
"organism": "Human",
"refseq_name": "docking protein 4 isoform 1",
"refseq_ac": [
{
"id": "NP_060580",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060580",
"type": "external"
}
],
"gene_names_uniprotkb": "DOK4",
"gene_names_refseq": "DOK4; IRS-5; IRS5",
"protein_names_uniprotkb": "Docking protein 4; Downstream of tyrosine kinase 4; IRS-5; IRS5; Insulin receptor substrate 5",
"protein_names_refseq": "docking protein 4 isoform 1; downstream of tyrosine kinase 4; insulin receptor substrate 5",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55715); (R-HSA-8853659)",
"pathway_count": 2,
"publication_count": 71,
"publication_id_list": "10448070;10995764;11000521;11002419;11237011;11237712;11360177;11390647;11470823;11491658;11886862;12242309;12595900;12730241;12771945;14766744;15044950;15286081;15569713;19664994;22982678;23481700;25576301;25880248;26811146;26992070;27846572;27862975;28218747;28649982;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29789417;30315122;30429286;30833945;31154438;31222486;31844290;31998317;32157095;32357974;32386480;32502341;32938616;33912179;34171305;34561969;35051231;35580925;36284347;7665556;8628282;8631863;8637703;8662982;8663426;8674117;9047384;9192684;9299438;9407096;9491986;9764818;9883723",
"class_list": "",
"function": "DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells., [UniProtKB]; DOK4 expression in human T cells has been demonstrated, and its genomic structure has been predicted., [RefSeq, PubMed]; IRS5/DOK4 and IRS6/DOK5 represent two new signaling proteins with potential roles in insulin and IGF-1 action, [RefSeq, PubMed]; Study of DOK4 gene expression and promoter methylation in sporadic breast cancer., [RefSeq, PubMed]; The current study have explored in more detail the structure and function of the Dok-4 PTB domain., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
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"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 0,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 0,
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"total_reported_s_glycosites": 0,
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"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 0,
"reported_phosphosites": 1,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 3,
"reported_interactions": 0,
"missing_score": 10000,
"biomarker_type": "",
"glycan_count": 0,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "O75209;Q9BTP2;Q9NVV3",
"ec_number_list": [],
"go_molecular_function": "GO:0035591 signaling adaptor activity",
"go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol",
"go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway",
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"hit_score": 7.2,
"record_id": "Q8TEW6-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000",
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},
{
"uniprot_canonical_ac": "P0CG47-1",
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{
"id": "UBB_HUMAN",
"url": "https://www.uniprot.org/uniprot/P0CG47",
"type": "external"
}
],
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"length": 229,
"protein_name": "Polyubiquitin-B",
"gene_name": "UBB",
"organism": "Human",
"refseq_name": "polyubiquitin-B precursor",
"refseq_ac": [
{
"id": "NP_001268645",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268645",
"type": "external"
}
],
"gene_names_uniprotkb": "UBB",
"gene_names_refseq": "HEL-S-50; UBB",
"protein_names_uniprotkb": "Polyubiquitin-B",
"protein_names_refseq": "epididymis secretory protein Li 50; polyubiquitin B; polyubiquitin-B precursor",
"tax_id": 9606,
"disease": "",
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"class_list": "",
"function": "Bioinformatics analysis of mRNA and miRNA microarray to identify the key miRNA-mRNA pairs in cisplatin-resistant ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of UBB potentiates SP1/VEGFA-dependent angiogenesis in clear cell renal cell carcinoma., [RefSeq, PubMed]; Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]; UBB(+1) reduces amyloid-beta cytotoxicity by activation of autophagy in yeast., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 0,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 0,
"reported_o_glycosites_with_glycan": 1,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 0,
"total_reported_o_glycosites": 1,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 0,
"total_o_glycosites": 1,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 1,
"reported_phosphosites": 2,
"reported_mutagensis": 11,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 0,
"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "P02248;P02249;P02250;P62988;Q29120;Q6LBL4;Q6LDU5;Q8WYN8;Q91887;Q91888;Q9BWD6;Q9BX98;Q9UEF2;Q9UEG1;Q9UEK8;Q9UPK7",
"ec_number_list": [],
"go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0003735 structural constituent of ribosome;GO:0031386 protein tag activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane",
"go_biological_process": "GO:0047497 mitochondrion transport along microtubule;GO:0051289 protein homotetramerization;GO:0048812 neuron projection morphogenesis;GO:0051881 regulation of mitochondrial membrane potential;GO:0016567 protein ubiquitination",
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"record_id": "P0CG47-1",
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},
{
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{
"id": "CDK12_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NYV4",
"type": "external"
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],
"mass": 164155.0,
"length": 1490,
"protein_name": "Cyclin-dependent kinase 12",
"gene_name": "CDK12",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 12 isoform 2",
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{
"id": "NP_055898",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055898",
"type": "external"
}
],
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"gene_names_refseq": "CDK12; CRK7; CRKRS; CRKR",
"protein_names_uniprotkb": "Cyclin-dependent kinase 12; 2.7.11.22; 2.7.11.23; CDC2-related protein kinase 7; Cdc2-related kinase, arginine/serine-rich; Cell division cycle 2-related protein kinase 7; Cell division protein kinase 12; CrkRS; hCDK12",
"protein_names_refseq": "CDC2-related protein kinase 7; Cdc2-related kinase, arginine/serine-rich; cell division cycle 2-related protein kinase 7; cell division protein kinase 12; cyclin-dependent kinase 12 isoform 2",
"tax_id": 9606,
"disease": "stomach cancer (Disease Ontology:DOID:10534); gastric adenocarcinoma (Disease Ontology:DOID:3717); hepatocellular carcinoma (Disease Ontology:DOID:684)",
"pathway": " (hsa:51755); (R-HSA-6796648)",
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"class_list": "",
"function": "Analysis of Breast Cancer Brain Metastases Reveals an Enrichment of Cyclin-Dependent Kinase 12 Structural Rearrangements in Human Epidermal Growth Factor Receptor 2-Positive Disease., [RefSeq, PubMed]; CDK12 is a promising therapeutic target for the transcription cycle and DNA damage response in metastatic osteosarcoma., [RefSeq, PubMed]; Cyclin-dependent kinase 12 deficiency reprogrammes cellular metabolism to alleviate ferroptosis potential and promote the progression of castration-resistant prostate cancer., [RefSeq, PubMed]; Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leading to affect the response to estrogen inhibitors., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of CDK12 with NXF1 is a new node for the linking mechanism between transcription and transportation of mRNA., [RefSeq, PubMed]; Structure-independent machine-learning predictions of the CDK12 interactome., [RefSeq, PubMed]",
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{
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"mass": 76779.0,
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"protein_name": "Rho GTPase-activating protein 22",
"gene_name": "ARHGAP22",
"organism": "Human",
"refseq_name": "rho GTPase-activating protein 22 isoform 1",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242953",
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],
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"protein_names_refseq": "rho GTPase-activating protein 22 isoform 1; rho GTPase-activating protein 22; rho-type GTPase-activating protein 22",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:58504); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)",
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"class_list": "",
"function": "DNA hypermethylation is associated with invasive phenotype of malignant melanoma., [RefSeq, PubMed]; Endosomal Localization of RacGAP Protein ARHGAP22 Regulates its GAP Activity in Human Melanoma Cells., [RefSeq, PubMed]; Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity)., [UniProtKB]; Rs10491034 of gene ARHGAP22 is associated with diabetic retinopathy incidence and severity among Chinese Hui population., [RefSeq, PubMed]; The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling., [RefSeq, PubMed]; There is a significant association between single nucleotide polymorphism in the ARHGAP22 gene and diabetic retinopathy risk in a Han Chinese population, [RefSeq, PubMed]; This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; We identified a genetic association for susceptibility to retinopathy in 5 novel chromosomal regions and PLXDC2 and ARHGAP22, the latter 2 of which are genes implicated in endothelial cell angiogenesis and increased capillary permeability., [RefSeq, PubMed]",
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"ec_number_list": [],
"go_molecular_function": "GO:0005096 GTPase activator activity",
"go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion",
"go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0051056 regulation of small GTPase mediated signal transduction",
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},
{
"uniprot_canonical_ac": "Q9BSQ5-1",
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{
"id": "CCM2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BSQ5",
"type": "external"
}
],
"mass": 48837.0,
"length": 444,
"protein_name": "Cerebral cavernous malformations 2 protein",
"gene_name": "CCM2",
"organism": "Human",
"refseq_name": "cerebral cavernous malformations 2 protein isoform 1",
"refseq_ac": [
{
"id": "NP_001025006",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025006",
"type": "external"
}
],
"gene_names_uniprotkb": "CCM2; C7orf22; PP10187",
"gene_names_refseq": "C7orf22; CCM2; OSM; PP10187",
"protein_names_uniprotkb": "Cerebral cavernous malformations 2 protein; Malcavernin",
"protein_names_refseq": "CCM2 scaffolding protein; cerebral cavernous malformation 2; cerebral cavernous malformations 2 protein isoform 1; cerebral cavernous malformations 2 protein; malcavernin; osmosensing scaffold for MEKK3",
"tax_id": 9606,
"disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); cerebral cavernous malformation 2 (Disease Ontology:DOID:0060670)",
"pathway": " (hsa:83605)",
"pathway_count": 1,
"publication_count": 48,
"publication_id_list": "11237011;14624391;14740320;15498874;18088087;18212344;18669648;19664994;20058876;20489202;22415356;22782892;23186163;23266514;23301498;24275569;24715725;25880248;26992070;28218747;28228285;28832583;28904123;29242379;29351928;29437277;29508533;29557506;30410026;30429286;31844290;32157095;32357974;32387766;32502341;32938616;33968037;34357683;34509645;35051231;35132862;35318648;35488064;35580925;36010968;38755314;40596516;40914422",
"class_list": "",
"function": "Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity)., [UniProtKB]; Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene., [RefSeq, PubMed]; Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations., [RefSeq, PubMed]; MGC4607 encodes a protein with a phosphotyrosine-binding domain that may be part of the complex pathway of integrin signaling that, when perturbed, causes abnormal vascular morphogenesis in the brain, leading to CCM formation., [RefSeq, PubMed]; This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]., [RefSeq]",
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"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0032991 protein-containing complex",
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},
{
"uniprot_canonical_ac": "Q7L2E3-1",
"uniprot_id": [
{
"id": "DHX30_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q7L2E3",
"type": "external"
}
],
"mass": 133938.0,
"length": 1194,
"protein_name": "ATP-dependent RNA helicase DHX30",
"gene_name": "DHX30",
"organism": "Human",
"refseq_name": "ATP-dependent RNA helicase DHX30 isoform 2",
"refseq_ac": [
{
"id": "NP_055781",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055781",
"type": "external"
}
],
"gene_names_uniprotkb": "DHX30; DDX30; KIAA0890",
"gene_names_refseq": "DDX30; DHX30; NEDMIAL; RETCOR",
"protein_names_uniprotkb": "ATP-dependent RNA helicase DHX30; 3.6.4.13; DEAH box protein 30",
"protein_names_refseq": "ATP-dependent RNA helicase DHX30 isoform 2; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30; DEAH (Asp-Glu-Ala-His) box helicase 30; DEAH (Asp-Glu-Ala-His) box polypeptide 30; DEAH box protein 30; DEAH-box helicase 30; putative ATP-dependent RNA helicase DHX30; retina co-repressor",
"tax_id": 9606,
"disease": "neurodevelopmental disorder with variable motor and speech impairment (Disease Ontology:DOID:0070756)",
"pathway": " (hsa:22907)",
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"publication_count": 74,
"publication_id_list": "11237011;16825194;17932509;18022663;18063578;18220336;18669648;19007248;19413330;20068231;23186163;23481700;24714562;24715725;25576301;25645385;25683715;25892735;26154972;26728094;26960196;26992070;28228285;28327206;28832583;28834231;28904123;29100085;29242379;29393594;29508533;29557506;29632711;29769354;30192525;30315122;30379171;30444036;31217245;31844290;32119511;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33717175;33936100;33968037;34087483;34171305;34357683;34509645;34561969;34725712;35051231;35083852;35318648;35494241;36010968;36163369;36215666;36241641;36284347;36581221;37094863;37938771;38665916;40914422",
"class_list": "",
"function": "Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates. Publication Status: Online-Only, [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]; DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. Review article, [RefSeq, PubMed]; Here, we provide evidence that overexpression of an RNA helicase named DHX30 enhances HIV-1 gene expression, but leads to the generation of viruses that package significantly low levels of viral RNA and exhibit severely decreased infectivity., [RefSeq, PubMed]; Identifies DHX30 as a nucleoid protein., [RefSeq, PubMed]; RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; RNA-dependent helicase. Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1. Associates with mitochondrial DNA. Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD., [UniProtKB, UniProtKB]",
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{
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{
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{
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{
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{
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{
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{
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{
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],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003725 double-stranded RNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol",
"go_biological_process": "GO:0007417 central nervous system development;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0042254 ribosome biogenesis",
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},
{
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{
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"type": "external"
}
],
"mass": 44124.0,
"length": 396,
"protein_name": "Protein DDI1 homolog 1",
"gene_name": "DDI1",
"organism": "Human",
"refseq_name": "protein DDI1 homolog 1",
"refseq_ac": [
{
"id": "NP_001001711",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001711",
"type": "external"
}
],
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:414301)",
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"publication_id_list": "19913121;20628086;21266539;29290612;29557506;29788202;33392160;35051231",
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"function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable aspartic protease (Probable). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI2, for cellular survival following replication stress. Together or redundantly with DDI2, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612)., [UniProtKB, PubMed, PubMed]; Using human neuroblastoma SH-SY5Y cells in culture, we also observed that human DDI1 is ubiquitinated by UBE3A, without being targeted for degradation, [RefSeq, PubMed]",
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"secondary_ac_list": "Q7Z4U6;Q8WTS3",
"ec_number_list": [],
"go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity",
"go_cellular_component": "GO:0005737 cytoplasm",
"go_biological_process": "GO:0031647 regulation of protein stability;GO:0010498 proteasomal protein catabolic process;GO:0097752 regulation of DNA stability;GO:0072711 cellular response to hydroxyurea",
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},
{
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{
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],
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"protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP5",
"gene_name": "FKBP5",
"organism": "Human",
"refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1",
"refseq_ac": [
{
"id": "NP_001139247",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139247",
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}
],
"gene_names_uniprotkb": "FKBP5; AIG6; FKBP51",
"gene_names_refseq": "AIG6; FKBP51; FKBP54; FKBP5; P54; PPIase; Ptg-10",
"protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP5; 5.2.1.8; 51 kDa FK506-binding protein; 51 kDa FKBP; 54 kDa progesterone receptor-associated immunophilin; Androgen-regulated protein 6; FF1 antigen; FK506-binding protein 5; FKBP-51; FKBP-5; FKBP54; HSP90-binding immunophilin; PPIase FKBP5; Rotamase; p54",
"protein_names_refseq": "51 kDa FK506-binding protein; 51 kDa FKBP; 54 kDa progesterone receptor-associated immunophilin; FF1 antigen; FK506 binding protein 5; FKBP-51; HSP90-binding immunophilin; PPIase FKBP5; T-cell FK506-binding protein; androgen-regulated protein 6; peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1; peptidyl-prolyl cis-trans isomerase FKBP5; peptidylprolyl cis-trans isomerase; rotamase",
"tax_id": 9606,
"disease": "alcohol dependence (Disease Ontology:DOID:0050741); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); major depressive disorder (Disease Ontology:DOID:1470); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); cocaine abuse (Disease Ontology:DOID:809); heroin dependence (Disease Ontology:DOID:9976)",
"pathway": " (hsa:2289); (R-HSA-3371497); (R-HSA-8939211); (R-HSA-9022699); (R-HSA-9909505)",
"pathway_count": 5,
"publication_count": 197,
"publication_id_list": "10207098;10485477;10588810;10747884;10822011;11150164;11162936;11250728;11350175;11478682;11589254;11701661;11751894;11795466;12118371;12538866;12672240;12781197;12943986;13486053;14605097;1493716;15094156;15159550;15302935;15381148;15591061;16403413;16809759;1720327;1730655;17525332;17591767;17615152;17804755;17873880;18057259;18215318;18243712;18254226;18451092;18635947;18669648;19274700;19359544;20006655;20038533;20068231;20072699;20353944;20379036;21158691;21183720;21376746;21700222;21796517;22011577;22266222;22318716;22393957;22433123;22645359;22791416;23186163;23301498;23375374;23403292;23481700;23684889;23850489;24012426;24071518;24150225;24288332;24694367;24715725;25303530;25424712;25500870;25576301;25597633;25880248;26024233;26073023;26101251;26153859;26154972;26203193;26214522;26313416;26375851;26610607;26768311;26992070;27397612;27462449;27663436;27846572;27862975;27920218;28083797;28147277;28301631;28363942;28514659;28755533;28832583;28919297;29242379;29393594;29493099;29557506;29632711;29786170;30169894;30197098;30224801;30315122;30379171;30429286;31110491;31141847;31154438;31217245;31434731;31455651;3167974;31731497;31826031;31844290;31848261;31937595;32016915;32157095;32320027;32350084;32357974;32387766;32448030;32502341;32544881;32897882;32938616;32982970;32983136;33043033;33141586;33214551;33298915;33592498;33633747;33912179;33968037;34019948;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36793726;37938771;38310934;38338761;38609904;38676353;40914422;6201744;6645495;6891012;7689695;7693698;7784095;7892243;7906860;7984152;8157723;8180109;8221895;8232319;8282004;8327492;8560673;8641283;9001212;9048584;9115298;9125197;9183567;9295332;9346945;9464360;9464361;9667968;9707442;9817749",
"class_list": "",
"function": "Differential impact of prenatal PTSD symptoms and preconception trauma exposure on placental NR3C1 and FKBP5 methylation., [RefSeq, PubMed]; HPA flexibility and FKBP5: promising physiological targets for conservation. Review article, [RefSeq, PubMed]; Immunophilin protein with PPIase and co-chaperone activities (PubMed:11350175). Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded (PubMed:12538866). Acts as a regulator of Akt/AKT1 activity by promoting the interaction between Akt/AKT1 and PHLPP1, thereby enhancing dephosphorylation and subsequent activation of Akt/AKT1 (PubMed:28147277, PubMed:28363942). Interacts with IKBKE and IKBKB which facilitates IKK complex assembly leading to increased IKBKE and IKBKB kinase activity, NF-kappa-B activation, and IFN production (PubMed:26101251, PubMed:31434731)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Methylation Patterns of the FKBP5 Gene in Association with Childhood Maltreatment and Depressive Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; The association of FKBP5 gene polymorphism with genetic susceptibility to depression and response to antidepressant treatment- a systematic review. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]., [RefSeq]",
"predicted_glycosites": 0,
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"binding_glycan_count": 0,
"secondary_ac_list": "F5H7R1;Q59EB8;Q5TGM6",
"ec_number_list": [
{
"id": "5.2.1.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8",
"type": "external"
},
{
"id": "2.7.11.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10",
"type": "external"
},
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "3.6.4.10",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10",
"type": "external"
},
{
"id": "2.7.11.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24",
"type": "external"
},
{
"id": "3.1.3.16",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16",
"type": "external"
},
{
"id": "5.3.99.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3",
"type": "external"
}
],
"go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0031072 heat shock protein binding;GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0097305 response to alcohol;GO:0042220 response to cocaine;GO:0006457 protein folding;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction",
"synthesized_glycan_count": 0,
"hit_score": 20.0,
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},
{
"uniprot_canonical_ac": "Q02363-1",
"uniprot_id": [
{
"id": "ID2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q02363",
"type": "external"
}
],
"mass": 14917.0,
"length": 134,
"protein_name": "DNA-binding protein inhibitor ID-2",
"gene_name": "ID2",
"organism": "Human",
"refseq_name": "DNA-binding protein inhibitor ID-2",
"refseq_ac": [
{
"id": "NP_002157",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002157",
"type": "external"
}
],
"gene_names_uniprotkb": "ID2; BHLHB26",
"gene_names_refseq": "GIG8; ID2A; ID2H; ID2; bHLHb26",
"protein_names_uniprotkb": "DNA-binding protein inhibitor ID-2; Class B basic helix-loop-helix protein 26; Inhibitor of DNA binding 2; Inhibitor of differentiation 2; bHLHb26",
"protein_names_refseq": "DNA-binding protein inhibitor ID-2; DNA-binding protein inhibitor ID2; cell growth-inhibiting gene 8; class B basic helix-loop-helix protein 26; helix-loop-helix protein ID2; inhibitor of DNA binding 2, HLH protein; inhibitor of DNA binding 2, dominant negative helix-loop-helix protein; inhibitor of differentiation 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:3398); (R-HSA-9031628)",
"pathway_count": 2,
"publication_count": 190,
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"class_list": "",
"function": "ID2 promotes tumor progression and metastasis in thyroid cancer., [RefSeq, PubMed]; ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Prediction of the binding location between the nuclear inhibitor of DNA binding and differentiation 2 (ID2) and HSPA5., [RefSeq, PubMed]; The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Restricts the CLOCK and BMAL1 localization to the cytoplasm. Plays a role in both the input and output pathways of the circadian clock: in the input component, is involved in modulating the magnitude of photic entrainment and in the output component, contributes to the regulation of a variety of liver clock-controlled genes involved in lipid metabolism., [UniProtKB, PubMed]",
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"go_molecular_function": "GO:0046983 protein dimerization activity;GO:0003714 transcription corepressor activity;GO:0044325 transmembrane transporter binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0140416 transcription regulator inhibitor activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000791 euchromatin",
"go_biological_process": "GO:0043353 enucleate erythrocyte differentiation;GO:0003166 bundle of His development;GO:0061031 endodermal digestive tract morphogenesis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription",
"synthesized_glycan_count": 0,
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"record_id": "Q02363-1",
"record_type": "protein",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q86Y97-1",
"uniprot_id": [
{
"id": "KMT5C_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86Y97",
"type": "external"
}
],
"mass": 52113.0,
"length": 462,
"protein_name": "Histone-lysine N-methyltransferase KMT5C",
"gene_name": "KMT5C",
"organism": "Human",
"refseq_name": "histone-lysine N-methyltransferase KMT5C isoform 1",
"refseq_ac": [
{
"id": "NP_116090",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_116090",
"type": "external"
}
],
"gene_names_uniprotkb": "KMT5C; PP7130; SUV420H2",
"gene_names_refseq": "KMT5C; SUV420H2; Suv4-20h2",
"protein_names_uniprotkb": "Histone-lysine N-methyltransferase KMT5C; 2.1.1.361; 2.1.1.362; Lysine N-methyltransferase 5C; Lysine-specific methyltransferase 5C; Su(var)4-20 homolog 2; Suppressor of variegation 4-20 homolog 2; Suv4-20h2; [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B; [histone H4]-lysine20 N-methyltransferase KMT5B",
"protein_names_refseq": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B; [histone H4]-lysine20 N-methyltransferase KMT5B; histone-lysine N-methyltransferase KMT5C isoform 1; histone-lysine N-methyltransferase KMT5C; histone-lysine N-methyltransferase SUV420H2; lysine (K)-specific methyltransferase 5C; lysine N-methyltransferase 5C; lysine-specific methyltransferase 5C; su(var)4-20 homolog 2; suppressor of variegation 4-20 homolog 2",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); liver benign neoplasm (Disease Ontology:DOID:916)",
"pathway": " (hsa:84787); (R-HSA-3214841)",
"pathway_count": 2,
"publication_count": 56,
"publication_id_list": "10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15498874;15964846;16118227;16199523;16292313;16322686;16519522;16682010;16805913;17021013;17500065;17544230;17672918;17707229;18172012;19690332;19808676;20068231;21131967;21196496;21779408;21832073;22099308;22939622;24396869;26992070;27846572;28063628;28114273;28832583;29242379;30379171;31844290;32157095;32387766;32897882;33912179;35051231;35404406;36402192;37119764;38426605;38473745",
"class_list": "",
"function": "Epigenetic regulation of DHRS2 by SUV420H2 inhibits cell apoptosis in renal cell carcinoma., [RefSeq, PubMed]; Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Impact of Histone Lysine Methyltransferase SUV4-20H2 on Cancer Onset and Progression with Therapeutic Potential. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Loss of KMT5C Promotes EGFR Inhibitor Resistance in NSCLC via LINC01510-Mediated Upregulation of MET., [RefSeq, PubMed]; Loss of SUV420H2-Dependent Chromatin Compaction Drives Right-Sided Colon Cancer Progression., [RefSeq, PubMed]; Lysine methyltransferase 5C increases the proliferation and metastatic abilities of clear cell renal cell carcinoma via aerobic glycolysis., [RefSeq, PubMed]; Occurrence of an unusual TG 3' splice site in intron 5, [RefSeq, PubMed]; SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]., [RefSeq]; The decrease in trimethylation of lysine 20 of histone H4 in breast cancer cells was accompanied by diminished expression of Suv4-20h2 histone methyltransferase., [RefSeq, PubMed]",
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"secondary_ac_list": "Q8WZ10;Q9BRZ6",
"ec_number_list": [
{
"id": "2.1.1.362",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.362",
"type": "external"
},
{
"id": "2.1.1.361",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361",
"type": "external"
},
{
"id": "2.1.1.354",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354",
"type": "external"
},
{
"id": "2.1.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-",
"type": "external"
},
{
"id": "2.1.1.359",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355",
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364",
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],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0046872 metal ion binding;GO:0042393 histone binding;GO:1904047 S-adenosyl-L-methionine binding;GO:0042799 histone H4K20 methyltransferase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000792 heterochromatin;GO:0000779 condensed chromosome, centromeric region;GO:0005721 pericentric heterochromatin",
"go_biological_process": "GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0032259 methylation;GO:0045830 positive regulation of isotype switching",
"synthesized_glycan_count": 0,
"hit_score": 5.9,
"record_id": "Q86Y97-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q96HC4-1",
"uniprot_id": [
{
"id": "PDLI5_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96HC4",
"type": "external"
}
],
"mass": 63945.0,
"length": 596,
"protein_name": "PDZ and LIM domain protein 5",
"gene_name": "PDLIM5",
"organism": "Human",
"refseq_name": "PDZ and LIM domain protein 5 isoform d",
"refseq_ac": [
{
"id": "NP_001011515",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011515",
"type": "external"
}
],
"gene_names_uniprotkb": "PDLIM5; ENH; L9",
"gene_names_refseq": "ENH1; ENH; L9; LIM; PDLIM5",
"protein_names_uniprotkb": "PDZ and LIM domain protein 5; Enigma homolog; Enigma-like PDZ and LIM domains protein",
"protein_names_refseq": "PDZ and LIM domain protein 5 isoform d; PDZ and LIM domain protein 5; enigma homolog; enigma-like LIM domain protein; enigma-like PDZ and LIM domains protein",
"tax_id": 9606,
"disease": "cardiomyopathy (Disease Ontology:DOID:0050700); myofibrillar myopathy 4 (Disease Ontology:DOID:0080095); dilated cardiomyopathy (Disease Ontology:DOID:12930); myopathy (Disease Ontology:DOID:423)",
"pathway": " (hsa:10611); (R-HSA-6794361)",
"pathway_count": 2,
"publication_count": 135,
"publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10429367;11237011;11604393;15334068;15346770;15540461;15555569;16044170;16213469;16242404;16549780;16624946;16846852;17081983;17897391;17924679;18669648;18812509;18829961;20064387;20064388;20068230;20068231;20120020;20519524;21282647;21406692;22223895;22661428;23186163;23271734;23481700;24275569;24715725;25114211;25378172;25502872;25576301;25813380;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29485866;29508533;29557506;29632711;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30620550;30779550;31373491;31492838;31611695;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32737199;32870666;32897882;32938616;32938750;33141586;33214551;33298915;33691108;33912179;33968037;33981976;34019948;34065225;34069539;34087483;34171305;34211107;34357683;34725712;34846842;35051231;35132862;35138101;35251023;35254053;35289036;35318648;35513511;35561310;35580925;36010968;36284347;37217939;37340703;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516;7695896;7736595;8576240;9069287;9808458;9927700",
"class_list": "",
"function": "ENH is a restraining factor of the oncogenic activity of inhibitor of DNA binding 2 proteins in neural tumors, [RefSeq, PubMed]; May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Isoforms lacking the LIM domains may negatively modulate the scaffolding activity of isoform 1. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May be required to restrain postsynaptic growth of excitatory synapses. Isoform 1, but not isoform 2, expression favors spine thinning and elongation., [UniProtKB, UniProtKB]; Mechanical Sensing Element PDLIM5 Promotes Osteogenesis of Human Fibroblasts by Affecting the Activity of Microfilaments. Publication Status: Online-Only, [RefSeq, PubMed]; PDLIM5 inhibits STUB1-mediated degradation of SMAD3 and promotes the migration and invasion of lung cancer cells., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]; Western blot studies of muscle tissues revealed that ENH4 is present only in skeletal muscle and there is a specific distribution of ENH members between skeletal and cardiac muscles, which is different in human and mouse., [RefSeq, PubMed]",
"predicted_glycosites": 0,
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"reported_phosphosites": 11,
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"reported_snv": 48,
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"missing_score": 0,
"biomarker_type": "",
"glycan_count": 4,
"disease_count": 4,
"glyco_site_count": 33,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K6F9;D6RB78;E9PBF5;O60705;Q56VN4;Q5UW38;Q8WVK0",
"ec_number_list": [],
"go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0005080 protein kinase C binding;GO:0098641 cadherin binding involved in cell-cell adhesion",
"go_cellular_component": "GO:0005829 cytosol;GO:0005912 adherens junction;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0016020 membrane",
"go_biological_process": "GO:0007507 heart development;GO:0030036 actin cytoskeleton organization;GO:0061049 cell growth involved in cardiac muscle cell development;GO:0051963 regulation of synapse assembly;GO:0061001 regulation of dendritic spine morphogenesis",
"synthesized_glycan_count": 0,
"hit_score": 17.3,
"record_id": "Q96HC4-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P40306-1",
"uniprot_id": [
{
"id": "PSB10_HUMAN",
"url": "https://www.uniprot.org/uniprot/P40306",
"type": "external"
}
],
"mass": 28936.0,
"length": 273,
"protein_name": "Proteasome subunit beta type-10",
"gene_name": "PSMB10",
"organism": "Human",
"refseq_name": "proteasome subunit beta type-10",
"refseq_ac": [
{
"id": "NP_002792",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002792",
"type": "external"
}
],
"gene_names_uniprotkb": "PSMB10; LMP10; MECL1",
"gene_names_refseq": "IMD121; LMP10; MECL1; PRAAS5; PSMB10; beta2i",
"protein_names_uniprotkb": "Proteasome subunit beta type-10; 3.4.25.1; Low molecular mass protein 10; Macropain subunit MECl-1; Multicatalytic endopeptidase complex subunit MECl-1; Proteasome MECl-1; Proteasome subunit beta-2i",
"protein_names_refseq": "low molecular mass protein 10; macropain subunit MECl-1; multicatalytic endopeptidase complex subunit MECl-1; proteasome (prosome, macropain) subunit, beta type, 10; proteasome MECl-1; proteasome catalytic subunit 2i; proteasome subunit MECL1; proteasome subunit beta 10; proteasome subunit beta 7i; proteasome subunit beta type-10; proteasome subunit beta-2i; proteasome subunit beta2i",
"tax_id": 9606,
"disease": "Omenn syndrome (Disease Ontology:DOID:0060010); proteosome-associated autoinflammatory syndrome 5 (Disease Ontology:DOID:0060919); immunodeficiency 121 (Disease Ontology:DOID:0061087)",
"pathway": " (hsa:5699); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-9907900); (R-HSA-9912633)",
"pathway_count": 5,
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"class_list": "",
"function": "The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides., [UniProtKB]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B2R5J4;Q5U098",
"ec_number_list": [
{
"id": "3.4.25.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1",
"type": "external"
}
],
"go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004298 threonine-type endopeptidase activity",
"go_cellular_component": "GO:0019774 proteasome core complex, beta-subunit complex;GO:1990111 spermatoproteasome complex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0000502 proteasome complex",
"go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process",
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},
{
"uniprot_canonical_ac": "Q8TCU6-1",
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{
"id": "PREX1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TCU6",
"type": "external"
}
],
"mass": 186203.0,
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"protein_name": "Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein",
"gene_name": "PREX1",
"organism": "Human",
"refseq_name": "",
"refseq_ac": [],
"gene_names_uniprotkb": "PREX1; KIAA1415",
"gene_names_refseq": "",
"protein_names_uniprotkb": "Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein; P-Rex1; PtdIns(3,4,5)-dependent Rac exchanger 1",
"protein_names_refseq": "",
"tax_id": 9606,
"disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); prostate cancer (Disease Ontology:DOID:10283)",
"pathway": " (hsa:57580); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423)",
"pathway_count": 13,
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"class_list": "",
"function": "Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils., [UniProtKB]",
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"go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030426 growth cone;GO:0043198 dendritic shaft;GO:0048471 perinuclear region of cytoplasm",
"go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0030335 positive regulation of cell migration;GO:0035556 intracellular signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0032007 negative regulation of TOR signaling",
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},
{
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{
"id": "R3GEF_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TBN0",
"type": "external"
}
],
"mass": 42637.0,
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"protein_name": "Guanine nucleotide exchange factor for Rab-3A",
"gene_name": "RAB3IL1",
"organism": "Human",
"refseq_name": "guanine nucleotide exchange factor for Rab-3A isoform 2",
"refseq_ac": [
{
"id": "NP_001258615",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258615",
"type": "external"
}
],
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"protein_names_refseq": "RAB3A interacting protein (rabin3)-like 1; guanine nucleotide exchange factor for Rab-3A isoform 2; guanine nucleotide exchange factor for Rab-3A; rab3A-interacting-like protein 1; rabin3-like 1",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:5866); (R-HSA-8876198)",
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"function": "Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B., [UniProtKB, PubMed]; Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics., [RefSeq, PubMed]; Intermediates in the guanine nucleotide exchange reaction of Rab8 protein catalyzed by guanine nucleotide exchange factors Rabin8 and GRAB., [RefSeq, PubMed]; This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]., [RefSeq]",
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},
{
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{
"id": "ZN230_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UIE0",
"type": "external"
}
],
"mass": 54542.0,
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"protein_name": "Zinc finger protein 230",
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"organism": "Human",
"refseq_name": "zinc finger protein 230",
"refseq_ac": [
{
"id": "NP_006291",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006291",
"type": "external"
}
],
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"gene_names_refseq": "FDZF2; ZNF230",
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"protein_names_refseq": "zinc finger protein 230; zinc finger protein FDZF2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:7773); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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{
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{
"id": "ZN394_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q53GI3",
"type": "external"
}
],
"mass": 64256.0,
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"protein_name": "Zinc finger protein 394",
"gene_name": "ZNF394",
"organism": "Human",
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"refseq_ac": [
{
"id": "NP_001332896",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001332896",
"type": "external"
}
],
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"protein_names_refseq": "zinc finger protein 394 isoform 2; zinc finger protein 99; zinc finger protein with KRAB and SCAN domains 14",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84124); (R-HSA-212436)",
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"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]; Overexpression of ZNF394 in the cell inhibits the transcriptional activities of c-Jun and AP-1 reporters., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]., [RefSeq]",
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},
{
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{
"id": "ZCHC7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N3Z6",
"type": "external"
}
],
"mass": 63052.0,
"length": 543,
"protein_name": "Zinc finger CCHC domain-containing protein 7",
"gene_name": "ZCCHC7",
"organism": "Human",
"refseq_name": "zinc finger CCHC domain-containing protein 7",
"refseq_ac": [
{
"id": "NP_001276048",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276048",
"type": "external"
}
],
"gene_names_uniprotkb": "ZCCHC7; HSPC086",
"gene_names_refseq": "AIR1; HSPC086; ZCCHC7",
"protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 7; TRAMP-like complex RNA-binding factor ZCCHC7",
"protein_names_refseq": "TRAMP-like complex RNA-binding factor ZCCHC7; zinc finger CCHC domain-containing protein 7; zinc finger, CCHC domain containing 7",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84186); (R-HSA-9930044)",
"pathway_count": 2,
"publication_count": 47,
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"class_list": "",
"function": "Data show that sequences 3' of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3' of FRG1B and LOC1499503., [RefSeq, PubMed]; We analyzed the interactions of the human TRAMP-like proteins, PAPD5, ZCCHC7, and MTR4, with the nuclear exosome. PAPD5 and ZCCHC7 exhibited mutual interactions in presence of the exosome catalytic subunit RRP6, whereas MTR4 was dispensable for their assembly, [RefSeq, PubMed]",
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"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0031499 TRAMP complex",
"go_biological_process": "GO:0071035 nuclear polyadenylation-dependent rRNA catabolic process;GO:0071038 TRAMP-dependent tRNA surveillance pathway;GO:0071036 nuclear polyadenylation-dependent snoRNA catabolic process;GO:0071037 nuclear polyadenylation-dependent snRNA catabolic process;GO:0071039 nuclear polyadenylation-dependent CUT catabolic process",
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},
{
"uniprot_canonical_ac": "Q8NEP9-1",
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{
"id": "ZN555_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NEP9",
"type": "external"
}
],
"mass": 73084.0,
"length": 628,
"protein_name": "Zinc finger protein 555",
"gene_name": "ZNF555",
"organism": "Human",
"refseq_name": "zinc finger protein 555 isoform 2",
"refseq_ac": [
{
"id": "NP_001166246",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166246",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF555",
"gene_names_refseq": "ZNF555",
"protein_names_uniprotkb": "Zinc finger protein 555",
"protein_names_refseq": "zinc finger protein 555 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:148254); (R-HSA-212436)",
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"class_list": "",
"function": "Identification of ZNF555 as a putative transcriptional factor highly expressed in human primary myoblasts that interacts with the beta-satellite repeats enhancer site and impacts the ANT1 promoter activity in facioscapulohumeral dystrophy myoblasts., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]",
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"secondary_ac_list": "A8KA89;K7EQM2;Q8NA46;Q96MP1",
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"go_cellular_component": "GO:0005634 nucleus",
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},
{
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{
"id": "ZN670_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BS34",
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}
],
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"protein_name": "Zinc finger protein 670",
"gene_name": "ZNF670",
"organism": "Human",
"refseq_name": "zinc finger protein 670 isoform 1",
"refseq_ac": [
{
"id": "NP_149990",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_149990",
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}
],
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"protein_names_refseq": "zinc finger protein 670 isoform 1",
"tax_id": 9606,
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"pathway": " (hsa:93474); (R-HSA-212436)",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific",
"go_cellular_component": "GO:0005634 nucleus",
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},
{
"uniprot_canonical_ac": "P86790-1",
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{
"id": "CCZ1B_HUMAN",
"url": "https://www.uniprot.org/uniprot/P86790",
"type": "external"
}
],
"mass": 55866.0,
"length": 482,
"protein_name": "Vacuolar fusion protein CCZ1 homolog B",
"gene_name": "CCZ1B; CCZ1",
"organism": "Human",
"refseq_name": "vacuolar fusion protein CCZ1 homolog B",
"refseq_ac": [
{
"id": "NP_932765",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_932765",
"type": "external"
}
],
"gene_names_uniprotkb": "CCZ1B; CCZ1; C7orf28B; CCZ1B",
"gene_names_refseq": "C7orf28B; CCZ1B; H_NH0577018.2",
"protein_names_uniprotkb": "Vacuolar fusion protein CCZ1 homolog B; Vacuolar fusion protein CCZ1 homolog-like",
"protein_names_refseq": "CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated; CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B; CCZ1 vacuolar protein trafficking and biogenesis associated B; CCZ1 vacuolar protein trafficking and biogenesis associated homolog B; H_DJ1163J12.2; vacuolar fusion protein CCZ1 homolog B",
"tax_id": 9606,
"disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)",
"pathway": " (hsa:221960); (hsa:51622); (R-HSA-8876198)",
"pathway_count": 3,
"publication_count": 221,
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"secondary_ac_list": "A2RU45;O95766;Q9UG65;Q9Y359",
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"go_cellular_component": "GO:0005765 lysosomal membrane;GO:0035658 Mon1-Ccz1 complex",
"go_biological_process": "GO:0007034 vacuolar transport;GO:0016192 vesicle-mediated transport",
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},
{
"uniprot_canonical_ac": "Q9HCZ1-1",
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{
"id": "ZN334_HUMAN",
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}
],
"mass": 79649.0,
"length": 680,
"protein_name": "Zinc finger protein 334",
"gene_name": "ZNF334",
"organism": "Human",
"refseq_name": "zinc finger protein 334 isoform a",
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{
"id": "NP_060572",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060572",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF334",
"gene_names_refseq": "ZNF334",
"protein_names_uniprotkb": "Zinc finger protein 334",
"protein_names_refseq": "zinc finger protein 334 isoform a",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55713); (R-HSA-212436)",
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"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25738173;29557506;30410026;33717175;34932366;35051231;35507080;35534462;35580925;36966142;37217939;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "DNA hypermethylation modification promotes the development of hepatocellular carcinoma by depressing the tumor suppressor gene ZNF334. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of ZNF334 promotes triple-negative breast carcinoma malignancy through the SFRP1/ Wnt/beta-catenin signaling axis. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results obtained in vitro for helper lymphocytes of healthy individuals seem to mimic the regulatory effect of TNFalpha on the expression of ZNF334 in the cells of RA patients, [RefSeq, PubMed]; Targeted DNA demethylation of the ZNF334 promoter inhibits colorectal cancer growth. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]",
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"secondary_ac_list": "Q5T6U2;Q9NVW4",
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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},
{
"uniprot_canonical_ac": "Q9UQ88-1",
"uniprot_id": [
{
"id": "CD11A_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UQ88",
"type": "external"
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],
"mass": 91362.0,
"length": 783,
"protein_name": "Cyclin-dependent kinase 11A",
"gene_name": "CDK11A",
"organism": "Human",
"refseq_name": "cyclin-dependent kinase 11A isoform 5",
"refseq_ac": [
{
"id": "NP_001300825",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300825",
"type": "external"
}
],
"gene_names_uniprotkb": "CDK11A; CDC2L2; CDC2L3; PITSLREB",
"gene_names_refseq": "CDC2L2; CDC2L3; CDK11-p110; CDK11-p46; CDK11-p58; CDK11A; PITSLRE; p58GTA",
"protein_names_uniprotkb": "Cyclin-dependent kinase 11A; 2.7.11.22; 2.7.11.23; Cell division cycle 2-like protein kinase 2; Cell division protein kinase 11A; Galactosyltransferase-associated protein kinase p58/GTA; PITSLRE serine/threonine-protein kinase CDC2L2",
"protein_names_refseq": "PITSLRE B; PITSLRE serine/threonine-protein kinase CDC2L2; cell division cycle 2-like 2 (PITSLRE proteins); cell division cycle 2-like protein kinase 2; cell division protein kinase 11A; cyclin-dependent kinase 11A isoform 5; galactosyltransferase-associated protein kinase p58/GTA",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:728642); (R-HSA-380270)",
"pathway_count": 2,
"publication_count": 60,
"publication_id_list": "10882096;11237011;11980906;12082095;12221128;12501247;12624090;16462731;18991276;23178491;24366607;24436071;24616531;24714562;25576301;26154972;27397612;27600516;28228285;28832583;28834231;28904123;29242379;29393594;29632711;29786170;30315122;30379171;30397120;30410026;31217245;31844290;32157095;32367068;32502341;32897882;32938616;32983136;33214551;33298915;33309857;33691108;33912179;33968037;33981976;34229054;34932366;35051231;35318648;35494241;35580925;36010968;36104565;36327972;38019613;38059508;40858114;7790358;8195233;9750192",
"class_list": "",
"function": "Cyclin-dependent protein kinase that acts as a regulator of transcription and pre-mRNA splicing (PubMed:12501247, PubMed:32367068, PubMed:36104565, PubMed:40858114). Acts as a key regulator of pre-mRNA splicing by mediating phosphorylation of SF3B1, enabling the association between SF3B1 and U5 and U6 snRNAs in the activated spliceosome, thereby promoting spliceosome assembly (PubMed:36104565, PubMed:38059508). Also acts as a regulator of transcription by phosphorylating 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:32367068, PubMed:40858114). Involved in replication-dependent transcription of histone genes: binds to histone genes and phosphorylates POLR2A at 'Ser-2' of the CTD to specifically control transcriptional elongation of histones and recruitment of 3'-end processing factors (PubMed:32367068). Part of a transcription checkpoint upstream of CDK9, which regulates promoter-proximal pausing by RNA polymerase II, a transcription halt following transcription initiation, but prior to elongation (PubMed:40858114). Probably regulates promoter-proximal pausing by mediating phosphorylation of POLR2A at 'Ser-2' of the CTD (PubMed:40858114)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110)., [RefSeq, PubMed]; Isoform expressed in a non-cell cycle-dependent manner., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Isoform specifically expressed during the G2-M phases of the cell cycle (PubMed:12082095). Phosphorylates 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:38019613). Promotes centromeric transcription to maintain centromeric cohesion during mitosis (PubMed:24436071, PubMed:38019613)., [UniProtKB, PubMed, PubMed, PubMed]; Isoform specifically expressed during the G2-M phases of the cell cycle. Phosphorylates 'Ser-2' of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A. Promotes centromeric transcription to maintain centromeric cohesion during mitosis., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]",
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{
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{
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"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0000775 chromosome, centromeric region;GO:0005694 chromosome",
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"tax_id": 9606,
"disease": "myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930)",
"pathway": " (hsa:60677)",
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"class_list": "",
"function": "Analysis of common variants near the corresponding genes implicated the RNA binding protein CELF6 in autism risk, [RefSeq, PubMed]; CELF6 is a member of the CELF family of RNA-binding proteins that regulates muscle-specific splicing enhancer-dependent alternative splicing, [RefSeq, PubMed]; CELF6 modulates triple-negative breast cancer progression by regulating the stability of FBP1 mRNA., [RefSeq, PubMed]; CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3' UTR Elements., [RefSeq, PubMed]; Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]., [RefSeq]; RNA-binding protein CELF6 is cell cycle regulated and controls cancer cell proliferation by stabilizing p21. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein CELF6 modulates transcription and splicing levels of genes associated with tumorigenesis in lung cancer A549 cells. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA., [UniProtKB, PubMed]; The natural compound neobractatin inhibits cell proliferation mainly by regulating the RNA binding protein CELF6. Publication Status: Online-Only, [RefSeq, PubMed]",
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},
{
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],
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"protein_name": "Coiled-coil domain-containing protein 136",
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{
"id": "NP_001188301",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188301",
"type": "external"
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],
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"protein_names_refseq": "coiled-coil domain-containing protein 136 isoform 2; coiled-coil domain-containing protein 136; nasopharyngeal carcinoma-associated gene 6 protein",
"tax_id": 9606,
"disease": "",
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"class_list": "",
"function": "CCDC136 locus showed association with a comparable reading/language measure., [RefSeq, PubMed]; Data suggest that NAG6 may represent a candidate tumor suppressor gene at 7q31-32 loci associated with gastric carcinoma., [RefSeq, PubMed]; May play a role in acrosome formation in spermatogenesis and in fertilization., [UniProtKB, UniProtKB]; Missense variant in CCDC136 gene is associated with reading disability., [RefSeq, PubMed]",
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"go_biological_process": "GO:0007283 spermatogenesis;GO:0007338 single fertilization;GO:0001675 acrosome assembly",
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},
{
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],
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"protein_name": "Uncharacterized protein C6orf136",
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{
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],
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"protein_name": "Rho GTPase-activating protein 1",
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],
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"tax_id": 9606,
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"pathway": " (hsa:392); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-9696270)",
"pathway_count": 14,
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"class_list": "",
"function": "Early gastric cancer with RhoGAP fusion is linked to frequent nodal metastasis and a part of microtubular-mucocellular histology., [RefSeq, PubMed]; GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate., [UniProtKB]; Structural basis for the distinct roles of non-conserved Pro116 and conserved Tyr124 of BCH domain of yeast p50RhoGAP. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of ARHGAP1 in Rho GTPase Inactivation during Metastasizing of Breast Cancer Cell Line MCF-7 after Treatment with Doxorubicin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]., [RefSeq]",
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"secondary_ac_list": "D3DQQ6",
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"go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0045296 cadherin binding;GO:0031267 small GTPase binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0016197 endosomal transport;GO:0033572 transferrin transport",
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},
{
"uniprot_canonical_ac": "Q96JP9-1",
"uniprot_id": [
{
"id": "CDHR1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96JP9",
"type": "external"
}
],
"mass": 93595.0,
"length": 859,
"protein_name": "Cadherin-related family member 1",
"gene_name": "CDHR1",
"organism": "Human",
"refseq_name": "cadherin-related family member 1 isoform 2 precursor",
"refseq_ac": [
{
"id": "NP_001165442",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165442",
"type": "external"
}
],
"gene_names_uniprotkb": "CDHR1; KIAA1775; PCDH21; PRCAD",
"gene_names_refseq": "CDHR1; CORD15; PCDH21; PRCAD; RP65",
"protein_names_uniprotkb": "Cadherin-related family member 1; Photoreceptor cadherin; Protocadherin-21; prCAD",
"protein_names_refseq": "MT-protocadherin; cadherin-related family member 1 isoform 2 precursor; photoreceptor cadherin; protocadherin-21",
"tax_id": 9606,
"disease": "cone-rod dystrophy 15 (Disease Ontology:DOID:0111021)",
"pathway": " (hsa:92211)",
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"publication_id_list": "10.1101/2023.09.13.557529;11237011;11597768;16288196;18654668;20087419;20805371;23090970;24190977;26350383;26992070;28834231;28965847;29557506;30120214;32277948;32350084;32387766;32681094;33964272;34229535;35051231;35627310;37074911",
"class_list": "",
"function": "A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy., [RefSeq, PubMed]; A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy., [RefSeq, PubMed]; Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Publication Status: Online-Only, [RefSeq, PubMed]; Deep phenotyping of the Cdhr1(-/-) mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration., [RefSeq, PubMed]; Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa., [RefSeq, PubMed]; PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity)., [UniProtKB]; This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]., [RefSeq]; To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease, autosomal recessive cone-rod dystrophy., [RefSeq, PubMed]",
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"missing_score": 10000,
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"secondary_ac_list": "Q69YZ8;Q8IXY5",
"ec_number_list": [],
"go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0042622 photoreceptor outer segment membrane;GO:0016020 membrane",
"go_biological_process": "GO:0007155 cell adhesion;GO:0045494 photoreceptor cell maintenance;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0035845 photoreceptor cell outer segment organization;GO:0008594 photoreceptor cell morphogenesis",
"synthesized_glycan_count": 0,
"hit_score": 3.2,
"record_id": "Q96JP9-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q8NEM8-1",
"uniprot_id": [
{
"id": "CBPC3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NEM8",
"type": "external"
}
],
"mass": 116011.0,
"length": 1001,
"protein_name": "Cytosolic carboxypeptidase 3",
"gene_name": "AGBL3",
"organism": "Human",
"refseq_name": "cytosolic carboxypeptidase 3 isoform a",
"refseq_ac": [
{
"id": "NP_848658",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_848658",
"type": "external"
}
],
"gene_names_uniprotkb": "AGBL3; CCP3",
"gene_names_refseq": "AGBL3; CCP3",
"protein_names_uniprotkb": "Cytosolic carboxypeptidase 3; 3.4.17.-; ATP/GTP-binding protein-like 3; Protein deglutamylase CCP3",
"protein_names_refseq": "ATP/GTP binding protein like 3; cytosolic carboxypeptidase 3 isoform a; cytosolic carboxypeptidase 3; protein deglutamylase CCP3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:340351); (R-HSA-8955332)",
"pathway_count": 2,
"publication_count": 38,
"publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;24715725;25103237;25468068;25957412;26992070;28228285;28832583;29146868;29242379;29508533;29557506;30379171;30429286;30833945;31154438;31844290;31848261;32157095;34171305;34932366;35051231;35254053;37938771;7452228",
"class_list": "",
"function": "Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK. May catalyze the hydrolysis of aspartate from the carboxy-terminus of target proteins. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of target proteins., [UniProtKB, UniProtKB]; Metallocarboxypeptidase that mediates tubulin deglutamylation., [UniProtKB, PubMed]",
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"secondary_ac_list": "B7Z827;Q9H965",
"ec_number_list": [
{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "3.4.17.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-",
"type": "external"
},
{
"id": "3.4.17.24",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24",
"type": "external"
}
],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0005814 centriole",
"go_biological_process": "GO:0006508 proteolysis;GO:0035610 protein side chain deglutamylation",
"synthesized_glycan_count": 0,
"hit_score": 4.2,
"record_id": "Q8NEM8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UBI4-1",
"uniprot_id": [
{
"id": "STML1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UBI4",
"type": "external"
}
],
"mass": 42968.0,
"length": 398,
"protein_name": "Stomatin-like protein 1",
"gene_name": "STOML1",
"organism": "Human",
"refseq_name": "stomatin-like protein 1 isoform 6",
"refseq_ac": [
{
"id": "NP_001243605",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243605",
"type": "external"
}
],
"gene_names_uniprotkb": "STOML1; MSTP019; SLP1; UNC24",
"gene_names_refseq": "SLP-1; STOML1; STORP; hUNC-24",
"protein_names_uniprotkb": "Stomatin-like protein 1; EPB72-like protein 1; Protein unc-24 homolog; SLP-1; STORP; Stomatin-related protein",
"protein_names_refseq": "EPB72-like 1; EPB72-like protein 1; protein unc-24 homolog; stomatin (EBP72)-like 1; stomatin (EPB72)-like 1; stomatin-like protein 1 isoform 6; stomatin-like protein 1; stomatin-related protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:9399)",
"pathway_count": 1,
"publication_count": 35,
"publication_id_list": "10997330;11237011;16303743;19696025;21501885;23082202;23186163;23481700;24366607;25418920;25505266;26811146;26992070;27862975;28218747;28228285;28904123;29393594;29437277;29557506;30315122;30833945;31844290;31848261;32350084;32357974;32502341;32938616;33298915;33592498;33968037;33981976;34171305;35051231;9931417",
"class_list": "",
"function": "May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202)., [UniProtKB, PubMed, UniProtKB, PubMed]; Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes, [RefSeq, PubMed]; [review] Stomatin family member STOML1 is oligomeric; it mostly localizes to membrane domains and has been shown to modulate ion channel activity. Review article, [RefSeq, PubMed]",
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"glyco_site_count": 0,
"binding_glycan_count": 0,
"secondary_ac_list": "B3KQN0;B4DUU5;B4DXM9;E7ESC0;H3BRP3;O95675;Q4PNR4;Q6FGL8;Q8WYI7;Q9UMB9;Q9UMC0;Q9Y6H9",
"ec_number_list": [],
"go_molecular_function": "GO:0008200 ion channel inhibitor activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0031902 late endosome membrane",
"go_biological_process": "GO:0006869 lipid transport",
"synthesized_glycan_count": 0,
"hit_score": 3.6,
"record_id": "Q9UBI4-1",
"record_type": "protein",
"filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P01024-1",
"uniprot_id": [
{
"id": "CO3_HUMAN",
"url": "https://www.uniprot.org/uniprot/P01024",
"type": "external"
}
],
"mass": 187148.0,
"length": 1663,
"protein_name": "Complement C3",
"gene_name": "C3",
"organism": "Human",
"refseq_name": "complement C3 preproprotein",
"refseq_ac": [
{
"id": "NP_000055",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055",
"type": "external"
}
],
"gene_names_uniprotkb": "C3; CPAMD1",
"gene_names_refseq": "AHUS5; ARMD9; ASP; C3a; C3b; C3; CPAMD1; HEL-S-62p",
"protein_names_uniprotkb": "Complement C3; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; C3adesArg; Complement C3b-alpha' chain",
"protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; C3a anaphylatoxin; acylation-stimulating protein cleavage product; complement C3 preproprotein; complement component 3; complement component C3a; complement component C3b; epididymis secretory sperm binding protein Li 62p; prepro-C3",
"tax_id": 9606,
"disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); lupus nephritis (Disease Ontology:DOID:0080162); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); COVID-19 (Disease Ontology:DOID:0080600); erythema nodosum (Disease Ontology:DOID:0080750); age related macular degeneration 7 (Disease Ontology:DOID:0110019); age related macular degeneration 9 (Disease Ontology:DOID:0110021); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); dry eye syndrome (Disease Ontology:DOID:10140); silicosis (Disease Ontology:DOID:10325); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); lepromatous leprosy (Disease Ontology:DOID:10887); sickle cell anemia (Disease Ontology:DOID:10923); membranous glomerulonephritis (Disease Ontology:DOID:10976); pneumocystosis (Disease Ontology:DOID:11339); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); factor VIII deficiency (Disease Ontology:DOID:12134); neurodegenerative disease (Disease Ontology:DOID:1289); pulmonary sarcoidosis (Disease Ontology:DOID:13406); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); anterior uveitis (Disease Ontology:DOID:1407); boutonneuse fever (Disease Ontology:DOID:14095); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); atopic dermatitis (Disease Ontology:DOID:3310); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); mood disorder (Disease Ontology:DOID:3324); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); arteriolosclerosis (Disease Ontology:DOID:5162); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); conjunctivitis (Disease Ontology:DOID:6195); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); complement component 3 deficiency (Disease Ontology:DOID:8354); retinal degeneration (Disease Ontology:DOID:8466); systemic lupus erythematosus (Disease Ontology:DOID:9074); ocular hypertension (Disease Ontology:DOID:9282); acute myocardial infarction (Disease Ontology:DOID:9408); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); atypical hemolytic-uremic syndrome with C3 anomaly (MONDO:MONDO:0013043)",
"pathway": " (hsa:718); (R-HSA-173736); (R-HSA-174577); (R-HSA-198933); (R-HSA-375276); (R-HSA-381426); (R-HSA-418594); (R-HSA-6798695); (R-HSA-8957275); (R-HSA-9660826); (R-HSA-977606)",
"pathway_count": 11,
"publication_count": 484,
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"class_list": "",
"function": "A peptide (C3a) derived from the complement C3 protein has antimicrobial activity against E. coli, P. aeruginosa, E. faecalis, and C. albicans., [RefSeq, PubMed]; Acts as a chemoattractant for neutrophils in chronic inflammation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Adipogenic hormone that stimulates triglyceride synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial triglyceride clearance. Appears to stimulate triglyceride synthesis via activation of the PLC, MAPK and AKT signaling pathways. Acts by binding to its receptor, C5AR2, activating G protein-coupled receptor signaling, promoting the phosphorylation, ARRB2-mediated internalization and endocytosis of C5AR2. In contrast to C3a anaphylatoxin peptide, does not show pro-inflammatory activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Complement 3a induces the synapse loss via C3aR in mitochondria-dependent NLRP3 activating mechanisms during the development and progression of Alzheimer's disease. Review article, [RefSeq, PubMed]; Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]., [RefSeq]; Mediator of local inflammatory process released following cleavage by C3 convertase (PubMed:6968751, PubMed:37169960, PubMed:37852260). Acts by binding to its receptor, C3AR1, activating G protein-coupled receptor signaling, promoting the phosphorylation, ARRB2-mediated internalization and endocytosis of C3AR1 (PubMed:8702752, PubMed:37169960, PubMed:37852260). C3a anaphylatoxin stimulates the activation of immune cells such as mast cells and basophilic leukocytes to release inflammation agents, such as cytokines, chemokines and histamine, which promote inflammation development (PubMed:23383423). Also acts as potent chemoattractant for the migration of macrophages and neutrophils to the inflamed tissues, resulting in neutralization of the inflammatory triggers by multiple ways, such as phagocytosis and generation of reactive oxidants (PubMed:23383423, PubMed:342601, PubMed:5778786)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediator of local inflammatory process released following cleavage by C3 convertase. Acts by binding to its receptor, C3AR1, activating G protein-coupled receptor signaling, promoting the phosphorylation, ARRB2-mediated internalization and endocytosis of C3AR1. C3a anaphylatoxin stimulates the activation of immune cells such as mast cells and basophilic leukocytes to release inflammation agents, such as cytokines, chemokines and histamine, which promote inflammation development. Also acts as potent chemoattractant for the migration of macrophages and neutrophils to the inflamed tissues, resulting in neutralization of the inflammatory triggers by multiple ways, such as phagocytosis and generation of reactive oxidants., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Non-enzymatic component of C5 convertase (PubMed:28264884, PubMed:31507604, PubMed:3653927, PubMed:3897448). Generated following cleavage by C3 convertase, it covalently attaches to the surface of pathogens, where it acts as an opsonin that marks the surface of antigens for removal (PubMed:28264884, PubMed:31507604, PubMed:3653927, PubMed:3897448, PubMed:833545, PubMed:8349625). Complement C3b binds covalently via its reactive thioester, to cell surface carbohydrates or immune aggregates (PubMed:6903192). Together with complement C4b, it then recruits the serine protease complement C2b to form the C5 convertase, which cleaves and activate C5, the next component of the complement pathways (PubMed:12878586, PubMed:18204047, PubMed:2387864). In the alternative complement pathway, recruits the serine protease CFB to form the C5 convertase that cleaves and activates C5 (PubMed:624565, PubMed:6554279)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Non-enzymatic component of C5 convertase. Generated following cleavage by C3 convertase, it covalently attaches to the surface of pathogens, where it acts as an opsonin that marks the surface of antigens for removal. Complement C3b binds covalently via its reactive thioester, to cell surface carbohydrates or immune aggregates. Together with complement C4b, it then recruits the serine protease complement C2b to form the C5 convertase, which cleaves and activate C5, the next component of the complement pathways. In the alternative complement pathway, recruits the serine protease CFB to form the C5 convertase that cleaves and activates C5., [UniProtKB, UniProtKB, UniProtKB]; Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
"predicted_glycosites": 2,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 2,
"predicted_c_glycosites": 0,
"predicted_s_glycosites": 0,
"mined_glycosites": 0,
"mined_n_glycosites": 0,
"mined_o_glycosites": 0,
"mined_c_glycosites": 0,
"mined_s_glycosites": 0,
"reported_n_glycosites": 3,
"reported_o_glycosites": 0,
"reported_c_glycosites": 0,
"reported_s_glycosites": 0,
"reported_n_glycosites_with_glycan": 4,
"reported_o_glycosites_with_glycan": 2,
"reported_c_glycosites_with_glycan": 0,
"reported_s_glycosites_with_glycan": 0,
"total_reported_n_glycosites": 4,
"total_reported_o_glycosites": 2,
"total_reported_c_glycosites": 0,
"total_reported_s_glycosites": 0,
"total_n_glycosites": 4,
"total_o_glycosites": 2,
"total_c_glycosites": 0,
"total_s_glycosites": 0,
"reported_fully_resolved_glycans": 7,
"reported_phosphosites": 13,
"reported_mutagensis": 18,
"reported_glycation": 0,
"reported_snv": 56,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "prognostic; diagnostic",
"glycan_count": 98,
"disease_count": 61,
"glyco_site_count": 6,
"binding_glycan_count": 0,
"secondary_ac_list": "A7E236",
"ec_number_list": [],
"go_molecular_function": "GO:0005102 signaling receptor binding;GO:0004866 endopeptidase inhibitor activity;GO:0048018 receptor ligand activity;GO:0031715 C5L2 anaphylatoxin chemotactic receptor binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface",
"go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0001934 positive regulation of protein phosphorylation;GO:0006631 fatty acid metabolic process;GO:0006954 inflammatory response;GO:0006955 immune response",
"synthesized_glycan_count": 0,
"hit_score": 58.9,
"record_id": "P01024-1",
"record_type": "protein",
"filter_code": "1001000.1100111.010000.000000000001000000.1100000001001.101.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P46779-1",
"uniprot_id": [
{
"id": "RL28_HUMAN",
"url": "https://www.uniprot.org/uniprot/P46779",
"type": "external"
}
],
"mass": 15748.0,
"length": 137,
"protein_name": "Large ribosomal subunit protein eL28",
"gene_name": "RPL28",
"organism": "Human",
"refseq_name": "large ribosomal subunit protein eL28 isoform 2",
"refseq_ac": [
{
"id": "NP_000982",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000982",
"type": "external"
}
],
"gene_names_uniprotkb": "RPL28",
"gene_names_refseq": "L28; RPL28; eL28",
"protein_names_uniprotkb": "Large ribosomal subunit protein eL28; 60S ribosomal protein L28",
"protein_names_refseq": "60S ribosomal protein L28; large ribosomal subunit protein eL28 isoform 2; large ribosomal subunit protein eL28",
"tax_id": 9606,
"disease": "middle cerebral artery infarction (Disease Ontology:DOID:3525)",
"pathway": " (hsa:6158); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)",
"pathway_count": 17,
"publication_count": 297,
"publication_id_list": "10.1101/2023.09.13.557529;10358005;10513815;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17308301;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18160138;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19007248;19060897;19106111;19150429;1922338;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22190735;22195017;22223895;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24352655;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25525153;25576301;25578875;25645385;25969445;26154972;26237581;26375851;26552660;26728094;26758079;26811146;26929215;26992070;27090790;27110896;27397612;27452731;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28352266;28649982;28685749;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30244831;30293783;30315122;30379171;30429286;30444036;30484775;30779550;30804176;30833945;31011209;31154438;31217245;31611695;31717259;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32162841;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33406423;33592498;33633747;33691108;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34725712;35051231;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36581221;37676773;37938771;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6901506;7772601;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840",
"class_list": "",
"function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]., [RefSeq]",
"predicted_glycosites": 0,
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"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0030425 dendrite",
"go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation",
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},
{
"uniprot_canonical_ac": "Q96M34-1",
"uniprot_id": [
{
"id": "TEX55_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96M34",
"type": "external"
}
],
"mass": 60162.0,
"length": 536,
"protein_name": "Testis-specific expressed protein 55",
"gene_name": "TEX55",
"organism": "Human",
"refseq_name": "testis-specific expressed protein 55",
"refseq_ac": [
{
"id": "NP_689752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_689752",
"type": "external"
}
],
"gene_names_uniprotkb": "TEX55; C3orf30; TSCPA",
"gene_names_refseq": "C3orf30; TEX55; TSCPA",
"protein_names_uniprotkb": "Testis-specific expressed protein 55; Testis-specific conserved, cAMP-dependent type II PK-anchoring protein",
"protein_names_refseq": "Testis-specific conserved, cAMP-dependent type II PK anchoring protein; testis-specific expressed protein 55; uncharacterized protein C3orf30",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:152405)",
"pathway_count": 1,
"publication_count": 5,
"publication_id_list": "11237011;19821082;30379171;31429579;31844290",
"class_list": "",
"function": "TSCPA was expressed specifically in mouse and human testis and might play an important role in spermatogenesis., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum",
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},
{
"uniprot_canonical_ac": "Q4G0J3-1",
"uniprot_id": [
{
"id": "LARP7_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q4G0J3",
"type": "external"
}
],
"mass": 66899.0,
"length": 582,
"protein_name": "La-related protein 7",
"gene_name": "LARP7",
"organism": "Human",
"refseq_name": "la-related protein 7 isoform 1",
"refseq_ac": [
{
"id": "NP_056269",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056269",
"type": "external"
}
],
"gene_names_uniprotkb": "LARP7; HDCMA18P",
"gene_names_refseq": "ALAZS; HDCMA18P; LARP7; PIP7S; hLARP7",
"protein_names_uniprotkb": "La-related protein 7; La ribonucleoprotein domain family member 7; P-TEFb-interaction protein for 7SK stability; PIP7S; hLARP7",
"protein_names_refseq": "La ribonucleoprotein domain family member 7; La-related protein 7; P-TEFb-interaction protein for 7SK stability; la-related protein 7 isoform 1",
"tax_id": 9606,
"disease": "microcephalic primordial dwarfism, Alazami type (MONDO:MONDO:0014031)",
"pathway": " (hsa:51574)",
"pathway_count": 1,
"publication_count": 76,
"publication_id_list": "11237011;17081983;18212344;18249148;18281698;18318008;18452278;18483487;18491316;18669648;18707149;18767875;19413330;19415658;19651622;19664995;19690332;19906723;20068231;20166139;21406692;21937992;22865833;23186163;23301498;24275569;24714562;25576301;25645385;25753663;26374271;27679474;27766953;27920218;28218747;28228285;28254838;28832583;28904123;29051200;29242379;29351928;29437277;29557506;29576627;29619239;29946027;30006060;30315122;30379171;30429286;30484775;30824372;31844290;32017898;32157095;32357974;32387766;32938616;32983136;33298915;33592498;33936100;33968037;34171305;34509645;34818543;35051231;35138101;35580925;36010968;36241641;36284347;37217939;39009594;40596516",
"class_list": "",
"function": "LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; LARP7 ameliorates cellular senescence and aging by allosterically enhancing SIRT1 deacetylase activity., [RefSeq, PubMed]; RNA-binding protein that specifically binds distinct small nuclear RNA (snRNAs) and regulates their processing and function (PubMed:18249148, PubMed:32017898). Specifically binds the 7SK snRNA (7SK RNA) and acts as a core component of the 7SK ribonucleoprotein (RNP) complex, thereby acting as a negative regulator of transcription elongation by RNA polymerase II (PubMed:18249148, PubMed:18483487). The 7SK RNP complex sequesters the positive transcription elongation factor b (P-TEFb) in a large inactive 7SK RNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:18249148, PubMed:18483487). The 7SK RNP complex also promotes snRNA gene transcription by RNA polymerase II via interaction with the little elongation complex (LEC) (PubMed:28254838). LARP7 specifically binds to the highly conserved 3'-terminal U-rich stretch of 7SK RNA; on stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex (PubMed:18281698, PubMed:18483487). LARP7 also acts as a regulator of mRNA splicing fidelity by promoting U6 snRNA processing (PubMed:32017898). Specifically binds U6 snRNAs and associates with a subset of box C/D RNP complexes: promotes U6 snRNA 2'-O-methylation by facilitating U6 snRNA loading into box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Binds U6 snRNAs with a 5'-CAGGG-3' sequence motif (PubMed:32017898). U6 snRNA processing is required for spermatogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Results identify PIP7S as a La-related protein stably associated with and required for 7SK snRNP integrity., [RefSeq, PubMed]; Results indicate LARP7 is a 7SK-binding protein., [RefSeq, PubMed]; Results suggest that LARP7 is a negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system., [RefSeq, PubMed]; This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]",
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"secondary_ac_list": "B2ZHN6;Q3B7A9;Q9P1S7;Q9Y3Z8",
"ec_number_list": [],
"go_molecular_function": "GO:0003723 RNA binding;GO:0097322 7SK snRNA binding;GO:0017070 U6 snRNA binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex;GO:0120259 7SK snRNP",
"go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:1904871 positive regulation of protein localization to Cajal body;GO:1905382 positive regulation of snRNA transcription by RNA polymerase II;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription",
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"hit_score": 7.9,
"record_id": "Q4G0J3-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
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},
{
"uniprot_canonical_ac": "O75794-1",
"uniprot_id": [
{
"id": "CD123_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75794",
"type": "external"
}
],
"mass": 39135.0,
"length": 336,
"protein_name": "Translation initiation factor eIF2 assembly protein",
"gene_name": "CDC123",
"organism": "Human",
"refseq_name": "translation initiation factor eIF2 assembly protein",
"refseq_ac": [
{
"id": "NP_006014",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006014",
"type": "external"
}
],
"gene_names_uniprotkb": "CDC123; C10orf7; D123",
"gene_names_refseq": "C10orf7; CDC123; D123",
"protein_names_uniprotkb": "Translation initiation factor eIF2 assembly protein; Cell division cycle protein 123 homolog; HT-1080; PZ32; Protein D123",
"protein_names_refseq": "HT-1080; PZ32; cell division cycle 123 homolog; cell division cycle protein 123 homolog; translation initiation factor eIF2 assembly protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:8872)",
"pathway_count": 1,
"publication_count": 78,
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"class_list": "",
"function": "ATP-dependent protein-folding chaperone for the eIF2 complex (PubMed:35031321, PubMed:37507029). Binds to the gamma subunit of the eIF2 complex which allows the subunit to assemble with the alpha and beta subunits (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; ATP-dependent protein-folding chaperone for the eIF2 complex. Binds to the gamma subunit of the eIF2 complex which allows the subunit to assemble with the alpha and beta subunits., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Binding of human Cdc123 to eIF2gamma., [RefSeq, PubMed]; CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle., [RefSeq, PubMed]",
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"secondary_ac_list": "A8JZZ7;Q14107;Q5T0L4;Q5T0L5;Q5T0L7;Q5T0L8;Q5T0L9",
"ec_number_list": [],
"go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0044183 protein folding chaperone",
"go_cellular_component": "GO:0005737 cytoplasm",
"go_biological_process": "GO:1905143 eukaryotic translation initiation factor 2 complex assembly",
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},
{
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{
"id": "TEANC_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N8B7",
"type": "external"
}
],
"mass": 40245.0,
"length": 351,
"protein_name": "Transcription elongation factor A N-terminal and central domain-containing protein",
"gene_name": "TCEANC",
"organism": "Human",
"refseq_name": "transcription elongation factor A N-terminal and central domain-containing protein isoform 2",
"refseq_ac": [
{
"id": "NP_001284492",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284492",
"type": "external"
}
],
"gene_names_uniprotkb": "TCEANC",
"gene_names_refseq": "TCEANC1; TCEANC",
"protein_names_uniprotkb": "Transcription elongation factor A N-terminal and central domain-containing protein; TFIIS central domain-containing protein 1",
"protein_names_refseq": "TFIIS central domain-containing protein 1; TFS2-M domain-containing protein 1; transcription elongation factor A (SII) N-terminal and central domain containing; transcription elongation factor A N-terminal and central domain-containing protein isoform 2; transcription elongation factor A N-terminal and central domain-containing protein",
"tax_id": 9606,
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"secondary_ac_list": "A6NI06;B2RDM3",
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"go_molecular_function": "GO:0003711 transcription elongation factor activity",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006368 transcription elongation by RNA polymerase II;GO:0006351 DNA-templated transcription",
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},
{
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{
"id": "TBC23_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NUY8",
"type": "external"
}
],
"mass": 78322.0,
"length": 699,
"protein_name": "TBC1 domain family member 23",
"gene_name": "TBC1D23",
"organism": "Human",
"refseq_name": "TBC1 domain family member 23 isoform 1",
"refseq_ac": [
{
"id": "NP_001186127",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186127",
"type": "external"
}
],
"gene_names_uniprotkb": "TBC1D23; NS4ATP1",
"gene_names_refseq": "NS4ATP1; PCH11; TBC1D23",
"protein_names_uniprotkb": "TBC1 domain family member 23; HCV non-structural protein 4A-transactivated protein 1",
"protein_names_refseq": "HCV non-structural protein 4A-transactivated protein 1; HCV nonstructural protein 4A-transactivated protein 1; TBC1 domain family member 23 isoform 1",
"tax_id": 9606,
"disease": "pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); pontocerebellar hypoplasia type 11 (Disease Ontology:DOID:0112324)",
"pathway": " (hsa:55773)",
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"function": "FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH., [RefSeq, PubMed]; Homozygous Mutations in TBC1D23 gene are associated with Non-degenerative Form of Pontocerebellar Hypoplasia., [RefSeq, PubMed]; Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707). Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865). Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles. Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1. Plays a role in brain development, including in cortical neuron positioning. May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth. May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge., [UniProtKB, UniProtKB]; Rhodanese domain packs against the TBC domain and forms part of the platform to interact with golgin-97/245 Publication Status: Online-Only, [RefSeq, PubMed]; TBC1 domain family member 23 interacts with Ras-related protein Rab-11A to promote poor prognosis of non-small-cell lung cancer via beta1-integrin., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle;GO:0005802 trans-Golgi network",
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},
{
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{
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"type": "external"
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"organism": "Human",
"refseq_name": "uncharacterized protein C2orf42",
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{
"id": "NP_001335687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335687",
"type": "external"
}
],
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"protein_names_uniprotkb": "Uncharacterized protein C2orf42",
"protein_names_refseq": "uncharacterized protein C2orf42",
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},
{
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{
"id": "KRIT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O00522",
"type": "external"
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],
"mass": 84348.0,
"length": 736,
"protein_name": "Krev interaction trapped protein 1",
"gene_name": "KRIT1",
"organism": "Human",
"refseq_name": "krev interaction trapped protein 1 isoform 2",
"refseq_ac": [
{
"id": "NP_001013424",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424",
"type": "external"
}
],
"gene_names_uniprotkb": "KRIT1; CCM1",
"gene_names_refseq": "CAM; CCM1; KRIT1",
"protein_names_uniprotkb": "Krev interaction trapped protein 1; Cerebral cavernous malformations 1 protein; Krev interaction trapped 1",
"protein_names_refseq": "ankyrin repeat-containing protein Krit1; cerebral cavernous malformations 1 protein; krev interaction trapped 1; krev interaction trapped protein 1 isoform 2; krev interaction trapped protein 1",
"tax_id": 9606,
"disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); cerebral cavernous malformation 1 (Disease Ontology:DOID:0080491)",
"pathway": " (hsa:889)",
"pathway_count": 1,
"publication_count": 68,
"publication_id_list": "11161791;11161805;11237011;11342228;11741838;11854171;12172908;17916086;20058876;20332120;20616044;20668652;21633110;22577140;23007647;23317506;24715725;25576301;25880248;25892735;26154972;26417067;26458359;26992070;27862975;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;30315122;30410026;30429286;31154438;31844290;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33392160;33443102;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34088891;34171305;34509645;34932366;35051231;36010968;36284347;36892712;38795261;9285558",
"class_list": "",
"function": "A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations., [RefSeq, PubMed]; Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. May play a role in the regulation of macroautophagy through the down-regulation of the mTOR pathway (PubMed:26417067)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Plasma water T2 detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation., [RefSeq, PubMed]; This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]",
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"secondary_ac_list": "A6NNU0;O43894;Q506L6;Q6U276;Q75N19;Q9H180;Q9H264;Q9HAX5",
"ec_number_list": [],
"go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008017 microtubule binding;GO:0030695 GTPase regulator activity",
"go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005911 cell-cell junction",
"go_biological_process": "GO:0001525 angiogenesis;GO:0001937 negative regulation of endothelial cell proliferation;GO:0007264 small GTPase-mediated signal transduction;GO:2000352 negative regulation of endothelial cell apoptotic process;GO:0016525 negative regulation of angiogenesis",
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},
{
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"uniprot_id": [
{
"id": "ZMY10_HUMAN",
"url": "https://www.uniprot.org/uniprot/O75800",
"type": "external"
}
],
"mass": 50344.0,
"length": 440,
"protein_name": "Zinc finger MYND domain-containing protein 10",
"gene_name": "ZMYND10",
"organism": "Human",
"refseq_name": "zinc finger MYND domain-containing protein 10 isoform 2",
"refseq_ac": [
{
"id": "NP_001295308",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295308",
"type": "external"
}
],
"gene_names_uniprotkb": "ZMYND10; BLU; LUCA12.4",
"gene_names_refseq": "BLU; CILD22; DNAAF7; FLU; ZMYND10",
"protein_names_uniprotkb": "Zinc finger MYND domain-containing protein 10; Protein BLu",
"protein_names_refseq": "Ciliary dyskinesia, primary, 22; dynein axonemal assembly factor 7; protein BLu; tumor suppressor BLU; zinc finger MYND domain-containing protein 10 isoform 2; zinc finger MYND domain-containing protein 10",
"tax_id": 9606,
"disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); primary ciliary dyskinesia 22 (Disease Ontology:DOID:0110597); sensorineural hearing loss (Disease Ontology:DOID:10003); primary ciliary dyskinesia (Disease Ontology:DOID:9562)",
"pathway": " (hsa:51364)",
"pathway_count": 1,
"publication_count": 19,
"publication_id_list": "11085536;11237011;12629521;12794757;23891469;23891471;24715725;25186273;26768311;26824761;28029652;29557506;29601588;31154438;31530632;31801619;34171305;35051231;39894887",
"class_list": "",
"function": "A novel frameshift mutation (c.367delC) in ZMYND10, unique for Slavic primary ciliary dyskinesia population (PCD), was found in homozygous state in two unrelated PCD patients. Publication Status: Online-Only, [RefSeq, PubMed]; BLU may be one of the critical tumor suppressor genes on chromosome 3p21.3 involved in the development of nasopharyngeal carcinoma, [RefSeq, PubMed]; BLU suppressed tumor formation by strengthening the antitumor immunity., [RefSeq, PubMed]; Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Study identified ZMYND10 as a tumor suppressor, which is downregulated in breast cancer due to its promoter hypermethylation, and suggested that ZMYND10 suppresses breast cancer metastasis by through the miR145-5p/NEDD9 signaling cascade. Erratum:[Clin Epigenetics. 2022 Mar 9;14(1):36. doi: 10.1186/s13148-022-01256-0. PMID: 35264219] Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest a significant role for epigenetic inactivation of BLU in the pathogenesis of common human cancers and that methylation inactivation of BLU occurs independent of RASSF1A in SCLC and neuroblastoma tumours., [RefSeq, PubMed]; This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]",
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"secondary_ac_list": "A6NK41;B3KU54;O14570;O75801;Q53FE6;Q8N4R6;Q8NDN6",
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"go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0044183 protein folding chaperone",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0016324 apical plasma membrane;GO:0034451 centriolar satellite;GO:0120293 dynein axonemal particle",
"go_biological_process": "GO:0044458 motile cilium assembly;GO:0036158 outer dynein arm assembly;GO:1905505 positive regulation of motile cilium assembly;GO:0036159 inner dynein arm assembly",
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},
{
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"uniprot_id": [
{
"id": "JADE1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6IE81",
"type": "external"
}
],
"mass": 95533.0,
"length": 842,
"protein_name": "Protein Jade-1",
"gene_name": "JADE1",
"organism": "Human",
"refseq_name": "protein Jade-1 isoform 3",
"refseq_ac": [
{
"id": "NP_001274366",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274366",
"type": "external"
}
],
"gene_names_uniprotkb": "JADE1; KIAA1807; PHF17",
"gene_names_refseq": "JADE1; PHF17",
"protein_names_uniprotkb": "Protein Jade-1; Jade family PHD finger protein 1; PHD finger protein 17",
"protein_names_refseq": "PHD finger protein 17; PHD protein Jade-1; gene for apoptosis and differentiation in epithelia; jade family PHD finger protein 1; protein Jade-1 isoform 3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79960); (R-HSA-3214847)",
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"publication_id_list": "10.1101/2023.09.13.557529;10786633;10821277;11237011;12169691;14612400;15313887;15502158;16046545;16387653;18220336;18381289;18623064;19187765;19187766;19413330;19664995;19690332;20018852;20068231;20129055;21406692;22654112;23186163;23481700;24065767;24714562;24715725;25100726;25505266;26154972;26375851;26728094;26992070;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29382722;29437277;29508533;29557506;29632711;29786170;29789417;30315122;30379171;30524438;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33141586;33691108;33717175;33968037;34087483;34171305;34509645;34719765;34932366;35051231;35254053;35561310;35580925;36284347;37175531;37938771;9427644;9558366;9880483",
"class_list": "",
"function": "Genome-wide association study and functional validation implicates JADE1 in tauopathy., [RefSeq, PubMed]; Jade-1 is a novel candidate transcriptional co-activator associated with HAT activity and may play a key role in the pathogenesis of renal cancer and von Hippel-Lindau disease, [RefSeq, PubMed]; Jade-1 may suppress renal cancer cell growth in part by increasing apoptosis., [RefSeq, PubMed]; Jade-1 protein is a novel candidate regulatory factor in Von Hippel Lindau-mediated renal tumor suppression, [RefSeq, PubMed]; MicroRNA-155-5p Targets JADE-1, Promoting Proliferation, Migration, and Invasion in Clear Cell Renal Cell Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity (PubMed:16387653, PubMed:19187766, PubMed:20129055, PubMed:24065767). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H4 acetylation (H4K5ac, H4K8ac and H4K12ac), regulating DNA replication initiation, regulating DNA replication initiation (PubMed:20129055, PubMed:24065767). May also promote acetylation of nucleosomal histone H4 by KAT5 (PubMed:15502158). Promotes apoptosis (PubMed:16046545). May act as a renal tumor suppressor (PubMed:16046545). Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function (PubMed:22654112)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane",
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},
{
"uniprot_canonical_ac": "Q13114-1",
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{
"id": "TRAF3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q13114",
"type": "external"
}
],
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"protein_name": "TNF receptor-associated factor 3",
"gene_name": "TRAF3",
"organism": "Human",
"refseq_name": "TNF receptor-associated factor 3 isoform 3",
"refseq_ac": [
{
"id": "NP_001186356",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186356",
"type": "external"
}
],
"gene_names_uniprotkb": "TRAF3; CAP-1; CRAF1; TRAFAMN",
"gene_names_refseq": "CAP-1; CD40bp; CRAF1; IIAE5; IMD132A; IMD132B; LAP1; RNF118; TRAF3",
"protein_names_uniprotkb": "TNF receptor-associated factor 3; 2.3.2.27; CD40 receptor-associated factor 1; CD40-binding protein; CD40BP; CRAF1; LAP1; LMP1-associated protein 1; RING-type E3 ubiquitin transferase TRAF3",
"protein_names_refseq": "CD40 associated protein 1; CD40 binding protein; CD40 receptor associated factor 1; LMP1-associated protein 1; RING-type E3 ubiquitin transferase TRAF3; TNF receptor-associated factor 3 isoform 3",
"tax_id": 9606,
"disease": "immunodeficiency 132B (Disease Ontology:DOID:0061097); immunodeficiency 132A (Disease Ontology:DOID:0061101)",
"pathway": " (hsa:7187); (R-HSA-5602571); (R-HSA-5668541); (R-HSA-5676594); (R-HSA-5689896); (R-HSA-9013973); (R-HSA-918233); (R-HSA-936440); (R-HSA-936964); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9824878); (R-HSA-9828211)",
"pathway_count": 13,
"publication_count": 276,
"publication_id_list": "10037686;10082512;10085077;10199393;10359578;10385526;10421793;10523862;10764746;10791955;10797013;10809768;10903733;10984535;11035039;11237011;11244049;11463333;11728344;11853672;12005438;12019269;12374738;12529173;12571250;12604599;12692549;12721620;12759408;12787562;14517219;14517278;14555995;14661020;14703513;15084608;15208624;15210742;15258597;15334086;15368291;15383523;15585864;15644327;15824857;16009714;16153868;16281057;16306936;16306937;16699525;16715065;16846591;16858409;16914100;17035307;17047224;17157040;17190786;17270291;17327220;17412287;17526488;17596301;17599067;17636564;17761676;17823124;17991829;18057259;18200010;18614628;18635759;18997792;18997794;19125153;19241374;19380580;19383985;19398035;19419966;19426221;19464428;19815541;19818707;19881509;19893624;19898473;19937093;19996094;20097753;20174559;20185819;20304918;20385556;20434986;20483727;20553488;20627800;20832341;21081755;21091114;21302310;21632562;21862579;22046132;22124327;22253733;22299025;22312431;22619329;22941947;23186163;23453969;23453971;23453972;23483519;23667509;23827681;23871208;24248355;24298274;24390324;24432023;24509444;24610782;24622840;24722368;24854014;25135833;25152365;25418920;25502872;25505266;25764917;25847972;25880248;25904330;25907116;26280536;26320399;26375851;26378163;26811146;26992070;27090790;27164085;27203180;27387501;27438768;27538435;27846572;27980081;28063628;28148787;28228285;28467828;28834231;28860189;29242379;29294448;29314611;29393594;29557506;29632046;30185776;30315122;30379171;31020640;31034780;31217245;31231549;31844290;31850239;32350084;32353859;32357974;32428392;32562145;32589897;32726803;32728199;32953130;32979938;32983136;33024073;33060197;33091337;33097660;33110251;33148796;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33608556;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33989516;33990585;34011520;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35102342;35154160;35643212;35960817;36004314;36897010;36936901;37051252;37097293;37422573;37798663;38367916;38662551;39579173;7527023;7530216;7533327;7544915;7639698;7859281;8521496;8663299;8702708;8710854;9122217;9162022;9168896;9247583;9275204;9367155;9418902;9463386;9488716;9541017;9566918;9718306;9774460;9774977;9852070;9989503",
"class_list": "",
"function": "Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both immune and non-immune cell types (PubMed:33148796, PubMed:33608556). In TLR and RLR signaling pathways, acts as an E3 ubiquitin ligase promoting the synthesis of 'Lys-63'-linked polyubiquitin chains on several substrates such as ASC that lead to the activation of the type I interferon response or the inflammasome (PubMed:25847972, PubMed:27980081). Following the activation of certain TLRs such as TLR4, acts as a negative NF-kappa-B regulator, possibly to avoid unregulated inflammatory response, and its degradation via 'Lys-48'-linked polyubiquitination is required for MAPK activation and production of inflammatory cytokines. Alternatively, when TLR4 orchestrates bacterial expulsion, TRAF3 undergoes 'Lys-33'-linked polyubiquitination and subsequently binds to RALGDS, mobilizing the exocyst complex to rapidly expel intracellular bacteria back for clearance (PubMed:27438768). Also acts as a constitutive negative regulator of the alternative NF-kappa-B pathway, which controls B-cell survival and lymphoid organ development. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Down-regulates proteolytic processing of NFKB2, and thereby inhibits non-canonical activation of NF-kappa-B. Promotes ubiquitination and proteasomal degradation of MAP3K14., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Effects of TRAF3 on the proliferation and migration of lung adenocarcinoma depend partly on pyroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; FOSL1 regulates hyperproliferation and NLRP3-mediated inflammation of psoriatic keratinocytes through the NF-kB signaling via transcriptionally activating TRAF3., [RefSeq, PubMed]; LncRNA XIST Exacerbates Oxygen-Glucose Deprivation/Reoxygenation-Induced Cerebral Injury Through the miR-25-3p/TRAF3 Axis., [RefSeq, PubMed]; TRAF3 loss-of-function reveals the noncanonical NF-kappaB pathway as a therapeutic target in diffuse large B cell lymphoma., [RefSeq, PubMed]; TRAF3-EWSR1 signaling axis acts as a checkpoint on germinal center responses. Erratum:[J Exp Med. 2023 Aug 7;220(8):e2022148307122023c. doi: 10.1084/jem.2022148307122023c. PMID: 37462917], [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]., [RefSeq]",
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{
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{
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],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0031996 thioesterase binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005829 cytosol;GO:0010008 endosome membrane",
"go_biological_process": "GO:0032648 regulation of interferon-beta production;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0051607 defense response to virus;GO:0006915 apoptotic process",
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},
{
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{
"id": "CCS_HUMAN",
"url": "https://www.uniprot.org/uniprot/O14618",
"type": "external"
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],
"mass": 29041.0,
"length": 274,
"protein_name": "Copper chaperone for superoxide dismutase",
"gene_name": "CCS",
"organism": "Human",
"refseq_name": "copper chaperone for superoxide dismutase",
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{
"id": "NP_005116",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_005116",
"type": "external"
}
],
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"protein_names_uniprotkb": "Copper chaperone for superoxide dismutase; Superoxide dismutase copper chaperone",
"protein_names_refseq": "copper chaperone for superoxide dismutase; superoxide dismutase copper chaperone",
"tax_id": 9606,
"disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); neurodegenerative disease (Disease Ontology:DOID:1289); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); cataract (Disease Ontology:DOID:83)",
"pathway": " (hsa:9973); (R-HSA-3299685)",
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"class_list": "",
"function": "CRISPR/Cas9 screens unravel miR-3689a-3p regulating sorafenib resistance in hepatocellular carcinoma via suppressing CCS/SOD1-dependent mitochondrial oxidative stress., [RefSeq, PubMed]; Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]., [RefSeq]; Delivers copper to copper zinc superoxide dismutase (SOD1)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; The E3 ligase TRIM22 functions as a tumor suppressor in breast cancer by targeting CCS for proteasomal degradation to inhibit STAT3 signaling., [RefSeq, PubMed]; The copper chaperone CCS facilitates copper binding to MEK1/2 to promote kinase activation., [RefSeq, PubMed]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol",
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{
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],
"mass": 27163.0,
"length": 242,
"protein_name": "Dynein axonemal assembly factor 19",
"gene_name": "DNAAF19",
"organism": "Human",
"refseq_name": "dynein axonemal assembly factor 19 isoform 1",
"refseq_ac": [
{
"id": "NP_001245324",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245324",
"type": "external"
}
],
"gene_names_uniprotkb": "DNAAF19; CCDC103",
"gene_names_refseq": "CCDC103; CILD17; DNAAF19; PR46b; SMH",
"protein_names_uniprotkb": "Dynein axonemal assembly factor 19; Coiled-coil domain-containing protein 103",
"protein_names_refseq": "coiled-coil domain containing 103; coiled-coil domain-containing protein 103; dynein axonemal assembly factor 19 isoform 1",
"tax_id": 9606,
"disease": "primary ciliary dyskinesia 17 (Disease Ontology:DOID:0110621); primary ciliary dyskinesia (Disease Ontology:DOID:9562)",
"pathway": " (hsa:388389)",
"pathway_count": 1,
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"publication_id_list": "11237011;22581229;23481700;24715725;25186273;25576301;26123568;27846572;28790179;28904123;29508533;31217245;31858719;31937595;32265295;32502341;32938616;33298915;33717175;33981976;35051231;35259782",
"class_list": "",
"function": "A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms., [RefSeq, PubMed]; A variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17. Publication Status: Online-Only, [RefSeq, PubMed]; Dynein-attachment factor required for cilia motility., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The CCDC103 p.His154Pro mutation is more prevalent than previously thought in the South Asian community in the UK and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests., [RefSeq, PubMed]; The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites., [RefSeq, PubMed]; These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0042803 protein homodimerization activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0036157 outer dynein arm",
"go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0007368 determination of left/right symmetry;GO:0001947 heart looping;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q14929-1",
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{
"id": "ZN169_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q14929",
"type": "external"
}
],
"mass": 68488.0,
"length": 603,
"protein_name": "Zinc finger protein 169",
"gene_name": "ZNF169",
"organism": "Human",
"refseq_name": "zinc finger protein 169 isoform 2",
"refseq_ac": [
{
"id": "NP_919301",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_919301",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF169",
"gene_names_refseq": "ZNF169",
"protein_names_uniprotkb": "Zinc finger protein 169",
"protein_names_refseq": "zinc finger protein 169 isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:169841); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 21,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19664995;2163759;25576301;28411811;31530632;35051231;38666541;8183939;8769649;9071574;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Overexpression of ZNF169 promotes the growth and proliferation of colorectal cancer cells via the upregulation of ANKZF1., [RefSeq, PubMed]",
"predicted_glycosites": 0,
"predicted_n_glycosites": 0,
"predicted_o_glycosites": 0,
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"secondary_ac_list": "A2AGP5;A8K127;Q6PI28",
"ec_number_list": [],
"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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"record_id": "Q14929-1",
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},
{
"uniprot_canonical_ac": "O15245-1",
"uniprot_id": [
{
"id": "S22A1_HUMAN",
"url": "https://www.uniprot.org/uniprot/O15245",
"type": "external"
}
],
"mass": 61154.0,
"length": 554,
"protein_name": "Solute carrier family 22 member 1",
"gene_name": "SLC22A1",
"organism": "Human",
"refseq_name": "solute carrier family 22 member 1 isoform a",
"refseq_ac": [
{
"id": "NP_003048",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC22A1; OCT1",
"gene_names_refseq": "HOCT1; OCT1; SLC22A1; oct1_cds",
"protein_names_uniprotkb": "Solute carrier family 22 member 1; Organic cation transporter 1; hOCT1",
"protein_names_refseq": "organic cation transporter 1; solute carrier family 22 (organic cation transporter), member 1; solute carrier family 22 member 1 isoform a",
"tax_id": 9606,
"disease": "extrahepatic cholestasis (Disease Ontology:DOID:13619); intrahepatic cholestasis (Disease Ontology:DOID:1852); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021)",
"pathway": " (hsa:6580); (R-HSA-112311); (R-HSA-181430); (R-HSA-2161517); (R-HSA-442660); (R-HSA-549127); (R-HSA-9793528)",
"pathway_count": 7,
"publication_count": 133,
"publication_id_list": "10072434;10196521;10446133;10684912;10889531;10966924;10973981;11053835;11105732;11237011;11388889;11408531;11698620;11877335;11897791;11907186;11912245;12089149;12115694;12151341;12372408;12384147;12439218;12519779;12719534;14608356;14674884;14697261;15107849;15184985;15286787;15286788;15389554;15499200;15592994;15632147;15716365;15795384;15817714;15832500;15901800;15935055;16226721;16263091;16272756;16330770;16436500;16581093;16602760;16751771;16788146;16807400;16914559;16951202;17274666;17301226;17437964;17460754;17478680;1748670;17502375;17509534;17635184;17639028;17686774;17709369;17726476;17766642;17891149;18200507;18381565;18457821;18599538;1864287;19021069;19141712;19536068;19954617;2008212;20103563;21128598;21824501;21930826;22354288;22841915;23223357;23545524;23680637;2387399;24275569;24913236;24961373;25576301;25892735;26522469;26979622;28505497;28942964;29557506;30429286;31004787;31323489;3158274;32161166;34040533;35051231;35307651;35469921;37821493;38605354;38703769;39068198;40972734;7651355;7874447;7989337;8095030;8125921;8183239;8211186;8383921;8632143;8647271;9187257;9260930;9283689;9520460;9655880;9685390;9701566;9744804;9845349;9861027",
"class_list": "",
"function": "Electrogenic voltage-dependent uniporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:11388889, PubMed:11408531, PubMed:12439218, PubMed:12719534, PubMed:15389554, PubMed:16263091, PubMed:16272756, PubMed:16581093, PubMed:19536068, PubMed:21128598, PubMed:23680637, PubMed:24961373, PubMed:34040533, PubMed:9187257, PubMed:9260930, PubMed:9655880). Functions as a pH- and Na(+)-independent, bidirectional transporter (By similarity). Cation cellular uptake or release is driven by the electrochemical potential (i.e. membrane potential and concentration gradient) and substrate selectivity (By similarity). Hydrophobicity is a major requirement for recognition in polyvalent substrates and inhibitors (By similarity). Primarily expressed at the basolateral membrane of hepatocytes and proximal tubules and involved in the uptake and disposition of cationic compounds by hepatic and renal clearance from the blood flow (By similarity). Most likely functions as an uptake carrier in enterocytes contributing to the intestinal elimination of organic cations from the systemic circulation (PubMed:16263091). Transports endogenous monoamines such as N-1-methylnicotinamide (NMN), guanidine, histamine, neurotransmitters dopamine, serotonin and adrenaline (PubMed:12439218, PubMed:24961373, PubMed:35469921, PubMed:9260930). Also transports natural polyamines such as spermidine, agmatine and putrescine at low affinity, but relatively high turnover (PubMed:21128598). Involved in the hepatic uptake of vitamin B1/thiamine, hence regulating hepatic lipid and energy metabolism (PubMed:24961373). Also transport choline, albeit with low affinity (PubMed:40972734). Mediates the bidirectional transport of acetylcholine (ACh) at the apical membrane of ciliated cell in airway epithelium, thereby playing a role in luminal release of ACh from bronchial epithelium (PubMed:15817714). Transports dopaminergic neuromodulators cyclo(his-pro) and salsolinol with lower efficiency (PubMed:17460754). Also capable of transporting non-amine endogenous compounds such as prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) (PubMed:11907186). May contribute to the transport of cationic compounds in testes across the blood-testis-barrier (Probable). Also involved in the uptake of xenobiotics tributylmethylammonium (TBuMA), quinidine, N-methyl-quinine (NMQ), N-methyl-quinidine (NMQD) N-(4,4-azo-n-pentyl)-quinuclidine (APQ), azidoprocainamide methoiodide (AMP), N-(4,4-azo-n-pentyl)-21-deoxyajmalinium (APDA) and 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP) (PubMed:11408531, PubMed:15389554, PubMed:35469921, PubMed:9260930)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates the uptake of 1-methyl-4-phenylpyridinium (MPP(+))., [UniProtKB, PubMed]; Not able to uptake 1-methyl-4-phenylpyridinium (MPP(+))., [UniProtKB, PubMed]; OCT1 (SLC22A1) transporter kinetics and regulation in primary human hepatocyte 3D spheroids. Publication Status: Online-Only, [RefSeq, PubMed]; Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]., [RefSeq]; Structural basis of promiscuous substrate transport by Organic Cation Transporter 1. Publication Status: Online-Only, [RefSeq, PubMed]; THOC7-AS1/OCT1/FSTL1 axis promotes EMT and serves as a therapeutic target in cutaneous squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics., [RefSeq, PubMed]",
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"secondary_ac_list": "A6NFF3;A8K1H2;C9JSU6;O15395;Q9NQD4",
"ec_number_list": [
{
"id": "1.8.-.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-",
"type": "external"
}
],
"go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015651 quaternary ammonium group transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0005334 norepinephrine:sodium symporter activity;GO:0022857 transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0016328 lateral plasma membrane",
"go_biological_process": "GO:0015697 quaternary ammonium group transport;GO:0015844 monoamine transport;GO:0015870 acetylcholine transport;GO:0072237 metanephric proximal tubule development;GO:0015695 organic cation transport",
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"hit_score": 13.4,
"record_id": "O15245-1",
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"filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000",
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},
{
"uniprot_canonical_ac": "Q8N1B3-1",
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{
"id": "CCNQ_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8N1B3",
"type": "external"
}
],
"mass": 28369.0,
"length": 248,
"protein_name": "Cyclin-Q",
"gene_name": "CCNQ",
"organism": "Human",
"refseq_name": "cyclin-Q isoform 2",
"refseq_ac": [
{
"id": "NP_001124469",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124469",
"type": "external"
}
],
"gene_names_uniprotkb": "CCNQ; FAM58A",
"gene_names_refseq": "CCNQ; CycM; FAM58A",
"protein_names_uniprotkb": "Cyclin-Q; CDK10-activating cyclin; Cyclin-M; Cyclin-related protein FAM58A",
"protein_names_refseq": "CDK10-activating cyclin; cyclin M; cyclin-Q isoform 2; cyclin-related protein FAM58A; family with sequence similarity 58 member A",
"tax_id": 9606,
"disease": "syndactyly-telecanthus-anogenital and renal malformations syndrome (Disease Ontology:DOID:0111931)",
"pathway": " (hsa:92002)",
"pathway_count": 1,
"publication_count": 34,
"publication_id_list": "11237011;18297069;24218572;24397554;24715725;25418920;25576301;25645385;26024233;26811146;26882209;26992070;28218747;28322501;28834231;28904123;29242379;29393594;29437277;29786170;30315122;31092671;31844290;32157095;32357974;32488085;32938616;32983136;33912179;33936100;33968037;34369103;35051231;35291876",
"class_list": "",
"function": "Activating cyclin for the cyclin-associated kinase CDK10., [UniProtKB, PubMed, PubMed]; Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders., [RefSeq, PubMed]; Functional characterization of the human Cdk10/Cyclin Q complex., [RefSeq, PubMed]; Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations., [RefSeq, PubMed]; Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]., [RefSeq]; These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered., [RefSeq, PubMed]; This is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome., [RefSeq, PubMed]",
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"secondary_ac_list": "Q2I380;Q330J9;Q96IU5;Q9BUU1",
"ec_number_list": [],
"go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0000307 cyclin-dependent protein kinase holoenzyme complex",
"go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:1902749 regulation of cell cycle G2/M phase transition",
"synthesized_glycan_count": 0,
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"record_id": "Q8N1B3-1",
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},
{
"uniprot_canonical_ac": "A0PK00-1",
"uniprot_id": [
{
"id": "T120B_HUMAN",
"url": "https://www.uniprot.org/uniprot/A0PK00",
"type": "external"
}
],
"mass": 40246.0,
"length": 339,
"protein_name": "Transmembrane protein 120B",
"gene_name": "TMEM120B",
"organism": "Human",
"refseq_name": "transmembrane protein 120B",
"refseq_ac": [
{
"id": "NP_001074294",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294",
"type": "external"
}
],
"gene_names_uniprotkb": "TMEM120B",
"gene_names_refseq": "TMEM120B",
"protein_names_uniprotkb": "Transmembrane protein 120B",
"protein_names_refseq": "transmembrane protein 120B",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:144404)",
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"publication_count": 14,
"publication_id_list": "11237011;19240061;27846572;28228285;28904123;29557506;30315122;31844290;32938616;33141586;33912179;35580925;36284347;38504374",
"class_list": "",
"function": "Necessary for efficient adipogenesis. Does not show ion channel activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via beta1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9. Publication Status: Online-Only, [RefSeq, PubMed]",
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"secondary_ac_list": "A0PK01;B3KX33",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0005637 nuclear inner membrane",
"go_biological_process": "GO:0051291 protein heterooligomerization;GO:0045444 fat cell differentiation",
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"hit_score": 1.5,
"record_id": "A0PK00-1",
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},
{
"uniprot_canonical_ac": "Q9P2Z0-1",
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{
"id": "THA10_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P2Z0",
"type": "external"
}
],
"mass": 28351.0,
"length": 257,
"protein_name": "THAP domain-containing protein 10",
"gene_name": "THAP10",
"organism": "Human",
"refseq_name": "THAP domain-containing protein 10",
"refseq_ac": [
{
"id": "NP_064532",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_064532",
"type": "external"
}
],
"gene_names_uniprotkb": "THAP10",
"gene_names_refseq": "THAP10",
"protein_names_uniprotkb": "THAP domain-containing protein 10",
"protein_names_refseq": "THAP domain-containing protein 10",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:56906)",
"pathway_count": 1,
"publication_count": 11,
"publication_id_list": "11237011;17081983;18575747;28539478;28855257;28904123;30315122;31844290;32157095;32938616;34087483",
"class_list": "",
"function": "Altogether, these results revealed an unexpected and important epigenetic mini-circuit of AML1-ETO/THAP10/miR-383 in t(8;21) acute myeloid leukaemia, in which epigenetic suppression of THAP10 predicts a poor clinical outcome and represents a novel therapeutic target., [RefSeq, PubMed]; This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]., [RefSeq]; Transcripts of LRRC49/THAP10 bidirectional gene pair are co-regulated by estrogen and that hypermethylation of the bidirectional promoter region simultaneously silences both genes., [RefSeq, PubMed]",
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},
{
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{
"id": "SCML2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UQR0",
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],
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"protein_name": "Sex comb on midleg-like protein 2",
"gene_name": "SCML2",
"organism": "Human",
"refseq_name": "sex comb on midleg-like protein 2",
"refseq_ac": [
{
"id": "NP_006080",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006080",
"type": "external"
}
],
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"gene_names_refseq": "SCML2",
"protein_names_uniprotkb": "Sex comb on midleg-like protein 2",
"protein_names_refseq": "sex comb on midleg like 2; sex comb on midleg-like protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:10389)",
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"publication_id_list": "10331946;11237011;12952983;15302935;16964243;17525332;18452278;18669648;18706910;19413330;19651622;19664995;19690332;20068231;21406692;23186163;23301498;24275569;24358021;24727478;24986859;25218447;25605328;25645385;26154972;26992070;28218747;28510447;28832583;29237092;29242379;29393594;29437277;29493099;30059200;30379171;30410026;30524438;30620550;31492838;31844290;32357974;32387766;32522876;32574038;32897882;32938750;33691108;34019948;34171305;34816637;35051231;35132862;35254053;35289036;35513511;36215666;36241641;37340703;39302247;39531497;39534244;40307207;40596516",
"class_list": "",
"function": "1.78-A crystal structure of the two MBT repeats of SCML2 show significant structural similarities to the Tudor, PWWP, and chromo domains, suggesting probable evolutionary relationships and functional similarities between the MBT repeats and these domains., [RefSeq, PubMed]; Because PRC1 complexes localize to the promoters of a specific subset of developmental genes in vivo, the SLED domain of Scml2 may provide an important link connecting the PRC1 complexes to their target genes., [RefSeq, PubMed]; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity)., [UniProtKB]; SCML2 directly interacts with USP7 and drives its localization. SCML2 connects USP7 to PRC1.4, allowing for the stabilization of BMI1, and USP7 is found on SCML2 and BMI1 target genes. Erratum:[Mol Cell Biol. 2017 Sep 12;37(19):e00631-15. doi: 10.1128/MCB.00631-15. PMID: 28900000], [RefSeq, PubMed]; SCML2A, an SCML2 isoform tightly associated to chromatin, contributes to PRC1 localization and also directly enforces repression of certain Polycomb target genes. Publication Status: Online-Only, [RefSeq, PubMed]; Sex Comb on Midleg Like-2 Accelerates Hepatocellular Carcinoma Cell Proliferation and Metastasis by Activating Wnt/beta-Catenin/EMT Signaling., [RefSeq, PubMed]; The malignant brain tumor repeats of SCML2 preferentially bind histone peptides monomethylated at lysine residues. The crystal structure of the complex reveals that the modified amino acid binds to an aromatic rich pocket., [RefSeq, PubMed]; This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]., [RefSeq]",
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"secondary_ac_list": "Q5JXE6;Q86U98;Q8IWD0;Q8NDP2;Q9UGC5",
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"go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0031519 PcG protein complex",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0009653 anatomical structure morphogenesis",
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},
{
"uniprot_canonical_ac": "Q8WUJ3-1",
"uniprot_id": [
{
"id": "CEMIP_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8WUJ3",
"type": "external"
}
],
"mass": 152998.0,
"length": 1361,
"protein_name": "Cell migration-inducing and hyaluronan-binding protein",
"gene_name": "CEMIP",
"organism": "Human",
"refseq_name": "cell migration-inducing and hyaluronan-binding protein precursor",
"refseq_ac": [
{
"id": "NP_001280227",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280227",
"type": "external"
}
],
"gene_names_uniprotkb": "CEMIP; HYBID; KIAA1199",
"gene_names_refseq": "CCSP1; CEMIP1; CEMIP; HYBID; KIAA1199; TMEM2L",
"protein_names_uniprotkb": "Cell migration-inducing and hyaluronan-binding protein; 3.2.1.35; Hyaluronan binding protein involved in hyaluronan depolymerization",
"protein_names_refseq": "cell migration inducing hyaluronan binding protein; cell migration inducing protein, hyaluronan binding; cell migration-inducing and hyaluronan-binding protein precursor; cell migration-inducing and hyaluronan-binding protein; colon cancer secreted protein 1; hyaluronan-binding protein involved in hyaluronan depolymerization",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57214); (R-HSA-2160916)",
"pathway_count": 2,
"publication_count": 55,
"publication_id_list": "11237011;11247670;11350981;11568288;12471561;14514708;14577002;15035633;15090545;15503855;15510212;16104017;16157444;17050540;18691976;19434458;20220067;21772334;22970280;23481700;23509262;23936024;23990668;24269685;25576301;27726376;29314611;29557506;2971395;29789417;30429286;31844290;31848261;32387766;32488085;32938616;32983136;33043033;33592498;33968037;34171305;34357683;34509645;3468507;35051231;35580925;36849460;36931608;37074911;37196767;38199493;38665916;8282124;8901634;9712871",
"class_list": "glycogene;glycosylhydrolase",
"function": "ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT., [RefSeq, PubMed]; CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CEMIP-mediated hyaluronan metabolism facilitates SCLC metastasis by activating TLR2/c-Src/ERK1/2 axis., [RefSeq, PubMed]; Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression., [RefSeq, PubMed]; Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC-dependent manner. May be involved in hearing., [UniProtKB, PubMed, PubMed, PubMed]; Three possibly disease-causing point mutations, [RefSeq, PubMed]",
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"secondary_ac_list": "Q6L9J5;Q9H1K5;Q9NPN9;Q9ULM1",
"ec_number_list": [
{
"id": "3.2.1.35",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.35",
"type": "external"
}
],
"go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005540 hyaluronic acid binding;GO:0004415 hyalurononglucosaminidase activity;GO:0032050 clathrin heavy chain binding;GO:0046923 ER retention sequence binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit",
"go_biological_process": "GO:0010800 positive regulation of peptidyl-threonine phosphorylation;GO:0030335 positive regulation of cell migration;GO:0051281 positive regulation of release of sequestered calcium ion into cytosol;GO:0007605 sensory perception of sound;GO:0090314 positive regulation of protein targeting to membrane",
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},
{
"uniprot_canonical_ac": "Q9NXV6-1",
"uniprot_id": [
{
"id": "CARF_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NXV6",
"type": "external"
}
],
"mass": 61125.0,
"length": 580,
"protein_name": "CDKN2A-interacting protein",
"gene_name": "CDKN2AIP",
"organism": "Human",
"refseq_name": "CDKN2A-interacting protein isoform 2",
"refseq_ac": [
{
"id": "NP_001304272",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304272",
"type": "external"
}
],
"gene_names_uniprotkb": "CDKN2AIP; CARF",
"gene_names_refseq": "CDKN2AIP; XTBD2",
"protein_names_uniprotkb": "CDKN2A-interacting protein; Collaborator of ARF",
"protein_names_refseq": "CDKN2A-interacting protein isoform 2; XRN2 binding domain containing 2; collaborates/cooperates with ARF (alternate reading frame) protein; collaborator of ARF",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55602)",
"pathway_count": 1,
"publication_count": 93,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;12154087;12581788;15109303;16964243;17460193;18077418;18669648;19690332;20068230;20068231;20166139;22661428;23186163;23301498;23481700;24366607;24462208;24485912;24714562;24825908;25114211;25505266;25576301;26375851;26992070;27655845;27920218;28218747;28411811;28514659;28657654;28834231;29237092;29242379;29351928;29393594;29557506;29632711;29786170;30059200;30379171;30429286;30620550;30779550;31154438;31217245;31492838;31530632;31637018;31844290;31848261;31998317;32119511;32157095;32221864;32265295;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33465208;33592498;33912179;33968037;33981976;34019948;34725712;34846842;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35593475;35705054;37048142;37541260;38665916;38838015;39302247;39531497;39534244;40307207;40596516;40914422",
"class_list": "",
"function": "CARF may exert a vital control on p53-HDM2-p21(WAF1) pathway that is central to the cell cycle control, senescence, and DNA damage response of human cells, [RefSeq, PubMed]; CDKN2AIP-induced cell senescence and apoptosis of testicular seminoma are associated with CARM1 and eIF4beta., [RefSeq, PubMed]; Cooperates with human p14ARF in activating p53, [RefSeq, PubMed]; Fatty Acid Excess Dysregulates CARF to Initiate the Development of Hepatic Steatosis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence., [UniProtKB, PubMed, PubMed]; Stress-induced changes in CARF expression determine cell fate to death, survival, or malignant transformation., [RefSeq, PubMed]; The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]",
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"secondary_ac_list": "Q8TBM5;Q9NYH0",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0002039 p53 binding",
"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001652 granular component",
"go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0006974 DNA damage response;GO:0030308 negative regulation of cell growth;GO:0031647 regulation of protein stability;GO:0009967 positive regulation of signal transduction",
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},
{
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{
"id": "PAK4_HUMAN",
"url": "https://www.uniprot.org/uniprot/O96013",
"type": "external"
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],
"mass": 64072.0,
"length": 591,
"protein_name": "Serine/threonine-protein kinase PAK 4",
"gene_name": "PAK4",
"organism": "Human",
"refseq_name": "serine/threonine-protein kinase PAK 4 isoform 1",
"refseq_ac": [
{
"id": "NP_001014831",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014831",
"type": "external"
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],
"gene_names_uniprotkb": "PAK4; KIAA1142",
"gene_names_refseq": "PAK4",
"protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 4; 2.7.11.1; PAK-4; p21-activated kinase 4",
"protein_names_refseq": "p21 protein (Cdc42/Rac)-activated kinase 4; p21(CDKN1A)-activated kinase 4; protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs; serine/threonine-protein kinase PAK 4 isoform 1; serine/threonine-protein kinase PAK 4",
"tax_id": 9606,
"disease": "Parkinson's disease (Disease Ontology:DOID:14330); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)",
"pathway": " (hsa:10298); (R-HSA-428540); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424)",
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{
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{
"id": "NP_149115",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_149115",
"type": "external"
}
],
"gene_names_uniprotkb": "DRC2; CCDC65",
"gene_names_refseq": "CCDC65; CFAP250; DRC2; FAP250; NYD-SP28",
"protein_names_uniprotkb": "Dynein regulatory complex subunit 2; Coiled-coil domain-containing protein 65; Testis development protein NYD-SP28",
"protein_names_refseq": "coiled-coil domain containing 65; dynein regulatory complex subunit 2 isoform 1; testis development protein NYD-SP28",
"tax_id": 9606,
"disease": "primary ciliary dyskinesia 27 (Disease Ontology:DOID:0110611)",
"pathway": " (hsa:85478)",
"pathway_count": 1,
"publication_count": 10,
"publication_id_list": "11237011;17089017;23991085;24094744;31530632;32938616;34169321;34335983;37975235;39894887",
"class_list": "",
"function": "CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans., [RefSeq, PubMed]; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD Publication Status: Online-Only, [RefSeq, PubMed]; NYD-SP28, a sperm tail protein, was cloned and characterized., [RefSeq, PubMed]; This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]., [RefSeq]",
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"secondary_ac_list": "A6NJG5;B2RBE2;Q8N7G4;Q8NA91;Q96JA0",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "GO:0031514 motile cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0005858 axonemal dynein complex",
"go_biological_process": "GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0003341 cilium movement;GO:0060285 cilium-dependent cell motility;GO:0070286 axonemal dynein complex assembly",
"synthesized_glycan_count": 0,
"hit_score": 1.3,
"record_id": "Q8IXS2-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6ZRC1-1",
"uniprot_id": [
{
"id": "CD050_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6ZRC1",
"type": "external"
}
],
"mass": 167146.0,
"length": 1508,
"protein_name": "Uncharacterized protein C4orf50",
"gene_name": "C4orf50",
"organism": "Human",
"refseq_name": "uncharacterized protein C4orf50 isoform 1",
"refseq_ac": [
{
"id": "NP_001351618",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001351618",
"type": "external"
}
],
"gene_names_uniprotkb": "C4orf50",
"gene_names_refseq": "C4orf50",
"protein_names_uniprotkb": "Uncharacterized protein C4orf50",
"protein_names_refseq": "uncharacterized protein C4orf50 isoform 1; uncharacterized protein C4orf50",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:389197)",
"pathway_count": 1,
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"secondary_ac_list": "E9PNW5",
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"record_id": "Q6ZRC1-1",
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"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9ULM2-1",
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{
"id": "ZN490_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9ULM2",
"type": "external"
}
],
"mass": 61340.0,
"length": 529,
"protein_name": "Zinc finger protein 490",
"gene_name": "ZNF490",
"organism": "Human",
"refseq_name": "zinc finger protein 490",
"refseq_ac": [
{
"id": "NP_065765",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_065765",
"type": "external"
}
],
"gene_names_uniprotkb": "ZNF490; KIAA1198",
"gene_names_refseq": "ZNF490",
"protein_names_uniprotkb": "Zinc finger protein 490",
"protein_names_refseq": "zinc finger protein 490",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57474); (R-HSA-212436)",
"pathway_count": 2,
"publication_count": 27,
"publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;28228285;29242379;29493099;30315122;30484775;31844290;31848261;32157095;33981976;34561969;34932366;8183939;8769649;9637681;9653119",
"class_list": "",
"function": "May be involved in transcriptional regulation., [UniProtKB]",
"predicted_glycosites": 0,
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"go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding",
"go_cellular_component": "GO:0005634 nucleus",
"go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription",
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"hit_score": 2.8,
"record_id": "Q9ULM2-1",
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},
{
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{
"id": "CCNJL_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8IV13",
"type": "external"
}
],
"mass": 48406.0,
"length": 435,
"protein_name": "Cyclin-J-like protein",
"gene_name": "CCNJL",
"organism": "Human",
"refseq_name": "cyclin-J-like protein isoform b",
"refseq_ac": [
{
"id": "NP_001295102",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295102",
"type": "external"
}
],
"gene_names_uniprotkb": "CCNJL",
"gene_names_refseq": "CCNJL",
"protein_names_uniprotkb": "Cyclin-J-like protein",
"protein_names_refseq": "cyclin-J-like protein isoform b; cyclin-J-like protein",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:79616)",
"pathway_count": 1,
"publication_count": 13,
"publication_id_list": "10.1101/2023.09.13.557529;11237011;31844290;32157095;32350084;32938616;34171305;34185709;35051231;35251023;35580925;36010968;37074911",
"class_list": "",
"function": "",
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"secondary_ac_list": "Q6ZN43;Q9H7W8",
"ec_number_list": [],
"go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005815 microtubule organizing center;GO:0000307 cyclin-dependent protein kinase holoenzyme complex",
"go_biological_process": "GO:0000082 G1/S transition of mitotic cell cycle;GO:0044772 mitotic cell cycle phase transition;GO:0051301 cell division",
"synthesized_glycan_count": 0,
"hit_score": 1.9,
"record_id": "Q8IV13-1",
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},
{
"uniprot_canonical_ac": "Q8TDX6-1",
"uniprot_id": [
{
"id": "CGAT1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TDX6",
"type": "external"
}
],
"mass": 61294.0,
"length": 532,
"protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1",
"gene_name": "CSGALNACT1",
"organism": "Human",
"refseq_name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1",
"refseq_ac": [
{
"id": "NP_001123990",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123990",
"type": "external"
}
],
"gene_names_uniprotkb": "CSGALNACT1; CHGN; GALNACT1; PRO1287",
"gene_names_refseq": "CSGALNACT1; CSGalNAcT-1; ChGn-1; ChGn; SDJLABA; beta4GalNAcT",
"protein_names_uniprotkb": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1; 2.4.1.174; Beta4GalNAcT-1; Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1; CsGalNAcT-1",
"protein_names_refseq": "beta4GalNAcT-1; chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1; chondroitin beta1,4 N-acetylgalactosaminyltransferase; chondroitin sulfate N-acetylgalactosaminyltransferase 1; glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase",
"tax_id": 9606,
"disease": "skeletal dysplasia, mild, with joint laxity and advanced bone age (MONDO:MONDO:0030029)",
"pathway": " (hsa:55790); (R-HSA-2022870)",
"pathway_count": 2,
"publication_count": 46,
"publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11237011;11514575;11788602;12080076;12145278;12163485;12446672;12761225;12874280;12907687;12975309;17145758;17227754;18316376;21129727;21129728;21160489;26806424;27599773;28904123;29393594;29514872;30459171;30779550;31325655;31705726;31844290;31848261;32157095;32350084;32502341;32938616;34087483;34171305;34846842;35251023;35494241;36215666;9883891",
"class_list": "glycogene;glycosyltransferase",
"function": "CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age., [RefSeq, PubMed]; In men, patients who had multiple sclerosis (MS) with S126L had a slower disease progression. This cSNP might be associated with the sex differences in clinical course of MS., [RefSeq, PubMed]; Plays a role in the initiation and elongation in the synthesis of chondroitin sulfate, [RefSeq, PubMed]; These results suggest that this enzyme has N-acetylgalactosaminyltransferase activity in both the elongation and initiation of chondroitin sulfate synthesis., [RefSeq, PubMed]; This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]., [RefSeq]; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726). Moreover, is involved in the metabolism of aggrecan (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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"secondary_ac_list": "B2RBE4;Q6P9G6;Q8IUF9;Q9NSQ7;Q9NUM9",
"ec_number_list": [
{
"id": "2.4.1.174",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.174",
"type": "external"
},
{
"id": "2.4.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0046872 metal ion binding;GO:0008376 acetylgalactosaminyltransferase activity;GO:0015020 glucuronosyltransferase activity;GO:0008955 peptidoglycan glycosyltransferase activity;GO:0047237 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0032580 Golgi cisterna membrane",
"go_biological_process": "GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process;GO:0019276 UDP-N-acetylgalactosamine metabolic process",
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"record_id": "Q8TDX6-1",
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"kg_view_protein": true
},
{
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"uniprot_id": [
{
"id": "CLSPN_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9HAW4",
"type": "external"
}
],
"mass": 151094.0,
"length": 1339,
"protein_name": "Claspin",
"gene_name": "CLSPN",
"organism": "Human",
"refseq_name": "claspin isoform 2",
"refseq_ac": [
{
"id": "NP_001177410",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177410",
"type": "external"
}
],
"gene_names_uniprotkb": "CLSPN",
"gene_names_refseq": "CLSPN",
"protein_names_uniprotkb": "Claspin; hClaspin",
"protein_names_refseq": "claspin homolog; claspin isoform 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:63967); (R-HSA-111465); (R-HSA-176187); (R-HSA-5689880); (R-HSA-5693607)",
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"function": "CLSPN is a potential biomarker associated with poor prognosis in low-grade gliomas based on a multi-database analysis., [RefSeq, PubMed]; CircRNA derived from CLSPN (circCLSPN) is an oncogene in human glioblastoma multiforme by regulating cell growth, migration and invasion via ceRNA pathway., [RefSeq, PubMed]; Claspin has a potentially critical role in replication checkpoint control in mammalian cells, [RefSeq, PubMed]; Determination of properties of both a tumor suppressor and an oncogene, [RefSeq, PubMed]; Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation (PubMed:12766152, PubMed:15190204, PubMed:15707391, PubMed:16123041). Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins (PubMed:12766152, PubMed:15096610, PubMed:15707391, PubMed:16123041). Also required to maintain normal rates of replication fork progression during unperturbed DNA replication. Binds directly to DNA, with particular affinity for branched or forked molecules and interacts with multiple protein components of the replisome such as the MCM2-7 complex and TIMELESS (PubMed:15226314, PubMed:34694004, PubMed:35585232). Important for initiation of DNA replication, recruits kinase CDC7 to phosphorylate MCM2-7 components (PubMed:27401717)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Interaction between CLSPN Gene Polymorphisms and Alcohol Consumption Contributes to Oral Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0010997 anaphase-promoting complex binding;GO:0000217 DNA secondary structure binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus",
"go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0006281 DNA repair;GO:0000077 DNA damage checkpoint signaling;GO:0007095 mitotic G2 DNA damage checkpoint signaling;GO:0033314 mitotic DNA replication checkpoint signaling",
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"record_id": "Q9HAW4-1",
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},
{
"uniprot_canonical_ac": "Q8NE01-1",
"uniprot_id": [
{
"id": "CNNM3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NE01",
"type": "external"
}
],
"mass": 76119.0,
"length": 707,
"protein_name": "Metal transporter CNNM3",
"gene_name": "CNNM3",
"organism": "Human",
"refseq_name": "metal transporter CNNM3 isoform 1 precursor",
"refseq_ac": [
{
"id": "NP_060093",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060093",
"type": "external"
}
],
"gene_names_uniprotkb": "CNNM3; ACDP3",
"gene_names_refseq": "ACDP3; CNNM3; SLC70A3",
"protein_names_uniprotkb": "Metal transporter CNNM3; Ancient conserved domain-containing protein 3; Cyclin-M3",
"protein_names_refseq": "ancient conserved domain protein 3; ancient conserved domain-containing protein 3; cyclin-M3; metal transporter CNNM3 isoform 1 precursor; metal transporter CNNM3",
"tax_id": 9606,
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"pathway": " (hsa:26505)",
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"publication_id_list": "10.1101/2023.09.13.557529;12657465;18691976;19413330;19664994;20068231;23186163;23481700;24190977;24715725;25418920;25502872;25576301;25892735;26992070;27600516;28228285;28467828;28510447;28832583;28904123;29242379;29314611;29493099;29557506;29632711;29769354;29786170;30315122;31844290;32157095;32265295;32350084;32387766;32502341;32733084;32938616;33298915;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34357683;34433824;34561969;34797350;34928937;34932366;35051231;35154160;35251023;35580925;36010968;36284347",
"class_list": "",
"function": "A FRET-based screening method to detect potential inhibitors of the binding of CNNM3 to PRL2. Publication Status: Online-Only, [RefSeq, PubMed]; CNN3 in glioma: The prognostic factor and a potential immunotherapeutic target., [RefSeq, PubMed]; CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells. Publication Status: Online-Only, [RefSeq, PubMed]; Probable metal transporter., [UniProtKB]",
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"go_molecular_function": "GO:0022857 transmembrane transporter activity",
"go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane",
"go_biological_process": "GO:0006811 monoatomic ion transport;GO:0010960 magnesium ion homeostasis",
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},
{
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{
"id": "EVG1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9BZE7",
"type": "external"
}
],
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"protein_name": "UPF0193 protein EVG1",
"gene_name": "C22orf23",
"organism": "Human",
"refseq_name": "UPF0193 protein EVG1 isoform 2",
"refseq_ac": [
{
"id": "NP_001193991",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193991",
"type": "external"
}
],
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"gene_names_refseq": "C22orf23; EVG1; dJ1039K5.6",
"protein_names_uniprotkb": "UPF0193 protein EVG1",
"protein_names_refseq": "UPF0193 protein EVG1 isoform 2; UPF0193 protein EVG1",
"tax_id": 9606,
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"pathway": " (hsa:84645)",
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},
{
"uniprot_canonical_ac": "P16591-1",
"uniprot_id": [
{
"id": "FER_HUMAN",
"url": "https://www.uniprot.org/uniprot/P16591",
"type": "external"
}
],
"mass": 94638.0,
"length": 822,
"protein_name": "Tyrosine-protein kinase Fer",
"gene_name": "FER",
"organism": "Human",
"refseq_name": "tyrosine-protein kinase Fer isoform b",
"refseq_ac": [
{
"id": "NP_001294957",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294957",
"type": "external"
}
],
"gene_names_uniprotkb": "FER; TYK3",
"gene_names_refseq": "FER; PPP1R74; TYK3; p94-Fer",
"protein_names_uniprotkb": "Tyrosine-protein kinase Fer; 2.7.10.2; Feline encephalitis virus-related kinase FER; Fujinami poultry sarcoma/Feline sarcoma-related protein Fer; Proto-oncogene c-Fer; Tyrosine kinase 3; p94-Fer",
"protein_names_refseq": "feline encephalitis virus-related kinase FER; fer (fps/fes related) tyrosine kinase; fujinami poultry sarcoma/Feline sarcoma-related protein Fer; phosphoprotein NCP94; protein phosphatase 1, regulatory subunit 74; proto-oncogene c-Fer; tyrosine kinase 3; tyrosine-protein kinase Fer isoform b; tyrosine-protein kinase Fer",
"tax_id": 9606,
"disease": "stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); graft-versus-host disease (Disease Ontology:DOID:0081267); Alzheimer's disease (Disease Ontology:DOID:10652); primary biliary cholangitis (Disease Ontology:DOID:12236); alcoholic hepatitis (Disease Ontology:DOID:12351); toxic shock syndrome (Disease Ontology:DOID:14115); alcohol use disorder (Disease Ontology:DOID:1574); hepatitis (Disease Ontology:DOID:2237); endometriosis (Disease Ontology:DOID:289); IgA glomerulonephritis (Disease Ontology:DOID:2986); peripheral vascular disease (Disease Ontology:DOID:341); pancreatitis (Disease Ontology:DOID:4989); ureteral obstruction (Disease Ontology:DOID:5199); abdominal aortic aneurysm (Disease Ontology:DOID:7693); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:2241); (R-HSA-1433557)",
"pathway_count": 2,
"publication_count": 136,
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"class_list": "glycogene",
"function": "FER-mediated phosphorylation and PIK3R2 recruitment on IRS4 promotes AKT activation and tumorigenesis in ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Fer and FerT Govern Mitochondrial Susceptibility to Metformin and Hypoxic Stress in Colon and Lung Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of Fer Jeopardizes Metabolic Plasticity and Mitochondrial Homeostasis in Lung and Breast Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]., [RefSeq]; Transcription of the ferT gene in CC cells was found to be driven by an intronic promoter residing in intron 10 of the fer gene and to be regulated by the Brother of the Regulator of Imprinted Sites (BORIS) transcription factor., [RefSeq, PubMed]; Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF-kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream of the activated FCER1 receptor and plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Plays a role in the regulation of mast cell degranulation. Plays a role in leukocyte recruitment and diapedesis in response to bacterial lipopolysaccharide (LPS). Plays a role in synapse organization, trafficking of synaptic vesicles, the generation of excitatory postsynaptic currents and neuron-neuron synaptic transmission. Plays a role in neuronal cell death after brain damage. Phosphorylates CTTN, CTNND1, PTK2/FAK1, GAB1, PECAM1 and PTPN11. May phosphorylate JUP and PTPN1. Can phosphorylate STAT3, but the biological relevance of this depends on cell type and stimulus., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]",
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{
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{
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{
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{
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{
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{
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{
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{
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{
"id": "2.7.11.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23",
"type": "external"
}
],
"go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0008289 lipid binding;GO:0005154 epidermal growth factor receptor binding",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane",
"go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0006468 protein phosphorylation;GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation",
"synthesized_glycan_count": 0,
"hit_score": 13.9,
"record_id": "P16591-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9UKT8-1",
"uniprot_id": [
{
"id": "FBXW2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9UKT8",
"type": "external"
}
],
"mass": 51512.0,
"length": 454,
"protein_name": "F-box/WD repeat-containing protein 2",
"gene_name": "FBXW2",
"organism": "Human",
"refseq_name": "F-box/WD repeat-containing protein 2 isoform 1",
"refseq_ac": [
{
"id": "NP_036296",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_036296",
"type": "external"
}
],
"gene_names_uniprotkb": "FBXW2; FBW2; FWD2",
"gene_names_refseq": "FBW2; FBXW2; Fwd2; Md6",
"protein_names_uniprotkb": "F-box/WD repeat-containing protein 2; F-box and WD-40 domain-containing protein 2; Protein MD6",
"protein_names_refseq": "F-box and WD-40 domain protein 2; F-box and WD-40 domain-containing protein 2; F-box/WD repeat-containing protein 2 isoform 1; F-box/WD repeat-containing protein 2",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:26190); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)",
"pathway_count": 4,
"publication_count": 163,
"publication_id_list": "10531035;10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19608861;19617556;19748355;19851334;19874575;19940261;21098288;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24076655;24366543;24636985;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25531226;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;28218747;28228285;28514659;28832583;28904123;29153394;29437277;29769354;30315122;30379171;30410026;30610225;31217245;31844290;31848261;32005965;32157095;32161166;32284348;32938616;33444648;33717175;33912179;35051231;35499593;37736741;9380723;9668046;9790970;9819444;9887101;9891082",
"class_list": "",
"function": "F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]., [RefSeq]; FBXW2 inhibits prostate cancer proliferation and metastasis via promoting EGFR ubiquitylation and degradation. Publication Status: Online-Only, [RefSeq, PubMed]; FBXW2 suppresses breast tumorigenesis by targeting AKT-Moesin-SKP2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]",
"predicted_glycosites": 0,
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"reported_s_glycosites_with_glycan": 0,
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"reported_phosphosites": 0,
"reported_mutagensis": 0,
"reported_glycation": 0,
"reported_snv": 2,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
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"disease_count": 0,
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"secondary_ac_list": "B3KRL8;Q4VXH2;Q7Z4V6;Q8WV51;Q9HA09;Q9UKA3",
"ec_number_list": [],
"go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity",
"go_cellular_component": "GO:0005829 cytosol",
"go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0010564 regulation of cell cycle process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process",
"synthesized_glycan_count": 0,
"hit_score": 16.6,
"record_id": "Q9UKT8-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "P49356-1",
"uniprot_id": [
{
"id": "FNTB_HUMAN",
"url": "https://www.uniprot.org/uniprot/P49356",
"type": "external"
}
],
"mass": 48774.0,
"length": 437,
"protein_name": "Protein farnesyltransferase subunit beta",
"gene_name": "FNTB",
"organism": "Human",
"refseq_name": "CHURC1-FNTB protein isoform 2",
"refseq_ac": [
{
"id": "NP_001189487",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189487",
"type": "external"
}
],
"gene_names_uniprotkb": "FNTB",
"gene_names_refseq": "CHURC1-FNTB; FTase-beta",
"protein_names_uniprotkb": "Protein farnesyltransferase subunit beta; 2.5.1.58; CAAX farnesyltransferase subunit beta; FTase-beta; Ras proteins prenyltransferase subunit beta",
"protein_names_refseq": "CHURC1-FNTB protein isoform 2",
"tax_id": 9606,
"disease": "West syndrome (Disease Ontology:DOID:0050562); early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); developmental and epileptic encephalopathy 4 (Disease Ontology:DOID:0080436); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030)",
"pathway": " (hsa:100529261); (hsa:2342); (R-HSA-2514859); (R-HSA-9648002); (R-HSA-9679191); (R-HSA-9953170)",
"pathway_count": 6,
"publication_count": 194,
"publication_id_list": "10037746;10051575;10085068;10085069;10087012;10564809;10667208;10676965;11038283;11120601;11196150;11292825;11585916;11601986;11687658;11713293;11739732;11754336;12036349;12119397;12433685;12499365;12727204;12750467;12825937;1356371;1379636;1387789;1436039;14561760;14660603;14702087;14966563;15451670;15592455;15659645;15946941;16000296;16043511;16115318;16274222;16483930;16511497;16522641;16893176;16895762;16908407;17081983;17114291;17636946;17662961;18182391;18502828;18803695;19188362;19246009;19818506;1999465;20068231;20223979;20416930;20418879;20430952;20622895;20802526;20975703;21151871;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22401777;22552008;22589270;22658984;22721555;22814904;23514631;23641311;23698361;23943869;24033119;24272870;24584101;24714562;24725411;24971579;2540796;2550422;25548167;25550383;2558719;25645385;25713064;25759176;25781681;25801024;26002965;26085527;26154972;26375851;26590425;2661017;26701913;26706195;26771141;2682646;26992070;27094677;27396271;27410739;27600516;27697864;27791178;27862975;27893789;27920218;28167504;28218747;28425720;28630138;28645896;28666118;28778966;28832583;28834231;29242379;29311131;29331515;29424242;29437277;29557506;29786170;29945920;3006923;30201761;30315122;31048504;31091448;31268602;3164688;31844290;32157095;32357974;32488085;32502341;32510692;32581219;32877642;32938616;32983136;33592498;33876762;33912179;33968037;34171305;34561969;34932366;35051231;35580925;36284347;37938771;39394410;4772407;6264430;7512561;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8276393;8494894;8626439;8706659;8812493;8830800;9119368;9353336;9430683;9436858;9459445;9506952;9810004;9822558;9851253",
"class_list": "",
"function": "Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]., [RefSeq]",
"predicted_glycosites": 0,
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "B2RDX6;B4E1A0",
"ec_number_list": [
{
"id": "3.6.5.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2",
"type": "external"
},
{
"id": "3.6.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-",
"type": "external"
},
{
"id": "3.6.5.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-",
"type": "external"
},
{
"id": "2.5.1.58",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.58",
"type": "external"
},
{
"id": "2.5.1.59",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.59",
"type": "external"
}
],
"go_molecular_function": "GO:0004660 protein farnesyltransferase activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042277 peptide binding;GO:0010698 acetyltransferase activator activity",
"go_cellular_component": "GO:0005965 protein farnesyltransferase complex;GO:0005829 cytosol;GO:0005875 microtubule associated complex",
"go_biological_process": "GO:0006629 lipid metabolic process;GO:0008284 positive regulation of cell population proliferation;GO:0018343 protein farnesylation;GO:0045787 positive regulation of cell cycle;GO:0060632 regulation of microtubule-based movement",
"synthesized_glycan_count": 0,
"hit_score": 19.5,
"record_id": "P49356-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q6VAB6-1",
"uniprot_id": [
{
"id": "KSR2_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6VAB6",
"type": "external"
}
],
"mass": 107632.0,
"length": 950,
"protein_name": "Kinase suppressor of Ras 2",
"gene_name": "KSR2",
"organism": "Human",
"refseq_name": "kinase suppressor of Ras 2 isoform X3",
"refseq_ac": [
{
"id": "XP_011536527",
"url": "https://www.ncbi.nlm.nih.gov/protein/XP_011536527",
"type": "external"
}
],
"gene_names_uniprotkb": "KSR2",
"gene_names_refseq": "KSR2",
"protein_names_uniprotkb": "Kinase suppressor of Ras 2; 2.7.11.1; hKSR2",
"protein_names_refseq": "kinase suppressor of Ras 2 isoform X3",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:283455); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223)",
"pathway_count": 8,
"publication_count": 123,
"publication_id_list": "10209122;10409742;10725339;10891492;11325826;11802164;11802165;12068308;12473660;12479806;12832465;12975377;14636584;14970219;15035987;15118098;15239952;15260967;15520807;15543157;15547943;15630448;16039990;16135787;16364920;16508002;16702958;16879721;17018604;17145850;17178906;17344846;17496912;17563371;17603482;17603483;18287029;18559533;18562239;18974108;19091303;19219045;19242111;19279408;19467855;19933846;20052757;20130576;20141835;20179705;20526349;20818844;20858867;21107323;21424530;21441910;21514245;21639808;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22745804;22826437;23171796;23288408;23352452;23453624;23583981;23614898;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24345920;24651010;24746704;24937142;24957944;25195011;25204415;25313996;25435214;25907612;26214590;26811146;27227380;28904123;28939558;29393594;29433126;29467321;29632046;29632711;30034615;30794926;32357974;3287375;33298915;33592498;33912179;35051231;7565670;7565795;7731720;7929275;7935411;8051079;8157000;9020159;9733512;9858547",
"class_list": "",
"function": "Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 (PubMed:29433126). Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production., [UniProtKB, PubMed, PubMed, PubMed, PubMed]",
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"missing_score": 10000,
"biomarker_type": "",
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"secondary_ac_list": "A0PJT2;Q3B828;Q8N775",
"ec_number_list": [
{
"id": "2.7.11.1",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1",
"type": "external"
},
{
"id": "2.7.11.21",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21",
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{
"id": "2.7.12.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2",
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{
"id": "2.7.11.-",
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"type": "external"
},
{
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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4",
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},
{
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},
{
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{
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{
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{
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{
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},
{
"id": "2.7.11.39",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39",
"type": "external"
},
{
"id": "3.1.26.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-",
"type": "external"
},
{
"id": "2.7.11.22",
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"type": "external"
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{
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},
{
"id": "2.7.2.3",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3",
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},
{
"id": "3.6.5.2",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2",
"type": "external"
},
{
"id": "2.7.11.23",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23",
"type": "external"
},
{
"id": "2.7.1.40",
"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40",
"type": "external"
},
{
"id": "3.1.11.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-",
"type": "external"
},
{
"id": "2.7.4.6",
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"type": "external"
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],
"go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0031434 mitogen-activated protein kinase kinase binding",
"go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane",
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{
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"type": "external"
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"function": "Induces apoptosis., [UniProtKB, PubMed]; Long noncoding RNA SRY-box transcription factor 2 overlapping transcript participates in Parkinson's disease by regulating the microRNA-942-5p/nuclear apoptosis-inducing factor 1 axis., [RefSeq, PubMed]; MicroRNA-351 Promotes the Proliferation and Invasion of Glioma Cells through Downregulation of NAIF1. Erratum:[J Mol Neurosci. 2020 Oct;70(10):1500. doi: 10.1007/s12031-020-01655-z. PMID: 32662048], [RefSeq, PubMed]; NAIF1 (C9orf90)is a nuclear protein that induces apoptosis when overexpressed, [RefSeq, PubMed]; The functions of two transposon-derived human proteins: HARBI1, a domesticated transposase-derived protein, and NAIF1, which contains a trihelix motif similar to that described in the Myb-like protein, was investigated., [RefSeq, PubMed]",
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{
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{
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{
"id": "NP_001122322",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122322",
"type": "external"
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],
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"protein_names_refseq": "GTP-binding protein RAD; RAS (RAD and GEM) like GTP binding 3; RRAD, Ras related glycolysis inihibitor and calcium channel regulator; Ras-related associated with diabetes; ras associated with diabetes",
"tax_id": 9606,
"disease": "congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
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{
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{
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"protein_name": "Small ribosomal subunit protein eS28",
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{
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001022",
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"protein_names_refseq": "40S ribosomal protein S28; small ribosomal subunit protein eS28",
"tax_id": 9606,
"disease": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (Disease Ontology:DOID:0111894)",
"pathway": " (hsa:6234); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)",
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"function": "40S ribosomal protein S28 (RPS28) knockdown increases total peptide supply in uninfected cells by increasing DRiP synthesis from non-canonical translation of 'untranslated' regions and non-AUG start codons and sensitizes tumor cells for T cell targeting., [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome",
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"go_biological_process": "GO:0042254 ribosome biogenesis;GO:0006412 translation;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis",
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},
{
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{
"id": "CAGE1_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8TC20",
"type": "external"
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],
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"protein_name": "Cancer-associated gene 1 protein",
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"organism": "Human",
"refseq_name": "cancer-associated gene 1 protein isoform 1",
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{
"id": "NP_001164163",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164163",
"type": "external"
}
],
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"gene_names_refseq": "CAGE1; CT3; CT95; CTAG3; bA69L16.7",
"protein_names_uniprotkb": "Cancer-associated gene 1 protein; CAGE-1; CT3; Cancer/testis antigen 3",
"protein_names_refseq": "cancer-associated gene 1 protein isoform 1; cancer-associated gene 1 protein; cancer/testis antigen 3; cancer/testis antigen 95; cancer/testis antigen gene 1",
"tax_id": 9606,
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"function": "CAGE and miR-200b form a feedback regulatory loop., [RefSeq, PubMed]; CTSP-1 should be considered a promising candidate for cancer immunotherapy, [RefSeq, PubMed]; Identification and characterization of CAGE-1 gene; displays testis-specific expression among normal tissues, and wide expression among various cancer tissues and cancer cell lines, [RefSeq, PubMed]; The different patterns of aberrant methylation of the CAGE-1 gene in the various histopathological cancer types of the urinary bladder point to a role in tumor cell differentiation., [RefSeq, PubMed]; The present data suggest that promoter methylation of the 14-3-3 sigma and CAGE-1 genes plays a crucial role during the phenotypical morphogenesis of vesical adenocarcinomas including signet ring cell carcinomas by an epigenetic mechanism., [RefSeq, PubMed]",
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},
{
"uniprot_canonical_ac": "Q8IYE1-1",
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{
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{
"id": "NP_653320",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_653320",
"type": "external"
}
],
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"protein_names_refseq": "coiled-coil domain-containing protein 13",
"tax_id": 9606,
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"function": "Required for primary cilia formation and promotes the localization of the ciliopathy protein BBS4 to both centriolar satellites and cilia., [UniProtKB, PubMed]",
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"go_molecular_function": "GO:0008017 microtubule binding",
"go_cellular_component": "GO:0005813 centrosome;GO:0034451 centriolar satellite;GO:0097540 axonemal central pair",
"go_biological_process": "GO:0006974 DNA damage response;GO:1905515 non-motile cilium assembly;GO:0035082 axoneme assembly;GO:0031122 cytoplasmic microtubule organization",
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},
{
"uniprot_canonical_ac": "Q8NHZ8-1",
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{
"id": "CDC26_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q8NHZ8",
"type": "external"
}
],
"mass": 9777.0,
"length": 85,
"protein_name": "Anaphase-promoting complex subunit CDC26",
"gene_name": "CDC26",
"organism": "Human",
"refseq_name": "anaphase-promoting complex subunit CDC26",
"refseq_ac": [
{
"id": "NP_644815",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_644815",
"type": "external"
}
],
"gene_names_uniprotkb": "CDC26; ANAPC12; C9orf17",
"gene_names_refseq": "ANAPC12; APC12; C9orf17; CDC26",
"protein_names_uniprotkb": "Anaphase-promoting complex subunit CDC26; APC12; Anaphase-promoting complex subunit 12; Cell division cycle protein 26 homolog",
"protein_names_refseq": "CDC26 subunit of anaphase promoting complex; anaphase-promoting complex subunit 12; anaphase-promoting complex subunit CDC26; cell division cycle 26 homolog; cell division cycle protein 26 homolog",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:246184); (R-HSA-141430); (R-HSA-174048); (R-HSA-174084); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-176407); (R-HSA-176408); (R-HSA-176409); (R-HSA-176412); (R-HSA-179409); (R-HSA-2467813); (R-HSA-2559582); (R-HSA-68867); (R-HSA-69017); (R-HSA-8853884); (R-HSA-9687136); (R-HSA-983168)",
"pathway_count": 19,
"publication_count": 132,
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"function": "Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:18485873, PubMed:27120157, PubMed:27509861). Together with the RING-H2 protein ANAPC11, forms the catalytic component of the E3 ubiquitin ligase complex (PubMed:18485873, PubMed:27120157, PubMed:27509861). APC/C acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). APC/C catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). APC/C is activated by CDC20 in the metaphase/anaphase transition of cell cycle, targeting the degradation of cyclin B and securin (PubMed:27120157, PubMed:27509861). APC/C is regulated by the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation (PubMed:27509861). May recruit the E2 ubiquitin-conjugating enzymes to the complex (PubMed:18485873)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex",
"go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0031145 anaphase-promoting complex-dependent catabolic process;GO:0070979 protein K11-linked ubiquitination;GO:0070936 protein K48-linked ubiquitination",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/P08571",
"type": "external"
}
],
"mass": 40076.0,
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"protein_name": "Monocyte differentiation antigen CD14",
"gene_name": "CD14",
"organism": "Human",
"refseq_name": "monocyte differentiation antigen CD14 precursor",
"refseq_ac": [
{
"id": "NP_000582",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000582",
"type": "external"
}
],
"gene_names_uniprotkb": "CD14",
"gene_names_refseq": "CD14",
"protein_names_uniprotkb": "Monocyte differentiation antigen CD14; My23 antigen; Myeloid cell-specific leucine-rich glycoprotein",
"protein_names_refseq": "monocyte differentiation antigen CD14 precursor; monocyte differentiation antigen CD14; my23 antigen; myeloid cell-specific leucine-rich glycoprotein",
"tax_id": 9606,
"disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); Hirschsprung's disease (Disease Ontology:DOID:10487); celiac disease (Disease Ontology:DOID:10608); hypertension (Disease Ontology:DOID:10763); sarcoidosis (Disease Ontology:DOID:11335); allergic disease (Disease Ontology:DOID:1205); primary biliary cholangitis (Disease Ontology:DOID:12236); cholestasis (Disease Ontology:DOID:13580); obstructive jaundice (Disease Ontology:DOID:13603); biliary atresia (Disease Ontology:DOID:13608); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); rhinitis (Disease Ontology:DOID:4483); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); periodontitis (Disease Ontology:DOID:824); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 1 diabetes mellitus (Disease Ontology:DOID:9744)",
"pathway": " (hsa:929); (R-HSA-1236974); (R-HSA-140534); (R-HSA-166016); (R-HSA-166020); (R-HSA-166058); (R-HSA-166166); (R-HSA-168179); (R-HSA-168188); (R-HSA-2562578); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-936964); (R-HSA-937041); (R-HSA-937072); (R-HSA-975163); (R-HSA-9820960); (R-HSA-9824878); (R-HSA-9833110); (R-HSA-9918485)",
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"class_list": "",
"function": "Association analysis between CD14 gene polymorphisms and peri-implantitis susceptibility in a Chinese population., [RefSeq, PubMed]; CD14 Polymorphism Is Not Associated with SARS-CoV-2 Infection in Central European Population., [RefSeq, PubMed]; CD14 is a decision-maker between Fas-mediated death and inflammation., [RefSeq, PubMed]; Coreceptor for bacterial lipopolysaccharide (PubMed:1698311, PubMed:23264655). In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:20133493, PubMed:22265692, PubMed:23264655). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:8612135). Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide, and to viruses. This gene has been identified as a target candidate in the treatment of SARS-CoV-2-infected patients to potentially lessen or inhibit a severe inflammatory response. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2020]., [RefSeq]; The role of CD14 and CSF1R in osteoarthritis and gastritis., [RefSeq, PubMed]; Virion-incorporated CD14 enables HIV-1 to bind LPS and initiate TLR4 signaling in immune cells., [RefSeq, PubMed]",
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"secondary_ac_list": "Q53XT5;Q96FR6;Q96L99;Q9UNS3",
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"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0045121 membrane raft",
"go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0045087 innate immune response;GO:0006909 phagocytosis;GO:0006915 apoptotic process",
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},
{
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{
"id": "CMI2C_HUMAN",
"url": "https://www.uniprot.org/uniprot/A6NJV1",
"type": "external"
}
],
"mass": 23421.0,
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"protein_name": "Ciliary microtubule inner protein 2C",
"gene_name": "CIMIP2C",
"organism": "Human",
"refseq_name": "ciliary microtubule inner protein 2C isoform 1",
"refseq_ac": [
{
"id": "NP_001098989",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098989",
"type": "external"
}
],
"gene_names_uniprotkb": "CIMIP2C; C2orf70; FAM166C",
"gene_names_refseq": "C2orf70; CIMIP2C; FAM166C",
"protein_names_uniprotkb": "Ciliary microtubule inner protein 2C",
"protein_names_refseq": "UPF0573 protein C2orf70; ciliary microtubule inner protein 2C isoform 1; family with sequence similarity 166 member C; protein FAM166C",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:339778)",
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"publication_count": 3,
"publication_id_list": "11237011;29632711;36191189",
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"function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Binds to the intra-tubulin interfaces (By similarity)., [UniProtKB, PubMed, UniProtKB]",
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"go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath",
"go_biological_process": "GO:0030317 flagellated sperm motility",
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{
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{
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"protein_name": "Complement factor B",
"gene_name": "CFB",
"organism": "Human",
"refseq_name": "complement factor B preproprotein",
"refseq_ac": [
{
"id": "NP_001701",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001701",
"type": "external"
}
],
"gene_names_uniprotkb": "CFB; BFD; BF",
"gene_names_refseq": "AHUS4; ARMD14; BFD; BF; CFAB; CFBD; CFB; FBI12; FB; GBG; H2-Bf; PBF2",
"protein_names_uniprotkb": "Complement factor B; 3.4.21.47; C3/C5 convertase; GBG; Glycine-rich beta glycoprotein; PBF2; Properdin factor B",
"protein_names_refseq": "B-factor, properdin; C3 proaccelerator; C3 proactivator; C3/C5 convertase; complement factor B preproprotein; glycine-rich beta-glycoprotein; properdin B; properdin factor B",
"tax_id": 9606,
"disease": "sinusitis (Disease Ontology:DOID:0050127); lupus nephritis (Disease Ontology:DOID:0080162); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); polycystic kidney disease (Disease Ontology:DOID:0080322); erythema nodosum (Disease Ontology:DOID:0080750); age related macular degeneration 7 (Disease Ontology:DOID:0110019); age related macular degeneration 14 (Disease Ontology:DOID:0110026); lepromatous leprosy (Disease Ontology:DOID:10887); sickle cell anemia (Disease Ontology:DOID:10923); membranous glomerulonephritis (Disease Ontology:DOID:10976); pyelonephritis (Disease Ontology:DOID:11400); factor VIII deficiency (Disease Ontology:DOID:12134); beta thalassemia (Disease Ontology:DOID:12241); paracoccidioidomycosis (Disease Ontology:DOID:12662); Behcet's disease (Disease Ontology:DOID:13241); anterior uveitis (Disease Ontology:DOID:1407); boutonneuse fever (Disease Ontology:DOID:14095); breast cancer (Disease Ontology:DOID:1612); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); IgA glomerulonephritis (Disease Ontology:DOID:2986); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); conjunctivitis (Disease Ontology:DOID:6195); end stage renal disease (Disease Ontology:DOID:783); retinal degeneration (Disease Ontology:DOID:8466); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); atypical hemolytic-uremic syndrome with B factor anomaly (MONDO:MONDO:0013042); complement factor b deficiency (MONDO:MONDO:0014255)",
"pathway": " (hsa:629); (R-HSA-173736); (R-HSA-174577); (R-HSA-977606)",
"pathway_count": 4,
"publication_count": 138,
"publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10531307;10637221;1067618;11237011;11694537;11939578;12055245;12878586;1386357;14656967;15016353;15068800;15199963;16079145;16192651;16301317;16335952;16518403;16999828;17182573;17182750;17310251;17505110;17989688;19159218;19503103;19574954;2006911;20513133;21205667;21788512;2249879;22802338;23487775;24152280;2420889;24530628;2465906;2466593;2481448;25813380;26375851;268620;27397612;27452731;27726376;279011;28264884;28411811;28514659;29242379;293688;293746;29557506;2956252;29632711;29649283;29671580;2971659;29741879;29786170;301546;30459171;30484775;3052276;30643019;30833945;31507604;31844290;31848261;32065623;32125861;32157095;32350084;32488085;32938616;32983136;33392160;33968037;3421908;3486249;35051231;35251023;35494241;35580925;36127336;3638964;3643061;36805858;37074911;37080587;37098439;3848661;4098172;6214588;6219696;6222381;6230668;6238120;624565;6308626;6323161;6334079;6342610;6454142;6546754;6554279;6607952;6707020;670886;6769474;6906228;6912277;6919543;6957884;702059;7391570;7542572;760802;761607;7690834;7691959;809512;8181962;8225386;8247029;82604;8345200;8495193;874324;8786315;9038722;9171898;950465;9748277;978134",
"class_list": "",
"function": "Defective microbial sensing and clearance in perianal Crohn's disease: a role for complement factor B., [RefSeq, PubMed]; Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis., [RefSeq, PubMed]; Involved in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. The alternative complement pathway acts as an amplification loop that enhances other complement pathways (classical, lectin and GZMK) by promoting formation of additional C3 and C5 convertases. CFB is cleaved and activated by CFD to generate Ba and Bb chains; Bb chain constituting the catalytic component of the C3 and C5 convertases., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Serine protease component of the complement C3 and C5 convertase complexes of the alternative complement pathway. Following cleavage and activation by factor D (CFD), forms the C3 convertase together with complement C3b. As part of the C3 convertase, cleaves and activates C3 into C3a anaphylatoxin and C3b opsonin, the next components of the complement pathways. When an additional complement C3b molecule binds to the C3 convertase, forms the C5 convertase, which cleaves and activates C5 into C5a anaphylatoxin and C5b component of the membrane attack complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection., [RefSeq, PubMed]; This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"secondary_ac_list": "B0QZQ6;O15006;Q29944;Q53F89;Q5JP67;Q5ST50;Q96HX6;Q9BTF5;Q9BX92",
"ec_number_list": [
{
"id": "3.4.21.46",
"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46",
"type": "external"
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{
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"url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.47",
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{
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],
"go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0001848 complement binding",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome",
"go_biological_process": "GO:0006508 proteolysis;GO:0009617 response to bacterium;GO:0006957 complement activation, alternative pathway",
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},
{
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{
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"url": "https://www.uniprot.org/uniprot/Q7RTY0",
"type": "external"
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],
"mass": 44992.0,
"length": 426,
"protein_name": "Monocarboxylate transporter 13",
"gene_name": "SLC16A13",
"organism": "Human",
"refseq_name": "monocarboxylate transporter 13",
"refseq_ac": [
{
"id": "NP_963860",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_963860",
"type": "external"
}
],
"gene_names_uniprotkb": "SLC16A13; MCT13",
"gene_names_refseq": "MCT13; SLC16A13",
"protein_names_uniprotkb": "Monocarboxylate transporter 13; MCT 13; Solute carrier family 16 member 13",
"protein_names_refseq": "MCT 13; monocarboxylate transporter 13; monocarboxylic acid transporter 13; solute carrier family 16 (monocarboxylic acid transporters), member 13",
"tax_id": 9606,
"disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)",
"pathway": " (hsa:201232)",
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"publication_id_list": "12739169;23945395;24390345;26375851;28904123;29557506;33592498;34257700;35051231",
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"function": "Data identified three new loci for type 2 diabetes with genome-wide significance: MIR129-LEP, GPSM1 and SLC16A13., [RefSeq, PubMed]; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane., [UniProtKB, PubMed]; The Association between the rs312457 Genotype of the SLC16a13 Gene and Diabetes Mellitus in a Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0015293 symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity",
"go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane",
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},
{
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{
"id": "TSG6_HUMAN",
"url": "https://www.uniprot.org/uniprot/P98066",
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],
"mass": 31203.0,
"length": 277,
"protein_name": "Tumor necrosis factor-inducible gene 6 protein",
"gene_name": "TNFAIP6",
"organism": "Human",
"refseq_name": "tumor necrosis factor-inducible gene 6 protein precursor",
"refseq_ac": [
{
"id": "NP_009046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009046",
"type": "external"
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],
"gene_names_uniprotkb": "TNFAIP6; TSG6",
"gene_names_refseq": "TNFAIP6; TSG-6; TSG6",
"protein_names_uniprotkb": "Tumor necrosis factor-inducible gene 6 protein; 3.1.1.-; Hyaluronate-binding protein; TNF alpha-induced protein 6; TNF-stimulated gene 6 protein; TSG-6; Tumor necrosis factor alpha-induced protein 6",
"protein_names_refseq": "TNF-stimulated gene 6 protein; hyaluronate-binding protein; tumor necrosis factor alpha-inducible protein 6; tumor necrosis factor, alpha induced protein 6; tumor necrosis factor-inducible gene 6 protein precursor; tumor necrosis factor-inducible gene 6 protein; tumor necrosis factor-stimulated gene-6 protein",
"tax_id": 9606,
"disease": "corneal neovascularization (Disease Ontology:DOID:11382); atopic dermatitis (Disease Ontology:DOID:3310); conjunctival disease (Disease Ontology:DOID:4251)",
"pathway": " (hsa:7130); (R-HSA-6798695)",
"pathway_count": 2,
"publication_count": 30,
"publication_id_list": "11854277;15060082;15183770;15917224;16771708;16873769;17287340;1730767;17322306;18042364;18586671;20463016;23650620;24501198;26468290;26823460;27044744;29242379;32350084;32983136;33043033;35051231;35251023;37948519;37958918;38151073;38376551;7516184;8692836;8797823",
"class_list": "",
"function": "DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6. Publication Status: Online-Only, [RefSeq, PubMed]; Endogenous TSG-6 modulates corneal inflammation following chemical injury., [RefSeq, PubMed]; Human Synovial Mesenchymal Stem Cells Expressed Immunoregulatory Factors IDO and TSG6 in a Context of Arthritis Mediated by Alphaviruses. Publication Status: Online-Only, [RefSeq, PubMed]; Major regulator of extracellular matrix organization during tissue remodeling (PubMed:15917224, PubMed:18042364, PubMed:26823460). Catalyzes the transfer of a heavy chain (HC) from inter-alpha-inhibitor (I-alpha-I) complex to hyaluronan. Cleaves the ester bond between the C-terminus of the HC and GalNAc residue of the chondroitin sulfate chain in I-alpha-I complex followed by transesterification of the HC to hyaluronan. In the process, potentiates the antiprotease function of I-alpha-I complex through release of free bikunin (PubMed:15917224, PubMed:16873769, PubMed:20463016). Acts as a catalyst in the formation of hyaluronan-HC oligomers and hyaluronan-rich matrix surrounding the cumulus cell-oocyte complex, a necessary step for oocyte fertilization (PubMed:26468290). Assembles hyaluronan in pericellular matrices that serve as platforms for receptor clustering and signaling. Enables binding of hyaluronan deposited on the surface of macrophages to LYVE1 on lymphatic endothelium and facilitates macrophage extravasation. Alters hyaluronan binding to functionally latent CD44 on vascular endothelium, switching CD44 into an active state that supports leukocyte rolling (PubMed:15060082, PubMed:26823460). Modulates the interaction of chemokines with extracellular matrix components and proteoglycans on endothelial cell surface, likely preventing chemokine gradient formation (PubMed:27044744). In a negative feedback mechanism, may limit excessive neutrophil recruitment at inflammatory sites by antagonizing the association of CXCL8 with glycosaminoglycans on vascular endothelium (PubMed:24501198). Has a role in osteogenesis and bone remodeling. Inhibits BMP2-dependent differentiation of mesenchymal stem cell to osteoblasts (PubMed:16771708, PubMed:18586671). Protects against bone erosion during inflammation by inhibiting TNFSF11/RANKL-dependent osteoclast activation (PubMed:18586671)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TWIST1 and TSG6 are coordinately regulated and function as potency biomarkers in human MSCs., [RefSeq, PubMed]; The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]., [RefSeq]",
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{
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},
{
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],
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{
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],
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"go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol",
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"tax_id": 9606,
"disease": "",
"pathway": " (hsa:84674)",
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"function": "CARD6 is a regulator of NF-kappaB activation that modulates the functions of RICK protein, [RefSeq, PubMed]; Data show that NOD-like receptor signaling genes NOD2, PYCARD, CARD6, and IFI16 are upregulated in psoriatic epidermis. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome-transmitted circ-CARD6 facilitates posterior capsule opacification development by miR-31/FGF7 axis., [RefSeq, PubMed]; Expression markedly reduced in nonalcoholic fatty liver disease livers, [RefSeq, PubMed]; Identification as a modulator of NF-kappa B activation by Nod1- and Cardiak-mediated pathways, [RefSeq, PubMed]; May be involved in apoptosis., [UniProtKB]; Review of the regulation of interactions of CARD6 with RICK and microtubules [review] Review article, [RefSeq, PubMed]; The increased expression of CARD6 in esophageal squamous cell carcinoma,gastric and colorectal adenocarcinoma suggested that neoexpression of CARD6 might be related to activation of NF-kappaB pathway., [RefSeq, PubMed]; This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]., [RefSeq]",
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{
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"protein_name": "Voltage-dependent calcium channel gamma-8 subunit",
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"organism": "Human",
"refseq_name": "voltage-dependent calcium channel gamma-8 subunit",
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{
"id": "NP_114101",
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],
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"protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-8 subunit; Neuronal voltage-gated calcium channel gamma-8 subunit; TARP gamma-8; Transmembrane AMPAR regulatory protein gamma-8",
"protein_names_refseq": "TARP gamma-8; calcium channel, voltage-dependent, gamma subunit 8; neuronal voltage-gated calcium channel gamma-8 subunit; transmembrane AMPAR regulatory protein gamma-8; voltage-dependent calcium channel gamma-8 subunit",
"tax_id": 9606,
"disease": "antisocial personality disorder (Disease Ontology:DOID:10939); dilated cardiomyopathy (Disease Ontology:DOID:12930)",
"pathway": " (hsa:59283); (R-HSA-399719); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-5682910)",
"pathway_count": 5,
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"publication_id_list": "10.1101/2023.09.13.557529;10646604;11170751;11237011;11290418;11738816;1309946;14500339;15000524;16990550;17387609;18093912;18184654;18311135;18628660;18974846;19406745;20162351;20220021;20461023;20805473;21127204;21172611;21566136;21817159;21829378;22054663;22514276;23481700;23804213;24591645;25495042;25966690;27102562;29557506;32938616;34099816;34405274;35051231;36031768;36490268;8107964",
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"function": "Deficiency of transmembrane AMPA receptor regulatory protein gamma-8 leads to attention-deficit hyperactivity disorder-like behavior in mice., [RefSeq, PubMed]; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits., [UniProtKB, PubMed, UniProtKB, PubMed]; Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits., [UniProtKB, UniProtKB]; SNP rs10420324 in the AMPA receptor auxiliary subunit TARP gamma-8 regulates the susceptibility to antisocial personality disorder. Publication Status: Online-Only, [RefSeq, PubMed]; The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]., [RefSeq]; These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes. Publication Status: Online-Only, [RefSeq, PubMed]",
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"protein_name": "Coiled-coil domain-containing protein 127",
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"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 127",
"refseq_ac": [
{
"id": "NP_660308",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_660308",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC127",
"gene_names_refseq": "CCDC127",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 127",
"protein_names_refseq": "coiled-coil domain-containing protein 127",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:133957)",
"pathway_count": 1,
"publication_count": 50,
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"class_list": "",
"function": "A luciferase reporter gene assay revealed that hsp70 promoter activation is enhanced by the transcriptional co-activator AF9 and splicing mediator SNRPE, but suppressed by the coiled-coil domain-containing protein CCDC127., [RefSeq, PubMed]; Regulates lipid droplet homeostasis. May be involved in the adipocyte differentiation., [UniProtKB, PubMed]",
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"go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane",
"go_biological_process": "GO:0055088 lipid homeostasis",
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},
{
"uniprot_canonical_ac": "Q86UT8-1",
"uniprot_id": [
{
"id": "CATAC_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86UT8",
"type": "external"
}
],
"mass": 37974.0,
"length": 332,
"protein_name": "Centrosomal AT-AC splicing factor",
"gene_name": "CENATAC",
"organism": "Human",
"refseq_name": "centrosomal AT-AC splicing factor",
"refseq_ac": [
{
"id": "NP_940891",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_940891",
"type": "external"
}
],
"gene_names_uniprotkb": "CENATAC; CCDC84; DLNB14",
"gene_names_refseq": "CCDC84; CENATAC; DLNB14; MVA4",
"protein_names_uniprotkb": "Centrosomal AT-AC splicing factor; Coiled-coil domain-containing protein 84",
"protein_names_refseq": "centrosomal AT-AC splicing factor; coiled-coil domain containing 84; coiled-coil domain-containing protein 84",
"tax_id": 9606,
"disease": "mosaic variegated aneuploidy syndrome 4 (Disease Ontology:DOID:0060981)",
"pathway": " (hsa:338657)",
"pathway_count": 1,
"publication_count": 25,
"publication_id_list": "11237011;23481700;24129315;24715725;25645385;26768311;28832583;29242379;29493099;30379171;31722219;31844290;31998317;32357974;32387766;32938616;33141586;33298915;33592498;33936100;33968037;34009673;34405274;34509645;35051231",
"class_list": "",
"function": "CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation., [RefSeq, PubMed]; Chromosomal instability by mutations in the novel minor spliceosome component CENATAC., [RefSeq, PubMed]; Component of the minor spliceosome that promotes splicing of a specific, rare minor intron subtype (PubMed:34009673). Negative regulator of centrosome duplication (PubMed:31722219). Constrains centriole number by modulating the degradation of the centrosome-duplication-associated protein SASS6 in an acetylation-dependent manner. SIRT1 deacetylates CENATAC in G1 phase, allowing for SASS6 accumulation on the centrosome and subsequent procentriole assembly. The CENATAC acetylation level is restored in mitosis by NAT10, promoting SASS6 proteasome degradation by facilitating SASS6 binding to APC/C E3 ubiquitin-protein ligase complex/FZR1 (PubMed:31722219)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]",
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"go_cellular_component": "GO:0005813 centrosome",
"go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0051304 chromosome separation;GO:0042176 regulation of protein catabolic process;GO:0010826 negative regulation of centrosome duplication",
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},
{
"uniprot_canonical_ac": "Q6NSX1-1",
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{
"id": "CCD70_HUMAN",
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"type": "external"
}
],
"mass": 27455.0,
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"protein_name": "Coiled-coil domain-containing protein 70",
"gene_name": "CCDC70",
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"refseq_name": "coiled-coil domain-containing protein 70",
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{
"id": "NP_001333004",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333004",
"type": "external"
}
],
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"protein_names_refseq": "coiled-coil domain-containing protein 70",
"tax_id": 9606,
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},
{
"uniprot_canonical_ac": "Q6YHK3-1",
"uniprot_id": [
{
"id": "CD109_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q6YHK3",
"type": "external"
}
],
"mass": 161689.0,
"length": 1445,
"protein_name": "CD109 antigen",
"gene_name": "CD109",
"organism": "Human",
"refseq_name": "CD109 antigen isoform 2 preproprotein",
"refseq_ac": [
{
"id": "NP_001153059",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153059",
"type": "external"
}
],
"gene_names_uniprotkb": "CD109; CPAMD7",
"gene_names_refseq": "CD109; CPAMD7; HPA-15; p180; r150",
"protein_names_uniprotkb": "CD109 antigen; 150 kDa TGF-beta-1-binding protein; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; Platelet-specific Gov antigen; p180; r150",
"protein_names_refseq": "150 kDa TGF-beta-1-binding protein; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; CD109 antigen isoform 2 preproprotein; CD109 antigen; Gov platelet alloantigens; activated T-cell marker CD109; human platelet antigen 15; platelet-specific Gov antigen",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:135228); (R-HSA-114608); (R-HSA-163125)",
"pathway_count": 3,
"publication_count": 97,
"publication_id_list": "37268159;10.1101/2023.09.13.557529;11072085;11861284;11861285;1435334;14630798;14980714;15297306;16263699;16335952;16754747;16959974;19159218;19349973;19413330;1984805;20068231;23090970;23345538;23640497;24190977;2443973;24715725;25576301;25645385;25787250;25892735;26375851;26992070;27600516;27846572;28467828;28832583;28904123;29242379;29331515;29391424;29393594;29557506;29632046;29741879;29769354;29786170;30429286;30451992;30779550;30833945;31020640;31154438;31844290;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33981976;34019948;34078123;34087483;34171305;34185709;3422494;34357683;34405274;34509645;34932366;35051231;35154160;35289036;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36929132;37030166;37074911;37217939;37373457;37661780;37938771;40596516;6457647;8467233",
"class_list": "",
"function": "A tyrosine703serine polymorphism of CD109 defines the Gov platelet alloantigens., [RefSeq, PubMed]; CD109 Promotes Drug Resistance in A2780 Ovarian Cancer Cells by Regulating the STAT3-NOTCH1 Signaling Axis. Publication Status: Online-Only, [RefSeq, PubMed]; CD109-regulated mechanical properties of endothelial cells., [RefSeq, PubMed]; Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins. cDNA sequence determination and protein structure analysis given., [RefSeq, PubMed]; H3K27 acetylation activated-CD109 evokes 5-fluorouracil resistance in gastric cancer via the JNK/MAPK signaling pathway., [RefSeq, PubMed]; Modulates negatively TGFB1 signaling in keratinocytes., [UniProtKB, PubMed]; Significance of expression of CD109 in osteosarcoma and its involvement in tumor progression via BMP signaling., [RefSeq, PubMed]; This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]",
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"ec_number_list": [],
"go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity",
"go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031092 platelet alpha granule membrane",
"go_biological_process": "GO:0061045 negative regulation of wound healing;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway",
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},
{
"uniprot_canonical_ac": "Q76M96-1",
"uniprot_id": [
{
"id": "CCD80_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q76M96",
"type": "external"
}
],
"mass": 108174.0,
"length": 950,
"protein_name": "Coiled-coil domain-containing protein 80",
"gene_name": "CCDC80",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 80 precursor",
"refseq_ac": [
{
"id": "NP_955805",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_955805",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC80; DRO1; HBE245; URB",
"gene_names_refseq": "CCDC80; CL2; DRO1; LINC01279; SSG1; URB; okuribin",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 80; Down-regulated by oncogenes protein 1; Up-regulated in BRS-3 deficient mouse homolog",
"protein_names_refseq": "TCONS_00006930; coiled-coil domain-containing protein 80 precursor; coiled-coil domain-containing protein 80; down-regulated by oncogenes protein 1; long intergenic non-protein coding RNA 1279; nuclear envelope protein okuribin; steroid sensitive gene 1; up-regulated in BRS-3 deficient mouse homolog",
"tax_id": 9606,
"disease": "pulmonary hypertension (Disease Ontology:DOID:6432)",
"pathway": " (hsa:151887)",
"pathway_count": 1,
"publication_count": 34,
"publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;15325258;15563452;15998583;23481700;23584533;25218447;25576301;25813380;29557506;29741879;30106115;30429286;30459171;31844290;32157095;32897882;32938616;33592498;33676388;33968037;34019948;34507839;35051231;35422964;35580925;36010968;36284347;37074911;38665916;38872096",
"class_list": "",
"function": "Downregulated during osteoblastic differentiation of bone marrow stromal cells. Suggests role in skeletogenesis., [RefSeq, PubMed]; LINC01279 and MSC-AS1 were upregulated in endometriosis. LINC01279 may be associated with the pathogenesis of endometriosis., [RefSeq, PubMed]; Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma asprosin, CCDC80 and ANGPTL4 levels are associated with metabolic and cardiovascular risk in patients with inflammatory bowel disease., [RefSeq, PubMed]; Promotes cell adhesion and matrix assembly., [UniProtKB]; Silencing immune-infiltrating biomarker CCDC80 inhibits malignant characterization and tumor formation in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of long non-coding RNA LINC01279 in gastric adenocarcinoma and its clinical significance., [RefSeq, PubMed]; URB is expressed in human dermal papilla cells, [RefSeq, PubMed]",
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"go_molecular_function": "GO:0008201 heparin binding;GO:0001968 fibronectin binding",
"go_cellular_component": "GO:0005604 basement membrane;GO:0005614 interstitial matrix",
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},
{
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{
"id": "CC190_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q86UF4",
"type": "external"
}
],
"mass": 34103.0,
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"protein_name": "Coiled-coil domain-containing protein 190",
"gene_name": "CCDC190",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 190 isoform 2",
"refseq_ac": [
{
"id": "NP_848645",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_848645",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC190; C1orf110",
"gene_names_refseq": "C1orf110; CCDC190",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 190",
"protein_names_refseq": "coiled-coil domain-containing protein 190 isoform 2; coiled-coil domain-containing protein 190",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:339512)",
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"class_list": "",
"function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]",
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],
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{
"uniprot_canonical_ac": "Q96KX2-1",
"uniprot_id": [
{
"id": "CAZA3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q96KX2",
"type": "external"
}
],
"mass": 35025.0,
"length": 299,
"protein_name": "F-actin-capping protein subunit alpha-3",
"gene_name": "CAPZA3",
"organism": "Human",
"refseq_name": "F-actin-capping protein subunit alpha-3",
"refseq_ac": [
{
"id": "NP_201585",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_201585",
"type": "external"
}
],
"gene_names_uniprotkb": "CAPZA3; CAPAA3; GSG3",
"gene_names_refseq": "CAPPA3; CAPZA3; Gsg3; HEL-S-86",
"protein_names_uniprotkb": "F-actin-capping protein subunit alpha-3; CP-alpha-3; CapZ alpha-3; Germ cell-specific protein 3",
"protein_names_refseq": "CP-alpha-3; CapZ alpha-3; F-actin capping protein alpha-3 subunit; F-actin-capping protein subunit alpha-3; capping actin protein of muscle Z-line alpha subunit 3; capping protein (actin filament) muscle Z-line, alpha 3; epididymis secretory protein Li 86; germ cell-specific protein 3; testis tissue sperm-binding protein Li 73n",
"tax_id": 9606,
"disease": "male infertility (Disease Ontology:DOID:12336)",
"pathway": " (hsa:93661); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6807878); (R-HSA-6811436)",
"pathway_count": 5,
"publication_count": 258,
"publication_id_list": "10036229;10052452;10064083;10072072;10318838;10359595;10445031;10480952;10540230;10559959;10559986;10562278;10593899;10631941;10631952;10639150;10679020;10747884;10748235;10761932;10809954;10903204;10921873;11035033;11080672;11172815;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11790530;11813165;11853874;12029070;12047556;12070132;12078484;12198549;12388752;12401177;12432908;12447383;12634853;12742663;12748383;12781197;12925777;13486053;14654841;14731593;14742712;1493716;15037235;15159550;15381148;15483056;15591061;15616190;15632110;15728195;15749704;15813748;15878873;15911768;15914536;16030262;16181339;16207721;16242130;1631136;16314391;16403413;16618111;16633337;16723730;1680566;16824007;16912714;16926190;16940185;17142755;17253781;17274799;17283181;17360540;17429068;17451557;17488286;17591767;17760859;17804755;17827179;17927562;17956946;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18524849;18635947;18641641;18664496;18809720;1898986;19015319;19109418;19164740;19296914;19359544;1956401;19564404;1957170;19631211;19635840;19753100;19758564;19913121;19922875;20006655;20038533;20068230;20072699;20357002;20420828;20427317;20628086;20637885;21116285;21158691;21173190;21183720;2121367;21219331;21376746;21441454;21689688;21700222;21796517;21844168;2190094;22011577;22013193;22094269;22130221;22266222;22304919;22318716;22433123;22562055;22791416;23333653;23783758;23839779;2391366;24012426;24119662;24366607;24694367;24806965;24891604;25233431;25436559;25453831;25492864;26073023;26203193;26313416;27462449;27663436;28083797;28301631;28755533;28919297;29393594;30197098;31110491;31141847;31731497;31826031;32016915;32320027;32448030;32544881;32982970;33392160;6645495;6891012;7481823;7592972;7650016;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8636227;8642258;8687433;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9075930;9114004;9150144;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9990005",
"class_list": "",
"function": "Capping protein alpha3 may play a physiologically important role in sperm architecture as well as in fertility of the human male., [RefSeq, PubMed]; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity)., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]., [RefSeq]",
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"biomarker_type": "",
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"secondary_ac_list": "Q969J0",
"ec_number_list": [],
"go_molecular_function": "GO:0051015 actin filament binding",
"go_cellular_component": "GO:0061827 sperm head;GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0008290 F-actin capping protein complex",
"go_biological_process": "GO:0007015 actin filament organization;GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping",
"synthesized_glycan_count": 0,
"hit_score": 26.1,
"record_id": "Q96KX2-1",
"record_type": "protein",
"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9NVE4-1",
"uniprot_id": [
{
"id": "CCD87_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9NVE4",
"type": "external"
}
],
"mass": 96402.0,
"length": 849,
"protein_name": "Coiled-coil domain-containing protein 87",
"gene_name": "CCDC87",
"organism": "Human",
"refseq_name": "coiled-coil domain-containing protein 87",
"refseq_ac": [
{
"id": "NP_060689",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_060689",
"type": "external"
}
],
"gene_names_uniprotkb": "CCDC87",
"gene_names_refseq": "CCDC87",
"protein_names_uniprotkb": "Coiled-coil domain-containing protein 87",
"protein_names_refseq": "coiled-coil domain-containing protein 87",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:55231)",
"pathway_count": 1,
"publication_count": 13,
"publication_id_list": "18691976;23271734;25880248;28228285;29557506;31492838;31844290;32387766;33298915;33912179;35051231;35580925;36215666",
"class_list": "",
"function": "Plays a role in spermatogenesis, where it is important for normal sperm head morphology. Also required for the acrosome reaction and thus normal male fertility., [UniProtKB, UniProtKB]",
"predicted_glycosites": 0,
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"secondary_ac_list": "Q8NE76",
"ec_number_list": [],
"go_molecular_function": "",
"go_cellular_component": "",
"go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007338 single fertilization;GO:1905516 positive regulation of fertilization",
"synthesized_glycan_count": 0,
"hit_score": 1.6,
"record_id": "Q9NVE4-1",
"record_type": "protein",
"filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9P1Y5-1",
"uniprot_id": [
{
"id": "CAMP3_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9P1Y5",
"type": "external"
}
],
"mass": 134750.0,
"length": 1249,
"protein_name": "Calmodulin-regulated spectrin-associated protein 3",
"gene_name": "CAMSAP3",
"organism": "Human",
"refseq_name": "calmodulin-regulated spectrin-associated protein 3 isoform 1",
"refseq_ac": [
{
"id": "NP_001073898",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073898",
"type": "external"
}
],
"gene_names_uniprotkb": "CAMSAP3; KIAA1543",
"gene_names_refseq": "CAMSAP3; KIAA1543; NEZHA; PPP1R80",
"protein_names_uniprotkb": "Calmodulin-regulated spectrin-associated protein 3; Protein Nezha",
"protein_names_refseq": "calmodulin-regulated spectrin-associated protein 3 isoform 1; calmodulin-regulated spectrin-associated protein 3; protein phosphatase 1, regulatory subunit 80",
"tax_id": 9606,
"disease": "",
"pathway": " (hsa:57662)",
"pathway_count": 1,
"publication_count": 43,
"publication_id_list": "16964243;17081983;18669648;19041755;19413330;19664995;19691289;20068231;21406692;23169647;23186163;23481700;24275569;24486153;24715725;25576301;25645385;26154972;26715742;27693509;27802168;28089391;28386021;28657654;28832583;28834231;29242379;29557506;30379171;31844290;31848261;32387766;32502341;33566684;33968037;34171305;35051231;35132862;35254053;35580925;37019300;37567766;38190868",
"class_list": "",
"function": "CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules., [RefSeq, PubMed]; CAMSAP3 negatively regulates lung cancer cell invasion and angiogenesis through nucleolin/HIF-1alpha mRNA complex stabilization., [RefSeq, PubMed]; CAMSAP3, a microtubule orientation regulator, plays a vital role in manifesting differentiation-dependent characteristics in keratinocytes., [RefSeq, PubMed]; KIAA1543 is a non-centrosomal minus end binding protein. It is termed Nezha(a character in Chinese mythic novel (Journey to the West))., [RefSeq, PubMed]; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). 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). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:26715742, PubMed:27802168). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391). Plays an important role in motile cilia function by facilitatating proper orientation of basal bodies and formation of central microtubule pairs in motile cilia (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Rab14/MACF2 complex regulates endosomal targeting during cytokinesis., [RefSeq, PubMed]",
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"secondary_ac_list": "Q8NDF1",
"ec_number_list": [],
"go_molecular_function": "GO:0003677 DNA binding;GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0030507 spectrin binding;GO:0051011 microtubule minus-end binding",
"go_cellular_component": "GO:0031298 replication fork protection complex;GO:0005737 cytoplasm;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body",
"go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0051893 regulation of focal adhesion assembly;GO:0009792 embryo development ending in birth or egg hatching;GO:0098840 protein transport along microtubule;GO:0031175 neuron projection development",
"synthesized_glycan_count": 0,
"hit_score": 5.0,
"record_id": "Q9P1Y5-1",
"record_type": "protein",
"filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000",
"kg_view_protein": true
},
{
"uniprot_canonical_ac": "Q9Y232-1",
"uniprot_id": [
{
"id": "CDYL_HUMAN",
"url": "https://www.uniprot.org/uniprot/Q9Y232",
"type": "external"
}
],
"mass": 66482.0,
"length": 598,
"protein_name": "Chromodomain Y-like protein",
"gene_name": "CDYL",
"organism": "Human",
"refseq_name": "chromodomain Y-like protein isoform d",
"refseq_ac": [
{
"id": "NP_001137442",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137442",
"type": "external"
}
],
"gene_names_uniprotkb": "CDYL; CDYL1",
"gene_names_refseq": "CDYL1; CDYL",
"protein_names_uniprotkb": "Chromodomain Y-like protein; 4.2.1.-; CDY-like; Crotonyl-CoA hydratase",
"protein_names_refseq": "CDY-like, autosomal; chromodomain Y-like protein isoform d; chromodomain protein, Y-like; crotonyl-CoA hydratase; testis-specific chromodomain Y-like protein",
"tax_id": 9606,
"disease": "epilepsy (Disease Ontology:DOID:1826)",
"pathway": " (hsa:9425)",
"pathway_count": 1,
"publication_count": 73,
"publication_id_list": "10192397;11237011;12072557;17081983;18220336;18438403;18446792;18450745;18669648;19061646;19507244;19808672;20068231;21406692;22009739;23186163;23481700;24275569;25418920;25576301;25645385;26375851;26992070;27846572;27920218;28063628;28228285;28402439;28649982;28803779;28832583;28842554;28904123;29177481;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30379171;30429286;30779550;30833945;31217245;31844290;31848261;32157095;32161166;32350084;32387766;32502341;32741666;32938616;33592498;33633747;33912179;33936100;33968037;34019948;34561969;35051231;35251023;35318648;35580925;35705054;36010968;37852428;38085365;38786072;39378153;40914422",
"class_list": "",
"function": "Chromatin reader protein that recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively) (PubMed:19808672, PubMed:28402439). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape (PubMed:28402439). Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing histone H3K27me3 and newly recruited PRC2 on neighboring nucleosomes (PubMed:22009739). Acts as a corepressor for REST by facilitating histone-lysine N-methyltransferase EHMT2 recruitment and H3K9 dimethylation at REST target genes for repression (PubMed:19061646). Involved in X chromosome inactivation in females: recruited to Xist RNA-coated X chromosome and facilitates propagation of H3K9me2 by anchoring EHMT2 (By similarity). Promotes EZH2 accumulation and H3K27me3 methylation at DNA double strand breaks (DSBs), thereby facilitating transcriptional repression at sites of DNA damage and homology-directed repair of DSBs (PubMed:29177481). Required for neuronal migration during brain development by repressing expression of RHOA (By similarity). By repressing the expression of SCN8A, contributes to the inhibition of intrinsic neuronal excitability and epileptogenesis (By similarity). In addition to acting as a chromatin reader, acts as a hydro-lyase (PubMed:28803779). Shows crotonyl-coA hydratase activity by mediating the conversion of crotonyl-CoA ((2E)-butenoyl-CoA) to beta-hydroxybutyryl-CoA (3-hydroxybutanoyl-CoA), thereby acting as a negative regulator of histone crotonylation (PubMed:28803779). Histone crotonylation is required during spermatogenesis; down-regulation of histone crotonylation by CDYL regulates the reactivation of sex chromosome-linked genes in round spermatids and histone replacement in elongating spermatids (By similarity). By regulating histone crotonylation and trimethylation of H3K27, may be involved in stress-induced depression-like behaviors, possibly by regulating VGF expression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; CircCDYL Acts as a Tumor Suppressor in Triple Negative Breast Cancer by Sponging miR-190a-3p and Upregulating TP53INP1., [RefSeq, PubMed]; Emerging functions and significance of circCDYL in human disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma., [RefSeq, PubMed]; Interaction between Chromodomain Y-like Protein and Androgen Receptor Signaling in Sertoli Cells Accounts for Spermatogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the absence of the chromo domain (PubMed:19808672). Acts as a negative regulator of isoform 2 by displacing isoform 2 from chromatin., [UniProtKB, PubMed]; Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the presence of a N-terminal extension that inactivates the chromo domain (PubMed:19808672)., [UniProtKB, PubMed]; The chromodomain protein CDYL confers forebrain identity to human cortical organoids by inhibiting neuronatin., [RefSeq, PubMed]",
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"reported_glycation": 0,
"reported_snv": 10,
"reported_interactions": 0,
"missing_score": 0,
"biomarker_type": "",
"glycan_count": 1,
"disease_count": 1,
"glyco_site_count": 1,
"binding_glycan_count": 0,
"secondary_ac_list": "A8K6D6;B4DLG4;Q0VDG7;Q32NC5;Q5VX99;Q6P7T5;Q9BWZ2;Q9Y424",
"ec_number_list": [
{
"id": "4.2.1.17",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17",
"type": "external"
},
{
"id": "5.3.3.8",
"url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8",
"type": "external"
},
{
"id": "4.2.1.-",
"url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.-",
"type": "external"
}
],
"go_molecular_function": "GO:0003682 chromatin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0003714 transcription corepressor activity;GO:0061628 histone H3K27me3 reader activity;GO:0120092 (2E)-butenoyl-CoA hydratase activity",
"go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005694 chromosome",
"go_biological_process": "GO:0060816 random inactivation of X chromosome;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0007286 spermatid development;GO:0120094 negative regulation of peptidyl-lysine crotonylation",
"synthesized_glycan_count": 0,
"hit_score": 7.7,
"record_id": "Q9Y232-1",
"record_type": "protein",
"filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000",
"kg_view_protein": true
}
]